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
STXBP5L	9515	broad.mit.edu	37	3	121126335	121126335	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:121126335C>T	uc003eec.4	+	23	3045	c.2905C>T	c.(2905-2907)Ctt>Ttt	p.L969F	STXBP5L_uc011bji.2_Missense_Mutation_p.L945F	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	969					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TCAGACTTGCCTTTATGTTCA	0.423000														39			8		0	0	0.000274275	0	0
TRBV29-1	28558	broad.mit.edu	37	7	142448586	142448586	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142448586G>A	uc011ksl.1	+	1	211	c.180G>A	c.(178-180)ctG>ctA	p.L60L	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|TRBV29-1_uc022anu.1_Silent_p.L56L					SubName: Full=V_segment translation product; Flags: Fragment;																		GCCTGACACTGATCGCAACTG	0.502000														19			7		0	0	0.00198382	0	0
MCTP1	79772	broad.mit.edu	37	5	94230396	94230396	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:94230396G>A	uc003kkx.2	-	10	1797	c.1797C>T	c.(1795-1797)tcC>tcT	p.S599S	MCTP1_uc003kkv.2_Silent_p.S378S|MCTP1_uc003kkw.2_Silent_p.S332S|MCTP1_uc003kkz.2_Silent_p.S260S|MCTP1_uc003kku.2_Silent_p.S115S	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	599					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GGTCCTCCAGGGAGTTGACAG	0.507000														17			6		0	0	0.00198382	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140214884	140214884	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140214884G>A	uc003lhq.2	+	0	916	c.916G>A	c.(916-918)Gga>Aga	p.G306R	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_uc011dac.2_Missense_Mutation_p.G306R	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	321	Cadherin 3.				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)			CACAGTGATAGGACATATGGA	0.448000														21			11		0	0	0.00229938	0	0
LRCH4	4034	broad.mit.edu	37	7	100175158	100175158	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:100175158G>A	uc003uvj.3	-	9	1193	c.1140C>T	c.(1138-1140)agC>agT	p.S380S	LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc022aiq.1_5'Flank|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	380					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGCCCCAGGGCTTAATTCGG	0.672000														54			5		0	0	0.00198382	0	0
SERBP1	26135	broad.mit.edu	37	1	67895733	67895733	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:67895733G>A	uc001ddv.3	-	0	391	c.251C>T	c.(250-252)cCc>cTc	p.P84L	SERBP1_uc001ddy.3_Missense_Mutation_p.P84L|SERBP1_uc001ddw.3_Missense_Mutation_p.P84L|SERBP1_uc001ddx.3_Missense_Mutation_p.P84L	NM_001018067	NP_001018077	Q8NC51	PAIRB_HUMAN	Homo sapiens SERPINE1 mRNA binding protein 1 (SERBP1), transcript variant 1, mRNA.	84					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						GCCAACGCTGGGGGGCAGCGG	0.627000														58			26		0	0	0.001512	0	0
ADCY8	114	broad.mit.edu	37	8	132002651	132002651	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:132002651C>T	uc003ytd.4	-	1	1354	c.1098G>A	c.(1096-1098)gaG>gaA	p.E366E	ADCY8_uc010mds.3_Silent_p.E366E	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	366					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GTCTTTGGTTCTCTGTCTCCA	0.517000										HNSCC(32;0.087)				86			12		0	0	0.000978159	0	0
KCNC2	3747	broad.mit.edu	37	12	75601362	75601362	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:75601362G>A	uc001sxg.1	-	1	946	c.402C>T	c.(400-402)ttC>ttT	p.F134F	KCNC2_uc009zry.3_Silent_p.F134F|KCNC2_uc001sxe.3_Silent_p.F134F|KCNC2_uc001sxf.3_Silent_p.F134F|KCNC2_uc010stw.1_Silent_p.F134F	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	134					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GCTCCTCCTCGAAGAGCGGCC	0.662000														20			12		0	0	0.00185496	0	0
CCDC144C	348254	broad.mit.edu	37	17	20242915	20242915	+	RNA	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:20242915G>A	uc010cqy.1	+	4		c.1004G>A								Homo sapiens coiled-coil domain containing 144C (CCDC144C), non-coding RNA.											breast(2)|endometrium(1)|kidney(4)|lung(4)|prostate(1)|urinary_tract(1)	13						AATTAGAGTGGAAAAACCAAT	0.373000														50			47		0	0	0.000781405	0	0
DDAH2	23564	broad.mit.edu	37	6	31696838	31696838	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31696838G>A	uc003nwp.3	-	0	732	c.101C>T	c.(100-102)cCc>cTc	p.P34L	DDAH2_uc003nwq.3_Missense_Mutation_p.P34L	NM_013974	NP_039268	O95865	DDAH2_HUMAN	Homo sapiens dimethylarginine dimethylaminohydrolase 2 (DDAH2), mRNA.	34					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	ATCCAGAGCGGGAAGGCCAGC	0.677000														215			38		0	0	0.000781405	0	0
RPTN	126638	broad.mit.edu	37	1	152127692	152127692	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152127692C>T	uc001ezs.1	-	2	1948	c.1883G>A	c.(1882-1884)gGg>gAg	p.G628E		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	628	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GTTTTGGTACCCTTCCTGTCC	0.488000														62			15		0	0	0.000422831	0	0
C1RL	51279	broad.mit.edu	37	12	7249305	7249305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:7249305C>T	uc001qsn.3	-	5	1239	c.1146G>A	c.(1144-1146)atG>atA	p.M382I	C1RL_uc009zft.3_3'UTR	NM_016546	NP_057630	Q9NZP8	C1RL_HUMAN	Homo sapiens complement component 1, r subcomponent-like (C1RL), mRNA.	382	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTAGCCAGCCCATCTCCATGC	0.602000														39			16		0	0	0.000422831	0	0
C7orf66	154907	broad.mit.edu	37	7	108524071	108524071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:108524071C>T	uc003vfo.3	-	1	389	c.341G>A	c.(340-342)gGa>gAa	p.G114E		NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN	Homo sapiens chromosome 7 open reading frame 66 (C7orf66), mRNA.	114						integral to membrane				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TCCTTAATTTCCCATTTCCTT	0.323000														67			5		0	0	0.000602214	0	0
THSD7B	80731	broad.mit.edu	37	2	137814319	137814319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:137814319G>A	uc002tva.1	+	1	376	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.E16K	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGTTGCAAATGAAATATGCGA	0.522000														35			14		0	0	0.00244969	0	0
TP53	7157	broad.mit.edu	37	17	7578502	7578502	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7578502A>T	uc002gim.2	-	4	622	c.428T>A	c.(427-429)gTg>gAg	p.V143E	TP53_uc002gig.1_Missense_Mutation_p.V143E|TP53_uc002gih.3_Missense_Mutation_p.V143E|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V11E|TP53_uc010cnf.1_Missense_Mutation_p.V11E|TP53_uc002gii.1_Missense_Mutation_p.V11E|TP53_uc010cni.1_Missense_Mutation_p.V143E|TP53_uc010cnh.1_Missense_Mutation_p.V143E|TP53_uc002gij.2_Missense_Mutation_p.V143E|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.V50E|TP53_uc002gio.2_Missense_Mutation_p.V11E|TP53_uc010vug.2_Missense_Mutation_p.V104E	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	143	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V143A(33)|p.V143M(17)|p.V143E(10)|p.P142L(8)|p.0?(8)|p.V143L(4)|p.P142H(3)|p.P142P(3)|p.L137_W146del10(2)|p.P142_Q144delPVQ(2)|p.V11A(2)|p.P142F(2)|p.P142A(2)|p.V50A(2)|p.A138_V143delAKTCPV(2)|p.P142T(2)|p.P142S(2)|p.V143V(2)|p.V143fs*27(2)|p.A138_P142delAKTCP(2)|p.V143G(2)|p.P142fs*28(2)|p.V143_S149del(2)|p.V143fs*29(1)|p.K139fs*4(1)|p.C141_P142insXX(1)|p.C141fs*5(1)|p.P142del(1)|p.P142fs*7(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCACAGCTGCACAGGGCAGGT	0.587000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				10			25		0	0	0.000878237	0	0
PCLO	27445	broad.mit.edu	37	7	82585021	82585021	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:82585021C>T	uc003uhx.2	-	4	5537	c.5248G>A	c.(5248-5250)Gga>Aga	p.G1750R	PCLO_uc003uhv.2_Missense_Mutation_p.G1750R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1681					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G1750E(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGCTCTCTCCTTTTTTGTGA	0.473000														154			19		0	0	0.00229938	0	0
OR2G2	81470	broad.mit.edu	37	1	247752107	247752107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:247752107C>T	uc010pyy.2	+	0	446	c.446C>T	c.(445-447)tCt>tTt	p.S149F		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCCTTGGCATCTATGGCATGG	0.557000														49			14		0	0	0.000422831	0	0
DDR1	780	broad.mit.edu	37	6	30857032	30857032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:30857032C>T	uc003nrv.3	+	2	284	c.242C>T	c.(241-243)cCc>cTc	p.P81L	DDR1_uc010jse.3_Missense_Mutation_p.P81L|DDR1_uc003nrq.3_Missense_Mutation_p.P81L|DDR1_uc003nrr.3_Missense_Mutation_p.P81L|DDR1_uc003nrs.3_Missense_Mutation_p.P81L|DDR1_uc003nrt.3_Missense_Mutation_p.P81L|DDR1_uc011dms.2_Missense_Mutation_p.P99L|DDR1_uc011dmt.2_Missense_Mutation_p.P107L|DDR1_uc003nru.3_Missense_Mutation_p.P81L|DDR1_uc011dmu.1_Missense_Mutation_p.P81L|DDR1_uc003nry.2_Missense_Mutation_p.P81L|DDR1_uc003nrx.2_Missense_Mutation_p.P81L|MIR4640_uc021yue.1_5'Flank|DDR1_uc003nrw.1_5'Flank	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	81	F5/8 type C.				cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.P81P(1)		central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TCGGTGTTTCCCAAGGAGGAG	0.647000														109			22		0	0	0.00278032	0	0
USP40	55230	broad.mit.edu	37	2	234465579	234465579	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:234465579G>A	uc010zmr.2	-	3	504	c.504C>T	c.(502-504)gaC>gaT	p.D168D	USP40_uc010zmu.1_Silent_p.D156D	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.	156					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		GATAGATGAGGTCATGACCGG	0.418000														36			31		0	0	0.00178596	0	0
POLD3	10714	broad.mit.edu	37	11	74323981	74323981	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:74323981C>T	uc001ovf.1	+	4	393	c.318C>T	c.(316-318)gcC>gcT	p.A106A	POLD3_uc009yua.1_5'UTR	NM_006591	NP_006582	Q15054	DPOD3_HUMAN	Homo sapiens polymerase (DNA-directed), delta 3, accessory subunit (POLD3), mRNA.	106					DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|S phase of mitotic cell cycle|base-excision repair|mismatch repair|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					TCCAGAAAGCCATGCTAAAGG	0.448000														35			28		0	0	0.00127121	0	0
ATP8B2	57198	broad.mit.edu	37	1	154309862	154309862	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:154309862C>T	uc001fex.3	+	11	975	c.975C>T	c.(973-975)gcC>gcT	p.A325A	ATP8B2_uc001few.3_Silent_p.A292A|ATP8B2_uc001fey.1_Silent_p.A311A	NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	311					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATCCTGGCCATTGGCAATG	0.557000														74			18		0	0	0.00229938	0	0
ASAP1	50807	broad.mit.edu	37	8	131179856	131179857	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:131179856_131179857GG>TT	uc003yta.2	-	10	1062_1063	c.834_835CC>AA	c.(832-837)acccag>acAAag	p.Q279K	ASAP1_uc003ysz.2_Missense_Mutation_p.Q87K|ASAP1_uc011liw.2_Missense_Mutation_p.Q272K	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	279					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCTTCATCCTGGGTCTGTTTTA	0.327000														235			11		0	0	6.4e-05	0	0
MYO15A	51168	broad.mit.edu	37	17	18022511	18022511	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:18022511G>A	uc021trm.1	+	0	616	c.397G>A	c.(397-399)Gcc>Acc	p.A133T	MYO15A_uc021trl.1_Missense_Mutation_p.A133T	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	133	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGCGTCCACGGCCATCAACTG	0.662000														7			28		0	0	0.001512	0	0
FAM75A6	389730	broad.mit.edu	37	9	43627092	43627092	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:43627092G>A	uc011lrb.2	-	3	1624	c.1595C>T	c.(1594-1596)tCc>tTc	p.S532F		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	532						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						TTCAGGTAGGGAGAGAGCTTG	0.473000														109			54		0	0	0.000781405	0	0
HS2ST1	9653	broad.mit.edu	37	1	87538833	87538833	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:87538833C>T	uc010osk.2	+	1	726	c.341C>T	c.(340-342)cCa>cTa	p.P114L	HS2ST1_uc001dmc.4_Missense_Mutation_p.P114L|HS2ST1_uc001dme.2_Missense_Mutation_p.P75L	NM_012262	NP_036394	Q7LGA3	HS2ST_HUMAN	Homo sapiens heparan sulfate 2-O-sulfotransferase 1 (HS2ST1), transcript variant 1, mRNA.	114						Golgi membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)	9		Lung NSC(277;0.153)		all cancers(265;0.00699)|Epithelial(280;0.0261)		AAAAATAATCCAGTGATGTCA	0.368000														67			16		0	0	0.000422831	0	0
GPR116	221395	broad.mit.edu	37	6	46851844	46851844	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:46851844G>A	uc003oyo.3	-	4	782	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	GPR116_uc003oyp.3_Silent_p.L165L|GPR116_uc003oyq.3_Silent_p.L165L|GPR116_uc003oyr.2_Silent_p.L165L	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	165	SEA.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCCTGAAGCAGGCAAAAAGGT	0.483000														83			12		0	0	0.000308642	0	0
AMOTL1	154810	broad.mit.edu	37	11	94533298	94533298	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:94533298C>T	uc001pfb.3	+	2	1112	c.942C>T	c.(940-942)ccC>ccT	p.P314P	AMOTL1_uc001pfc.3_Silent_p.P264P	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	314						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CTGAGTACCCCTTCAAGACCA	0.597000														36			14		0	0	0.000308642	0	0
SLC22A6	9356	broad.mit.edu	37	11	62752120	62752120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:62752120G>A	uc001nwk.3	-	0	376	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	SLC22A6_uc001nwl.3_Missense_Mutation_p.R15C|SLC22A6_uc001nwj.3_Missense_Mutation_p.R15C|SLC22A6_uc001nwm.3_Missense_Mutation_p.R15C	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	15					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TGCTGGAAGCGGCCGACACCC	0.637000														19			6		0	0	0.000157383	0	0
IFNB1	3456	broad.mit.edu	37	9	21077355	21077355	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:21077355G>A	uc003zok.3	-	0	589	c.514C>T	c.(514-516)Cta>Tta	p.L172L		NM_002176	NP_002167	P01574	IFNB_HUMAN	Homo sapiens interferon, beta 1, fibroblast (IFNB1), mRNA.	172					B cell proliferation|activation of caspase activity|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of cell proliferation|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	AAGTTCCTTAGGATTTCCACT	0.458000														19			8		0	0	0.000978159	0	0
NBPF1	55672	broad.mit.edu	37	1	16893825	16893825	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:16893825A>G	uc009vos.1	-	24	3576	c.2688T>C	c.(2686-2688)gaT>gaC	p.D896D	NBPF1_uc009vot.1_Silent_p.D354D|NBPF1_uc001ayz.1_Silent_p.D354D|NBPF1_uc010oce.1_Silent_p.D625D	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	896	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GCCCTTTCTCATCCAGCAGCT	0.488000														294			10		0	0	0.00185496	0	0
DNAH8	1769	broad.mit.edu	37	6	38950159	38950159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:38950159C>T	uc021yzh.1	+	85	12981	c.12872C>T	c.(12871-12873)cCc>cTc	p.P4291L	DNAH8_uc003ooe.2_Missense_Mutation_p.P4074L|DNAH8_uc003oog.1_Missense_Mutation_p.P523L	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						TGGAATATTCCCTACGAATTC	0.353000														153			19		0	0	0.00121646	0	0
NLRC3	197358	broad.mit.edu	37	16	3611771	3611771	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:3611771G>A	uc010btn.3	-	5	2358	c.1947C>T	c.(1945-1947)ttC>ttT	p.F649F		NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	649					I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGGGGTCCTGGAACTGGTTGG	0.667000														25			8		0	0	0.000274275	0	0
ABCA6	23460	broad.mit.edu	37	17	67101675	67101675	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:67101675C>T	uc002jhw.1	-	19	2843	c.2668G>A	c.(2668-2670)Gaa>Aaa	p.E890K		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	890					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AAATACAATTCGTTTTTAAAT	0.328000														25			8		0	0	0.000274275	0	0
CAPN13	92291	broad.mit.edu	37	2	30977163	30977163	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:30977163C>T	uc021vfn.1	-	7	966	c.934G>A	c.(934-936)Gag>Aag	p.E312K	CAPN13_uc021vfm.1_Missense_Mutation_p.E312K|CAPN13_uc002rnp.1_Missense_Mutation_p.E312K	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	312	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TACCAAAACTCGCCATCTTCC	0.448000														16			4		0	0	0.00116845	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995171	140995171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:140995171C>T	uc004fbt.3	+	3	2305	c.1981C>T	c.(1981-1983)Cat>Tat	p.H661Y	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.H320Y	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	661							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTCCTCTCCATAGTCCTCA	0.582000										HNSCC(15;0.026)				40			13		0	0	0.00244969	0	0
ROS1	6098	broad.mit.edu	37	6	117662645	117662645	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:117662645G>A	uc003pxp.1	-	28	5019	c.4820C>T	c.(4819-4821)cCt>cTt	p.P1607L	ROS1_uc011ebi.1_Intron|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1607	Fibronectin type-III 7.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTGTCTTAGAGGAGTTTCAGG	0.403000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									16			20		0	0	0.00188189	0	0
SF3B2	10992	broad.mit.edu	37	11	65828151	65828151	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:65828151C>T	uc001ogy.1	+	13	1768	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	576					interspecies interaction between organisms	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						ATGCCTTCTTCAAGTGGCAGA	0.517000														65			17		0	0	0.00188189	0	0
GPR20	2843	broad.mit.edu	37	8	142367832	142367832	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:142367832G>A	uc022bby.1	-	0	192	c.192C>T	c.(190-192)ttC>ttT	p.F64F	GPR20_uc003ywf.3_Silent_p.F64F	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	64						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			GCCCTGCCAGGAAGATGGCTC	0.647000														21			6		0	0	0.00198382	0	0
SLIT2	9353	broad.mit.edu	37	4	20555568	20555568	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:20555568C>T	uc003gpr.1	+	25	2906	c.2702C>T	c.(2701-2703)cCc>cTc	p.P901L	SLIT2_uc003gps.1_Missense_Mutation_p.P893L	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	901	LRRCT 4.				Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	GTPase inhibitor activity|Roundabout binding|calcium ion binding|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTCACAACTCCCTCCAAAAAA	0.358000														58			13		0	0	0.000422831	0	0
NPC1L1	29881	broad.mit.edu	37	7	44553248	44553248	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:44553248C>T	uc003tlb.3	-	20	3934	c.3878_splice	c.e20-1	p.G1293_splice	NPC1L1_uc011kbw.2_Splice_Site_p.G1220_splice|NPC1L1_uc003tlc.3_Splice_Site_p.G1266_splice|NPC1L1_uc003tla.3_Splice_Site_p.T99_splice	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	1293					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	AACGTCAGGCCCTGCGGAGAG	0.612000														38			6		0	0	0.00198382	0	0
CHRM3	1131	broad.mit.edu	37	1	240071559	240071559	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:240071559G>A	uc021plc.1	+	0	808	c.808G>A	c.(808-810)Gcc>Acc	p.A270T	CHRM3_uc001hyp.3_Missense_Mutation_p.A270T	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	270					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGGCCTGCAAGCCTCTGGGAC	0.473000														36			11		0	0	0.000673444	0	0
CECR2	27443	broad.mit.edu	37	22	18031748	18031748	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:18031748C>T	uc010gqw.1	+	16	4238	c.4238C>T	c.(4237-4239)tCg>tTg	p.S1413L	CECR2_uc010gqv.1_Missense_Mutation_p.S1273L|CECR2_uc002zml.2_Missense_Mutation_p.S1274L|CECR2_uc002zmo.2_Non-coding_Transcript	NM_031413	NP_113601	Q9BXF3	CECR2_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 2 (CECR2), mRNA.	1457					DNA fragmentation involved in apoptotic nuclear change|chromatin modification|cytokinesis|cytoskeleton organization|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		TCGCAGGCCTCGTTCCCAAAG	0.498000														21			15		0	0	0.000308642	0	0
TCRGV	0	broad.mit.edu	37	7	38402702	38402702	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:38402702G>A	uc003tgs.1	-	1	307	c.117C>T	c.(115-117)atC>atT	p.I39I	LOC100506776_uc003tgp.2_Intron					Homo sapiens cDNA clone IMAGE:5227869, **** WARNING: chimeric clone ****.																		GATCACAAGTGATTTCAGCAG	0.478000														30			46		0	0	0.000781405	0	0
DYRK4	8798	broad.mit.edu	37	12	4700454	4700454	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:4700454G>A	uc009zeh.1	+	4	495	c.453G>A	c.(451-453)ctG>ctA	p.L151L	DYRK4_uc001qmx.3_Silent_p.L36L|DYRK4_uc001qmy.2_Silent_p.L36L|DYRK4_uc021qtq.1_5'UTR	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	36	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L438L(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			AGGTGACTCTGACAGCGGCAG	0.537000														25			8		0	0	0.000274275	0	0
APOB	338	broad.mit.edu	37	2	21235262	21235262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:21235262G>A	uc002red.3	-	25	4606	c.4478C>T	c.(4477-4479)tCt>tTt	p.S1493F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1493					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)	ATAGAACGAAGAGACTCTGAA	0.468000														172			38		0	0	0.00170553	0	0
PARS2	25973	broad.mit.edu	37	1	55223872	55223872	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:55223872G>A	uc021ont.1	-	0	963	c.963C>T	c.(961-963)ttC>ttT	p.F321F	PARS2_uc001cxy.3_Silent_p.F321F	NM_152268	NP_689481	Q7L3T8	SYPM_HUMAN	Homo sapiens prolyl-tRNA synthetase 2, mitochondrial (putative) (PARS2), nuclear gene encoding mitochondrial protein, mRNA.	321					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	ACTGGGCATTGAAAATGGATG	0.507000														48			14		0	0	0.000308642	0	0
IGSF22	283284	broad.mit.edu	37	11	18738425	18738425	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:18738425C>T	uc009yht.2	-	9	1286	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	366										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTCTTCAGCTCCTTCCCATTG	0.507000														133			29		0	0	0.000814825	0	0
KCTD8	386617	broad.mit.edu	37	4	44176909	44176909	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:44176909C>T	uc003gwu.3	-	1	1604	c.1320G>A	c.(1318-1320)atG>atA	p.M440I		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	440						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TACACTTTTTCATTTCTTCTT	0.398000										HNSCC(17;0.042)				93			25		0	0	0.00278032	0	0
BRD7	29117	broad.mit.edu	37	16	50383950	50383950	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:50383950G>A	uc021thx.1	-	4	735	c.575C>T	c.(574-576)tCc>tTc	p.S192F	BRD7_uc002ege.2_Missense_Mutation_p.S192F	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	Homo sapiens bromodomain containing 7 (BRD7), transcript variant 2, mRNA.	192	Bromo.				Wnt receptor signaling pathway|cell cycle|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				TTCTTCTATGGACTGATAGTC	0.343000														57			18		0	0	0.00074312	0	0
FER1L6	654463	broad.mit.edu	37	8	124998379	124998379	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:124998379G>A	uc003yqw.3	+	11	1688	c.1482G>A	c.(1480-1482)aaG>aaA	p.K494K	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	494						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTGACCGGAAGATTGGAGATA	0.343000														110			17		0	0	0.00121646	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	25563	25563	+	RNA	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrGL000241.1:25563C>T	uc011mgv.2	-	3		c.429G>A								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		GGCTATGGTTCCTGAAATTTC	0.353000														417			13		0	0	0.000958276	0	0
CREB5	9586	broad.mit.edu	37	7	28763871	28763871	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:28763871C>T	uc003szq.3	+	6	1014	c.624C>T	c.(622-624)atC>atT	p.I208I	CREB5_uc003szo.3_Silent_p.I175I|CREB5_uc003szr.3_Silent_p.I201I|CREB5_uc003szs.3_Silent_p.I69I|CREB5_uc011jzr.2_Silent_p.I57I	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	208					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						ACTCCAGCATCATGGGGATGC	0.453000														117			18		0	0	0.00121646	0	0
FLT4	2324	broad.mit.edu	37	5	180043412	180043412	+	Silent	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:180043412A>T	uc003mlz.4	-	22	3253	c.3174T>A	c.(3172-3174)ctT>ctA	p.L1058L	FLT4_uc003mma.4_Silent_p.L1058L	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1058	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGTCCCGGGCAAGGCCAAAGT	0.617000														15			4		0	0	0.000602214	0	0
ZNF648	127665	broad.mit.edu	37	1	182025563	182025563	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:182025563C>T	uc001goz.3	-	1	1791	c.1583G>A	c.(1582-1584)gGa>gAa	p.G528E	ZNF648_uc021pfu.1_Missense_Mutation_p.G528E	NM_001009992	NP_001009992	Q5T619	ZN648_HUMAN	Homo sapiens zinc finger protein 648 (ZNF648), mRNA.	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G528R(1)		breast(1)|endometrium(7)|large_intestine(10)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	40						GGGCCTCTCTCCGTTGTGCAT	0.617000														19			6		0	0	0.00116845	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70617386	70617386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:70617386C>T	uc003xyl.3	-	5	2209	c.1502G>A	c.(1501-1503)aGa>aAa	p.R501K	SLCO5A1_uc010lzb.3_Missense_Mutation_p.R446K|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Missense_Mutation_p.R501K|SLCO5A1_uc010lzc.2_Missense_Mutation_p.R446K	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	501						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGCAGATTCTCTGGCACCAAG	0.423000														76			13		0	0	0.000308642	0	0
IGSF1	3547	broad.mit.edu	37	X	130413299	130413299	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:130413299C>T	uc004ewe.4	-	9	1946	c.1663G>A	c.(1663-1665)Gga>Aga	p.G555R	IGSF1_uc004ewd.3_Missense_Mutation_p.G555R|IGSF1_uc022cdv.1_Missense_Mutation_p.G546R|IGSF1_uc004ewf.2_Missense_Mutation_p.G535R	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	555					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGAGCTGTTCCCAGCAACCAG	0.582000														24			10		0	0	0.00136819	0	0
CD2	914	broad.mit.edu	37	1	117311124	117311124	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:117311124G>A	uc001egu.4	+	4	804	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K		NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	259					T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	AGTAGCTACTGAAGAAAGGGG	0.502000														17			5		0	0	0.000602214	0	0
KCNH8	131096	broad.mit.edu	37	3	19295352	19295352	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:19295352G>A	uc003cbk.1	+	1	478	c.283G>A	c.(283-285)Gga>Aga	p.G95R	KCNH8_uc011awe.1_Missense_Mutation_p.G95R|KCNH8_uc010hex.1_5'UTR	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	95	PAC.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGAATTCAAAGGAGAAATTAT	0.418000														39			9		0	0	0.000274275	0	0
VIPR2	7434	broad.mit.edu	37	7	158829453	158829453	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:158829453C>T	uc003woh.3	-	6	924	c.738G>A	c.(736-738)ctG>ctA	p.L246L	VIPR2_uc010lqx.3_Non-coding_Transcript|VIPR2_uc010lqy.3_Non-coding_Transcript	NM_003382	NP_003373	P41587	VIPR2_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA.	246					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CCCATCCGATCAGGAGGTAGG	0.572000														18			5		0	0	0.000602214	0	0
FAM46C	54855	broad.mit.edu	37	1	118166491	118166491	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:118166491C>T	uc021osq.1	+	0	1001	c.1001C>T	c.(1000-1002)tCc>tTc	p.S334F	FAM46C_uc001ehe.3_Missense_Mutation_p.S334F	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	334										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		AACCTCATCTCCCTCCTGGCC	0.567000			"""Mis, F, O"""		MM					Multiple Myeloma(3;1.13e-06)				14			7		0	0	0.000274275	0	0
SV2B	9899	broad.mit.edu	37	15	91811827	91811827	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:91811827G>A	uc002bqv.3	+	9	2256	c.1365G>A	c.(1363-1365)gtG>gtA	p.V455V	SV2B_uc002bqt.3_Silent_p.V455V|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Silent_p.V304V	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	455					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGAAACTTGTGAATGATAAGT	0.453000														155			37		0	0	0.000953801	0	0
ASCC3	10973	broad.mit.edu	37	6	101086613	101086613	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:101086613G>A	uc003pqk.3	-	24	4315	c.3986C>T	c.(3985-3987)cCt>cTt	p.P1329L		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	1329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TGTCTGTACAGGGTTAAAGTG	0.423000														50			23		0	0	0.00106085	0	0
DNAH5	1767	broad.mit.edu	37	5	13871727	13871727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:13871727C>T	uc003jfd.2	-	22	3586	c.3544G>A	c.(3544-3546)Gaa>Aaa	p.E1182K		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1182	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCATTAATTTCCTGCTCTAGG	0.373000									Kartagener syndrome					30			5		0	0	0.00116845	0	0
IP6K1	9807	broad.mit.edu	37	3	49765026	49765026	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:49765026G>A	uc021wyl.1	-	5	1508	c.855C>T	c.(853-855)tcC>tcT	p.S285S	IP6K1_uc003cxm.1_Silent_p.S285S|IP6K1_uc003cxn.1_Silent_p.S120S	NM_001242829	NP_001229758	Q92551	IP6K1_HUMAN	Homo sapiens inositol hexakisphosphate kinase 1 (IP6K1), transcript variant 3, mRNA.	285					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						AGCCTTCAATGGAGAGCCCAC	0.567000														21			11		0	0	0.000673444	0	0
TAF15	8148	broad.mit.edu	37	17	34171161	34171161	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:34171161C>T	uc002hkd.3	+	13	1174	c.1088_splice	c.e13+1	p.P363_splice	TAF15_uc010ctw.1_Splice_Site|TAF15_uc002hkc.3_Splice_Site_p.P360_splice	NM_139215	NP_631961	Q92804	RBP56_HUMAN	Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.	363	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|RNA binding|nucleotide binding|protein binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TTGCCCTAATCCGTAAGTGTC	0.527000			T	"""TEC, CHN1, ZNF384"""	"""extraskeletal myxoid chondrosarcomas, ALL"""									58			9		0	0	0.000673444	0	0
NBPF1	55672	broad.mit.edu	37	1	16907919	16907920	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:16907919_16907920GG>TT	uc009vos.1	-	14	2262_2263	c.1374_1375CC>AA	c.(1372-1377)gccccc>gcAAcc	p.P459T	NBPF1_uc009vot.1_Intron|NBPF1_uc001ayz.1_Intron|NBPF1_uc010oce.1_Missense_Mutation_p.P188T	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	459	NBPF 2.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TGTTACCTGGGGGCAGATGATT	0.436000														335			12		0	0	6.4e-05	0	0
ZBTB45	84878	broad.mit.edu	37	19	59028308	59028308	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:59028308G>A	uc002qtd.3	-	1	1025	c.733C>T	c.(733-735)Ctc>Ttc	p.L245F	ZBTB45_uc002qtf.3_Missense_Mutation_p.L245F	NM_032792	NP_116181	Q96K62	ZBT45_HUMAN	Homo sapiens zinc finger and BTB domain containing 45 (ZBTB45), mRNA.	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|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;0.0165)|Lung(386;0.18)		GCAGCAGTGAGGAAGCCAGCA	0.652000											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		112			33		0	0	0.000953801	0	0
C6orf62	81688	broad.mit.edu	37	6	24716492	24716492	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:24716492C>T	uc003nel.3	-	1	697	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K		NM_030939	NP_112201	Q9GZU0	CF062_HUMAN	Homo sapiens chromosome 6 open reading frame 62 (C6orf62), mRNA.	64						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						ATATTTTCTTCATAATTATTT	0.398000														89			8		0	0	0.000442599	0	0
CD2AP	23607	broad.mit.edu	37	6	47544323	47544323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:47544323G>A	uc003oyw.3	+	6	1249	c.793G>A	c.(793-795)Gaa>Aaa	p.E265K		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Homo sapiens CD2-associated protein (CD2AP), mRNA.	265					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AACAGATACCGAAGGTAAAAT	0.323000														225			31		0	0	0.0024448	0	0
COL14A1	7373	broad.mit.edu	37	8	121220506	121220506	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:121220506G>A	uc003yox.3	+	10	1492	c.1227G>A	c.(1225-1227)ttG>ttA	p.L409L	COL14A1_uc003yoy.3_Silent_p.L87L|COL14A1_uc010mde.1_Silent_p.L87L	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	409	Fibronectin type-III 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.L409L(2)		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)			CCACAGTGTTGAAAAACTTGA	0.388000														30			14		0	0	0.000422831	0	0
FGF14	2259	broad.mit.edu	37	13	102379087	102379087	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:102379087A>C	uc001vpf.2	-	3	593	c.497T>G	c.(496-498)tTg>tGg	p.L166W	FGF14_uc001vpe.2_Missense_Mutation_p.L161W	NM_175929	NP_787125	Q92915	FGF14_HUMAN	Homo sapiens fibroblast growth factor 14 (FGF14), transcript variant 2, mRNA.	161					JNK cascade|cell death|cell-cell signaling|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTGTCTGTACAACATGGATGA	0.363000														18			6		0	0	0.000157383	0	0
MDN1	23195	broad.mit.edu	37	6	90411664	90411664	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:90411664C>T	uc003pnn.1	-	53	8381	c.8265G>A	c.(8263-8265)ctG>ctA	p.L2755L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	2755					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)		TCTGGTGGACCAGATGTTTTA	0.453000														28			19		0	0	0.00278032	0	0
GLB1L	79411	broad.mit.edu	37	2	220103910	220103910	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:220103910G>A	uc002vkm.3	-	10	1205	c.966C>T	c.(964-966)ttC>ttT	p.F322F	GLB1L_uc002vkk.3_Silent_p.F79F|GLB1L_uc010zkx.2_Silent_p.F232F|GLB1L_uc002vkn.3_Silent_p.F322F	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	Homo sapiens galactosidase, beta 1-like (GLB1L), mRNA.	322					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.R321H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAATCGGAAGGAAGCGTCCCT	0.438000														63			14		0	0	0.00074312	0	0
SUPT3H	8464	broad.mit.edu	37	6	44922332	44922332	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:44922332G>A	uc003oxp.3	-	7	759	c.593C>T	c.(592-594)tCc>tTc	p.S198F	SUPT3H_uc003oxn.1_Missense_Mutation_p.S198F|SUPT3H_uc003oxo.3_Missense_Mutation_p.S209F|SUPT3H_uc011dvv.2_Missense_Mutation_p.S46F|SUPT3H_uc011dvw.2_Missense_Mutation_p.S112F	NM_003599	NP_003590	O75486	SUPT3_HUMAN	Homo sapiens suppressor of Ty 3 homolog (S. cerevisiae) (SUPT3H), transcript variant 1, mRNA.	280					histone H3 acetylation|histone deubiquitination|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						TCGAAATTTGGAAGCTTTTTT	0.333000														124			20		0	0	0.00188189	0	0
POMC	5443	broad.mit.edu	37	2	25384096	25384096	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:25384096G>A	uc002rfy.1	-	3	921	c.658C>T	c.(658-660)Ccc>Tcc	p.P220S	POMC_uc002rfz.1_Missense_Mutation_p.P220S|POMC_uc002rga.1_Missense_Mutation_p.P220S	NM_001035256	NP_001030333	P01189	COLI_HUMAN	Homo sapiens proopiomelanocortin (POMC), transcript variant 1, mRNA.	220					cell-cell signaling|cellular nitrogen compound metabolic process|cellular pigmentation|generation of precursor metabolites and energy|hormone biosynthetic process|negative regulation of tumor necrosis factor production|neuropeptide signaling pathway|peptide hormone processing|positive regulation of transcription from RNA polymerase II promoter|regulation of appetite|regulation of blood pressure	extracellular space|stored secretory granule	hormone activity|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Hydrocortisone(DB00741)|Loperamide(DB00836)|Trilostane(DB01108)	ATCCTGTAGGGGCCCTCGTCC	0.697000														16			15		0	0	0.000958276	0	0
AGBL1	123624	broad.mit.edu	37	15	86806105	86806105	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:86806105G>A	uc002blz.1	+	8	1008	c.928G>A	c.(928-930)Gag>Aag	p.E310K	AGBL1_uc002bma.1_Missense_Mutation_p.E41K|AGBL1_uc002bmb.1_Missense_Mutation_p.E4K	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	310					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GATGTGTCTTGAGCTCTCCTA	0.473000														2			3		0	0	0.00024832	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140732168	140732168	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140732168C>T	uc003ljo.2	+	0	2341	c.2341C>T	c.(2341-2343)Cct>Tct	p.P781S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljq.2_5'Flank|PCDHGC5_uc011daq.2_Missense_Mutation_p.P781S|PCDHGC5_uc003ljp.1_5'Flank	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	805					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)			GTGTGATGATCCTTCTATGGT	0.408000														11			10		0	0	0.000673444	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169110	50169110	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:50169110C>T	uc002ppa.3	+	0	712	c.30C>T	c.(28-30)ccC>ccT	p.P10P	IRF3_uc002poy.2_5'UTR|IRF3_uc021uxp.1_5'UTR|IRF3_uc021uxq.1_5'UTR|IRF3_uc002pot.2_5'UTR|IRF3_uc021uxr.1_5'UTR|IRF3_uc021uxs.1_5'UTR|IRF3_uc002pow.3_5'UTR|IRF3_uc021uxo.1_5'UTR|IRF3_uc002pou.3_5'UTR|IRF3_uc010end.2_5'UTR|IRF3_uc002poz.1_5'UTR|IRF3_uc010ene.1_5'Flank|BCL2L12_uc002ppb.3_Silent_p.P10P	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA.	10					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TGTTCCCGCCCCTATGCCCTT	0.537000														52			8		0	0	0.00185496	0	0
OR56A5	390084	broad.mit.edu	37	11	5989578	5989578	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5989578C>T	uc010qzu.2	-	0	147	c.147G>A	c.(145-147)ctG>ctA	p.L49L		NM_001146033	NP_001139505	P0C7T3	O56A5_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 5 (OR56A5), mRNA.	49						integral to membrane|plasma membrane	olfactory receptor activity										AGATGGTGATCAGAAGGGTGG	0.592000														10			4		0	0	0.000602214	0	0
BCAR3	8412	broad.mit.edu	37	1	94054934	94054934	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:94054934G>A	uc001dpz.3	-	4	804	c.529C>T	c.(529-531)Cgt>Tgt	p.R177C	BCAR3_uc001dqa.3_Missense_Mutation_p.R177C|BCAR3_uc001dqb.3_Missense_Mutation_p.R177C|BCAR3_uc001dpy.3_Missense_Mutation_p.R86C|LOC100129046_uc009wdn.3_5'Flank	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	177	SH2.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGAGAGTCACGAACTAGGAAG	0.488000														16			7		0	0	0.000274275	0	0
NOBOX	135935	broad.mit.edu	37	7	144097406	144097406	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:144097406C>T	uc022aoj.1	-	5	845	c.845_splice	c.e5-1	p.D282_splice		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	282					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)					TCCAGCTGATCTGAAAGAAGA	0.517000														60			5		0	0	0.000157383	0	0
TACC2	10579	broad.mit.edu	37	10	124001492	124001492	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:124001492G>A	uc001lfv.3	+	18	8728	c.8368G>A	c.(8368-8370)Gag>Aag	p.E2790K	TACC2_uc001lfw.3_Missense_Mutation_p.E936K|TACC2_uc009xzx.3_Missense_Mutation_p.E2668K|TACC2_uc010qtv.2_Missense_Mutation_p.E2717K|TACC2_uc001lfx.3_Missense_Mutation_p.E417K|TACC2_uc001lfy.3_Missense_Mutation_p.E413K|TACC2_uc001lfz.3_Missense_Mutation_p.E868K|TACC2_uc001lga.3_Missense_Mutation_p.E838K|TACC2_uc009xzy.3_Missense_Mutation_p.E850K|TACC2_uc001lgb.3_Missense_Mutation_p.E748K	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2790						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GGCCGAGTATGAGAAGACCAT	0.517000														51			18		0	0	0.00229938	0	0
FLRT2	23768	broad.mit.edu	37	14	86089651	86089651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:86089651C>T	uc021rxf.1	+	0	1793	c.1793C>T	c.(1792-1794)tCc>tTc	p.S598F	FLRT2_uc001xvr.3_Missense_Mutation_p.S598F|FLRT2_uc010atd.3_Missense_Mutation_p.S598F	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	598					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		AAGGACAACTCCATCCTGGAG	0.478000														42			15		0	0	0.000422831	0	0
KERA	11081	broad.mit.edu	37	12	91449250	91449250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:91449250G>A	uc001tbl.3	-	1	1428	c.809C>T	c.(808-810)tCg>tTg	p.S270L		NM_007035	NP_008966	O60938	KERA_HUMAN	Homo sapiens keratocan (KERA), mRNA.	270					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						TTGATTGTGCGACAGTTGAAG	0.408000														17			10		0	0	0.000978159	0	0
PPFIA1	8500	broad.mit.edu	37	11	70208401	70208401	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:70208401T>C	uc001opo.3	+	20	2887	c.2672T>C	c.(2671-2673)gTt>gCt	p.V891A	PPFIA1_uc001opn.2_Missense_Mutation_p.V891A|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opr.3_5'UTR	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.	891	SAM 1.				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)			CAGCTCTGGGTTGGGATGCCA	0.562000														27			8		0	0	0.000442599	0	0
RGPD4	285190	broad.mit.edu	37	2	108487579	108487579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:108487579C>T	uc010ywk.2	+	19	3201	c.3119C>T	c.(3118-3120)cCa>cTa	p.P1040L	RGPD4_uc002tdu.3_Missense_Mutation_p.P227L|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1040	RanBD1 1.				intracellular transport		binding	p.P1040R(2)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CATTTTGAACCAGTAGTTCAA	0.388000														158			40		0	0	0.000781405	0	0
CUBN	8029	broad.mit.edu	37	10	17156160	17156160	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:17156160C>T	uc001ioo.3	-	7	801	c.749G>A	c.(748-750)gGg>gAg	p.G250E		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	250					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)	AAACATCCACCCAGCATCACA	0.512000														14			4		0	0	0.00116845	0	0
ABCA8	10351	broad.mit.edu	37	17	66938079	66938079	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:66938079C>T	uc002jhq.3	-	3	436	c.96_splice	c.e3+1	p.M32_splice	ABCA8_uc002jhp.3_Splice_Site_p.M32_splice|ABCA8_uc010wqq.2_Splice_Site_p.M32_splice|ABCA8_uc010wqr.2_Intron|ABCA8_uc002jhr.3_Splice_Site_p.M32_splice|ABCA8_uc002jhs.3_Splice_Site_p.M32_splice|ABCA8_uc002jht.3_Splice_Site_p.M32_splice	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	32						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTGAGTCATACCATTAAGGAC	0.383000														71			12		0	0	0.00185496	0	0
AGPAT5	55326	broad.mit.edu	37	8	6614771	6614771	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:6614771G>A	uc003wqo.3	+	7	1269	c.957G>A	c.(955-957)aaG>aaA	p.K319K	AGPAT5_uc011kwm.2_3'UTR	NM_018361	NP_060831	Q9NUQ2	PLCE_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 5 (lysophosphatidic acid acyltransferase, epsilon) (AGPAT5), mRNA.	319					phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		TAAGTATCAAGAAGACTTTAC	0.378000														69			12		0	0	0.000978159	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142482271	142482271	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142482271C>T	uc011ksq.2	+	4	734	c.651C>T	c.(649-651)ggC>ggT	p.G217G	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		TCTCCTGGGGCTATGGCTGTG	0.517000														37			5		0	0	0.00116845	0	0
USH2A	7399	broad.mit.edu	37	1	215931972	215931972	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:215931972C>T	uc001hku.1	-	57	11741	c.11354G>A	c.(11353-11355)gGg>gAg	p.G3785E		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3785	Fibronectin type-III 23.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGAATAAGGCCCAATTACTGT	0.338000										HNSCC(13;0.011)				61			8		0	0	0.000157383	0	0
RASL10B	91608	broad.mit.edu	37	17	34067432	34067432	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:34067432G>A	uc002hju.3	+	2	587	c.221G>A	c.(220-222)tGg>tAg	p.W74*		NM_033315	NP_201572	Q96S79	RSLAB_HUMAN	Homo sapiens RAS-like, family 10, member B (RASL10B), mRNA.	74	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			breast(2)|endometrium(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTGCAGGAGTGGGCAGACACC	0.602000														30			5		0	0	0.00198382	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269510	30269510	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:30269510C>T	uc022buh.1	+	0	900	c.900C>T	c.(898-900)ttC>ttT	p.F300F	MAGEB1_uc004dcc.3_Silent_p.F300F|MAGEB1_uc004dcd.3_Silent_p.F300F|MAGEB1_uc004dce.3_Silent_p.F300F	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	300	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CCCGTGACTTCCCATCCCATT	0.512000														35			15		0	0	0.00074312	0	0
OR2W5	441932	broad.mit.edu	37	1	247655249	247655249	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:247655249C>T	uc001icz.2	+	0	880	c.820C>T	c.(820-822)Cct>Tct	p.P274S		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			AGGGGAAGTTCCTGACTCTCT	0.512000														40			7		0	0	0.000274275	0	0
SEMA6C	10500	broad.mit.edu	37	1	151111940	151111940	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:151111940G>A	uc001ewv.3	-	5	651	c.315C>T	c.(313-315)agC>agT	p.S105S	SEMA6C_uc001ewu.3_Silent_p.S105S|SEMA6C_uc001eww.3_Silent_p.S105S|SEMA6C_uc009wml.2_Non-coding_Transcript	NM_001178061	NP_001171532	Q9H3T2	SEM6C_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C (SEMA6C), transcript variant 1, mRNA.	105	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCACATCTTGGCTTCTCCATG	0.493000														71			59		0	0	0.000781405	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529998	80529998	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:80529998C>T	uc021vjt.1	-	0	947	c.947G>A	c.(946-948)tGg>tAg	p.W316*	CTNNA2_uc010yse.2_Intron|CTNNA2_uc010ysf.2_Intron|CTNNA2_uc010ysg.2_Intron|CTNNA2_uc010ysh.2_Intron|CTNNA2_uc010ysi.2_5'Flank|LRRTM1_uc002soj.3_Non-coding_Transcript|LRRTM1_uc002sok.1_Nonsense_Mutation_p.W316*	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 1 (LRRTM1), mRNA.	316	LRRCT.					axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CCCGCAATCCCACAGGTTCCC	0.627000										HNSCC(69;0.2)				10			7		0	0	0.00198382	0	0
SLC39A12	221074	broad.mit.edu	37	10	18250704	18250704	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:18250704G>A	uc001ipo.2	+	2	729	c.456G>A	c.(454-456)caG>caA	p.Q152Q	SLC39A12_uc001ipn.2_Silent_p.Q152Q|SLC39A12_uc001ipp.2_Silent_p.Q152Q|SLC39A12_uc010qck.1_Silent_p.Q18Q	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	152					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.R151R(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GCCTCAGGCAGGATGAAGATT	0.393000														44			14		0	0	0.00185496	0	0
GRB14	2888	broad.mit.edu	37	2	165381533	165381533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:165381533G>A	uc002ucl.3	-	4	1200	c.659C>T	c.(658-660)tCc>tTc	p.S220F	GRB14_uc010zcv.2_Missense_Mutation_p.S133F	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	220					blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						CTGTGTGGGGGATATTTCACC	0.289000														60			11		0	0	0.000978159	0	0
VWA2	340706	broad.mit.edu	37	10	116038530	116038530	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:116038530G>A	uc001lbl.1	+	7	1074	c.753G>A	c.(751-753)cgG>cgA	p.R251R	VWA2_uc001lbk.1_Silent_p.R251R|VWA2_uc009xyf.1_5'UTR	NM_198496	NP_940898	Q5GFL6	VWA2_HUMAN	Homo sapiens von Willebrand factor A domain containing 2 (VWA2), mRNA.	251						extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AGATGGTCCGGGAGTTCGCTG	0.637000														28			9		0	0	0.000274275	0	0
PCLO	27445	broad.mit.edu	37	7	82544691	82544691	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:82544691G>A	uc003uhx.2	-	6	12900	c.12611C>T	c.(12610-12612)tCa>tTa	p.S4204L	PCLO_uc003uhv.2_Missense_Mutation_p.S4204L|PCLO_uc010lec.3_Missense_Mutation_p.S1169L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4135					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						TTGAATAGGTGAAAATTTTGA	0.383000														28			6		0	0	0.00116845	0	0
GPT	2875	broad.mit.edu	37	8	145731462	145731462	+	Missense_Mutation	SNP	G	A	A	rs145365806		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:145731462G>A	uc003zdh.4	+	6	1127	c.904G>A	c.(904-906)Ggg>Agg	p.G302R	GPT_uc011llj.1_Missense_Mutation_p.R324Q	NM_005309	NP_005300	P24298	ALAT1_HUMAN	Homo sapiens glutamic-pyruvate transaminase (alanine aminotransferase) (GPT), mRNA.	302					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.A301T(1)		central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GCCCTACGCCGGGCAGCAGGA	0.667000														17			13		0	0	0.00185496	0	0
TNC	3371	broad.mit.edu	37	9	117819641	117819641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:117819641G>A	uc004bjj.4	-	14	4782	c.4370C>T	c.(4369-4371)tCc>tTc	p.S1457F	TNC_uc010mvf.3_Intron|TNC_uc022bmj.1_Missense_Mutation_p.S1093F	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1457	Fibronectin type-III 10.				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						AGCCATCCAGGAGAGATTGAA	0.403000														99			28		0	0	0.00283554	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147020381	147020381	+	Silent	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:147020381A>C	uc010jgo.1	-	7	1435	c.1287T>G	c.(1285-1287)ccT>ccG	p.P429P	JAKMIP2_uc003loq.1_Silent_p.P429P|JAKMIP2_uc011dbx.1_Silent_p.P387P|JAKMIP2_uc003lor.1_Silent_p.P429P|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	429						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCCAAAACAGGCCTCTAAA	0.418000														22			5		0	0	0.00198382	0	0
RANBP10	57610	broad.mit.edu	37	16	67765479	67765479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:67765479G>A	uc002eud.3	-	6	901	c.785C>T	c.(784-786)tCa>tTa	p.S262L	RANBP10_uc010ceo.3_Missense_Mutation_p.S33L|RANBP10_uc010vju.2_Missense_Mutation_p.S206L|RANBP10_uc010vjv.2_Missense_Mutation_p.S145L|RANBP10_uc010vjw.1_5'Flank|RANBP10_uc010vjx.1_Missense_Mutation_p.S262L|RANBP10_uc010vjy.1_Missense_Mutation_p.S130L	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	262	LisH.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GAGGTAAGATGAAACCATGCT	0.493000														9			6		0	0	0.00116845	0	0
CAMSAP2	23271	broad.mit.edu	37	1	200822453	200822453	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:200822453G>A	uc001gvl.3	+	13	3956	c.3686G>A	c.(3685-3687)aGa>aAa	p.R1229K	CAMSAP2_uc001gvk.3_Missense_Mutation_p.R1218K|CAMSAP2_uc001gvm.3_Missense_Mutation_p.R1202K	NM_203459	NP_982284	Q08AD1	CAMP2_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein family, member 2 (CAMSAP2), mRNA.	1229						cytoplasm|microtubule	protein binding										AGAGCACGCAGAGAATTTATT	0.368000														67			18		0	0	0.00121646	0	0
ACAN	176	broad.mit.edu	37	15	89400086	89400086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:89400086C>T	uc010upo.1	+	11	4644	c.4270C>T	c.(4270-4272)Cct>Tct	p.P1424S	ACAN_uc010upp.1_Missense_Mutation_p.P1424S|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1424					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GACTACTGCCCCTGGAGTAGA	0.532000														66			18		0	0	0.00074312	0	0
ANG	283	broad.mit.edu	37	14	21162135	21162135	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:21162135C>T	uc021rok.1	+	0	412	c.412C>T	c.(412-414)Cac>Tac	p.H138Y	ANG_uc001vxw.4_Missense_Mutation_p.H138Y|RNASE4_uc001vxy.4_Intron|RNASE4_uc001vxx.4_Intron|ANG_uc001vxz.3_Missense_Mutation_p.H138Y|RNASE4_uc001vya.3_Intron	NM_001145	NP_001136	P03950	ANGI_HUMAN	Homo sapiens angiogenin, ribonuclease, RNase A family, 5 (ANG), transcript variant 1, mRNA.	138			H -> R (in ALS9).		actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|rRNA transcription|response to hormone stimulus|response to hypoxia	angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus	actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|rRNA binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		CTTACCTGTCCACTTGGATCA	0.557000														46			13		0	0	0.000422831	0	0
CST11	140880	broad.mit.edu	37	20	23432524	23432524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:23432524C>T	uc002wtf.1	-	1	296	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	CST11_uc002wtg.1_Intron	NM_130794	NP_570612	Q9H112	CST11_HUMAN	Homo sapiens cystatin 11 (CST11), transcript variant 1, mRNA.	88					defense response to bacterium	cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity			kidney(2)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	14	Colorectal(13;0.0431)|Lung NSC(19;0.235)					CACTGCATTTCCACATTCAGG	0.562000														51			17		0	0	0.000958276	0	0
SEPP1	6414	broad.mit.edu	37	5	42801366	42801366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:42801366G>A	uc011cps.2	-	5	790	c.692C>T	c.(691-693)cCa>cTa	p.P231L	CCDC152_uc003jmx.3_3'UTR|CCDC152_uc011cpr.1_3'UTR|SEPP1_uc011cpt.2_Missense_Mutation_p.P201L|SEPP1_uc011cpu.2_Missense_Mutation_p.P201L|SEPP1_uc003jna.3_Non-coding_Transcript	NM_001093726		P49908	SEPP1_HUMAN	Homo sapiens selenoprotein P, plasma, 1 (SEPP1), transcript variant 3, mRNA.	201					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						ATGAGGCGATGGAGTTTCAAC	0.403000														118			22		0	0	0.00229938	0	0
HYAL2	8692	broad.mit.edu	37	3	50355943	50355943	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:50355943G>A	uc003czx.3	-	2	3332	c.1039C>T	c.(1039-1041)Ctg>Ttg	p.L347L	HYAL2_uc003czw.3_Silent_p.L347L|HYAL2_uc003czv.3_Silent_p.L347L	NM_033158	NP_149348	Q12891	HYAL2_HUMAN	Homo sapiens hyaluronoglucosaminidase 2 (HYAL2), transcript variant 2, mRNA.	347						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	AGCCGTGTCAGGTAATCTTTG	0.612000														31			6		0	0	0.00198382	0	0
MSGN1	343930	broad.mit.edu	37	2	17997936	17997936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:17997936C>T	uc010yjt.2	+	0	151	c.151C>T	c.(151-153)Cca>Tca	p.P51S		NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN	Homo sapiens mesogenin 1 (MSGN1), mRNA.	51					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTCCCCGGCTCCATCGCTGGA	0.642000														30			23		0	0	0.00278032	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148080974	148080974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:148080974G>A	uc003weu.2	+	21	4225	c.3709G>A	c.(3709-3711)Gat>Aat	p.D1237N	CNTNAP2_uc003wev.2_Missense_Mutation_p.D14N	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1237					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			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)			GGATCACCTGGATTCAGGTAA	0.557000										HNSCC(39;0.1)				9			20		0	0	0.00278032	0	0
GJA8	2703	broad.mit.edu	37	1	147381187	147381187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:147381187G>A	uc021ovm.1	+	0	1105	c.1105G>A	c.(1105-1107)Ggg>Agg	p.G369R	GJA8_uc001epu.2_Missense_Mutation_p.G369R	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	369					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	p.E368D(1)		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)					CGTGCCAGAGGGGGAGAAAGT	0.612000														5			4		0	0	0.00024832	0	0
NOBOX	135935	broad.mit.edu	37	7	144099029	144099029	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:144099029G>A	uc022aoj.1	-	2	225	c.225C>T	c.(223-225)ccC>ccT	p.P75P		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	75					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)					GTATCTCTAAGGGATCATGTT	0.507000														32			39		0	0	0.000781405	0	0
CD2	914	broad.mit.edu	37	1	117311391	117311391	+	Missense_Mutation	SNP	C	T	T	rs41313991	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:117311391C>T	uc001egu.4	+	4	1071	c.1042C>T	c.(1042-1044)Cct>Tct	p.P348S		NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	348				HGAAENSLSPSSN -> MGQQKTHCPLPLIKKDRNCLFQ (in Ref. 3; AAA51946).	T cell activation|blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	CTCATTGTCCCCTTCCTCTAA	0.488000														28			13		0	0	0.00185496	0	0
ACE	1636	broad.mit.edu	37	17	61571732	61571732	+	Splice_Site	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:61571732G>A	uc002jau.2	+	22	3316	c.3282_splice	c.e22-1	p.R1094_splice	ACE_uc010wpj.2_Splice_Site_p.R520_splice|ACE_uc010ddv.2_Splice_Site_p.R321_splice|ACE_uc002jav.2_Splice_Site_p.R520_splice|ACE_uc002jaw.2_Splice_Site|ACE_uc010wpk.2_Splice_Site_p.R340_splice	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	1094	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCACTCGACAGGCTGAAGTAC	0.557000														24			8		0	0	0.000442599	0	0
LRIT2	340745	broad.mit.edu	37	10	85984273	85984273	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:85984273G>A	uc010qmc.2	-	1	716	c.708C>T	c.(706-708)tcC>tcT	p.S236S	LRIT2_uc001kcy.3_Silent_p.S236S	NM_001017924	NP_001017924	A6NDA9	LRIT2_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 2 (LRIT2), mRNA.	236	LRRCT.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						GCCCTGCCTTGGACAGAGGGC	0.517000														52			7		0	0	0.000274275	0	0
GJA8	2703	broad.mit.edu	37	1	147380093	147380093	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:147380093G>A	uc021ovm.1	+	0	11	c.11G>A	c.(10-12)tGg>tAg	p.W4*	GJA8_uc001epu.2_Nonsense_Mutation_p.W4*	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	4					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)					ATGGGCGACTGGAGTTTCCTG	0.537000														42			34		0	0	0.00170553	0	0
FAAH	2166	broad.mit.edu	37	1	46878863	46878863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:46878863G>A	uc001cpu.2	+	13	1664	c.1582G>A	c.(1582-1584)Ggg>Agg	p.G528R	FAAH_uc001cpv.2_Non-coding_Transcript	NM_001441	NP_001432	O00519	FAAH1_HUMAN	Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	528					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GGGCTACTTTGGGGATATCTG	0.577000														19			4		0	0	0.00116845	0	0
MYH8	4626	broad.mit.edu	37	17	10304276	10304276	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:10304276C>T	uc002gmm.2	-	26	3350	c.3255_splice	c.e26-1	p.K1085_splice	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1085					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CAAATTCTTTCCTTTAGACAG	0.333000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					37			19		0	0	0.00074312	0	0
PTPN11	5781	broad.mit.edu	37	12	112888197	112888197	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:112888197T>A	uc001ttx.3	+	2	593	c.213T>A	c.(211-213)ttT>ttA	p.F71L	PTPN11_uc001ttw.1_Missense_Mutation_p.F71L	NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	71	SH2 1.		F -> K (in acute myeloid leukemia; requires 2 nucleotide substitutions).|F -> L (in myelodysplastic syndrome).		T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.F71L(12)|p.F71K(3)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GGGAGAAATTTGCCACTTTGG	0.418000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome					75			20		0	0	0.00152264	0	0
TAB1	10454	broad.mit.edu	37	22	39814842	39814842	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:39814842C>T	uc003axt.3	+	5	705	c.656C>T	c.(655-657)tCg>tTg	p.S219L	TAB1_uc003axr.3_Missense_Mutation_p.S295L|TAB1_uc011aok.2_Missense_Mutation_p.S53L|TAB1_uc003axu.1_Missense_Mutation_p.S219L	NM_006116	NP_006107	Q15750	TAB1_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 1 (TAB1), transcript variant alpha, mRNA.	219	PP2C-like.				I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB 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	cytosol|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TTCCGTCTTTCGCAGCTGGGT	0.582000														23			7		0	0	0.00198382	0	0
OR2W5	441932	broad.mit.edu	37	1	247655354	247655354	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:247655354G>C	uc001icz.2	+	0	985	c.925G>C	c.(925-927)Gaa>Caa	p.E309Q		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGGGTGGGAGAAAGGGGCTG	0.498000														33			13		0	0	0.00185496	0	0
PPFIA1	8500	broad.mit.edu	37	11	70194463	70194463	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:70194463C>T	uc001opo.3	+	15	2315	c.2100C>T	c.(2098-2100)tcC>tcT	p.S700S	PPFIA1_uc001opn.2_Silent_p.S700S|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.	700					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)			GTGGGCGCTCCACCCCACGAA	0.597000														78			13		0	0	0.000566183	0	0
CDC20B	166979	broad.mit.edu	37	5	54423127	54423127	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:54423127G>A	uc003jpo.2	-	7	1124	c.947C>T	c.(946-948)tCa>tTa	p.S316L	CDC20B_uc003jpn.2_Missense_Mutation_p.S316L|CDC20B_uc010ivu.2_Missense_Mutation_p.S316L|CDC20B_uc010ivv.2_Missense_Mutation_p.S316L	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	316										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			CCCAACTACTGACAAATGACC	0.408000														60			25		0	0	0.00178596	0	0
ZNF107	51427	broad.mit.edu	37	7	64166713	64166713	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:64166713C>T	uc003ttd.3	+	6	817	c.31C>T	c.(31-33)Cat>Tat	p.H11Y	ZNF107_uc003tte.3_Missense_Mutation_p.H11Y	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				AATGTCTTTTCATTTTGCCCA	0.299000														94			9		0	0	0.000978159	0	0
RUNX1T1	862	broad.mit.edu	37	8	92988143	92988143	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:92988143C>T	uc022axs.1	-	9	1702	c.1515G>A	c.(1513-1515)tgG>tgA	p.W505*	RUNX1T1_uc003yfc.2_Nonsense_Mutation_p.W419*|RUNX1T1_uc010mam.3_Nonsense_Mutation_p.W419*|RUNX1T1_uc003yfe.2_Nonsense_Mutation_p.W409*|RUNX1T1_uc003yfd.3_Nonsense_Mutation_p.W446*|RUNX1T1_uc022axo.1_Nonsense_Mutation_p.W446*|RUNX1T1_uc010mao.3_Nonsense_Mutation_p.W419*|RUNX1T1_uc011lgi.2_Nonsense_Mutation_p.W457*|RUNX1T1_uc022axp.1_Nonsense_Mutation_p.W446*|RUNX1T1_uc022axq.1_Nonsense_Mutation_p.W446*|RUNX1T1_uc022axr.1_Nonsense_Mutation_p.W446*|RUNX1T1_uc022axt.1_Nonsense_Mutation_p.W446*|RUNX1T1_uc022axu.1_Nonsense_Mutation_p.W426*|RUNX1T1_uc022axv.1_Nonsense_Mutation_p.W446*|RUNX1T1_uc010man.2_Nonsense_Mutation_p.W71*|RUNX1T1_uc003yfb.2_Nonsense_Mutation_p.W409*	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.	446					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)			CAGCTTTCTTCCAGATCTCCT	0.473000														152			15		0	0	0.000566183	0	0
BCAS3	54828	broad.mit.edu	37	17	59093262	59093262	+	Splice_Site	SNP	G	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:59093262G>T	uc002iyv.4	+	16	1746	c.1637_splice	c.e16+1	p.G546_splice	BCAS3_uc010wow.1_Splice_Site_p.G333_splice|BCAS3_uc002iyu.4_Splice_Site_p.G546_splice|BCAS3_uc002iyw.4_Splice_Site_p.G542_splice|BCAS3_uc002iyy.4_Splice_Site_p.G317_splice|BCAS3_uc002iyz.4_Splice_Site_p.G100_splice|BCAS3_uc002iza.4_Splice_Site_p.G100_splice	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	546						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)			AAACGAACCGGGTAAGGCCTT	0.413000														70			19		7.41877e-09	2.50172e-08	0.00188189	1	0
CAPN6	827	broad.mit.edu	37	X	110490610	110490610	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:110490610G>A	uc004epc.2	-	11	1920	c.1729C>T	c.(1729-1731)Cct>Tct	p.P577S	CAPN6_uc011msu.2_Missense_Mutation_p.P322S	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	577	C2.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	p.P577L(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ACTATAATAGGAATGTCAGTG	0.428000														72			26		0	0	0.00127121	0	0
CYR61	3491	broad.mit.edu	37	1	86048110	86048110	+	Missense_Mutation	SNP	G	A	A	rs149037713		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:86048110G>A	uc001dle.3	+	3	870	c.646G>A	c.(646-648)Gag>Aag	p.E216K	CYR61_uc021opf.1_3'UTR	NM_001554	NP_001545	O00622	CYR61_HUMAN	Homo sapiens cysteine-rich, angiogenic inducer, 61 (CYR61), mRNA.	216					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)		TTTTGGAATGGAGCCTCGCAT	0.433000											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			9		0	0	0.000978159	0	0
CSMD2	114784	broad.mit.edu	37	1	34037281	34037281	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:34037281C>T	uc001bxm.1	-	50	7985	c.7808G>A	c.(7807-7809)cGa>cAa	p.R2603Q	CSMD2_uc001bxn.1_Missense_Mutation_p.R2605Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2605	Sushi 16.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAGCCTCCATCGGCCATGCTC	0.483000														50			7		0	0	0.000274275	0	0
FIZ1	84922	broad.mit.edu	37	19	56104030	56104030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:56104030G>A	uc002qli.4	-	2	1367	c.1277C>T	c.(1276-1278)cCg>cTg	p.P426L	FIZ1_uc002qlj.4_Missense_Mutation_p.P426L	NM_032836	NP_116225	Q96SL8	FIZ1_HUMAN	Homo sapiens FLT3-interacting zinc finger 1 (FIZ1), mRNA.	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CAGGTCTCGCGGTGAGCGGAA	0.677000														21			5		0	0	0.00198382	0	0
NOS1AP	9722	broad.mit.edu	37	1	162302877	162302877	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:162302877A>C	uc001gbv.2	+	4	802	c.415A>C	c.(415-417)Aat>Cat	p.N139H	NOS1AP_uc010pkr.1_Missense_Mutation_p.N134H|NOS1AP_uc001gbw.2_Missense_Mutation_p.N134H|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	139	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			TGGTGCCAGCAATATCTTCAG	0.433000														59			4		0	0	0.00116845	0	0
TTC12	54970	broad.mit.edu	37	11	113210175	113210175	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:113210175C>T	uc001pnv.3	+	9	928	c.823C>T	c.(823-825)Ctg>Ttg	p.L275L	TTC12_uc001pnu.3_Silent_p.L269L|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Silent_p.L119L	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	269							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GATTGAGATCCTGACTGAAAT	0.502000														52			18		0	0	0.00229938	0	0
ANKH	56172	broad.mit.edu	37	5	14758589	14758589	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:14758589C>T	uc003jfm.4	-	3	763	c.432_splice	c.e3+1	p.M144_splice		NM_054027	NP_473368	Q9HCJ1	ANKH_HUMAN	Homo sapiens ankylosis, progressive homolog (mouse) (ANKH), mRNA.	144					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CTCTACTCACCATTGCGTCCA	0.413000														37			5		0	0	0.00116845	0	0
RYR2	6262	broad.mit.edu	37	1	237982470	237982470	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:237982470C>T	uc001hyl.1	+	100	14688	c.14568C>T	c.(14566-14568)gtC>gtT	p.V4856V	RYR2_uc010pyb.1_Silent_p.V289V	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4856					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGTTATTGTCATTCTCTTGG	0.408000														115			17		0	0	0.00074312	0	0
ODZ4	26011	broad.mit.edu	37	11	78380703	78380703	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:78380703C>T	uc001ozl.4	-	31	7150	c.6687G>A	c.(6685-6687)ggG>ggA	p.G2229G	ODZ4_uc001ozk.4_Silent_p.G454G	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2229					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GTGCACTGTTCCCAGGGCTCA	0.567000														44			31		0	0	0.0024448	0	0
PKIG	11142	broad.mit.edu	37	20	43246937	43246937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:43246937G>A	uc002xmg.3	+	5	692	c.163G>A	c.(163-165)Gag>Aag	p.E55K	PKIG_uc002xmh.3_Missense_Mutation_p.E55K|PKIG_uc002xmi.3_Missense_Mutation_p.E55K	NM_181805	NP_861521	Q9Y2B9	IPKG_HUMAN	Homo sapiens protein kinase (cAMP-dependent, catalytic) inhibitor gamma (PKIG), transcript variant 1, mRNA.	55							cAMP-dependent protein kinase inhibitor activity|protein binding			breast(1)|urinary_tract(1)	2		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.001)|COAD - Colon adenocarcinoma(18;0.00189)			AGGACAGGTGGAGGGAAGCGC	0.537000														124			22		0	0	0.00106085	0	0
MRO	83876	broad.mit.edu	37	18	48327874	48327874	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:48327874C>T	uc010dpa.3	-	5	621	c.472_splice	c.e5-1	p.E158_splice	MRO_uc010xdn.2_Intron|MRO_uc002lew.4_Splice_Site_p.E144_splice|MRO_uc010dpb.3_Intron|MRO_uc010dpc.3_Intron|MRO_uc002lex.4_Splice_Site_p.E144_splice	NM_001127176	NP_001120648	Q9BYG7	MSTRO_HUMAN	Homo sapiens maestro (MRO), transcript variant 4, mRNA.	144						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		CTGTCGTTCTCCTGCGGTCCC	0.463000														142			20		0	0	0.00047179	0	0
OBSCN	84033	broad.mit.edu	37	1	228475408	228475408	+	Silent	SNP	G	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:228475408G>T	uc009xez.1	+	35	9602	c.9558G>T	c.(9556-9558)cgG>cgT	p.R3186R	OBSCN_uc001hsn.3_Silent_p.R3186R|OBSCN_uc001hsq.1_Silent_p.R442R	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3186	Ig-like 32.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCCAGTGCGGTTCCAGGAGG	0.647000														22			10		4.36969e-10	1.47462e-09	0.00185496	1	0
ZNF556	80032	broad.mit.edu	37	19	2876090	2876090	+	Splice_Site	SNP	G	A	A	rs144545156	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:2876090G>A	uc002lwp.1	+	3	218	c.131_splice	c.e3-1	p.D44_splice	ZNF556_uc002lwq.3_Splice_Site_p.D44_splice	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	44	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTTGTTTCAGATAATGAGGC	0.338000														209			40		0	0	0.000781405	0	0
PUS7	54517	broad.mit.edu	37	7	105121519	105121519	+	Silent	SNP	G	A	A	rs137934853	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:105121519G>A	uc010lji.3	-	8	1181	c.1173C>T	c.(1171-1173)gtC>gtT	p.V391V	PUS7_uc003vcx.3_Silent_p.V385V|PUS7_uc003vcy.3_Silent_p.V385V|PUS7_uc003vcz.1_Silent_p.V385V	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA.	385	TRUD.				pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GATACGTAGGGACAGCTGTGG	0.363000														85			16		0	0	0.000566183	0	0
DBC1	1620	broad.mit.edu	37	9	121929778	121929778	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:121929778G>A	uc004bkc.2	-	7	2326	c.1870C>T	c.(1870-1872)Cgg>Tgg	p.R624W		NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	624					cell cycle arrest|cell death	cytoplasm	protein binding	p.R624Q(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						GTAGGTAGCCGAGTCCGACTA	0.542000														45			25		0	0	0.00278032	0	0
HLA-DQA2	3118	broad.mit.edu	37	6	32713734	32713734	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:32713734G>A	uc003obx.3	+	2	556	c.498G>A	c.(496-498)aaG>aaA	p.K166K		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	166	Alpha-2.|Ig-like C1-type.				T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	Golgi apparatus|MHC class II protein complex|endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane|lysosomal membrane	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCTCTCCAAGAGTGATCATT	0.512000														144			12		0	0	0.00136819	0	0
KRT3	3850	broad.mit.edu	37	12	53189777	53189777	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:53189777G>A	uc001say.3	-	0	116	c.50C>T	c.(49-51)tCc>tTc	p.S17F		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	17	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						AGAGCGGCCGGAGAAACCCTG	0.617000														24			7		0	0	0.00198382	0	0
ZNF33A	7581	broad.mit.edu	37	10	38344756	38344756	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:38344756C>T	uc010qev.2	+	3	1826	c.1722C>T	c.(1720-1722)ctC>ctT	p.L574L	ZNF33A_uc001izg.3_Silent_p.L568L|ZNF33A_uc001izh.3_Silent_p.L567L|ZNF33A_uc001izi.1_Intron|ZNF33A_uc021ppe.1_Silent_p.L568L	NM_006974	NP_008905	Q06730	ZN33A_HUMAN	Homo sapiens zinc finger protein 33A (ZNF33A), transcript variant 2, mRNA.	567						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AGTCAACCCTCTCTCAACATT	0.398000														34			10		0	0	0.000673444	0	0
RUNDC3B	154661	broad.mit.edu	37	7	87370852	87370852	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:87370852C>T	uc003ujb.3	+	6	1048	c.637C>T	c.(637-639)Cct>Tct	p.P213S	RUNDC3B_uc011khd.1_Missense_Mutation_p.P196S|RUNDC3B_uc011khe.2_Missense_Mutation_p.P196S|RUNDC3B_uc003ujc.3_Missense_Mutation_p.P196S|RUNDC3B_uc003ujd.3_Missense_Mutation_p.P118S	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.	213										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TGGCAGTTTTCCTGCTGTAAT	0.274000														56			8		0	0	0.000442599	0	0
CYP2J2	1573	broad.mit.edu	37	1	60381647	60381647	+	Silent	SNP	G	A	A	rs138732194	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:60381647G>A	uc001czq.3	-	1	341	c.336C>T	c.(334-336)ccC>ccT	p.P112P		NM_000775	NP_000766	P51589	CP2J2_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily J, polypeptide 2 (CYP2J2), mRNA.	112					epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	p.P112P(2)		NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)					TAGGGGTCACGGGGCGGTTCC	0.423000														45			13		0	0	0.000422831	0	0
ANPEP	290	broad.mit.edu	37	15	90335554	90335554	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:90335554G>A	uc002bop.4	-	17	2657	c.2365C>T	c.(2365-2367)Cac>Tac	p.H789Y		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	789	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	AGGTTGGGGTGGATCCTGGTG	0.642000														35			15		0	0	0.000308642	0	0
C10orf12	26148	broad.mit.edu	37	10	98742644	98742644	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:98742644C>T	uc001kmv.3	+	0	1604	c.1497C>T	c.(1495-1497)ttC>ttT	p.F499F		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	499										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GTAAAAAATTCCCTGAGGCCT	0.418000														36			23		0	0	0.00047179	0	0
MUC16	94025	broad.mit.edu	37	19	9049400	9049400	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9049400G>A	uc002mkp.3	-	4	32435	c.32231C>T	c.(32230-32232)tCt>tTt	p.S10744F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10746	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						GTCTGTCCCAGAACTAGTGAC	0.468000														77			5		0	0	0.000602214	0	0
C1orf94	84970	broad.mit.edu	37	1	34663234	34663234	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:34663234C>T	uc001bxt.3	+	1	1567	c.729C>T	c.(727-729)ttC>ttT	p.F243F	C1orf94_uc001bxs.4_Silent_p.F53F	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	53							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TGTCCCAGTTCCCACTGAAGT	0.547000														27			4		0	0	0.000602214	0	0
abParts	0	broad.mit.edu	37	14	106757778	106757778	+	RNA	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:106757778C>T	uc021ser.1	-	749		c.19600G>A								Parts of antibodies, mostly variable regions.																		TAGGATTTTTCGTCATTCGAA	0.532000														27			7		0	0	0.00198382	0	0
MED13L	23389	broad.mit.edu	37	12	116444160	116444160	+	Silent	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:116444160C>A	uc001tvw.3	-	11	2350	c.2295G>T	c.(2293-2295)gtG>gtT	p.V765V		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	765					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent			p.V765V(2)		NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TCCCATCAGGCACCGGCGTGG	0.413000														53			12		2.61681e-11	8.83524e-11	0.00244969	1	0
FOXP2	93986	broad.mit.edu	37	7	114299459	114299459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:114299459C>T	uc003vhb.3	+	11	1891	c.1517C>T	c.(1516-1518)cCa>cTa	p.P506L	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.P531L|FOXP2_uc003vha.3_Missense_Mutation_p.P414L|FOXP2_uc011kmv.2_Missense_Mutation_p.P505L|FOXP2_uc011kmu.2_Missense_Mutation_p.P523L|FOXP2_uc010ljz.2_Intron|FOXP2_uc003vhe.1_Missense_Mutation_p.P76L	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	506					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GTCAGACCTCCATTTACTTAT	0.284000														128			13		0	0	0.00244969	0	0
ABRA	137735	broad.mit.edu	37	8	107782336	107782336	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:107782336C>T	uc003ymm.4	-	0	137	c.83G>A	c.(82-84)aGc>aAc	p.S28N		NM_139166	NP_631905	Q8N0Z2	ABRA_HUMAN	Homo sapiens actin-binding Rho activating protein (ABRA), mRNA.	28					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			TCGGGCCAAGCTGATGACCAG	0.647000														52			12		0	0	0.00136819	0	0
FUT9	10690	broad.mit.edu	37	6	96651129	96651129	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:96651129C>T	uc003pop.4	+	2	439	c.98C>T	c.(97-99)aCc>aTc	p.T33I	FUT9_uc021zcw.1_Missense_Mutation_p.T33I	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	33					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.T33A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		ATCAAACCTACCAACAGCTGG	0.368000														20			5		0	0	0.000602214	0	0
SYK	6850	broad.mit.edu	37	9	93639981	93639981	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:93639981G>A	uc004aqz.3	+	9	1515	c.1310G>A	c.(1309-1311)gGg>gAg	p.G437E	SYK_uc004ara.3_Missense_Mutation_p.G414E|SYK_uc004arb.3_Missense_Mutation_p.G414E|SYK_uc004arc.3_Missense_Mutation_p.G437E|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	437	Protein kinase.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						CGGATGATCGGGATATGCGAG	0.507000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									10			17		0	0	0.000958276	0	0
GNAT3	346562	broad.mit.edu	37	7	80117911	80117911	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:80117911G>A	uc011kgu.2	-	2	243	c.243C>T	c.(241-243)atC>atT	p.I81I	CD36_uc003uhc.3_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.	81					G-protein signaling, coupled to cAMP nucleotide second messenger|detection of chemical stimulus involved in sensory perception of bitter taste|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						CAATAGCTAGGATGGATTGCA	0.358000														15			5		0	0	0.00198382	0	0
MTSS1	9788	broad.mit.edu	37	8	125575043	125575043	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:125575043G>A	uc003yrl.2	-	10	1561	c.1027C>T	c.(1027-1029)Ccg>Tcg	p.P343S	NDUFB9_uc011lim.1_Intron|MTSS1_uc011lin.1_Missense_Mutation_p.P73S|MTSS1_uc011lio.1_Missense_Mutation_p.P229S|MTSS1_uc003yri.2_Missense_Mutation_p.P139S|MTSS1_uc003yrj.2_Missense_Mutation_p.P339S|MTSS1_uc003yrk.2_Missense_Mutation_p.P339S	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	339	Ser-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	SH3 domain binding|actin monomer binding|cytoskeletal adaptor activity|receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GCCTCTGGCGGCATGGGGGAT	0.612000														49			15		0	0	0.00074312	0	0
STMN4	81551	broad.mit.edu	37	8	27098663	27098664	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:27098663_27098664CC>TT	uc011lak.2	-	4	420_421	c.306_307GG>AA	c.(304-309)ggggtt>ggAAtt	p.V103I	STMN4_uc003xfj.3_Missense_Mutation_p.V103I|STMN4_uc011lai.2_Missense_Mutation_p.V103I|STMN4_uc011laj.2_Missense_Mutation_p.V67I|STMN4_uc003xfk.3_Missense_Mutation_p.V76I|STMN4_uc010luo.3_Missense_Mutation_p.V76I	NM_030795	NP_110422	Q9H169	STMN4_HUMAN	Homo sapiens stathmin-like 4 (STMN4), mRNA.	76					intracellular signal transduction					endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	11		Ovarian(32;0.00167)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0214)|Epithelial(17;9.82e-10)|Colorectal(74;0.142)		AACTCGGGAACCCCATCAAAGG	0.540000														55			12		0	0	6.4e-05	0	0
DNAH8	1769	broad.mit.edu	37	6	38830154	38830154	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:38830154G>A	uc021yzh.1	+	43	6339	c.6230G>A	c.(6229-6231)gGa>gAa	p.G2077E	DNAH8_uc003ooe.2_Missense_Mutation_p.G1860E	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						AAAGACATGGGAAGGTGTTTG	0.463000														74			72		0	0	0.000781405	0	0
KAT6B	23522	broad.mit.edu	37	10	76603188	76603188	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:76603188C>T	uc001jwn.1	+	2	1066	c.573C>T	c.(571-573)ttC>ttT	p.F191F	KAT6B_uc001jwm.1_Silent_p.F191F|KAT6B_uc001jwo.1_Silent_p.F191F|KAT6B_uc001jwp.1_Silent_p.F191F	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	191					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										CCAGTGCATTCCCATCCTCGC	0.502000														30			11		0	0	0.000673444	0	0
TCEB3C	162699	broad.mit.edu	37	18	44554652	44554652	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:44554652C>T	uc010xdb.2	-	0	1798	c.1562G>A	c.(1561-1563)cGa>cAa	p.R521Q	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						AGCCTGTTTTCGGGTTTTGTc	0.652000														177			12		0	0	0.00121646	0	0
PRSS1	5644	broad.mit.edu	37	7	142459835	142459835	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142459835G>A	uc003wak.2	+	2	428	c.411G>A	c.(409-411)acG>acA	p.T137T	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Silent_p.T77T	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	137	Peptidase S1.		T -> M (in a colorectal cancer sample; somatic mutation).		digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.T137T(4)|p.T137M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			CCACTGGCACGAAGTGCCTCA	0.552000														55			12		0	0	0.000422831	0	0
FAM75E1	286234	broad.mit.edu	37	9	90500615	90500615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:90500615C>T	uc004app.4	+	3	1248	c.1213C>T	c.(1213-1215)Ccc>Tcc	p.P405S	FAM75E1_uc004apo.1_Missense_Mutation_p.P217S	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	405						integral to membrane											GACCCTAAATCCCTTCTGGAA	0.562000														15			17		0	0	0.000566183	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576483	158576483	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158576483G>A	uc010pio.2	+	0	255	c.255G>A	c.(253-255)ctG>ctA	p.L85L		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCTCTGGCCTGGCTGGGGGGG	0.547000														42			20		0	0	0.00188189	0	0
EML4	27436	broad.mit.edu	37	2	42488356	42488356	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:42488356C>T	uc002rsi.3	+	3	696	c.434C>T	c.(433-435)cCt>cTt	p.P145L	EML4_uc002rsh.4_Missense_Mutation_p.P145L|EML4_uc010fap.3_Intron	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	Homo sapiens echinoderm microtubule associated protein like 4 (EML4), transcript variant 1, mRNA.	145					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						CGAGCATCACCTTCTCCCCAG	0.408000			T	ALK	NSCLC									45			12		0	0	0.00136819	0	0
SLC6A3	6531	broad.mit.edu	37	5	1441563	1441563	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:1441563C>T	uc003jck.3	-	2	455	c.329G>A	c.(328-330)gGg>gAg	p.G110E		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	110					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AAGTGGCATCCCAGCAATGAC	0.572000														26			8		0	0	0.000442599	0	0
MDC1	9656	broad.mit.edu	37	6	30672849	30672849	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:30672849G>A	uc003nrg.4	-	9	4551	c.4111C>T	c.(4111-4113)Cct>Tct	p.P1371S	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Missense_Mutation_p.P978S	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1371	Interaction with the PRKDC complex.|Pro-rich.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding	p.P1371T(1)		breast(2)|kidney(1)|ovary(1)	4						GGGAGCTCAGGGGCTATAGGG	0.552000								Other conserved DNA damage response genes						152			21		0	0	0.000720815	0	0
ADD1	118	broad.mit.edu	37	4	2886287	2886287	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:2886287C>T	uc003gfq.3	+	3	592	c.404C>T	c.(403-405)tCt>tTt	p.S135F	ADD1_uc010ico.1_Missense_Mutation_p.S135F|ADD1_uc003gfo.3_Missense_Mutation_p.S135F|ADD1_uc003gfp.3_Missense_Mutation_p.S135F|ADD1_uc003gfr.3_Missense_Mutation_p.S135F|ADD1_uc003gfs.3_Missense_Mutation_p.S135F|ADD1_uc003gft.3_Missense_Mutation_p.S135F|ADD1_uc003gfu.3_5'Flank	NM_014189	NP_054908	P35611	ADDA_HUMAN	Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.	135					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	F-actin capping protein complex|cytosol|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGATCTGATTCTATTGCGTAT	0.418000														126			32		0	0	0.00128727	0	0
GAS2L2	246176	broad.mit.edu	37	17	34072405	34072405	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:34072405C>T	uc002hjv.2	-	5	2139	c.2111G>A	c.(2110-2112)aGg>aAg	p.R704K		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	704					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCCTTTGTCCTGGGCCCACT	0.637000														73			29		0	0	0.000953801	0	0
SPTA1	6708	broad.mit.edu	37	1	158609424	158609424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158609424C>T	uc001fst.1	-	34	5127	c.4928G>A	c.(4927-4929)gGa>gAa	p.G1643E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1643					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)					GAGTAGGTTTCCTGCTGAAGC	0.468000														63			9		0	0	0.000442599	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529539	80529539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:80529539C>T	uc021vjt.1	-	0	1406	c.1406G>A	c.(1405-1407)aGg>aAg	p.R469K	CTNNA2_uc010yse.2_Intron|CTNNA2_uc010ysf.2_Intron|CTNNA2_uc010ysg.2_Intron|CTNNA2_uc010ysh.2_Intron|CTNNA2_uc010ysi.2_5'Flank|LRRTM1_uc002soj.3_Non-coding_Transcript|LRRTM1_uc002sok.1_Missense_Mutation_p.R469K	NM_178839	NP_849161	Q86UE6	LRRT1_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 1 (LRRTM1), mRNA.	469						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CTTTTGCTTCCTGCGCTGCGT	0.537000										HNSCC(69;0.2)				28			5		0	0	0.000602214	0	0
ZEB1	6935	broad.mit.edu	37	10	31810846	31810846	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:31810846C>T	uc001ivs.4	+	6	2646	c.2583C>T	c.(2581-2583)atC>atT	p.I861I	ZEB1_uc001ivr.4_Silent_p.I643I|ZEB1_uc010qef.2_Silent_p.I643I|ZEB1_uc009xlj.1_Silent_p.I787I|ZEB1_uc010qeg.1_Silent_p.I720I|ZEB1_uc009xlk.1_Silent_p.I643I|ZEB1_uc001ivu.4_Silent_p.I862I|ZEB1_uc010qeh.2_Silent_p.I794I|ZEB1_uc001ivv.4_Silent_p.I841I|ZEB1_uc001ivt.4_Silent_p.I643I|ZEB1_uc009xlo.2_Silent_p.I844I|ZEB1_uc009xlp.3_Silent_p.I845I	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	861					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGAAAGTGATCCAGCCAAATG	0.418000														13			5		0	0	0.000602214	0	0
C3orf36	80111	broad.mit.edu	37	3	133647515	133647515	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:133647515C>T	uc003epz.1	-	0	1142	c.133G>A	c.(133-135)Gcc>Acc	p.A45T		NM_025041	NP_079317	Q3SXR2	CC036_HUMAN	Homo sapiens chromosome 3 open reading frame 36 (C3orf36), mRNA.	45										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						GGCTCTAAGGCCATTCCTCCA	0.632000														20			5		0	0	0.00198382	0	0
SYBU	55638	broad.mit.edu	37	8	110587583	110587583	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:110587583G>A	uc010mcp.3	-	7	1906	c.1544C>T	c.(1543-1545)cCc>cTc	p.P515L	SYBU_uc003yni.4_Missense_Mutation_p.P512L|SYBU_uc003ynk.4_Missense_Mutation_p.P396L|SYBU_uc003ynj.4_Missense_Mutation_p.P515L|SYBU_uc010mco.3_Missense_Mutation_p.P514L|SYBU_uc003ynl.4_Missense_Mutation_p.P514L|SYBU_uc010mcq.3_Missense_Mutation_p.P515L|SYBU_uc003yno.4_Missense_Mutation_p.P396L|SYBU_uc010mcr.3_Missense_Mutation_p.P515L|SYBU_uc003ynm.4_Missense_Mutation_p.P514L|SYBU_uc003ynn.4_Missense_Mutation_p.P514L|SYBU_uc010mcs.3_Missense_Mutation_p.P396L|SYBU_uc010mct.3_Missense_Mutation_p.P515L|SYBU_uc010mcu.3_Missense_Mutation_p.P514L|SYBU_uc003ynp.4_Missense_Mutation_p.P447L|SYBU_uc010mcv.3_Missense_Mutation_p.P515L|SYBU_uc003ynh.4_Missense_Mutation_p.P309L|SYBU_uc011lhw.2_Missense_Mutation_p.P385L	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	515						Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CAAGCTCGAGGGACAGGGGTC	0.572000														61			15		0	0	0.000422831	0	0
BRE	9577	broad.mit.edu	37	2	28550225	28550225	+	Silent	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:28550225C>A	uc002rls.3	+	11	1425	c.1173C>A	c.(1171-1173)ctC>ctA	p.L391L	BRE_uc002rlp.1_Intron|BRE_uc002rlq.3_Intron|BRE_uc002rlr.3_Intron|BRE_uc002rlt.3_Intron|BRE_uc002rlu.3_Intron|BRE_uc002rlv.3_Intron	NM_004899	NP_004890	Q9NXR7	BRE_HUMAN	Homo sapiens brain and reproductive organ-expressed (TNFRSF1A modulator) (BRE), transcript variant 1, mRNA.	0					G2/M transition DNA damage checkpoint|apoptosis|chromatin modification|double-strand break repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					GCAAGCTGCTCCAGCCCCAGA	0.557000														49			42		5.73435e-26	1.94237e-25	0.000781405	1	0
PDE4DIP	9659	broad.mit.edu	37	1	144864154	144864155	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:144864154_144864155GG>TT	uc021ouh.1	-	35	6242_6243	c.5940_5941CC>AA	c.(5938-5943)tccctc>tcAAtc	p.L1981I	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.L1981I|PDE4DIP_uc001elx.4_Missense_Mutation_p.L1875I|PDE4DIP_uc001elv.4_Missense_Mutation_p.L988I|PDE4DIP_uc001ema.3_Missense_Mutation_p.L168I	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1981					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	p.S1980S(3)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTTTCCTGGAGGGAAAGACGTT	0.470000			T	PDGFRB	MPD									308			15		0	0	6.4e-05	0	0
WBSCR28	135886	broad.mit.edu	37	7	73279510	73279510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:73279510C>T	uc003tzk.2	+	1	296	c.260C>T	c.(259-261)cCc>cTc	p.P87L	WBSCR28_uc003tzl.2_5'UTR	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA.	87						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				ATACAGGTCCCCGTATGGCTG	0.692000														40			5		0	0	0.000602214	0	0
ADCY5	111	broad.mit.edu	37	3	123071317	123071317	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:123071317G>A	uc003egh.2	-	1	1246	c.1246C>T	c.(1246-1248)Cag>Tag	p.Q416*	ADCY5_uc021xdd.1_Nonsense_Mutation_p.Q66*|ADCY5_uc003egg.2_Nonsense_Mutation_p.Q49*|ADCY5_uc003egi.1_5'UTR	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	416					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding	p.I415fs*46(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AGCCGCGCCTGGATGCACTCT	0.612000														26			6		0	0	0.00198382	0	0
HOXA3	3200	broad.mit.edu	37	7	27148090	27148090	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:27148090G>A	uc011jzl.2	-	2	976	c.776C>T	c.(775-777)tCg>tTg	p.S259L	HOXA3_uc003syk.3_Missense_Mutation_p.S259L	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	259					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CTGGCCCCCCGATGACGTTAG	0.577000														77			13		0	0	0.000308642	0	0
ZNF678	339500	broad.mit.edu	37	1	227843398	227843398	+	Missense_Mutation	SNP	C	T	T	rs116247928	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:227843398C>T	uc021pjy.1	+	3	1788	c.1612C>T	c.(1612-1614)Cat>Tat	p.H538Y	ZNF678_uc001hqw.2_Missense_Mutation_p.H483Y|ZNF678_uc009xet.2_Intron|ZNF678_uc009xeu.2_Intron	NM_178549	NP_848644	F5GXA7	F5GXA7_HUMAN	Homo sapiens zinc finger protein 678 (ZNF678), transcript variant 1, mRNA.	538					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				TAAAAGAATTCATACTGGAGA	0.358000														26			6		0	0	0.00116845	0	0
FAM220A	84792	broad.mit.edu	37	7	6370348	6370348	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:6370348G>A	uc003spu.3	-	1	906	c.438C>T	c.(436-438)ccC>ccT	p.P146P	FAM220A_uc021zzf.1_Silent_p.P146P	NM_001037163	NP_001032240	Q7Z4H9	SIPAR_HUMAN	Homo sapiens chromosome 7 open reading frame 70 (C7orf70), mRNA.	146						nucleus											GCTCTCCTTTGGGGCACTGTC	0.607000														13			31		0	0	0.00209593	0	0
RHAG	6005	broad.mit.edu	37	6	49583458	49583458	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:49583458C>T	uc003ozk.4	-	3	581	c.519G>A	c.(517-519)acG>acA	p.T173T	RHAG_uc010jzl.3_Silent_p.T173T|RHAG_uc010jzm.3_Silent_p.T173T	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	173					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AGGCATGGATCGTCATTGATG	0.458000														61			11		0	0	0.000978159	0	0
CNPPD1	27013	broad.mit.edu	37	2	220040323	220040323	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:220040323G>A	uc002vju.4	-	2	402	c.250C>T	c.(250-252)Cat>Tat	p.H84Y	CNPPD1_uc002vjv.3_Missense_Mutation_p.H84Y|FAM134A_uc010fwc.3_5'Flank|FAM134A_uc002vjw.4_5'Flank	NM_015680	NP_056495	Q9BV87	CNPD1_HUMAN	Homo sapiens cyclin Pas1/PHO80 domain containing 1 (CNPPD1), mRNA.	84					regulation of cyclin-dependent protein kinase activity	integral to membrane	protein kinase binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	12						CGGGACACATGAGCTACATAT	0.488000														75			65		0	0	0.000781405	0	0
COL1A1	1277	broad.mit.edu	37	17	48267365	48267365	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:48267365G>A	uc002iqm.3	-	35	2682	c.2556C>T	c.(2554-2556)ccC>ccT	p.P852P		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	852	Triple-helical region.				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)	CACTCACAATGGGGCCAGGGG	0.647000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							40			9		0	0	0.000978159	0	0
UBR4	23352	broad.mit.edu	37	1	19471391	19471391	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:19471391A>T	uc001bbi.3	-	53	7960	c.7956T>A	c.(7954-7956)caT>caA	p.H2652Q	UBR4_uc001bbk.1_Missense_Mutation_p.H334Q	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	2652					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)		TAGCTTCAATATGAGTTAGTC	0.398000														45			8		0	0	0.000157383	0	0
RASGRF1	5923	broad.mit.edu	37	15	79339138	79339138	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:79339138G>A	uc002beq.3	-	4	1203	c.828C>T	c.(826-828)tcC>tcT	p.S276S	RASGRF1_uc002bep.3_Silent_p.S276S|RASGRF1_uc010blm.1_Silent_p.S198S|RASGRF1_uc002ber.4_Silent_p.S276S	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	276	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAGGCTTCTTGGAGCTGGCGG	0.577000														55			30		0	0	0.00283554	0	0
RNF121	55298	broad.mit.edu	37	11	71693837	71693837	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:71693837C>T	uc001ora.3	+	3	614	c.274C>T	c.(274-276)Ccc>Tcc	p.P92S	RNF121_uc001ord.3_Missense_Mutation_p.P11S|RNF121_uc001orb.3_Missense_Mutation_p.P60S|RNF121_uc009yst.3_Missense_Mutation_p.P60S	NM_018320	NP_060790	Q9H920	RN121_HUMAN	Homo sapiens ring finger protein 121 (RNF121), transcript variant 1, mRNA.	92						integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						GTGGGTTGTTCCCCTCTATTT	0.517000														71			17		0	0	0.00121646	0	0
LRRC30	339291	broad.mit.edu	37	18	7231170	7231170	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:7231170G>C	uc010wzk.2	+	0	34	c.34G>C	c.(34-36)Gat>Cat	p.D12H		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	12										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CAGCTCCAAGGATAAGGGCCC	0.617000														39			7		0	0	0.000442599	0	0
HIBCH	26275	broad.mit.edu	37	2	191069876	191069876	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:191069876A>C	uc002uru.3	-	13	1423	c.1128T>G	c.(1126-1128)ttT>ttG	p.F376L	HIBCH_uc002urv.3_3'UTR	NM_014362	NP_055177	Q6NVY1	HIBCH_HUMAN	Homo sapiens 3-hydroxyisobutyryl-CoA hydrolase (HIBCH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	376					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			CCAAAGACTTAAAGTGATTAT	0.368000														26			17		0	0	0.00074312	0	0
PIGK	10026	broad.mit.edu	37	1	77620211	77620211	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:77620211G>A	uc001dhk.3	-	8	954	c.909C>T	c.(907-909)ttC>ttT	p.F303F	PIGK_uc010orj.2_Silent_p.F227F|PIGK_uc009wbx.3_Silent_p.F209F|PIGK_uc001dhl.1_Silent_p.F303F	NM_005482	NP_005473	Q92643	GPI8_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class K (PIGK), mRNA.	303					C-terminal protein lipidation|attachment of GPI anchor to protein|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	GPI-anchor transamidase activity|cysteine-type endopeptidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						CACTTCCAAAGAAATCAGTTA	0.368000														31			11		0	0	0.000978159	0	0
OR1J2	26740	broad.mit.edu	37	9	125273295	125273295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:125273295C>T	uc011lyv.2	+	0	215	c.215C>T	c.(214-216)tCc>tTc	p.S72F	OR1J2_uc004bmj.2_Missense_Mutation_p.S72F	NM_054107	NP_473448	Q8NGS2	OR1J2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 2 (OR1J2), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						ACTGACATCTCCTTTTCATCT	0.468000														49			11		0	0	0.000978159	0	0
TLR8	51311	broad.mit.edu	37	X	12937473	12937473	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:12937473G>A	uc004cvd.3	+	2	538	c.368G>A	c.(367-369)gGa>gAa	p.G123E	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.G105E	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	105					I-kappaB kinase/NF-kappaB cascade|cellular response to mechanical stimulus|defense response to virus|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	p.G123*(2)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CACCAGAACGGAAATCCCGGT	0.403000														44			21		0	0	0.000720815	0	0
GJC1	10052	broad.mit.edu	37	17	42883130	42883130	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:42883130A>G	uc002ihj.3	-	1	567	c.56T>C	c.(55-57)tTt>tCt	p.F19S	GJC1_uc002ihk.3_Missense_Mutation_p.F19S|GJC1_uc002ihl.3_Missense_Mutation_p.F19S|GJC1_uc021tyf.1_Missense_Mutation_p.F19S	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	19					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CTTCCCCACAAATGTGGAATG	0.443000														17			19		0	0	0.00188189	0	0
ADCY8	114	broad.mit.edu	37	8	131826339	131826339	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:131826339G>A	uc003ytd.4	-	13	3145	c.2889C>T	c.(2887-2889)ttC>ttT	p.F963F	ADCY8_uc010mds.3_Silent_p.F832F	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	963					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCTTCTCTAGGAAATGGCGGG	0.522000										HNSCC(32;0.087)				51			17		0	0	0.000958276	0	0
ZNF572	137209	broad.mit.edu	37	8	125989788	125989788	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:125989788C>T	uc003yrr.3	+	2	1433	c.1278C>T	c.(1276-1278)acC>acT	p.T426T		NM_152412	NP_689625	Q7Z3I7	ZN572_HUMAN	Homo sapiens zinc finger protein 572 (ZNF572), mRNA.	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S425F(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AGAGTTCCACCCTGGTGATTC	0.438000										HNSCC(60;0.17)				56			18		0	0	0.00074312	0	0
STAB2	55576	broad.mit.edu	37	12	104100610	104100610	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:104100610A>C	uc001tjw.3	+	37	4223	c.4037A>C	c.(4036-4038)cAg>cCg	p.Q1346P		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1346	Laminin EGF-like 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.Q1346K(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCCCAATGCCAGCCCTGCCCA	0.547000														31			9		0	0	0.00185496	0	0
TM9SF4	9777	broad.mit.edu	37	20	30745606	30745606	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:30745606C>T	uc002wxj.2	+	13	1574	c.1339C>T	c.(1339-1341)Ccc>Tcc	p.P447S	TM9SF4_uc010zts.1_Missense_Mutation_p.P354S|TM9SF4_uc002wxk.2_Missense_Mutation_p.P430S	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	447						integral to membrane		p.L446L(1)		central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGTGCCCTTTCCCACCATGGT	0.627000														54			29		0	0	0.000814825	0	0
GRM3	2913	broad.mit.edu	37	7	86468214	86468214	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:86468214G>A	uc003uid.3	+	3	2483	c.1384G>A	c.(1384-1386)Gga>Aga	p.G462R	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.G334R|GRM3_uc010leh.3_Missense_Mutation_p.G54R	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	462					synaptic transmission	integral to plasma membrane		p.D461H(1)|p.G462V(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TTTTGGAGATGGAATGGGGCG	0.378000														11			14		0	0	0.000566183	0	0
CCDC88B	283234	broad.mit.edu	37	11	64109113	64109113	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:64109113C>T	uc001nzy.3	+	6	623	c.574C>T	c.(574-576)Cca>Tca	p.P192S	CCDC88B_uc009ypo.2_Missense_Mutation_p.P189S|CCDC88B_uc001nzz.1_5'Flank	NM_032251	NP_115627	A6NC98	CC88B_HUMAN	Homo sapiens coiled-coil domain containing 88B (CCDC88B), mRNA.	192					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACTGTCTGGGCCAGATCCTGG	0.697000														22			5		0	0	0.00116845	0	0
APOBEC3D	140564	broad.mit.edu	37	22	39427710	39427710	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:39427710G>A	uc003awt.4	+	5	1181	c.774G>A	c.(772-774)gaG>gaA	p.E258E	APOBEC3D_uc010gxu.3_Silent_p.E54E|APOBEC3D_uc003awu.4_Silent_p.E74E	NM_152426	NP_689639	Q96AK3	ABC3D_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (APOBEC3D), mRNA.	258					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TGGATCCTGAGACCCATTGTC	0.582000														77			23		0	0	0.00148497	0	0
MYBPC1	4604	broad.mit.edu	37	12	102056135	102056135	+	Splice_Site	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:102056135G>A	uc001tii.3	+	19	2098	c.1958_splice	c.e19-1	p.G653_splice	MYBPC1_uc001tig.3_Splice_Site_p.G678_splice|MYBPC1_uc010svr.2_Splice_Site_p.G653_splice|MYBPC1_uc010svs.2_Splice_Site_p.G653_splice|MYBPC1_uc001tij.3_Splice_Site_p.G653_splice|MYBPC1_uc010svt.2_Splice_Site_p.G641_splice|MYBPC1_uc010svu.2_Splice_Site_p.G634_splice|MYBPC1_uc001tik.3_Splice_Site_p.G627_splice|MYBPC1_uc001tih.3_Splice_Site_p.G678_splice|MYBPC1_uc010svq.2_Splice_Site_p.G640_splice	NM_206820	NP_996556	Q00872	MYPC1_HUMAN	Homo sapiens myosin binding protein C, slow type (MYBPC1), transcript variant 3, mRNA.	653	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CATACCTGCAGGATATTTTAT	0.343000														24			9		0	0	0.000442599	0	0
ATP2B4	493	broad.mit.edu	37	1	203682354	203682354	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:203682354C>T	uc001gzw.3	+	13	3170	c.2273C>T	c.(2272-2274)cCc>cTc	p.P758L	ATP2B4_uc001gzv.3_Missense_Mutation_p.P758L|ATP2B4_uc009xaq.3_Missense_Mutation_p.P758L	NM_001684	NP_001675	P23634	AT2B4_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 4 (ATP2B4), transcript variant 2, mRNA.	758					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CGATCTTCTCCCACTGACAAG	0.552000														70			8		0	0	0.000274275	0	0
SYT1	6857	broad.mit.edu	37	12	79679637	79679637	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:79679637C>T	uc001sys.3	+	5	908	c.237C>T	c.(235-237)atC>atT	p.I79I	SYT1_uc001syt.3_Silent_p.I79I|SYT1_uc001syu.3_Silent_p.I79I|SYT1_uc001syv.3_Silent_p.I79I	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	79					detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GCTTTTGTATCTGTAAGAAAT	0.403000														35			10		0	0	0.000673444	0	0
SLC10A5	347051	broad.mit.edu	37	8	82606756	82606756	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:82606756A>G	uc011lfs.2	-	0	452	c.452T>C	c.(451-453)aTa>aCa	p.I151T		NM_001010893	NP_001010893	Q5PT55	NTCP5_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 5 (SLC10A5), mRNA.	151						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						ATTCAATAGTATTAGTGGTAA	0.358000														82			29		0	0	0.00127121	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128851345	128851345	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:128851345G>A	uc009zcp.3	-	15	1704	c.1704C>T	c.(1702-1704)agC>agT	p.S568S	ARHGAP32_uc009zcq.2_Silent_p.S528S|ARHGAP32_uc009zco.3_5'UTR|ARHGAP32_uc001qez.3_Silent_p.S219S	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	568					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TGATTCTGCCGCTGAACAGCA	0.527000														43			13		0	0	0.00136819	0	0
GRIN3A	116443	broad.mit.edu	37	9	104499744	104499744	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:104499744C>T	uc004bbp.2	-	0	1119	c.518G>A	c.(517-519)tGg>tAg	p.W173*	GRIN3A_uc004bbq.1_Nonsense_Mutation_p.W173*	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	173					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)	GTCACTGCTCCATGGCGAACT	0.602000														17			6		0	0	0.00198382	0	0
CRAT	1384	broad.mit.edu	37	9	131860836	131860836	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:131860836G>A	uc004bxh.3	-	8	1461	c.1179C>T	c.(1177-1179)atC>atT	p.I393I	CRAT_uc004bxk.4_Silent_p.I372I	NM_000755	NP_000746	P43155	CACP_HUMAN	Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	393					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TGGCCTTCTCGATGTCGCTCT	0.617000														52			23		0	0	0.000878237	0	0
CYP2C19	1557	broad.mit.edu	37	10	96534882	96534882	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:96534882G>A	uc010qnz.2	+	1	236	c.236G>A	c.(235-237)gGa>gAa	p.G79E	CYP2C19_uc009xus.1_Intron|CYP2C19_uc010qny.2_Missense_Mutation_p.G57E	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	79					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.G79E(2)|p.G79*(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GTGCTGCATGGATATGAAGTG	0.458000														35			16		0	0	0.000422831	0	0
SART1	9092	broad.mit.edu	37	11	65732612	65732612	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:65732612G>A	uc001ogl.3	+	3	569	c.477G>A	c.(475-477)atG>atA	p.M159I	SART1_uc010rot.1_Missense_Mutation_p.M1I	NM_005146	NP_005137	O43290	SNUT1_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells (SART1), mRNA.	159					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TCAACCCTATGGCCTTGCGAC	0.662000														33			4		0	0	0.00024832	0	0
LMX1B	4010	broad.mit.edu	37	9	129453266	129453266	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:129453266G>A	uc011maa.2	+	2	485	c.478G>A	c.(478-480)Gag>Aag	p.E160K	LMX1B_uc004bqi.3_Missense_Mutation_p.E160K|LMX1B_uc004bqj.3_Missense_Mutation_p.E160K	NM_001174146	NP_001167617	O60663	LMX1B_HUMAN	Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA.	137					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						CGTGCTCAAGGAGGGCCAGCT	0.637000									Nail-Patella Syndrome					6			4		0	0	0.000602214	0	0
SLC1A7	6512	broad.mit.edu	37	1	53554641	53554641	+	Missense_Mutation	SNP	G	A	A	rs138141030	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:53554641G>A	uc021onn.1	-	9	1717	c.1549C>T	c.(1549-1551)Cgc>Tgc	p.R517C	SLC1A7_uc021onm.1_Missense_Mutation_p.R386C|SLC1A7_uc001cux.3_Missense_Mutation_p.R111C|SLC1A7_uc001cuy.3_Missense_Mutation_p.R458C|SLC1A7_uc021ono.1_Intron	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	458						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	ATCATGGTGCGGAAACGGTCC	0.612000														13			7		0	0	0.000157383	0	0
WIBG	84305	broad.mit.edu	37	12	56297237	56297237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:56297237G>A	uc001sif.1	-	1	217	c.65C>T	c.(64-66)cCt>cTt	p.P22L	WIBG_uc001sie.1_Missense_Mutation_p.P21L	NM_032345	NP_115721	Q9BRP8	WIBG_HUMAN	Homo sapiens within bgcn homolog (Drosophila) (WIBG), transcript variant 1, mRNA.	22	Required for interaction with MAGOH and RBM8A.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	RNA binding|protein binding|ribosome binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGTCCCGTCAGGTCGCTGTGT	0.443000														70			20		0	0	0.000586117	0	0
CEP55	55165	broad.mit.edu	37	10	95276986	95276986	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:95276986C>T	uc001kiq.4	+	5	1278	c.974C>T	c.(973-975)tCc>tTc	p.S325F	CEP55_uc009xug.3_Missense_Mutation_p.S325F	NM_018131	NP_060601	Q53EZ4	CEP55_HUMAN	Homo sapiens centrosomal protein 55kDa (CEP55), transcript variant 1, mRNA.	325					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				AAGAAGAGATCCGAAGAGCTC	0.393000														61			5		0	0	0.00116845	0	0
ABCB1	5243	broad.mit.edu	37	7	87183229	87183229	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:87183229C>T	uc003uiz.2	-	9	1340	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K	ABCB1_uc011khc.2_Missense_Mutation_p.E219K	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	283	ABC transmembrane type-1 1.				G2/M transition of mitotic cell cycle|stem cell proliferation	Golgi membrane|apical plasma membrane|cell surface|integral to membrane|intercellular canaliculus|membrane fraction	ATP binding|protein binding|xenobiotic-transporting ATPase activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Adenosine triphosphate(DB00171)|Alfentanil(DB00802)|Arsenic trioxide(DB01169)|Atazanavir(DB01072)|Carvedilol(DB01136)|Colchicine(DB01394)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dipyridamole(DB00975)|Estramustine(DB01196)|Flupenthixol(DB00875)|Imatinib(DB00619)|Itraconazole(DB01167)|Nicardipine(DB00622)|Propafenone(DB01182)|Quinacrine(DB01103)|Quinidine(DB00908)|Ranolazine(DB00243)|Rifampin(DB01045)|Roxithromycin(DB00778)|Saquinavir(DB01232)|Tamoxifen(DB00675)|Vinblastine(DB00570)	CTTTTAGCTTCTTCTAAATTT	0.348000														95			18		0	0	0.000958276	0	0
SCN7A	6332	broad.mit.edu	37	2	167284437	167284437	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:167284437G>A	uc002udu.2	-	16	2844	c.2714C>T	c.(2713-2715)tCt>tTt	p.S905F	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.	905					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						ACCAAGTGAAGATCCGCGTCT	0.393000														21			6		0	0	0.000157383	0	0
DSP	1832	broad.mit.edu	37	6	7572181	7572181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:7572181G>A	uc003mxp.1	+	14	2289	c.2010G>A	c.(2008-2010)atG>atA	p.M670I	DSP_uc003mxq.1_Missense_Mutation_p.M670I|DSP_uc021yle.1_Missense_Mutation_p.M670I	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	670	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGATGCTGATGGAGCTGCAGA	0.458000														82			14		0	0	0.00185496	0	0
CCDC113	29070	broad.mit.edu	37	16	58292312	58292312	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:58292312C>T	uc002ene.3	+	3	510	c.431C>T	c.(430-432)tCg>tTg	p.S144L	CCDC113_uc010vid.2_Missense_Mutation_p.S90L	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	Homo sapiens coiled-coil domain containing 113 (CCDC113), transcript variant 1, mRNA.	144						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						AGTGAAGTTTCGAGAGAAGTG	0.423000														46			29		0	0	0.00283554	0	0
PLXNA4	91584	broad.mit.edu	37	7	131859575	131859576	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:131859575_131859576GG>TA	uc003vra.4	-	20	4207_4208	c.3978_3979CC>TA	c.(3976-3981)ttccca>ttTAca	p.P1327T		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1327						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TCAATTCCTGGGAACAGCACCC	0.564000														93			17		0	0	6.4e-05	0	0
MUC4	4585	broad.mit.edu	37	3	195479950	195479950	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:195479950C>T	uc021xjp.1	-	19	15636	c.15480G>A	c.(15478-15480)ggG>ggA	p.G5160G	MUC4_uc010hzq.3_Silent_p.G17G|MUC4_uc003fuz.3_Silent_p.G758G|MUC4_uc003fva.3_Silent_p.G640G|MUC4_uc003fvb.3_Silent_p.G676G|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Silent_p.G676G|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Silent_p.G669G|MUC4_uc021xjn.1_Silent_p.G849G|MUC4_uc021xjo.1_Silent_p.G640G|MUC4_uc021xjg.1_Silent_p.G640G|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Silent_p.G724G|MUC4_uc021xjj.1_Silent_p.G724G|MUC4_uc021xjk.1_Silent_p.G901G|MUC4_uc021xjl.1_Silent_p.G640G|MUC4_uc003fvo.3_Silent_p.G924G|MUC4_uc003fvp.3_Silent_p.G873G	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1917					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAAGTTGTTCCCAGCCAGGA	0.637000														32			12		0	0	0.00185496	0	0
CYLC1	1538	broad.mit.edu	37	X	83128355	83128355	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:83128355C>T	uc004eei.1	+	3	660	c.639C>T	c.(637-639)ttC>ttT	p.F213F	CYLC1_uc004eeh.1_Silent_p.F212F	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	213					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ACACTGAATTCCTACATACAA	0.303000														6			11		0	0	0.00136819	0	0
ASPM	259266	broad.mit.edu	37	1	197097732	197097732	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:197097732G>A	uc001gtu.3	-	9	3081	c.2824C>T	c.(2824-2826)Cgt>Tgt	p.R942C	ASPM_uc001gtv.3_Missense_Mutation_p.R942C|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.	942	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding	p.R942C(2)		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						CCAAGGTGACGGGAAAGGTCA	0.378000														34			8		0	0	0.000274275	0	0
GPR111	222611	broad.mit.edu	37	6	47650089	47650089	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:47650089G>A	uc010jzj.1	+	5	1795	c.1794G>A	c.(1792-1794)tgG>tgA	p.W598*	GPR111_uc003oyy.3_Nonsense_Mutation_p.W530*	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	598					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GGCTCAACTGGGACATGACCA	0.547000														19			16		0	0	0.000566183	0	0
LMTK2	22853	broad.mit.edu	37	7	97821025	97821025	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:97821025G>A	uc003upd.2	+	10	1541	c.1248G>A	c.(1246-1248)cgG>cgA	p.R416R		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	416					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGAGCCAGCGGGACTCAGAGG	0.537000														41			7		0	0	0.000157383	0	0
TMEM229B	161145	broad.mit.edu	37	14	67940539	67940539	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:67940539C>T	uc001xjk.3	-	2	512	c.102G>A	c.(100-102)gtG>gtA	p.V34V	TMEM229B_uc001xjj.1_Non-coding_Transcript|TMEM229B_uc021rvb.1_Silent_p.V34V	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	Homo sapiens transmembrane protein 229B (TMEM229B), mRNA.	34						integral to membrane		p.F33F(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TCAAGTTCACCACGAACTCCC	0.622000														11			6		0	0	0.000274275	0	0
SLC25A24	29957	broad.mit.edu	37	1	108703825	108703825	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:108703825G>A	uc001dvn.4	-	3	703	c.489C>T	c.(487-489)atC>atT	p.I163I	SLC25A24_uc001dvm.3_Silent_p.I144I	NM_013386	NP_037518	Q6NUK1	SCMC1_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24 (SLC25A24), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	163					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		TCCAGAAACGGATAATTTCCT	0.348000														75			10		0	0	0.000442599	0	0
FAM63A	55793	broad.mit.edu	37	1	150971860	150971860	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:150971860G>A	uc010pcn.2	-	7	1333	c.1110C>T	c.(1108-1110)acC>acT	p.T370T	FAM63A_uc001ewc.3_Silent_p.T180T|FAM63A_uc010pcm.2_Silent_p.T227T|FAM63A_uc001ewd.3_Silent_p.T180T|FAM63A_uc001ewf.3_Silent_p.T322T|FAM63A_uc001ewg.3_Silent_p.T322T	NM_001163258	NP_001156730	Q8N5J2	FA63A_HUMAN	Homo sapiens family with sequence similarity 63, member A (FAM63A), transcript variant 3, mRNA.	322							protein binding	p.S369S(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCTTAGTCATGGTGCTAAAGT	0.547000														157			29		0	0	0.000692331	0	0
CEACAM19	56971	broad.mit.edu	37	19	45186758	45186758	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:45186758C>T	uc002ozo.4	+	7	1379	c.899C>T	c.(898-900)tCc>tTc	p.S300F	CEACAM19_uc002ozp.4_Missense_Mutation_p.S299F	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 19 (CEACAM19), transcript variant 2, mRNA.	300						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				GTGCCAACTTCCTGATGGGTC	0.632000														35			11		0	0	0.00185496	0	0
SCUBE2	57758	broad.mit.edu	37	11	9080872	9080872	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:9080872T>G	uc001mhi.2	-	8	1143	c.1068A>C	c.(1066-1068)ttA>ttC	p.L356F	SCUBE2_uc001mhj.2_Missense_Mutation_p.L356F	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	356	EGF-like 7; calcium-binding (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TCTCATCTGTTAATAATTTAA	0.473000														39			10		0	0	0.00185496	0	0
IL1B	3553	broad.mit.edu	37	2	113588049	113588049	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:113588049G>A	uc002tii.1	-	6	786	c.699C>T	c.(697-699)ttC>ttT	p.F233F	IL1B_uc002tih.1_Silent_p.F202F	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	233					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of MAP kinase activity|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell proliferation|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	ACCAGTTGGGGAACTGGGCAG	0.448000														43			25		0	0	0.000586117	0	0
PITPNM1	9600	broad.mit.edu	37	11	67270061	67270061	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:67270061G>A	uc001olx.3	-	1	396	c.207C>T	c.(205-207)atC>atT	p.I69I	PITPNM1_uc001oly.3_Silent_p.I69I|PITPNM1_uc001olz.3_Silent_p.I69I	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	69					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						ACCAGCCTGGGATGTGGGAGC	0.657000														31			6		0	0	0.00116845	0	0
TACC1	6867	broad.mit.edu	37	8	38677384	38677384	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:38677384T>C	uc010lwp.3	+	2	1001	c.622T>C	c.(622-624)Tcc>Ccc	p.S208P	TACC1_uc011lby.1_Missense_Mutation_p.S13P|TACC1_uc003xma.3_Intron|TACC1_uc003xmb.4_Missense_Mutation_p.S163P|TACC1_uc003xlz.3_Missense_Mutation_p.S13P|TACC1_uc003xmc.4_Missense_Mutation_p.S13P|TACC1_uc011lbz.2_Missense_Mutation_p.S224P|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.4_Intron|TACC1_uc011lca.2_Missense_Mutation_p.S208P|TACC1_uc011lcb.2_Missense_Mutation_p.S13P|TACC1_uc011lcc.2_Missense_Mutation_p.S13P|TACC1_uc011lcd.2_Non-coding_Transcript|TACC1_uc003xmh.4_Missense_Mutation_p.S13P|TACC1_uc010lwq.3_Missense_Mutation_p.S13P	NM_006283	NP_001139688	O75410	TACC1_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 1 (TACC1), transcript variant 1, mRNA.	208	Interaction with TDRD7.|Interaction with YEATS4.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CCTCGAGGCCTCCGCAGAAGC	0.597000														32			7		0	0	0.00198382	0	0
CLDN2	9075	broad.mit.edu	37	X	106171926	106171926	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:106171926G>T	uc022ccd.1	+	0	468	c.468G>T	c.(466-468)atG>atT	p.M156I	MORC4_uc004emp.4_Intron|CLDN2_uc004emq.1_Missense_Mutation_p.M156I|CLDN2_uc022ccc.1_Missense_Mutation_p.M156I|CLDN2_uc004emt.2_Missense_Mutation_p.M156I	NM_020384	NP_065117	P57739	CLD2_HUMAN	Homo sapiens claudin 2 (CLDN2), transcript variant 1, mRNA.	156					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.M156I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CTGACAGCATGAAATTTGAGA	0.478000														56			15		0.000422831	0.00141742	0.000422831	1	0
NAALADL2	254827	broad.mit.edu	37	3	175293879	175293879	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:175293879C>T	uc003fit.3	+	9	1791	c.1704C>T	c.(1702-1704)atC>atT	p.I568I	NAALADL2_uc003fiu.1_Silent_p.I561I|NAALADL2_uc010hwy.1_Silent_p.I342I	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	568					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AAACCAATATCAGTTCTATAC	0.373000														75			15		0	0	0.000308642	0	0
LYZ	4069	broad.mit.edu	37	12	69743908	69743908	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:69743908G>A	uc001suw.2	+	1	212	c.157G>A	c.(157-159)Gag>Aag	p.E53K		NM_000239	NP_000230	P61626	LYSC_HUMAN	Homo sapiens lysozyme (LYZ), mRNA.	53					cell wall macromolecule catabolic process|cytolysis|defense response to bacterium|inflammatory response	extracellular space	lysozyme activity|protein binding			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)	4	all_epithelial(5;2.98e-35)|Lung NSC(4;9.93e-33)|all_lung(4;5.66e-31)|Breast(13;2.56e-06)|Esophageal squamous(21;0.187)		Epithelial(6;8.26e-19)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;9.68e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00503)|OV - Ovarian serous cystadenocarcinoma(12;0.00691)|LUSC - Lung squamous cell carcinoma(43;0.24)|Kidney(9;0.241)			GGCCAAATGGGAGAGTGGTTA	0.383000														51			13		0	0	0.000308642	0	0
C12orf63	374467	broad.mit.edu	37	12	97078949	97078949	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:97078949G>A	uc021rcc.1	+	8	1300	c.1222G>A	c.(1222-1224)Gag>Aag	p.E408K				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	408										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						CTACAGTGAGGAGTTTCTGTC	0.493000														23			8		0	0	0.000274275	0	0
BRD7	29117	broad.mit.edu	37	16	50354206	50354206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:50354206G>A	uc021thx.1	-	14	1869	c.1709C>T	c.(1708-1710)cCg>cTg	p.P570L	BRD7_uc002ege.2_Missense_Mutation_p.P571L	NM_013263	NP_037395	Q9NPI1	BRD7_HUMAN	Homo sapiens bromodomain containing 7 (BRD7), transcript variant 2, mRNA.	570					Wnt receptor signaling pathway|cell cycle|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of histone acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	histone acetyl-lysine binding|p53 binding|transcription coactivator activity|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(2)	22		all_cancers(37;0.0127)				GATCATGTTCGGAGGGGGTCT	0.468000														12			8		0	0	0.000442599	0	0
CASR	846	broad.mit.edu	37	3	122003307	122003307	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:122003307G>A	uc003eew.4	+	6	2974	c.2536G>A	c.(2536-2538)Gta>Ata	p.V846I	CASR_uc003eev.4_Missense_Mutation_p.V836I	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	836					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TGTCTCTGCCGTAGAGGTGAT	0.498000														66			15		0	0	0.000308642	0	0
KALRN	8997	broad.mit.edu	37	3	123987809	123987809	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:123987809C>T	uc003ehg.3	+	4	797	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W	KALRN_uc010hrv.1_Missense_Mutation_p.R224W|KALRN_uc003ehf.1_Missense_Mutation_p.R224W|KALRN_uc011bjy.1_Missense_Mutation_p.R224W	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	224					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGGGCTCTCGGCGGCTCAT	0.627000														14			5		0	0	0.00116845	0	0
KIAA1377	57562	broad.mit.edu	37	11	101834449	101834449	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:101834449A>C	uc001pgm.3	+	5	2953	c.2683A>C	c.(2683-2685)Act>Cct	p.T895P	KIAA1377_uc001pgn.3_Missense_Mutation_p.T851P|KIAA1377_uc010run.2_Missense_Mutation_p.T696P|KIAA1377_uc009yxa.1_Missense_Mutation_p.T696P	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	895							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TTCAAATGGCACTCAAGCAGT	0.418000														54			16		0	0	0.000308642	0	0
MXRA5	25878	broad.mit.edu	37	X	3240459	3240459	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:3240459C>T	uc004crg.4	-	4	3424	c.3267G>A	c.(3265-3267)gaG>gaA	p.E1089E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1089						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGGATTTGCTCTCTTGGCCCT	0.478000														29			7		0	0	0.000673444	0	0
IL7R	3575	broad.mit.edu	37	5	35876369	35876369	+	Silent	SNP	C	T	T	rs139678300		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:35876369C>T	uc003jjs.3	+	7	1250	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	387					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CTTCCAGGTCCCTAGACTGCA	0.537000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							18			4		0	0	0.00024832	0	0
LGALS12	85329	broad.mit.edu	37	11	63277347	63277347	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:63277347C>T	uc001nxc.2	+	3	880	c.539C>T	c.(538-540)gCt>gTt	p.A180V	LGALS12_uc001nxa.2_Missense_Mutation_p.A179V|LGALS12_uc001nxb.2_Missense_Mutation_p.A179V|LGALS12_uc001nxd.2_Missense_Mutation_p.A118V|LGALS12_uc001nxe.2_Missense_Mutation_p.A118V|LGALS12_uc009yot.2_Missense_Mutation_p.A139V	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.	179	Galectin 1.				apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding	p.V180A(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						CTGGTAGAGGCTGTTGGATTC	0.552000														42			7		0	0	0.000157383	0	0
CCDC60	160777	broad.mit.edu	37	12	119968742	119968742	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:119968742C>T	uc001txe.3	+	12	1890	c.1425C>T	c.(1423-1425)atC>atT	p.I475I	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	475										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCAAAAAGATCCTGGTGAAAC	0.488000														42			17		0	0	0.000958276	0	0
FAM5B	57795	broad.mit.edu	37	1	177250484	177250484	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:177250484G>A	uc001glf.3	+	7	2484	c.2172G>A	c.(2170-2172)agG>agA	p.R724R	FAM5B_uc001glg.3_Silent_p.R619R	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	724						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TTGAGCTCAGGGACCGGGTGA	0.537000														64			14		0	0	0.000308642	0	0
CLCN3	1182	broad.mit.edu	37	4	170618774	170618774	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:170618774C>T	uc003ish.3	+	8	2011	c.1452C>T	c.(1450-1452)gtC>gtT	p.V484V	CLCN3_uc003isi.3_Silent_p.V484V|CLCN3_uc011cka.2_Silent_p.V457V|CLCN3_uc011cjz.2_Silent_p.V467V|CLCN3_uc003isj.2_Silent_p.V457V	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	484					endosomal lumen acidification	Golgi membrane|cell surface|early endosome membrane|integral to membrane|late endosome membrane|transport vesicle membrane	ATP binding|PDZ domain binding|antiporter activity|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GTAAAATTGTCGATGACATTC	0.403000														59			17		0	0	0.000958276	0	0
MUC4	4585	broad.mit.edu	37	3	195475828	195475828	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:195475828C>T	uc021xjp.1	-	23	16135	c.15979G>A	c.(15979-15981)Ggc>Agc	p.G5327S	MUC4_uc010hzq.3_Missense_Mutation_p.G184S|MUC4_uc003fuz.3_Missense_Mutation_p.G925S|MUC4_uc003fva.3_Missense_Mutation_p.G807S|MUC4_uc003fvb.3_Missense_Mutation_p.G843S|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Missense_Mutation_p.G843S|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Missense_Mutation_p.G836S|MUC4_uc021xjn.1_Missense_Mutation_p.G1016S|MUC4_uc021xjo.1_Missense_Mutation_p.G807S|MUC4_uc021xjg.1_Missense_Mutation_p.G807S|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.G891S|MUC4_uc021xjj.1_Missense_Mutation_p.G891S|MUC4_uc021xjk.1_Missense_Mutation_p.G1068S|MUC4_uc021xjl.1_Missense_Mutation_p.G807S|MUC4_uc003fvo.3_Missense_Mutation_p.G1091S|MUC4_uc003fvp.3_Missense_Mutation_p.G1040S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	2084					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCACAGTAGCCCCTACTGCAC	0.642000														30			5		0	0	0.000602214	0	0
MYLK	4638	broad.mit.edu	37	3	123452731	123452731	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:123452731C>T	uc003ego.3	-	9	1394	c.1112G>A	c.(1111-1113)aGg>aAg	p.R371K	MYLK_uc011bjw.2_Missense_Mutation_p.R371K|MYLK_uc003egp.3_Missense_Mutation_p.R371K|MYLK_uc003egq.3_Missense_Mutation_p.R371K|MYLK_uc003egr.3_Missense_Mutation_p.R371K|MYLK_uc003egs.3_Missense_Mutation_p.R195K	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	371					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGGCCTCTTCCTCTCTTCTCC	0.612000														47			7		0	0	0.00198382	0	0
EPHB1	2047	broad.mit.edu	37	3	134670754	134670754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:134670754G>A	uc003eqt.3	+	2	1040	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_Intron	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	222	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.R222Q(3)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GTGATTGCTCGGGGCACATGC	0.532000														53			19		0	0	0.00229938	0	0
STAB2	55576	broad.mit.edu	37	12	104126805	104126805	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:104126805A>C	uc001tjw.3	+	50	5491	c.5305A>C	c.(5305-5307)Atc>Ctc	p.I1769L	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1769	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GCTGAGTGTCATCACCGATCC	0.562000														21			8		0	0	0.000274275	0	0
GIMAP6	474344	broad.mit.edu	37	7	150327167	150327167	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:150327167G>A	uc022apv.1	-	1	544	c.64C>T	c.(64-66)Cct>Tct	p.P22S	GIMAP6_uc003whn.3_Missense_Mutation_p.P22S|GIMAP6_uc003whm.3_Missense_Mutation_p.P22S	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	22							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCAGCACAGGATCCTGGGAC	0.453000														169			29		0	0	0.000692331	0	0
COL6A6	131873	broad.mit.edu	37	3	130287196	130287196	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:130287196G>A	uc010htl.3	+	4	2180	c.2149G>A	c.(2149-2151)Ggc>Agc	p.G717S		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	717	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CCCCACCAAGGGCGCCCGGCC	0.507000														33			29		0	0	0.0024448	0	0
DMBT1	1755	broad.mit.edu	37	10	124399741	124399741	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:124399741A>G	uc001lgk.1	+	51	6847	c.6741A>G	c.(6739-6741)gaA>gaG	p.E2247E	DMBT1_uc001lgl.1_Silent_p.E2237E|DMBT1_uc001lgm.1_Silent_p.E1619E|DMBT1_uc021qaf.1_Silent_p.E2247E|DMBT1_uc021qag.1_Silent_p.E2237E|DMBT1_uc021qah.1_Silent_p.E1619E|DMBT1_uc009xzz.1_Silent_p.E2246E|DMBT1_uc010qtx.1_Silent_p.E967E|DMBT1_uc009yab.1_Silent_p.E950E|DMBT1_uc009yac.1_Silent_p.E541E	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2247	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AGGTCGAGGAAGTCCAGTATG	0.473000														91			5		0	0	0.000602214	0	0
KCTD20	222658	broad.mit.edu	37	6	36449483	36449483	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:36449483C>T	uc003ome.3	+	5	1194	c.803C>T	c.(802-804)tCt>tTt	p.S268F	KCTD20_uc011dtn.2_Missense_Mutation_p.S22F|KCTD20_uc010jwk.3_Missense_Mutation_p.S102F|KCTD20_uc011dto.2_Missense_Mutation_p.S22F|KCTD20_uc011dtm.2_Missense_Mutation_p.S123F	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 20 (KCTD20), mRNA.	268						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						GATGAGGATTCTGTGGACTGG	0.502000														56			10		0	0	0.00185496	0	0
DUSP14	11072	broad.mit.edu	37	17	35872649	35872649	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:35872649C>T	uc002hnx.2	+	2	569	c.275C>T	c.(274-276)aCc>aTc	p.T92I	DUSP14_uc002hnz.2_Missense_Mutation_p.T79I|DUSP14_uc021tvt.1_Missense_Mutation_p.T92I	NM_007026	NP_008957	O95147	DUS14_HUMAN	Homo sapiens dual specificity phosphatase 14 (DUSP14), mRNA.	92	Tyrosine-protein phosphatase.						MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.T92T(2)		endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				TACTTTGACACCGTGGCTGAC	0.557000														59			15		0	0	0.000422831	0	0
C2orf15	150590	broad.mit.edu	37	2	99767217	99767217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:99767217G>A	uc002szk.3	+	3	697	c.298G>A	c.(298-300)Gga>Aga	p.G100R	TSGA10_uc002szi.4_Intron|MRPL30_uc002szl.1_Intron	NM_144706	NP_653307	Q8WU43	CB015_HUMAN	Homo sapiens chromosome 2 open reading frame 15 (C2orf15), mRNA.	100										autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(1)	6						GACTGGCACAGGATCTCTTTC	0.393000														48			26		0	0	0.001512	0	0
IPO13	9670	broad.mit.edu	37	1	44423730	44423730	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:44423730C>T	uc001ckx.3	+	7	2417	c.1622C>T	c.(1621-1623)cCt>cTt	p.P541L		NM_014652	NP_055467	O94829	IPO13_HUMAN	Homo sapiens importin 13 (IPO13), mRNA.	541					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTAGGCAATCCTGAGCTGTCT	0.557000														52			33		0	0	0.000953801	0	0
SDF4	51150	broad.mit.edu	37	1	1164101	1164101	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:1164101G>A	uc001adh.4	-	1	402	c.73C>T	c.(73-75)Ctc>Ttc	p.L25F	SDF4_uc001adi.4_Missense_Mutation_p.L25F|SDF4_uc009vjw.3_Non-coding_Transcript	NM_016176	NP_057260	Q9BRK5	CAB45_HUMAN	Homo sapiens stromal cell derived factor 4 (SDF4), transcript variant 2, mRNA.	25					UV protection|cerebellum development|fat cell differentiation|response to ethanol|zymogen granule exocytosis	Golgi lumen|bleb|late endosome|soluble fraction	calcium ion binding|identical protein binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;7.85e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.42e-21)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;4.83e-05)|Kidney(185;0.00252)|BRCA - Breast invasive adenocarcinoma(365;0.00263)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0368)|Lung(427;0.204)		GCCCCCAGGAGCCAGAGGCAG	0.667000														8			5		0	0	0.000602214	0	0
SEMA3E	9723	broad.mit.edu	37	7	83029428	83029428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:83029428C>T	uc003uhy.2	-	10	1903	c.1282G>A	c.(1282-1284)Gat>Aat	p.D428N	SEMA3E_uc022agy.1_Missense_Mutation_p.D368N	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	428	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TATTTTCCATCTGTTTTTACC	0.403000														87			10		0	0	0.000978159	0	0
ATAD2	29028	broad.mit.edu	37	8	124384032	124384032	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:124384032G>A	uc003yqh.4	-	3	522	c.414C>T	c.(412-414)atC>atT	p.I138I	ATAD2_uc011lii.2_5'UTR|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Silent_p.I138I	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TACTTTGAACGATGTTTCTAG	0.343000														76			12		0	0	0.00185496	0	0
ODZ1	10178	broad.mit.edu	37	X	123637533	123637533	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:123637533C>T	uc010nqy.3	-	18	3386	c.3322G>A	c.(3322-3324)Gaa>Aaa	p.E1108K	ODZ1_uc011muj.2_Missense_Mutation_p.E1107K|ODZ1_uc004euj.3_Missense_Mutation_p.E1108K	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1108					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						GGGCACGTTTCATATTCATAT	0.373000														49			8		0	0	0.000274275	0	0
OR56B1	387748	broad.mit.edu	37	11	5758189	5758189	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5758189C>T	uc001mbt.2	+	0	512	c.443C>T	c.(442-444)tCc>tTc	p.S148F	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|OR56B1_uc001mbs.1_Missense_Mutation_p.S148F|OR56B1_uc009yev.1_Missense_Mutation_p.S148F	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GTCACCAGTTCCTTAATCTTA	0.443000														28			6		0	0	0.00198382	0	0
ITIH1	3697	broad.mit.edu	37	3	52825841	52825841	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:52825841G>A	uc003dfs.3	+	21	2680	c.2650G>A	c.(2650-2652)Gag>Aag	p.E884K	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Missense_Mutation_p.E742K|ITIH1_uc021wzg.1_Missense_Mutation_p.E596K|ITIH1_uc021wzh.1_Missense_Mutation_p.E596K|ITIH1_uc003dft.3_Missense_Mutation_p.R475Q|ITIH3_uc003dfv.2_5'Flank|ITIH3_uc011bek.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	884	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GCATGGGGCCGAGGTGTCCTG	0.577000														6			4		0	0	0.00024832	0	0
INSIG1	3638	broad.mit.edu	37	7	155094039	155094039	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:155094039C>T	uc003wly.3	+	3	827	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	INSIG1_uc003wlz.3_Intron|INSIG1_uc011kvu.2_Missense_Mutation_p.R54C	NM_005542	NP_005533	O15503	INSI1_HUMAN	Homo sapiens insulin induced gene 1 (INSIG1), transcript variant 1, mRNA.	206					ER-nuclear sterol response pathway|cell proliferation	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACATTTGATCGTTCCAGAAG	0.443000														115			15		0	0	0.000566183	0	0
TAF1L	138474	broad.mit.edu	37	9	32632772	32632772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:32632772C>T	uc003zrg.1	-	0	2896	c.2806G>A	c.(2806-2808)Gaa>Aaa	p.E936K	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	936					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|TBP-class protein binding|histone acetyltransferase activity|protein serine/threonine kinase activity			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGGAAATCTTCCTCATTTTCT	0.463000														45			15		0	0	0.00074312	0	0
MEOX2	4223	broad.mit.edu	37	7	15652188	15652188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:15652188C>T	uc003stc.3	-	2	1020	c.739G>A	c.(739-741)Ggt>Agt	p.G247S		NM_005924	NP_005915	P50222	MEOX2_HUMAN	Homo sapiens mesenchyme homeobox 2 (MEOX2), mRNA.	247					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		TGCTGTCCACCCTTTACCCTC	0.473000														76			11		0	0	0.00185496	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459924	107459924	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:107459924C>T	uc002tdq.3	-	1	629	c.510G>A	c.(508-510)agG>agA	p.R170R	ST6GAL2_uc002tdr.3_Silent_p.R170R|ST6GAL2_uc002tds.3_Silent_p.R170R	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	170					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			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						TCACCCGCCTCCTCTGGACCT	0.667000														51			6		0	0	0.00198382	0	0
CMYA5	202333	broad.mit.edu	37	5	79030768	79030768	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:79030768G>A	uc003kgc.3	+	1	6252	c.6180G>A	c.(6178-6180)gtG>gtA	p.V2060V		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	2060						perinuclear region of cytoplasm		p.V2060V(3)|p.Q2059K(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TGGAACAGGTGAAGTCAGAAA	0.463000														55			10		0	0	0.00136819	0	0
CPNE3	8895	broad.mit.edu	37	8	87557023	87557023	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:87557023A>G	uc003ydv.2	+	8	851	c.689A>G	c.(688-690)cAg>cGg	p.Q230R	CPNE3_uc003ydw.1_5'Flank	NM_003909	NP_003900	O75131	CPNE3_HUMAN	Homo sapiens copine III (CPNE3), mRNA.	230	C2 2.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						GGAACATTTCAGACCACCATG	0.308000														159			72		0	0	0.000781405	0	0
ADH6	130	broad.mit.edu	37	4	100131640	100131640	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:100131640G>A	uc003huo.2	-	3	376	c.282C>T	c.(280-282)ctC>ctT	p.L94L	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_5'UTR|ADH6_uc003hup.4_Silent_p.L94L|ADH6_uc010ile.3_Silent_p.L94L	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	94					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	GTGGCAGAAAGAGTGTGATAA	0.308000														78			7		0	0	0.00198382	0	0
ADCY10	55811	broad.mit.edu	37	1	167830154	167830154	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:167830154C>T	uc001ger.3	-	14	2062	c.1764G>A	c.(1762-1764)ttG>ttA	p.L588L	ADCY10_uc010plj.2_Silent_p.L435L|ADCY10_uc009wvk.3_Silent_p.L496L|ADCY10_uc009wvl.3_Silent_p.L587L	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	588					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACTTTTCATCCAACAGTGTCA	0.398000														77			28		0	0	0.000692331	0	0
NDST4	64579	broad.mit.edu	37	4	115858527	115858527	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:115858527G>A	uc003ibu.3	-	4	2033	c.1354C>T	c.(1354-1356)Cca>Tca	p.P452S	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	452	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TTCAGATGTGGATATTCTTCA	0.468000														36			16		0	0	0.00074312	0	0
TMC1	117531	broad.mit.edu	37	9	75357378	75357378	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:75357378C>T	uc004aiz.1	+	9	1012	c.472C>T	c.(472-474)Cgt>Tgt	p.R158C	TMC1_uc010moz.1_Missense_Mutation_p.R116C|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.R12C|TMC1_uc010mpa.1_Missense_Mutation_p.R12C	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	158	Arg/Asp/Glu/Lys-rich (highly charged).				sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						AAAATTCCTCCGTGATTTTGA	0.383000														30			9		0	0	0.00136819	0	0
ASTN1	460	broad.mit.edu	37	1	176863776	176863776	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:176863776G>A	uc001glc.3	-	16	3074	c.2862C>T	c.(2860-2862)acC>acT	p.T954T	ASTN1_uc001glb.1_Silent_p.T954T|ASTN1_uc001gld.1_Silent_p.T954T	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	962					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCTCAGCAGGGGTGTCAGGGC	0.612000														35			9		0	0	0.000673444	0	0
EMR2	30817	broad.mit.edu	37	19	14877890	14877890	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:14877890G>A	uc002mzp.1	-	5	843	c.387C>T	c.(385-387)ctC>ctT	p.L129L	EMR2_uc010dzs.1_5'Flank|EMR2_uc010xnw.1_Silent_p.L129L|EMR2_uc002mzo.1_Silent_p.L129L|EMR2_uc002mzq.1_Silent_p.L129L|EMR2_uc002mzr.1_Silent_p.L129L|EMR2_uc002mzs.1_Intron|EMR2_uc002mzt.1_Intron|EMR2_uc002mzu.1_Intron|EMR2_uc010xnx.1_Non-coding_Transcript|EMR2_uc010xny.1_Non-coding_Transcript	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	129	EGF-like 3; calcium-binding.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AGCTTTTACAGAGCCTTGGGT	0.587000														62			9		0	0	0.000442599	0	0
LPAR1	1902	broad.mit.edu	37	9	113704247	113704247	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:113704247G>A	uc011lwo.2	-	1	252	c.250C>T	c.(250-252)Cct>Tct	p.P84S	LPAR1_uc004bfa.3_Missense_Mutation_p.P83S|LPAR1_uc011lwm.2_Missense_Mutation_p.P84S|LPAR1_uc004bfc.3_Missense_Mutation_p.P83S|LPAR1_uc011lwn.2_Missense_Mutation_p.P65S|LPAR1_uc004bfb.3_Missense_Mutation_p.P83S|LPAR1_uc010mub.3_Missense_Mutation_p.P83S	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	83					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TAATAAATAGGAAAATGGAAG	0.458000														32			7		0	0	0.00198382	0	0
OR10R2	343406	broad.mit.edu	37	1	158450091	158450091	+	Missense_Mutation	SNP	C	T	T	rs138574952		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158450091C>T	uc010pik.2	+	0	424	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R142C(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					GGGTTATGATCGCTATGCTGC	0.498000														88			17		0	0	0.00121646	0	0
FAM86FP	653113	broad.mit.edu	37	12	8385150	8385150	+	RNA	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:8385150G>A	uc010sgk.2	-	4		c.638C>T								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		TCTCCGTAGGGAAACAGTTTC	0.507000														194			17		0	0	0.000958276	0	0
OR4X2	119764	broad.mit.edu	37	11	48266725	48266725	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:48266725C>T	uc001ngs.1	+	0	70	c.70C>T	c.(70-72)Ctg>Ttg	p.L24L		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TGTGATATTTCTGTTCTTGTA	0.448000														49			11		0	0	0.000978159	0	0
ITPR1	3708	broad.mit.edu	37	3	4735216	4735216	+	Silent	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:4735216A>C	uc003bqc.3	+	31	4377	c.4027A>C	c.(4027-4029)Aga>Cga	p.R1343R	ITPR1_uc021wsi.1_Silent_p.R1349R|ITPR1_uc021wsj.1_Silent_p.R1334R|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1358					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)		CTACAACGACAGAGCCTCTTT	0.517000														97			16		0	0	0.000958276	0	0
UBN1	29855	broad.mit.edu	37	16	4927102	4927102	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:4927102C>T	uc002cyb.3	+	15	3594	c.3255C>T	c.(3253-3255)ggC>ggT	p.G1085G	UBN1_uc010uxw.2_Silent_p.G1085G|UBN1_uc002cyc.3_Silent_p.G1085G	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	1085					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						TCCACCATGGCCTTGGCCACA	0.582000														70			17		0	0	0.000958276	0	0
PRDM9	56979	broad.mit.edu	37	5	23522483	23522483	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:23522483G>A	uc003jgo.3	+	6	761	c.579G>A	c.(577-579)gaG>gaA	p.E193E		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	193					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CATACAAAGAGGTCAGCGAGC	0.448000										HNSCC(3;0.000094)				123			22		0	0	0.000720815	0	0
ITGAL	3683	broad.mit.edu	37	16	30500427	30500427	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:30500427C>T	uc002dyi.4	+	9	1207	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F	ITGAL_uc002dyj.4_Missense_Mutation_p.S261F|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.	344					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)	GACCTGACTTCCTTCAACATG	0.562000														24			17		0	0	0.00121646	0	0
PKDREJ	10343	broad.mit.edu	37	22	46653000	46653000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:46653000C>T	uc003bhh.3	-	0	6220	c.6220G>A	c.(6220-6222)Gat>Aat	p.D2074N		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	2074					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AGGCGCACATCGTAGAAGAAT	0.463000														30			8		0	0	0.000157383	0	0
GBP6	163351	broad.mit.edu	37	1	89848427	89848427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:89848427G>A	uc001dnf.2	+	7	1631	c.1357G>A	c.(1357-1359)Gga>Aga	p.G453R	GBP6_uc010ost.1_Missense_Mutation_p.G323R	NM_198460	NP_940862	Q6ZN66	GBP6_HUMAN	Homo sapiens guanylate binding protein family, member 6 (GBP6), mRNA.	453							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TCCCAGGAAAGGAGTAAAGGT	0.463000														26			18		0	0	0.00188189	0	0
VAT1L	57687	broad.mit.edu	37	16	77896678	77896678	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:77896678C>T	uc002ffg.1	+	3	710	c.613C>T	c.(613-615)Ccc>Tcc	p.P205S		NM_020927	NP_065978	Q9HCJ6	VAT1L_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica)-like (VAT1L), mRNA.	205							oxidoreductase activity|zinc ion binding	p.P205A(2)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						TTCCACTGTCCCCAACGTGAC	0.488000														38			18		0	0	0.00278032	0	0
CPXM2	119587	broad.mit.edu	37	10	125539742	125539742	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:125539742C>T	uc001lhk.1	-	6	1244	c.919G>A	c.(919-921)Gag>Aag	p.E307K	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	307					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GTGGTCATCTCGTTCCGGCGG	0.438000														76			27		0	0	0.000720815	0	0
NUP205	23165	broad.mit.edu	37	7	135300744	135300744	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:135300744C>T	uc003vsw.3	+	23	3422	c.3391C>T	c.(3391-3393)Cgt>Tgt	p.R1131C		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1131					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CTCTCTGAATCGTCAGCGGTC	0.403000														31			74		0	0	0.000781405	0	0
TMEM57	55219	broad.mit.edu	37	1	25773355	25773355	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:25773355C>T	uc001bkk.3	+	1	385	c.183C>T	c.(181-183)ttC>ttT	p.F61F	TMEM57_uc009vru.3_Silent_p.F61F|TMEM57_uc009vrv.3_Intron|TMEM57_uc009vrt.2_Non-coding_Transcript	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	61						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGCTTTTCATCAGAAGCG	0.438000														49			17		0	0	0.00121646	0	0
CACNA1E	777	broad.mit.edu	37	1	181764136	181764136	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:181764136A>G	uc009wxt.3	+	45	6359	c.6164A>G	c.(6163-6165)cAc>cGc	p.H2055R	CACNA1E_uc001gow.3_Missense_Mutation_p.H2012R|CACNA1E_uc009wxs.3_Missense_Mutation_p.H1993R	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	2055					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.V2054V(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CGGAGTTACCACTCCTCCTTG	0.542000														46			8		0	0	0.000978159	0	0
SCAND3	114821	broad.mit.edu	37	6	28543486	28543486	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:28543486C>T	uc003nlo.3	-	2	1614	c.996G>A	c.(994-996)gcG>gcA	p.A332A		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	332					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TCTTGTATTTCGCTTGTAACT	0.378000														165			21		0	0	0.00188189	0	0
LYPD1	116372	broad.mit.edu	37	2	133403776	133403776	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:133403776G>A	uc002ttm.4	-	3	416	c.316C>T	c.(316-318)Cca>Tca	p.P106S	GPR39_uc002ttl.3_3'UTR|LYPD1_uc002ttn.3_Missense_Mutation_p.P90S|LYPD1_uc002tto.3_Missense_Mutation_p.P38S	NM_001077427	NP_001070895	Q8N2G4	LYPD1_HUMAN	Homo sapiens LY6/PLAUR domain containing 1 (LYPD1), transcript variant 2, mRNA.	90	UPAR/Ly6.					anchored to membrane|plasma membrane				lung(2)	2						AGTTTCCCTGGGGAGCAGAAG	0.577000														21			8		0	0	0.000157383	0	0
OR2L8	391190	broad.mit.edu	37	1	248112298	248112298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248112298C>T	uc001idt.1	+	0	139	c.139C>T	c.(139-141)Ctc>Ttc	p.L47F	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CATGATTCTTCTCATCTTCTT	0.413000														122			24		0	0	0.000720815	0	0
ITGA8	8516	broad.mit.edu	37	10	15648354	15648354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:15648354G>A	uc001ioc.1	-	17	1832	c.1832C>T	c.(1831-1833)tCc>tTc	p.S611F	ITGA8_uc010qcb.1_Missense_Mutation_p.S596F	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	611					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTTAAAGGTGGATTCGTCCAA	0.363000														21			11		0	0	0.000673444	0	0
SAMSN1	64092	broad.mit.edu	37	21	15870776	15870776	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:15870776G>A	uc002yju.1	-	6	988	c.906C>T	c.(904-906)ttC>ttT	p.F302F	SAMSN1_uc010gky.1_Silent_p.F134F|SAMSN1_uc002yjv.1_Silent_p.F370F	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	302	SAM.				negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CTTCTTCAAGGAAGTTTTCAG	0.333000														55			13		0	0	0.000308642	0	0
CFTR	1080	broad.mit.edu	37	7	117175426	117175426	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:117175426T>G	uc003vjd.3	+	5	836	c.704T>G	c.(703-705)cTt>cGt	p.L235R	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	235	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GTCCTTGCCCTTTTTCAGGCT	0.438000									Cystic Fibrosis					75			8		0	0	0.000274275	0	0
PRDM10	56980	broad.mit.edu	37	11	129814867	129814867	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:129814867C>T	uc001qfm.3	-	5	793	c.561G>A	c.(559-561)ccG>ccA	p.P187P	PRDM10_uc001qfj.3_Silent_p.P101P|PRDM10_uc001qfk.3_Silent_p.P101P|PRDM10_uc001qfl.3_Silent_p.P101P|PRDM10_uc010sbx.2_Silent_p.P101P|PRDM10_uc001qfn.3_Silent_p.P187P|PRDM10_uc009zct.1_Silent_p.P219P	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GGCCGTGCTTCGGACACACTG	0.592000														19			12		0	0	0.00244969	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307287	39307287	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:39307287G>A	uc021wwc.1	-	1	850	c.810C>T	c.(808-810)atC>atT	p.I270I	CX3CR1_uc021wwa.1_Silent_p.I238I|CX3CR1_uc021wwb.1_Silent_p.I238I|CX3CR1_uc003cjl.3_Silent_p.I238I|CX3CR1_uc021wwd.1_Silent_p.I238I	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	238					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	p.I238I(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GGAAAAACACGATGACCACCA	0.428000														47			21		0	0	0.00229938	0	0
SCNN1G	6340	broad.mit.edu	37	16	23208639	23208639	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:23208639C>T	uc002dlm.1	+	5	1107	c.968C>T	c.(967-969)tCc>tTc	p.S323F		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	323					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)	TTCCTCGTGTCCTCCACTGGA	0.478000														14			14		0	0	0.00185496	0	0
GATA2	2624	broad.mit.edu	37	3	128199904	128199904	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:128199904G>A	uc003ekm.3	-	6	1836	c.1401C>T	c.(1399-1401)ttC>ttT	p.F467F	GATA2_uc003ekn.3_Silent_p.F453F|GATA2_uc003eko.2_Silent_p.F467F	NM_001145661	NP_116027	P23769	GATA2_HUMAN	Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA.	467					blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GGGGGTGGCCGAAGGAGAGGC	0.672000			Mis		AML(CML blast transformation)									22			5		0	0	0.000602214	0	0
GAD2	2572	broad.mit.edu	37	10	26508016	26508016	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:26508016C>T	uc001isp.2	+	3	834	c.331C>T	c.(331-333)Ctg>Ttg	p.L111L	GAD2_uc009xkr.3_Silent_p.L111L|GAD2_uc001isq.2_Silent_p.L111L	NM_001134366	NP_001127838	Q05329	DCE2_HUMAN	Homo sapiens glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa) (GAD2), transcript variant 2, mRNA.	111					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	Golgi membrane|cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	TTTGGCGTTTCTGCAAGATGT	0.368000														65			9		0	0	0.000673444	0	0
KRT2	3849	broad.mit.edu	37	12	53041994	53041994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:53041994C>T	uc001sat.3	-	4	1118	c.1085G>A	c.(1084-1086)aGg>aAg	p.R362K		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	362	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TTCCTTGCTCCTCTGGGCGAT	0.582000														57			17		0	0	0.00121646	0	0
MORC1	27136	broad.mit.edu	37	3	108725917	108725917	+	Missense_Mutation	SNP	C	T	T	rs138435095		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:108725917C>T	uc003dxl.3	-	17	1813	c.1726G>A	c.(1726-1728)Gaa>Aaa	p.E576K	MORC1_uc011bhn.2_Intron	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	576					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	p.E576K(4)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACAGTGATTTCGTCCACTGGT	0.363000														57			13		0	0	0.000422831	0	0
ZEB1	6935	broad.mit.edu	37	10	31749965	31749965	+	Splice_Site	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:31749965G>A	uc001ivs.4	+	2	122	c.59_splice	c.e2-1	p.V20_splice	ZEB1_uc001ivr.4_Splice_Site|ZEB1_uc010qef.2_Splice_Site|ZEB1_uc009xlh.1_Splice_Site|ZEB1_uc009xli.1_Splice_Site|ZEB1_uc009xlj.1_Splice_Site_p.V20_splice|ZEB1_uc010qeg.1_Intron|ZEB1_uc009xlk.1_Splice_Site|ZEB1_uc001ivu.4_Splice_Site_p.V20_splice|ZEB1_uc010qeh.2_Intron|ZEB1_uc001ivv.4_Splice_Site_p.V20_splice|ZEB1_uc001ivt.4_Splice_Site|ZEB1_uc009xll.2_Splice_Site|ZEB1_uc009xlm.1_Splice_Site|ZEB1_uc009xln.1_Splice_Site|ZEB1_uc009xlo.2_Splice_Site_p.V3_splice|ZEB1_uc009xlp.3_Splice_Site_p.V3_splice	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	20					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TTGTATTACAGTTACAAATTA	0.289000														24			4		0	0	0.000602214	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55329824	55329824	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:55329824G>A	uc002qhl.4	+	2	188	c.125G>A	c.(124-126)gGa>gAa	p.G42E	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.G42E|KIR3DL2_uc010esf.3_Intron|KIR3DL2_uc021vbo.1_Missense_Mutation_p.G42E|KIR3DL2_uc002qhk.4_Missense_Mutation_p.G42E			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	42	Ig-like C2-type 1.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GTGCCTCGAGGAGGACACGTG	0.527000														52			13		0	0	0.000422831	0	0
TMEM132A	54972	broad.mit.edu	37	11	60701052	60701052	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:60701052G>A	uc001nqi.3	+	7	1591	c.1398G>A	c.(1396-1398)aaG>aaA	p.K466K	TMEM132A_uc001nqj.3_Silent_p.K465K|TMEM132A_uc001nqk.3_Silent_p.K478K|TMEM132A_uc001nql.1_3'UTR	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	465						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						TGGCTGGCAAGGAGAGCCGGG	0.697000														13			16		0	0	0.000958276	0	0
ILDR2	387597	broad.mit.edu	37	1	166927179	166927179	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:166927179G>A	uc001gdx.2	-	1	262	c.206C>T	c.(205-207)tCc>tTc	p.S69F		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	69	Ig-like V-type.					integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CATGCCCAAGGATTCTCCCAT	0.547000														42			5		0	0	0.000602214	0	0
DLGAP3	58512	broad.mit.edu	37	1	35351751	35351752	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:35351751_35351752GG>AA	uc001byc.3	-	3	1521_1522	c.1521_1522CC>TT	c.(1519-1524)atccag>atTTag	p.Q508*		NM_001080418	NP_001073887	O95886	DLGP3_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 3 (DLGAP3), mRNA.	508					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		p.I507I(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				CAGCCGGCCTGGATGGCCCGGA	0.688000														11			4		0	0	6.4e-05	0	0
PDE6C	5146	broad.mit.edu	37	10	95372538	95372538	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:95372538T>G	uc001kiu.4	+	0	194	c.56T>G	c.(55-57)tTt>tGt	p.F19C		NM_006204	NP_006195	P51160	PDE6C_HUMAN	Homo sapiens phosphodiesterase 6C, cGMP-specific, cone, alpha prime (PDE6C), mRNA.	19					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AACCCTCAGTTTGCCAAGGAG	0.522000														31			17		0	0	0.00188189	0	0
SLC2A10	81031	broad.mit.edu	37	20	45355600	45355600	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:45355600C>G	uc002xsl.3	+	2	1483	c.1386C>G	c.(1384-1386)atC>atG	p.I462M		NM_030777	NP_110404	O95528	GTR10_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 10 (SLC2A10), mRNA.	462						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				ACCTCTTCATCAGCCTCTCCT	0.507000														63			21		0	0	0.00047179	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307170	39307170	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:39307170C>T	uc021wwc.1	-	1	967	c.927G>A	c.(925-927)gtG>gtA	p.V309V	CX3CR1_uc021wwa.1_Silent_p.V277V|CX3CR1_uc021wwb.1_Silent_p.V277V|CX3CR1_uc003cjl.3_Silent_p.V277V|CX3CR1_uc021wwd.1_Silent_p.V277V	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	277					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CCGTCTCAGTCACACTGAGGG	0.468000														75			21		0	0	0.00278032	0	0
UBE2MP1	606551	broad.mit.edu	37	16	34404168	34404168	+	RNA	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:34404168G>A	uc002edv.1	-	0		c.595C>T								Homo sapiens ubiquitin-conjugating enzyme E2M pseudogene 1 (UBE2MP1), non-coding RNA.																		GACCTCTGCGGCCTTCTTGTT	0.552000														15			4		0	0	0.00116845	0	0
GRIA3	2892	broad.mit.edu	37	X	122387391	122387391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:122387391G>A	uc004etq.4	+	2	798	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	GRIA3_uc004etr.4_Missense_Mutation_p.R169Q|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.R153Q	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	169					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GACACAGAACGAGGTAAGAAG	0.433000														20			8		0	0	0.00136819	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757201	56757201	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:56757201G>A	uc010rjp.2	+	0	813	c.813G>A	c.(811-813)atG>atA	p.M271I		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	271					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						AGGAAAATATGAAAGTGGCCT	0.358000														41			6		0	0	0.00198382	0	0
PDE1A	5136	broad.mit.edu	37	2	183011871	183011871	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:183011871C>T	uc002uoq.1	-	13	1723	c.1573G>A	c.(1573-1575)Gat>Aat	p.D525N	PDE1A_uc010zfp.1_Missense_Mutation_p.D421N|PDE1A_uc010zfq.1_Missense_Mutation_p.D525N	NM_005019	NP_005010	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 1, mRNA.	0					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)			TTATGAAGATCAGATTCACCT	0.308000														59			9		0	0	0.000274275	0	0
CCL7	6354	broad.mit.edu	37	17	32598267	32598267	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:32598267C>T	uc002hhz.3	+	1	249	c.179C>T	c.(178-180)cCc>cTc	p.P60L	CCL7_uc010ctf.3_Intron	NM_006273	NP_006264	P80098	CCL7_HUMAN	Homo sapiens chemokine (C-C motif) ligand 7 (CCL7), mRNA.	60					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	7	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		AGCCACTGTCCCCGGGAAGCT	0.493000														39			8		0	0	0.000442599	0	0
ARHGEF40	55701	broad.mit.edu	37	14	21543585	21543585	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:21543585C>T	uc001vzp.3	+	3	1574	c.1545C>T	c.(1543-1545)gcC>gcT	p.A515A	ARHGEF40_uc001vzn.1_Silent_p.A515A|ARHGEF40_uc001vzo.1_Intron|ARHGEF40_uc010aij.3_Non-coding_Transcript|ARHGEF40_uc010tln.2_5'UTR	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 40 (ARHGEF40), mRNA.	515					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						CAGAAGAGGCCCTTGCAGTCT	0.572000														32			12		0	0	0.00136819	0	0
TDRD5	163589	broad.mit.edu	37	1	179632540	179632540	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:179632540C>T	uc010pnp.2	+	15	3081	c.2563C>T	c.(2563-2565)Ctt>Ttt	p.L855F	TDRD5_uc021pfm.1_Missense_Mutation_p.L801F|TDRD5_uc001gnf.2_Missense_Mutation_p.L801F|TDRD5_uc021pfn.1_Missense_Mutation_p.L855F|TDRD5_uc001gnh.2_Missense_Mutation_p.L356F	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	832					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GCCTTCAGGCCTTGTAAATGG	0.398000														35			15		0	0	0.000422831	0	0
CEACAM20	125931	broad.mit.edu	37	19	45024608	45024608	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:45024608G>A	uc010ejn.1	-	4	946	c.930C>T	c.(928-930)atC>atT	p.I310I	CEACAM20_uc010ejo.1_Silent_p.I310I|CEACAM20_uc010ejp.1_Silent_p.I310I|CEACAM20_uc010ejq.1_Silent_p.I310I	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	310	Ig-like C2-type 3.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGCCATGGATGATTAGGGTCC	0.597000														117			20		0	0	0.00121646	0	0
CCNB3	85417	broad.mit.edu	37	X	50054033	50054033	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:50054033C>T	uc004dox.4	+	5	3162	c.2864C>T	c.(2863-2865)cCc>cTc	p.P955L	CCNB3_uc004doy.3_Missense_Mutation_p.P955L|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	955					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CAAGAGAGTCCCACCTACAAG	0.483000														21			4		0	0	0.00024832	0	0
DPEP2	64174	broad.mit.edu	37	16	68024017	68024017	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:68024017G>A	uc010cey.3	-	6	1091	c.927C>T	c.(925-927)gtC>gtT	p.V309V	DPEP2_uc002eve.3_Silent_p.V309V|DPEP2_uc002evf.3_Non-coding_Transcript	NM_022355	NP_071750	Q9H4A9	DPEP2_HUMAN	Homo sapiens dipeptidase 2 (DPEP2), mRNA.	309					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		ACACCATCACGACGCCACCGT	0.577000														25			7		0	0	0.00198382	0	0
TNC	3371	broad.mit.edu	37	9	117853099	117853099	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:117853099C>T	uc004bjj.4	-	1	611	c.199G>A	c.(199-201)Gat>Aat	p.D67N	TNC_uc010mvf.3_Missense_Mutation_p.D67N|TNC_uc022bmj.1_Missense_Mutation_p.D67N	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	67					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						GACTCCAGATCCACCGAACAC	0.552000														26			14		0	0	0.000566183	0	0
PAPLN	89932	broad.mit.edu	37	14	73716792	73716792	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:73716792G>A	uc010ttx.2	+	4	598	c.435G>A	c.(433-435)aaG>aaA	p.K145K	PAPLN_uc001xnw.4_Silent_p.K145K|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Silent_p.K145K	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	145						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		AGCCTGGCAAGAGGGATGTCT	0.627000														4			3		0	0	6.4e-05	0	0
APOA5	116519	broad.mit.edu	37	11	116661831	116661831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:116661831C>T	uc009yzg.3	-	1	624	c.192G>A	c.(190-192)atG>atA	p.M64I	APOA5_uc001ppr.3_Intron|APOA5_uc009yzf.3_Intron			Q6Q788	APOA5_HUMAN	Homo sapiens apolipoprotein A-V (APOA5), transcript variant 2, mRNA.	0					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		TAGCCTCCATCATCTCCTTTG	0.582000											OREG0021366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		40			12		0	0	0.000978159	0	0
FAM111B	374393	broad.mit.edu	37	11	58892634	58892634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:58892634G>A	uc001nnl.3	+	3	1307	c.1064G>A	c.(1063-1065)cGa>cAa	p.R355Q	FAM111B_uc001nnm.3_Missense_Mutation_p.R325Q|FAM111B_uc010rko.2_Missense_Mutation_p.R325Q|FAM111B_uc021qjn.1_Missense_Mutation_p.R325Q	NM_198947	NP_001136176	Q6SJ93	F111B_HUMAN	Homo sapiens family with sequence similarity 111, member B (FAM111B), transcript variant 1, mRNA.	355							catalytic activity	p.R355R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						AGTTTGCCCCGAAAATATAGG	0.398000														67			15		0	0	0.000422831	0	0
ISX	91464	broad.mit.edu	37	22	35478531	35478531	+	Silent	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:35478531A>C	uc003anj.3	+	1	1201	c.250A>C	c.(250-252)Agg>Cgg	p.R84R		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	84						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GAGCAAGCGGAGGGTTCGTAC	0.557000														28			4		0	0	0.00116845	0	0
FRYL	285527	broad.mit.edu	37	4	48597968	48597968	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:48597968A>G	uc003gyh.1	-	13	1690	c.1085T>C	c.(1084-1086)tTa>tCa	p.L362S	FRYL_uc003gyk.3_Missense_Mutation_p.L362S	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	362					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						AACCCACAATAATCTATACAA	0.274000														54			11		0	0	0.000308642	0	0
FBN3	84467	broad.mit.edu	37	19	8174176	8174176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:8174176G>A	uc002mjf.3	-	34	4570	c.4553C>T	c.(4552-4554)tCc>tTc	p.S1518F		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1518	TB 6.					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						GCAACAGCAGGAAGCTCGGGT	0.622000														13			13		0	0	0.00244969	0	0
A2M	2	broad.mit.edu	37	12	9241798	9241798	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:9241798G>A	uc001qvk.1	-	21	2881	c.2768C>T	c.(2767-2769)tCa>tTa	p.S923L	A2M_uc009zgk.1_Missense_Mutation_p.S773L	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	923					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	ACTCTTACCTGATGGACAAAG	0.328000														17			5		0	0	0.00198382	0	0
CRNN	49860	broad.mit.edu	37	1	152382913	152382913	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152382913C>T	uc001ezx.2	-	2	719	c.645G>A	c.(643-645)agG>agA	p.R215R		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	215	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGTTCCCTGGTCTGTG	0.572000														128			19		0	0	0.00152264	0	0
PRPF8	10594	broad.mit.edu	37	17	1584244	1584244	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:1584244G>A	uc002fte.3	-	6	1085	c.971C>T	c.(970-972)cCa>cTa	p.P324L		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	324						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GACATGGTGTGGAAGATTGTT	0.453000														159			43		0	0	0.000781405	0	0
LEF1	51176	broad.mit.edu	37	4	109004570	109004570	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:109004570G>A	uc003hyt.2	-	4	1769	c.580C>T	c.(580-582)Cct>Tct	p.P194S	LEF1_uc011cfj.1_Missense_Mutation_p.P79S|LEF1_uc011cfk.2_Missense_Mutation_p.P126S|LEF1_uc003hyu.2_Missense_Mutation_p.P194S|LEF1_uc003hyv.2_Missense_Mutation_p.P194S|LEF1_uc010imb.2_Non-coding_Transcript	NM_016269	NP_057353	Q9UJU2	LEF1_HUMAN	Homo sapiens lymphoid enhancer-binding factor 1 (LEF1), transcript variant 1, mRNA.	194	Pro-rich.				T-helper 1 cell differentiation|canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of DNA binding|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	cytoplasm|protein-DNA complex|transcription factor complex	C2H2 zinc finger domain binding|DNA bending activity|armadillo repeat domain binding|beta-catenin binding|caspase inhibitor activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TAAAAAGTAGGGATATCAGGA	0.463000														30			8		0	0	0.000442599	0	0
P2RY8	286530	broad.mit.edu	37	X	1584846	1584846	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:1584846G>A	uc022brv.1	-	0	606	c.606C>T	c.(604-606)ttC>ttT	p.F202F	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.F202F	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	202						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.L201L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		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)				ACGGGATGAGGAACAGCAGGA	0.637000			T	CRLF2	"""B-ALL, Downs associated ALL"""									18			5		0	0	0.000602214	0	0
SCN8A	6334	broad.mit.edu	37	12	52200862	52200862	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:52200862C>T	uc001ryw.3	+	26	5770	c.5592C>T	c.(5590-5592)atC>atT	p.I1864I	SCN8A_uc010snl.2_Silent_p.I1823I|hCG_1997999_uc001rzb.1_5'Flank	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1864					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AGTTGGACATCCTGCGGCAGC	0.557000														43			15		0	0	0.00074312	0	0
NRXN3	9369	broad.mit.edu	37	14	79181283	79181283	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:79181283C>T	uc001xun.3	+	4	1217	c.726C>T	c.(724-726)ttC>ttT	p.F242F	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Silent_p.F376F	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GCGACCTATTCATTGATGGGC	0.577000														15			5		0	0	0.000602214	0	0
TRBV19	28568	broad.mit.edu	37	7	142326771	142326771	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142326771C>T	uc003vzo.2	+	1	264	c.69C>T	c.(67-69)atC>atT	p.I23I	TRBV5-1_uc011krr.1_Intron|TRBV19_uc022anp.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		ATGGTGGAATCACTCAGTCCC	0.527000														40			9		0	0	0.000978159	0	0
OR4D5	219875	broad.mit.edu	37	11	123810615	123810615	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:123810615C>T	uc001pzk.1	+	0	292	c.292C>T	c.(292-294)Ctg>Ttg	p.L98L		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L98M(2)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGTGGATGCCTGACTCAACT	0.493000														52			13		0	0	0.00185496	0	0
SAMD12	401474	broad.mit.edu	37	8	119593061	119593061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:119593061C>T	uc003yom.2	-	1	214	c.85G>A	c.(85-87)Gaa>Aaa	p.E29K	SAMD12_uc010mda.1_Missense_Mutation_p.E29K|SAMD12_uc010mdb.1_Non-coding_Transcript	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.	29										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			CCTTCACCTTCAATTTGCAGT	0.443000														19			9		0	0	0.000442599	0	0
SLC7A13	157724	broad.mit.edu	37	8	87229936	87229936	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:87229936T>C	uc003ydq.1	-	2	1040	c.942A>G	c.(940-942)atA>atG	p.I314M	SLC7A13_uc003ydr.1_Missense_Mutation_p.I305M	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	314						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TTGCAAGATATATTGGTCTCG	0.378000														151			43		0	0	0.000781405	0	0
RIMS2	9699	broad.mit.edu	37	8	104778598	104778598	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:104778598G>A	uc003ylp.3	+	2	670	c.531G>A	c.(529-531)caG>caA	p.Q177Q		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 1, mRNA.	208	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGGCACCTCAGGAGAAGAAAC	0.453000										HNSCC(12;0.0054)				42			9		0	0	0.000978159	0	0
WIZ	58525	broad.mit.edu	37	19	15547765	15547765	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:15547765G>A	uc002nbb.4	-	2	595	c.381C>T	c.(379-381)acC>acT	p.T127T		NM_021241	NP_067064	O95785	WIZ_HUMAN	Homo sapiens widely interspaced zinc finger motifs (WIZ), mRNA.	963						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						CAGCAGCAGAGGTGGCCAGCA	0.682000														44			9		0	0	0.00136819	0	0
NT5DC3	51559	broad.mit.edu	37	12	104171643	104171643	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:104171643G>A	uc010swe.1	-	13	1652	c.1611C>T	c.(1609-1611)ttC>ttT	p.F537F		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA.	537							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GAGGGGTTCCGAAGGTGGGGG	0.587000														26			18		0	0	0.00121646	0	0
CUX2	23316	broad.mit.edu	37	12	111701574	111701574	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:111701574C>T	uc001tsa.2	+	3	386	c.232C>T	c.(232-234)Ctt>Ttt	p.L78F	CUX2_uc001tsb.2_Missense_Mutation_p.L133F	NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	78						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GGTGGTGGCCCTTAGTAAGAG	0.418000														187			45		0	0	0.000781405	0	0
COL3A1	1281	broad.mit.edu	37	2	189868843	189868843	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:189868843G>A	uc002uqj.1	+	38	2914	c.2797G>A	c.(2797-2799)Gga>Aga	p.G933R		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	933	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AGGAGAGAAGGGATCGCCTGG	0.493000														33			5		0	0	0.00198382	0	0
POLR3A	11128	broad.mit.edu	37	10	79781441	79781441	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:79781441C>T	uc001jzn.3	-	8	1182	c.1049_splice	c.e8-1	p.G350_splice		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	350					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)			CTAAATCGACCTAAATAGCCA	0.488000														26			9		0	0	0.000442599	0	0
STK19	8859	broad.mit.edu	37	6	31940079	31940079	+	Splice_Site	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31940079G>A	uc003nyv.3	+	2	349	c.221_splice	c.e2-1	p.G74_splice	DOM3Z_uc003nyp.1_5'Flank|DOM3Z_uc003nyq.1_5'Flank|DOM3Z_uc010jtl.1_5'Flank|STK19_uc003nyt.3_Missense_Mutation_p.G31E|DOM3Z_uc003nyu.1_5'Flank|STK19_uc011dow.2_Splice_Site_p.G74_splice|STK19_uc011dox.1_Missense_Mutation_p.G31E|STK19_uc003nyw.3_Splice_Site_p.G74_splice|STK19_uc010jtn.1_Splice_Site	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	74						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CCTGGTCTAGGAGGGACGCCC	0.607000														75			9		0	0	0.000978159	0	0
SH2D2A	9047	broad.mit.edu	37	1	156779576	156779576	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:156779576G>A	uc009wsh.2	-	5	761	c.621C>T	c.(619-621)tcC>tcT	p.S207S	SH2D2A_uc001fqc.1_Silent_p.S169S|SH2D2A_uc001fqd.2_Silent_p.S197S|SH2D2A_uc001fqe.2_Silent_p.S179S|SH2D2A_uc010phs.1_Silent_p.S197S	NM_001161441	NP_001154913	Q9NP31	SH22A_HUMAN	Homo sapiens SH2 domain containing 2A (SH2D2A), transcript variant 1, mRNA.	197	Pro-rich.				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGGTCCTCAGGGAAAGTCCTG	0.557000														93			20		0	0	0.00229938	0	0
C11orf41	25758	broad.mit.edu	37	11	33628311	33628311	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:33628311C>T	uc021qfs.1	+	12	4237	c.4113C>T	c.(4111-4113)ccC>ccT	p.P1371P		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	1371						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						CAGCCCTCCCCATGGTGCCCC	0.602000														6			4		0	0	0.000602214	0	0
PLCH1	23007	broad.mit.edu	37	3	155232633	155232633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:155232633C>T	uc021xge.1	-	10	1752	c.1475G>A	c.(1474-1476)aGg>aAg	p.R492K	PLCH1_uc021xgd.1_Missense_Mutation_p.R492K|PLCH1_uc021xgf.1_Missense_Mutation_p.R474K	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	492					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			CAGTTTTTTCCTTATGAAAGA	0.393000														30			6		0	0	0.00198382	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106579310	106579310	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:106579310T>A	uc009yxn.1	-	7	2402	c.2012A>T	c.(2011-2013)aAt>aTt	p.N671I	GUCY1A2_uc001pjg.1_Missense_Mutation_p.N640I|GUCY1A2_uc010rvo.1_Missense_Mutation_p.N661I	NM_000855	NP_000846	P33402	GCYA2_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 2 (GUCY1A2), transcript variant 2, mRNA.	640					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CAGTGTGACATTATTTCCAAA	0.498000														28			9		0	0	0.000673444	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103459777	103459777	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:103459777C>T	uc001vpu.2	+	0	282	c.160C>T	c.(160-162)Cca>Tca	p.P54S	BIVM-ERCC5_uc001vps.3_Missense_Mutation_p.P54S|BIVM-ERCC5_uc010agc.3_Intron|BIVM-ERCC5_uc001vpt.3_Missense_Mutation_p.P54S	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	25					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										TGGTCATTATCCATGGAGTTG	0.448000														28			10		0	0	0.00244969	0	0
DYSF	8291	broad.mit.edu	37	2	71783145	71783145	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:71783145G>A	uc010fen.3	+	21	2301	c.2160G>A	c.(2158-2160)acG>acA	p.T720T	DYSF_uc010fei.3_Silent_p.T719T|DYSF_uc010feh.3_Silent_p.T688T|DYSF_uc002sig.4_Silent_p.T688T|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.T733T|DYSF_uc010fee.3_Silent_p.T702T|DYSF_uc010fef.3_Silent_p.T719T|DYSF_uc002sie.3_Silent_p.T702T|DYSF_uc010feo.3_Silent_p.T734T|DYSF_uc010fej.3_Silent_p.T689T|DYSF_uc010fel.3_Silent_p.T689T|DYSF_uc010fem.3_Silent_p.T703T|DYSF_uc002sif.3_Silent_p.T703T|DYSF_uc010fek.3_Silent_p.T720T	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	702						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGTGCTCCACGGAGGACGTGG	0.667000														5			6		0	0	0.00198382	0	0
KIF18A	81930	broad.mit.edu	37	11	28112980	28112980	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:28112980G>A	uc001msc.2	-	3	746	c.564C>T	c.(562-564)gtC>gtT	p.V188V		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	Homo sapiens kinesin family member 18A (KIF18A), mRNA.	188	Kinesin-motor.				blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	ATP binding|actin binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						GTCCATGAACGACCACCCCTT	0.378000														107			19		0	0	0.00278032	0	0
PADI1	29943	broad.mit.edu	37	1	17548896	17548896	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:17548896G>A	uc001bah.1	+	1	296	c.204G>A	c.(202-204)tgG>tgA	p.W68*		NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN	Homo sapiens peptidyl arginine deiminase, type I (PADI1), mRNA.	68					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AGGCCCGTTGGCCGCTAGACA	0.532000														67			26		0	0	0.00209593	0	0
WDR33	55339	broad.mit.edu	37	2	128467267	128467267	+	Splice_Site	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:128467267C>A	uc002tpg.2	-	19	3671	c.3472_splice	c.e19+1	p.G1158_splice		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	1158					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)		ACTCGCTCACCTCGTGGGGTA	0.527000														63			22		3.08376e-08	1.0386e-07	0.00047179	1	0
TG	7038	broad.mit.edu	37	8	133894855	133894855	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:133894855G>A	uc003ytw.3	+	6	928	c.887G>A	c.(886-888)cGa>cAa	p.R296Q		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	296	Thyroglobulin type-1 3.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGCAGATTCCGATGTAAGTAA	0.512000														44			8		0	0	0.000157383	0	0
TSC1	7248	broad.mit.edu	37	9	135796754	135796754	+	Nonsense_Mutation	SNP	G	A	A	rs118203434		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:135796754G>A	uc004cca.2	-	7	967	c.733C>T	c.(733-735)Cga>Tga	p.R245*	TSC1_uc004ccb.3_Nonsense_Mutation_p.R245*|TSC1_uc011mcq.1_Nonsense_Mutation_p.R194*|TSC1_uc011mcr.2_Nonsense_Mutation_p.R124*|TSC1_uc011mcs.1_Nonsense_Mutation_p.R124*|TSC1_uc004ccc.1_Nonsense_Mutation_p.R245*|TSC1_uc004cce.1_Nonsense_Mutation_p.R245*	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	245					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of TOR signaling cascade|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of translation|positive regulation of focal adhesion assembly|rRNA export from nucleus|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly	TSC1-TSC2 complex|cell cortex|lamellipodium|membrane	chaperone binding|protein N-terminus binding	p.R245R(2)|p.R245*(2)|p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTATACCTTCGAGGGTCCAGT	0.393000			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis					17			14		0	0	0.00074312	0	0
AIMP2	7965	broad.mit.edu	37	7	6063007	6063007	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:6063007C>A	uc003spo.3	+	3	761	c.648C>A	c.(646-648)ttC>ttA	p.F216L	EIF2AK1_uc003spp.3_3'UTR|EIF2AK1_uc003spq.3_3'UTR	NM_006303	NP_006294	Q13155	AIMP2_HUMAN	Homo sapiens aminoacyl tRNA synthetase complex-interacting multifunctional protein 2 (AIMP2), mRNA.	216	Interaction with TP53.				apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TTGCACGTTTCTTGTTCTCTC	0.458000														65			12		1.5842e-08	5.33819e-08	0.00185496	1	0
TCRA	0	broad.mit.edu	37	14	22554751	22554751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:22554751C>T	uc001wcz.1	+	0	83	c.23C>T	c.(22-24)tCa>tTa	p.S8L	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.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_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_5'Flank					SubName: Full=HADV23S1; Flags: Fragment;																		TTAGGAGCATCATTTTTAGTT	0.443000														14			6		0	0	0.00116845	0	0
NLRP14	338323	broad.mit.edu	37	11	7070920	7070920	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:7070920C>T	uc001mfb.1	+	5	2465	c.2142C>T	c.(2140-2142)ttC>ttT	p.F714F		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	714					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)		TTATCACTTTCCCTGATGGTT	0.358000														64			8		0	0	0.000442599	0	0
THSD7A	221981	broad.mit.edu	37	7	11676392	11676392	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:11676392C>T	uc021zzo.1	-	1	639	c.387G>A	c.(385-387)tgG>tgA	p.W129*	THSD7A_uc021zzn.1_Nonsense_Mutation_p.W129*	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	129						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GACACTGATTCCAAGGTCCCA	0.468000										HNSCC(18;0.044)				42			9		0	0	0.000274275	0	0
MS4A8B	83661	broad.mit.edu	37	11	60482806	60482806	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:60482806C>T	uc001npv.3	+	6	875	c.672C>T	c.(670-672)atC>atT	p.I224I		NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), mRNA.	224						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ATCCAAACATCTATGCAGCAA	0.512000														29			5		0	0	0.00116845	0	0
ZNF184	7738	broad.mit.edu	37	6	27419126	27419126	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:27419126G>A	uc003njj.3	-	4	3023	c.2212C>T	c.(2212-2214)Cgc>Tgc	p.R738C	ZNF184_uc010jqv.3_Missense_Mutation_p.R738C|ZNF184_uc003nji.3_Missense_Mutation_p.R738C	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	738					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGAGCAGAGCGATATCTGAAG	0.383000														175			20		0	0	0.00047179	0	0
ZNF318	24149	broad.mit.edu	37	6	43305007	43305007	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:43305007G>A	uc003oux.3	-	9	6807	c.6729C>T	c.(6727-6729)tcC>tcT	p.S2243S	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	2243					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCCTTGGAGGGGACCTTGACA	0.488000														33			16		0	0	0.000958276	0	0
CD36	948	broad.mit.edu	37	7	80301345	80301345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:80301345G>A	uc003uhc.3	+	13	1798	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	CD36_uc011kgv.2_Missense_Mutation_p.D296N|CD36_uc003uhd.4_Missense_Mutation_p.D372N|CD36_uc003uhe.4_Missense_Mutation_p.D372N|CD36_uc003uhf.4_Missense_Mutation_p.D372N|CD36_uc003uhg.4_Missense_Mutation_p.D372N|CD36_uc003uhh.4_Missense_Mutation_p.D372N|CD36_uc022agu.1_Missense_Mutation_p.D333N|CD36_uc022agv.1_Missense_Mutation_p.D312N	NM_001127444	NP_001120916	P16671	CD36_HUMAN	Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.	372					cGMP-mediated signaling|cell adhesion|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GACATACTTGGATATTGAACC	0.294000														111			21		0	0	0.000878237	0	0
FLOT1	10211	broad.mit.edu	37	6	30708088	30708088	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:30708088C>T	uc003nrm.3	-	8	735	c.571_splice	c.e8-1	p.E191_splice	FLOT1_uc011dmr.2_Splice_Site_p.E143_splice	NM_005803	NP_005794	O75955	FLOT1_HUMAN	Homo sapiens flotillin 1 (FLOT1), mRNA.	191						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						CTTTAGCTTCCTGTCCAAGCA	0.522000														71			8		0	0	0.000157383	0	0
USP29	57663	broad.mit.edu	37	19	57640373	57640373	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:57640373C>T	uc002qny.3	+	3	686	c.330C>T	c.(328-330)ccC>ccT	p.P110P	USP29_uc021vci.1_Silent_p.P110P	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	110					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTCAGCAACCCATGAAATCTG	0.348000														24			18		0	0	0.00074312	0	0
SLC17A1	6568	broad.mit.edu	37	6	25801146	25801146	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:25801146G>A	uc003nfh.4	-	10	1357	c.1241C>T	c.(1240-1242)tCc>tTc	p.S414F	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Missense_Mutation_p.S414F|SLC17A1_uc010jqc.1_Missense_Mutation_p.S358F	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	414					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AGTCAAAGTGGAAGCAATTAG	0.289000														145			19		0	0	0.00229938	0	0
TET3	200424	broad.mit.edu	37	2	74275145	74275145	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:74275145C>T	uc002skb.4	+	0	1696	c.1696C>T	c.(1696-1698)Ccc>Tcc	p.P566S	TET3_uc010fez.2_Missense_Mutation_p.P566S	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	566							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGCCCTCTTCCCCCTGCCGA	0.612000														23			8		0	0	0.000442599	0	0
TCP11L1	55346	broad.mit.edu	37	11	33090374	33090374	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:33090374C>T	uc001mud.3	+	8	1696	c.1296C>T	c.(1294-1296)gcC>gcT	p.A432A	TCP11L1_uc009yju.3_Silent_p.A247A|TCP11L1_uc010rei.2_Silent_p.A432A|TCP11L1_uc001mue.3_Silent_p.A432A|TCP11L1_uc001muf.1_Non-coding_Transcript	NM_018393	NP_060863	Q9NUJ3	T11L1_HUMAN	Homo sapiens t-complex 11 (mouse)-like 1 (TCP11L1), transcript variant 1, mRNA.	432										kidney(1)|liver(2)|lung(2)|skin(1)	6						AGGCCGTGGCCAGTCCCGATG	0.627000														7			8		0	0	0.000274275	0	0
BAALC	79870	broad.mit.edu	37	8	104240216	104240216	+	Splice_Site	SNP	G	A	A	rs117445972	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:104240216G>A	uc003yld.3	+	3	533	c.328_splice	c.e3-1	p.A110_splice	BAALC_uc003yle.3_Splice_Site_p.G54_splice|LOC100499183_uc003ylf.2_Intron|BAALC_uc010mcc.3_Splice_Site	NM_024812	NP_079088	Q8WXS3	BAALC_HUMAN	Homo sapiens brain and acute leukemia, cytoplasmic (BAALC), transcript variant 1, mRNA.	145						centrosome|membrane|nucleus				kidney(1)|large_intestine(3)|lung(3)	7			OV - Ovarian serous cystadenocarcinoma(57;3.49e-05)|STAD - Stomach adenocarcinoma(118;0.133)			CAACTTAACAGGCTAAAAGAG	0.368000														50			11		0	0	0.000978159	0	0
DOCK1	1793	broad.mit.edu	37	10	129224186	129224186	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:129224186G>A	uc010qun.2	+	46	4889	c.4825G>A	c.(4825-4827)Gag>Aag	p.E1609K	DOCK1_uc001ljt.3_Missense_Mutation_p.E1588K|DOCK1_uc009yaq.3_Missense_Mutation_p.E583K	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1588	DHR-2.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CAAAGTCACGGAGGCACTGAG	0.488000														74			44		0	0	0.000781405	0	0
KCND2	3751	broad.mit.edu	37	7	120373106	120373106	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:120373106G>A	uc003vjj.1	+	1	2230	c.1265G>A	c.(1264-1266)cGa>cAa	p.R422Q		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	422					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GCAGACAAACGAAGGGCACAA	0.438000														24			6		0	0	0.00198382	0	0
OR8H2	390151	broad.mit.edu	37	11	55873148	55873148	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:55873148C>T	uc010riy.2	+	0	630	c.630C>T	c.(628-630)tcC>tcT	p.S210S		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TGATGGTGTCCCTTTTCACAA	0.403000										HNSCC(53;0.14)				56			9		0	0	0.000442599	0	0
CAPSL	133690	broad.mit.edu	37	5	35921110	35921110	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:35921110G>A	uc003jjt.1	-	1	208	c.113C>T	c.(112-114)tCt>tTt	p.S38F	CAPSL_uc003jju.1_Missense_Mutation_p.S38F	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	38						cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			GATCCCAGCAGAGCCCCTGGC	0.602000														35			4		0	0	0.00116845	0	0
RGPD4	285190	broad.mit.edu	37	2	108477238	108477238	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:108477238C>T	uc010ywk.2	+	12	1857	c.1775C>T	c.(1774-1776)tCt>tTt	p.S592F	RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	592					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GGTCTTAATTCTTTTTATGAT	0.323000														140			34		0	0	0.00148497	0	0
RAB2A	5862	broad.mit.edu	37	8	61496781	61496781	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:61496781C>T	uc003xud.2	+	3	499	c.201C>T	c.(199-201)tcC>tcT	p.S67S	RAB2A_uc011lef.2_Silent_p.S43S	NM_002865	NP_002856	P61019	RAB2A_HUMAN	Homo sapiens RAB2A, member RAS oncogene family (RAB2A), transcript variant 1, mRNA.	67					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane|melanosome	GDP binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			GGCAAGAATCCTTTCGTTCCA	0.378000														202			25		0	0	0.00209593	0	0
PRDX3	10935	broad.mit.edu	37	10	120934047	120934047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:120934047G>A	uc001lec.3	-	2	270	c.227C>T	c.(226-228)gCc>gTc	p.A76V	PRDX3_uc021pzp.1_Missense_Mutation_p.A58V	NM_006793	NP_006784	P30048	PRDX3_HUMAN	Homo sapiens peroxiredoxin 3 (PRDX3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	76	Thioredoxin.				cell redox homeostasis|hydrogen peroxide catabolic process|mitochondrion organization|myeloid cell differentiation|negative regulation of kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of cell proliferation|regulation of mitochondrial membrane potential|response to lipopolysaccharide	early endosome|mitochondrion	alkyl hydroperoxide reductase activity|caspase inhibitor activity|peroxidase activity|peroxiredoxin activity|protein C-terminus binding|protein kinase binding			endometrium(1)|lung(2)	3		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0245)		ATTGACAACGGCTGTACCCTT	0.408000														27			10		0	0	0.000978159	0	0
FRG2B	441581	broad.mit.edu	37	10	135440150	135440150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:135440150C>T	uc010qvg.2	-	0	150	c.97G>A	c.(97-99)Ggc>Agc	p.G33S		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	33						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TCATCTGAGCCCTTTTCTGTA	0.507000														66			14		0	0	0.00152264	0	0
FOXP2	93986	broad.mit.edu	37	7	114282672	114282672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:114282672G>A	uc003vhb.3	+	6	1357	c.983G>A	c.(982-984)cGa>cAa	p.R328Q	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.R353Q|FOXP2_uc003vha.3_Missense_Mutation_p.R236Q|FOXP2_uc011kmv.2_Missense_Mutation_p.R327Q|FOXP2_uc011kmu.2_Missense_Mutation_p.R345Q|FOXP2_uc010ljz.2_Missense_Mutation_p.R236Q|FOXP2_uc003vgx.2_Missense_Mutation_p.R328Q|FOXP2_uc003vhc.3_Missense_Mutation_p.R353Q|FOXP2_uc003vhd.3_Missense_Mutation_p.R328Q	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	328					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	DNA bending activity|chromatin binding|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						AGTGCAAGACGAGACAGGTAA	0.363000														72			10		0	0	0.000442599	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757188	56757188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:56757188C>T	uc010rjp.2	+	0	800	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	267					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						TCTAATAATTCCCAGGAAAAT	0.363000														39			7		0	0	0.000274275	0	0
RAG2	5897	broad.mit.edu	37	11	36615272	36615272	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:36615272C>T	uc021qge.1	-	0	447	c.447G>A	c.(445-447)ggG>ggA	p.G149G	RAG2_uc021qgc.1_Silent_p.G149G|RAG2_uc021qgd.1_Silent_p.G149G|RAG2_uc001mwv.4_Silent_p.G149G|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	149					T cell differentiation in thymus|V(D)J recombination|chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins	nucleus	DNA binding|chromatin binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CCATACTTTTCCCTCGGCTGT	0.453000									Familial Hemophagocytic Lymphohistiocytosis					88			18		0	0	0.00152264	0	0
ADC	113451	broad.mit.edu	37	1	33583691	33583691	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:33583691C>T	uc009vug.3	+	7	1350	c.1278C>T	c.(1276-1278)atC>atT	p.I426I	ADC_uc001bwr.3_Silent_p.I406I|ADC_uc001bws.3_Silent_p.I406I|ADC_uc009vue.3_Silent_p.I406I|ADC_uc001bwt.1_Silent_p.I311I|ADC_uc001bwu.3_Silent_p.I311I|ADC_uc001bwv.3_Silent_p.I311I|ADC_uc001bwx.1_Silent_p.I383I	NM_052998	NP_443724	Q96A70	ADC_HUMAN	Homo sapiens arginine decarboxylase (ADC), mRNA.	406					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	CCTGCCACATCACCTATGCCA	0.587000														22			7		0	0	0.00198382	0	0
BEST3	144453	broad.mit.edu	37	12	70048977	70048977	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:70048977C>T	uc001svg.3	-	9	1944	c.1717G>A	c.(1717-1719)Gaa>Aaa	p.E573K	BEST3_uc001svd.2_Intron|BEST3_uc001svf.3_Missense_Mutation_p.E360K|BEST3_uc010stm.2_Missense_Mutation_p.E467K	NM_032735	NP_116124	Q8N1M1	BEST3_HUMAN	Homo sapiens bestrophin 3 (BEST3), transcript variant 1, mRNA.	573						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			AATATATTTTCCTCAGCGCTG	0.552000														25			7		0	0	0.00198382	0	0
DUSP10	11221	broad.mit.edu	37	1	221879692	221879692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:221879692G>A	uc001hmy.2	-	2	1165	c.928C>T	c.(928-930)Ccc>Tcc	p.P310S	DUSP10_uc001hmx.2_5'UTR|DUSP10_uc001hmz.2_5'UTR	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	Homo sapiens dual specificity phosphatase 10 (DUSP10), transcript variant 1, mRNA.	310					JNK cascade|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GTGGGGATGGGCTGAGGTAGC	0.607000														72			10		0	0	0.00185496	0	0
KRT35	3886	broad.mit.edu	37	17	39635090	39635090	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:39635090G>A	uc002hws.3	-	3	912	c.869C>T	c.(868-870)aCc>aTc	p.T290I		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	290	Coil 2.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				ACCTACCTGGGTGTCCAACCA	0.537000														50			10		0	0	0.00136819	0	0
KRT82	3888	broad.mit.edu	37	12	52788801	52788801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:52788801C>T	uc001sai.1	-	8	1615	c.1500G>A	c.(1498-1500)atG>atA	p.M500I		NM_033033	NP_149022	Q9NSB4	KRT82_HUMAN	Homo sapiens keratin 82 (KRT82), mRNA.	500	Tail.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CTCCTAGCGTCATGCTGGATT	0.632000														21			9		0	0	0.000274275	0	0
KCNH6	81033	broad.mit.edu	37	17	61611489	61611489	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:61611489C>T	uc002jay.3	+	4	998	c.918C>T	c.(916-918)atC>atT	p.I306I	KCNH6_uc002jax.1_Silent_p.I306I|KCNH6_uc010wpl.2_Silent_p.I183I|KCNH6_uc010wpm.2_Silent_p.I306I|KCNH6_uc002jaz.1_Silent_p.I306I	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	306					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TGGATCTCATCGTGGACATCA	0.597000														116			18		0	0	0.00188189	0	0
KIAA0408	9729	broad.mit.edu	37	6	127770989	127770989	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:127770989G>A	uc011ebs.2	-	3	892	c.556C>T	c.(556-558)Cga>Tga	p.R186*	KIAA0408_uc003qbc.3_Nonsense_Mutation_p.R186*|SOGA3_uc003qbd.3_3'UTR|KIAA0408_uc003qba.3_5'Flank|KIAA0408_uc003qbb.3_Nonsense_Mutation_p.R69*	NM_014702	NP_055517	Q6ZU52	K0408_HUMAN	Homo sapiens KIAA0408 (KIAA0408), mRNA.	186							protein binding	p.R186*(2)		endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		GACCGCTTTCGAATTTCCTCT	0.363000														39			10		0	0	0.000673444	0	0
SHANK2	22941	broad.mit.edu	37	11	70333413	70333413	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:70333413G>A	uc001oqc.3	-	20	2899	c.2787C>T	c.(2785-2787)atC>atT	p.I929I	SHANK2_uc010rqn.2_Silent_p.I405I|SHANK2_uc001opz.3_Silent_p.I400I|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.	616					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)			CTTTGCTGGCGATCTTCCCCA	0.607000														65			19		0	0	0.00152264	0	0
FAM83B	222584	broad.mit.edu	37	6	54791295	54791295	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:54791295A>G	uc003pck.3	+	2	687	c.571A>G	c.(571-573)Atg>Gtg	p.M191V		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	191								p.M191I(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTTTCTAAATATGACTGAGAA	0.343000														66			33		0	0	0.0024448	0	0
KCNJ11	3767	broad.mit.edu	37	11	17409117	17409117	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:17409117G>A	uc001mna.3	-	0	1090	c.522C>T	c.(520-522)gcC>gcT	p.A174A	KCNJ11_uc001mnb.4_Silent_p.A87A	NM_000525	NP_001159762	B4DWI4	B4DWI4_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 11 (KCNJ11), transcript variant 1, mRNA.	87						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		CCCTGCGGTGGGCTTGGGCAG	0.597000											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		146			44		0	0	0.0025221	0	0
STAR	6770	broad.mit.edu	37	8	38005786	38005787	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:38005786_38005787CC>TT	uc003xkv.1	-	2	501_502	c.237_238GG>AA	c.(235-240)ggggag>ggAAag	p.E80K		NM_000349	NP_000340	P49675	STAR_HUMAN	Homo sapiens steroidogenic acute regulatory protein (STAR), nuclear gene encoding mitochondrial protein, mRNA.	80	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		ATGGCCTCCTCCCCCTGCTGGA	0.574000														18			5		0	0	6.4e-05	0	0
CSMD1	64478	broad.mit.edu	37	8	2965246	2965246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:2965246C>T	uc022aqr.1	-	44	7219	c.6829G>A	c.(6829-6831)Gaa>Aaa	p.E2277K	CSMD1_uc011kwj.2_Missense_Mutation_p.E1670K|CSMD1_uc010lrg.3_Missense_Mutation_p.E346K	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2278	Sushi 13.					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)		TTACCTATTTCGAAATCATCA	0.358000														113			19		0	0	0.00278032	0	0
CASK	8573	broad.mit.edu	37	X	41646436	41646436	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:41646436G>A	uc004dfl.4	-	2	319	c.273C>T	c.(271-273)ttC>ttT	p.F91F	CASK_uc004dfm.4_Silent_p.F91F|CASK_uc004dfn.4_Silent_p.F91F	NM_003688	NP_003679	O14936	CSKP_HUMAN	Homo sapiens calcium/calmodulin-dependent serine protein kinase (MAGUK family) (CASK), transcript variant 1, mRNA.	91	Protein kinase.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CTCACAATTCGAAAACCATGT	0.358000														69			27		0	0	0.000720815	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169132	50169132	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:50169132C>T	uc002ppa.3	+	0	734	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W	IRF3_uc002poy.2_5'Flank|IRF3_uc021uxp.1_Splice_Site|IRF3_uc021uxq.1_Splice_Site|IRF3_uc002pot.2_Splice_Site|IRF3_uc021uxr.1_Splice_Site|IRF3_uc021uxs.1_Splice_Site|IRF3_uc002pow.3_Splice_Site|IRF3_uc021uxo.1_Splice_Site|IRF3_uc002pou.3_Splice_Site|IRF3_uc010end.2_Splice_Site|IRF3_uc002poz.1_5'Flank|IRF3_uc010ene.1_5'Flank|BCL2L12_uc002ppb.3_Missense_Mutation_p.R18W	NM_138639	NP_619580	Q9HB09	B2L12_HUMAN	Homo sapiens BCL2-like 12 (proline rich) (BCL2L12), transcript variant 1, mRNA.	18					apoptosis					central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TTTGGGTTTCCGGCCAGAGGC	0.577000														39			5		0	0	0.000274275	0	0
GNG8	94235	broad.mit.edu	37	19	47137369	47137370	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:47137369_47137370GG>AA	uc010xyd.2	-	1	176_177	c.176_177CC>TT	c.(175-177)ccc>cTT	p.P59L		NM_033258	NP_150283	Q9UK08	GBG8_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 8 (GNG8), mRNA.	59					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity						Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.000621)|Epithelial(262;0.0171)|GBM - Glioblastoma multiforme(486;0.0325)		TGTCGCGGAAGGGGTTCTCCGC	0.594000														22			5		0	0	6.4e-05	0	0
EPB41L3	23136	broad.mit.edu	37	18	5433499	5433499	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:5433499G>A	uc002kmt.1	-	7	967	c.881C>T	c.(880-882)tCa>tTa	p.S294L	EPB41L3_uc010wzh.1_Missense_Mutation_p.S294L|EPB41L3_uc002kmu.1_Missense_Mutation_p.S294L|EPB41L3_uc010dkq.1_Missense_Mutation_p.S185L|EPB41L3_uc010dks.1_Missense_Mutation_p.S316L	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	294	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCCATACATTGATAATTTTTT	0.333000														36			5		0	0	0.00116845	0	0
DCC	1630	broad.mit.edu	37	18	50985602	50985602	+	Splice_Site	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:50985602G>A	uc002lfe.2	+	24	4009	c.3393_splice	c.e24-1	p.K1131_splice	DCC_uc010dpf.2_Splice_Site_p.K766_splice	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1131					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTTCCATAGGAAACGGGCCA	0.443000														14			24		0	0	0.000878237	0	0
WFS1	7466	broad.mit.edu	37	4	6303031	6303031	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:6303031C>T	uc003giy.3	+	7	1675	c.1509C>T	c.(1507-1509)gtC>gtT	p.V503V	WFS1_uc003gix.3_Silent_p.V503V|WFS1_uc003giz.3_Silent_p.V321V	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	503					ER overload response|ER-associated protein catabolic process|endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	ATPase binding|activating transcription factor binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		ACGTCAGCGTCCCGTGCCTGC	0.577000														221			52		0	0	0.000781405	0	0
FAM177B	400823	broad.mit.edu	37	1	222919965	222919965	+	Silent	SNP	C	T	T	rs140872706	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:222919965C>T	uc001hnt.3	+	2	344	c.78C>T	c.(76-78)atC>atT	p.I26I	AK094916_uc001hnr.1_Intron|FAM177B_uc009xeb.3_Non-coding_Transcript	NM_207468	NP_997351	A6PVY3	F177B_HUMAN	Homo sapiens family with sequence similarity 177, member B (FAM177B), mRNA.	26										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						AAAGGATTATCCATTTTGTTG	0.408000														35			10		0	0	0.000978159	0	0
BC128131	0	broad.mit.edu	37	19	23159413	23159413	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:23159413G>A	uc002nqz.1	-	1	560	c.534C>T	c.(532-534)atC>atT	p.I178I	BC128131_uc002nqy.1_Non-coding_Transcript					Homo sapiens zinc finger protein 117, mRNA (cDNA clone IMAGE:40112371).																		GCTTAGTAAGGATTGAGAACT	0.398000														11			4		0	0	0.00024832	0	0
MMRN1	22915	broad.mit.edu	37	4	90857003	90857003	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:90857003G>A	uc003hst.3	+	5	2243	c.2172G>A	c.(2170-2172)atG>atA	p.M724I	MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Missense_Mutation_p.M466I	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	724					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)		CCTTAGAAATGGAAGATGGCC	0.313000														29			5		0	0	0.000602214	0	0
WFDC11	259239	broad.mit.edu	37	20	44279156	44279156	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:44279156C>T	uc002xpa.3	-	2	279	c.84G>A	c.(82-84)agG>agA	p.R28R		NM_147197	NP_671730	Q8NEX6	WFD11_HUMAN	Homo sapiens WAP four-disulfide core domain 11 (WFDC11), mRNA.	28						extracellular region				endometrium(1)|lung(4)	5		Myeloproliferative disorder(115;0.0122)				ATCTTTTCTTCCTCATTTCTC	0.493000														49			6		0	0	0.00198382	0	0
RUFY2	55680	broad.mit.edu	37	10	70105649	70105650	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:70105649_70105650CC>AA	uc001job.3	-	17	2128_2129	c.1801_1802GG>TT	c.(1801-1803)ggg>TTg	p.G601L	RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joa.3_Missense_Mutation_p.G156L	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.	615						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GAAAATTTCCCCACAATTTCTA	0.381000														140			9		0	0	6.4e-05	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751356	26751356	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:26751356G>A	uc003cdp.3	+	1	782	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K	LRRC3B_uc003cdq.3_Missense_Mutation_p.E65K|LRRC3B_uc021wuj.1_Missense_Mutation_p.E65K	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	65						integral to membrane		p.P64H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TCTTCCTCCTGAAACAGTCTT	0.418000														21			6		0	0	0.00198382	0	0
LIMK1	3984	broad.mit.edu	37	7	73520478	73520478	+	Silent	SNP	G	A	A	rs55770268		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:73520478G>A	uc003uaa.2	+	6	1000	c.786G>A	c.(784-786)ctG>ctA	p.L262L	LIMK1_uc010lbl.2_Non-coding_Transcript|LIMK1_uc003uab.3_Silent_p.L228L|LIMK1_uc003uac.1_Silent_p.L54L	NM_002314	NP_002305	P53667	LIMK1_HUMAN	Homo sapiens LIM domain kinase 1 (LIMK1), transcript variant 1, mRNA.	262					Rho protein signal transduction|actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				ACGATACACTGGGCCACGGGC	0.632000														50			88		0	0	0.000781405	0	0
HEPACAM2	253012	broad.mit.edu	37	7	92826821	92826821	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:92826821C>T	uc011khy.2	-	5	1207	c.1184G>A	c.(1183-1185)tGg>tAg	p.W395*	HEPACAM2_uc003uml.3_Nonsense_Mutation_p.W360*|HEPACAM2_uc010lff.3_Nonsense_Mutation_p.W360*|HEPACAM2_uc003umm.3_Nonsense_Mutation_p.W372*	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	372						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						ATATTTTTTCCATAGGAAGAG	0.308000														55			5		0	0	0.000602214	0	0
TTN	7273	broad.mit.edu	37	2	179575397	179575397	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179575397C>T	uc021vsy.1	-	94	24920	c.24695G>A	c.(24694-24696)gGa>gAa	p.G8232E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G4893E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9159	Ig-like 65.						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)			AGAGTCTTTTCCCACTTCATT	0.403000														86			13		0	0	0.00244969	0	0
SOX7	83595	broad.mit.edu	37	8	10583325	10583325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:10583325C>T	uc011kwz.2	-	5	1279	c.1246G>A	c.(1246-1248)Ggt>Agt	p.G416S	SOX7_uc003wtf.3_Missense_Mutation_p.G364S	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	364					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		TCTGTGGGACCCGTTGGTGTC	0.612000														15			4		0	0	0.000602214	0	0
NOB1	28987	broad.mit.edu	37	16	69782979	69782979	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:69782979C>A	uc002exs.3	-	5	584	c.568G>T	c.(568-570)Gaa>Taa	p.E190*		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA.	190	Poly-Glu.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCGTTTTCTTCCTCCTCCTCC	0.517000														37			14		6.94344e-10	2.34259e-09	0.00074312	1	0
FCHO1	23149	broad.mit.edu	37	19	17889664	17889664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:17889664C>T	uc002nhg.3	+	19	1877	c.1598C>T	c.(1597-1599)cCc>cTc	p.P533L	FCHO1_uc010ebb.2_Missense_Mutation_p.P533L|FCHO1_uc002nhh.2_Missense_Mutation_p.P533L|FCHO1_uc010xpw.1_Missense_Mutation_p.P483L	NM_001161357	NP_001154829	O14526	FCHO1_HUMAN	Homo sapiens FCH domain only 1 (FCHO1), transcript variant 1, mRNA.	533	Pro-rich.									NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TCTCCAGGCCCCTGGGGGCTG	0.726000														10			5		0	0	0.00198382	0	0
JMJD7-PLA2G4B	8681	broad.mit.edu	37	15	42127241	42127241	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:42127241C>T	uc001zoo.4	+	2	332	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	JMJD7-PLA2G4B_uc001zom.2_5'UTR|JMJD7-PLA2G4B_uc001zon.2_Missense_Mutation_p.R98C|JMJD7-PLA2G4B_uc010bcn.3_Missense_Mutation_p.R98C|JMJD7-PLA2G4B_uc001zop.1_5'UTR|JMJD7-PLA2G4B_uc001zoq.4_5'Flank	NM_005090	NP_005081	P0C869	PA24B_HUMAN	Homo sapiens JMJD7-PLA2G4B readthrough (JMJD7-PLA2G4B), transcript variant 1, mRNA.	0					arachidonic acid metabolic process|calcium-mediated signaling|glycerophospholipid catabolic process|inflammatory response|parturition	cytosol|early endosome membrane|extracellular region|mitochondrial membrane	calcium ion binding|calcium-dependent phospholipase A2 activity|calcium-dependent phospholipid binding|lysophospholipase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(2)	25						GAGAGGGGATCGCTTCATGAT	0.632000														30			15		0	0	0.000422831	0	0
DMXL1	1657	broad.mit.edu	37	5	118485177	118485177	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:118485177T>G	uc010jcl.1	+	17	3836	c.3655T>G	c.(3655-3657)Tta>Gta	p.L1219V	DMXL1_uc003ksd.2_Missense_Mutation_p.L1219V|DMXL1_uc021ycw.1_Missense_Mutation_p.L1046V	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1219								p.S1218Y(1)|p.S1218C(1)		breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCCTGTTTCTTTATCGTGGGT	0.443000														35			28		0	0	0.00058488	0	0
CCDC144A	9720	broad.mit.edu	37	17	16593942	16593943	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:16593942_16593943CC>TT	uc002gqk.1	+	0	304_305	c.228_229CC>TT	c.(226-231)gtccgc>gtTTgc	p.R77C		NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	77																	AGCACGACGTCCGCCTGGAAGA	0.644000														37			22		0	0	6.4e-05	0	0
KEL	3792	broad.mit.edu	37	7	142650990	142650990	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142650990C>T	uc003wcb.3	-	8	1188	c.978G>A	c.(976-978)ccG>ccA	p.P326P		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	326					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)					TCAGGGACATCGGTGTGAATG	0.522000														16			51		0	0	0.000781405	0	0
DENND1A	57706	broad.mit.edu	37	9	126144643	126144643	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:126144643G>A	uc011lzm.1	-	20	2345	c.2131C>T	c.(2131-2133)Ccc>Tcc	p.P711S	DENND1A_uc011lzl.1_Missense_Mutation_p.P518S|DENND1A_uc004bny.1_Missense_Mutation_p.P482S|DENND1A_uc004bnz.1_Missense_Mutation_p.P700S|DENND1A_uc010mwh.1_Missense_Mutation_p.P121S	NM_020946	NP_065997	Q8TEH3	DEN1A_HUMAN	Homo sapiens DENN/MADD domain containing 1A (DENND1A), transcript variant 1, mRNA.	700	Pro-rich.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						TGGGGCCGGGGGATGGTGATG	0.692000														14			4		0	0	0.00116845	0	0
ZNF573	126231	broad.mit.edu	37	19	38230877	38230877	+	Missense_Mutation	SNP	G	A	A	rs149253687	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:38230877G>A	uc002ohe.3	-	4	583	c.514C>T	c.(514-516)Cgt>Tgt	p.R172C	ZNF573_uc010efs.2_Missense_Mutation_p.R85C|ZNF573_uc002ohd.3_Missense_Mutation_p.R170C|ZNF573_uc002ohf.3_Missense_Mutation_p.R114C|ZNF573_uc002ohg.3_Missense_Mutation_p.R84C|ZNF573_uc021utv.1_Missense_Mutation_p.R84C	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R114C(1)		NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			TAGCCACTACGAAAGTTCTTC	0.373000														81			18		0	0	0.00074312	0	0
RYR2	6262	broad.mit.edu	37	1	237872321	237872321	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:237872321C>T	uc001hyl.1	+	68	10185	c.10065C>T	c.(10063-10065)atC>atT	p.I3355I	RYR2_uc010pxz.1_Silent_p.I310I	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3355					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACTCCTCATCCTAGATGAGT	0.463000														23			6		0	0	0.00116845	0	0
HYDIN	54768	broad.mit.edu	37	16	70841530	70841530	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:70841530C>T	uc002ezr.3	-	85	15467	c.15316G>A	c.(15316-15318)Gag>Aag	p.E5106K	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	5107										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)				ACTCCAGTCTCACTCCCTTCA	0.478000														42			9		0	0	0.00136819	0	0
ZNF778	197320	broad.mit.edu	37	16	89293787	89293788	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:89293787_89293788CC>TT	uc021tms.1	+	6	1430_1431	c.1091_1092CC>TT	c.(1090-1092)ccc>cTT	p.P364L	ZNF778_uc010vpg.2_Missense_Mutation_p.P99L|ZNF778_uc002fmv.3_Missense_Mutation_p.P336L|ZNF778_uc002fmw.2_Missense_Mutation_p.P294L	NM_001201407	NP_001188336	Q96MU6	ZN778_HUMAN	Homo sapiens zinc finger protein 778 (ZNF778), transcript variant 1, mRNA.	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		GGACAGAAGCCCTATGAATGTA	0.475000														53			13		0	0	6.4e-05	0	0
EHHADH	1962	broad.mit.edu	37	3	184953239	184953239	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:184953239G>A	uc003fpf.3	-	2	266	c.190C>T	c.(190-192)Cgt>Tgt	p.R64C	EHHADH_uc011brs.2_5'UTR	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA.	64	Enoyl-CoA hydratase / isomerase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	CTGAAGCCACGAATATCAGCA	0.418000														19			8		0	0	0.000673444	0	0
DDHD2	23259	broad.mit.edu	37	8	38109456	38109456	+	Silent	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:38109456T>A	uc003xlc.3	+	11	1571	c.1371T>A	c.(1369-1371)ccT>ccA	p.P457P	DDHD2_uc003xlb.3_Silent_p.P457P|DDHD2_uc003xld.3_Silent_p.P76P	NM_001164232	NP_056029	O94830	DDHD2_HUMAN	Homo sapiens DDHD domain containing 2 (DDHD2), transcript variant 2, mRNA.	457					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			CCCCGCAGCCTGCTTCAGGGG	0.468000														60			8		0	0	0.000157383	0	0
CSMD1	64478	broad.mit.edu	37	8	3889615	3889615	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:3889615G>A	uc022aqr.1	-	3	812	c.422C>T	c.(421-423)cCt>cTt	p.P141L		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	141						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)		AGTGTGGCTAGGTAAAACTAT	0.383000														39			9		0	0	0.000673444	0	0
SELE	6401	broad.mit.edu	37	1	169696611	169696611	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:169696611C>T	uc001ggm.4	-	9	1681	c.1524G>A	c.(1522-1524)ggG>ggA	p.G508G	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	508	Sushi 6.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					ACACGGGCTCCCCACTGCAGC	0.522000														34			9		0	0	0.000673444	0	0
DNAH8	1769	broad.mit.edu	37	6	38813489	38813489	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:38813489G>A	uc021yzh.1	+	35	5094	c.4985G>A	c.(4984-4986)gGa>gAa	p.G1662E	DNAH8_uc003ooe.2_Missense_Mutation_p.G1445E	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.G1445E(1)		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						ACCGAATCGGGAGAAATTATC	0.393000														60			10		0	0	0.000673444	0	0
SELP	6403	broad.mit.edu	37	1	169565292	169565292	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:169565292G>A	uc001ggi.4	-	11	2037	c.1972C>T	c.(1972-1974)Cat>Tat	p.H658Y	SELP_uc001ggh.3_Missense_Mutation_p.H493Y|SELP_uc009wvr.3_Missense_Mutation_p.H658Y	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	658	Sushi 8.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GTTCCCGGATGATGCCTACAG	0.502000														70			13		0	0	0.00185496	0	0
L1CAM	3897	broad.mit.edu	37	X	153128946	153128946	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:153128946G>A	uc004fjb.3	-	25	3624	c.3516C>T	c.(3514-3516)acC>acT	p.T1172T	L1CAM_uc004fjc.3_Silent_p.T1172T|L1CAM_uc010nuo.3_Silent_p.T1167T	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	1172					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	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)					ACTCGCCGAAGGTCTCATCTT	0.617000														10			12		0	0	0.00244969	0	0
EYA1	2138	broad.mit.edu	37	8	72246358	72246358	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:72246358C>T	uc003xyu.3	-	3	816	c.176G>A	c.(175-177)gGg>gAg	p.G59E	EYA1_uc003xyt.4_Missense_Mutation_p.G26E|EYA1_uc003xyr.4_Missense_Mutation_p.G59E|EYA1_uc010lzf.3_5'UTR|EYA1_uc003xys.4_Missense_Mutation_p.G59E|EYA1_uc011lfe.2_Missense_Mutation_p.G59E|EYA1_uc003xyv.3_5'UTR	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	59					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	p.G59R(1)		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)			GTTTAAAGACCCGTCGGCTGT	0.333000														59			17		0	0	0.00121646	0	0
KIAA1024	23251	broad.mit.edu	37	15	79749389	79749389	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:79749389C>T	uc002bew.1	+	1	975	c.900C>T	c.(898-900)ttC>ttT	p.F300F	KIAA1024_uc010unk.1_Silent_p.F300F	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	300						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CACCCTTCTTCAACCACAGCT	0.522000														77			19		0	0	0.00229938	0	0
EMR3	84658	broad.mit.edu	37	19	14749089	14749089	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:14749089G>A	uc002mzi.4	-	10	1460	c.1312C>T	c.(1312-1314)Ctg>Ttg	p.L438L	EMR3_uc010dzp.3_Silent_p.L386L|EMR3_uc010xnv.2_Silent_p.L312L	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	438					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						CCCTCCAGCAGCATCCAGGTG	0.557000														20			5		0	0	0.000602214	0	0
DNAH3	55567	broad.mit.edu	37	16	20975073	20975073	+	Missense_Mutation	SNP	G	A	A	rs150659278		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:20975073G>A	uc010vbe.2	-	52	10133	c.10133C>T	c.(10132-10134)aCc>aTc	p.T3378I	DNAH3_uc010vbd.2_Missense_Mutation_p.T813I	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3378					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)		GATGCCGATGGTCAGGAGGAG	0.493000														50			17		0	0	0.00074312	0	0
PTPRF	5792	broad.mit.edu	37	1	44084800	44084800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:44084800C>T	uc001cjr.3	+	26	4913	c.4573C>T	c.(4573-4575)Ccc>Tcc	p.P1525S	PTPRF_uc001cjs.3_Missense_Mutation_p.P1516S|PTPRF_uc001cju.3_Missense_Mutation_p.P914S|PTPRF_uc009vwt.3_Missense_Mutation_p.P1085S|PTPRF_uc001cjv.3_Missense_Mutation_p.P996S|PTPRF_uc001cjw.3_Missense_Mutation_p.P751S	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1525	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTACCCAACTCCCATCCTGGC	0.617000														10			4		0	0	0.00024832	0	0
FASTKD2	22868	broad.mit.edu	37	2	207636625	207636626	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:207636625_207636626CC>TT	uc002vbu.3	+	4	1408_1409	c.998_999CC>TT	c.(997-999)gcc>gTT	p.A333V	FASTKD2_uc002vbv.3_Missense_Mutation_p.A333V|FASTKD2_uc002vbx.3_Missense_Mutation_p.A333V|FASTKD2_uc002vbw.1_Missense_Mutation_p.A333V	NM_001136193	NP_055744	Q9NYY8	FAKD2_HUMAN	Homo sapiens FAST kinase domains 2 (FASTKD2), transcript variant 2, mRNA.	333					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TAGATGAAAGCCTTGAGGGAAT	0.327000														67			15		0	0	6.4e-05	0	0
ADH4	127	broad.mit.edu	37	4	100057780	100057780	+	Missense_Mutation	SNP	C	T	T	rs139053416		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:100057780C>T	uc003hun.3	-	4	495	c.419G>A	c.(418-420)gGa>gAa	p.G140E	LOC100507053_uc003hum.2_Intron|ADH4_uc011ced.2_Missense_Mutation_p.G159E	NM_000670	NP_000661	P08319	ADH4_HUMAN	Homo sapiens alcohol dehydrogenase 4 (class II), pi polypeptide (ADH4), mRNA.	140					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	NAD binding|NADPH:quinone reductase activity|alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding	p.G140E(2)		NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	AACTGGTTTTCCTTTGCAGGT	0.348000														28			17		0	0	0.000958276	0	0
OR13C8	138802	broad.mit.edu	37	9	107331529	107331529	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:107331529C>T	uc011lvo.2	+	0	81	c.81C>T	c.(79-81)ttC>ttT	p.F27F		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V26A(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AGACAGTTTTCTTCGTTCTAA	0.433000														62			17		0	0	0.000566183	0	0
MIR518A1	574488	broad.mit.edu	37	19	54234313	54234313	+	RNA	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:54234313A>T	uc021van.1	+	0		c.54A>T								Homo sapiens microRNA 518a-1 (MIR518A1), microRNA.																		AAGAAGAGAAAGCGCTTCCCT	0.453000														64			12		0	0	0.000978159	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103515342	103515342	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:103515342C>T	uc001vpu.2	+	15	3327	c.3205C>T	c.(3205-3207)Ctg>Ttg	p.L1069L	BIVM-ERCC5_uc010tjb.2_Silent_p.L615L|BIVM-ERCC5_uc001vpw.3_Silent_p.L615L|BIVM-ERCC5_uc010tjc.1_Intron|BIVM-ERCC5_uc010tjd.1_Silent_p.L447L	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	1040					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										TGAGAATTTTCTGGAAACCAT	0.418000														29			11		0	0	0.00136819	0	0
AOC3	8639	broad.mit.edu	37	17	41004938	41004938	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:41004938C>T	uc002ibv.3	+	0	1738	c.1578C>T	c.(1576-1578)ttC>ttT	p.F526F		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	526					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	p.H525Y(1)		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)	GCGCCCACTTCAAGGTGGATC	0.517000														22			21		0	0	0.00278032	0	0
TMC5	79838	broad.mit.edu	37	16	19477445	19477445	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:19477445C>T	uc002dgc.4	+	8	2276	c.1527C>T	c.(1525-1527)acC>acT	p.T509T	TMC5_uc010vaq.2_Silent_p.T509T|TMC5_uc002dgb.4_Silent_p.T509T|TMC5_uc010var.2_Silent_p.T509T|TMC5_uc002dgd.1_Silent_p.T263T|TMC5_uc002dge.4_Silent_p.T263T|TMC5_uc002dgf.4_Silent_p.T192T|TMC5_uc002dgg.4_Silent_p.T150T	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	509						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCTTTTACACCAATTCCACCA	0.458000														21			4		0	0	0.00024832	0	0
EPC1	80314	broad.mit.edu	37	10	32580220	32580220	+	Silent	SNP	G	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:32580220G>T	uc001iwg.1	-	5	1116	c.846C>A	c.(844-846)atC>atA	p.I282I	EPC1_uc001iwi.3_Silent_p.I232I|EPC1_uc009xlt.2_Silent_p.I232I|EPC1_uc001iwh.1_Silent_p.I282I	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	Homo sapiens enhancer of polycomb homolog 1 (Drosophila) (EPC1), mRNA.	282					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex|nuclear membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				CCTCAGACATGATCTCTCCAT	0.333000														93			17		2.94398e-08	9.91772e-08	0.000958276	1	0
ACTL9	284382	broad.mit.edu	37	19	8807960	8807960	+	Silent	SNP	G	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:8807960G>C	uc002mkl.2	-	0	1213	c.1092C>G	c.(1090-1092)gcC>gcG	p.A364A		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	364						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CGTGGGTCTCGGCTGGCAGAG	0.677000														27			5		0	0	0.000602214	0	0
ARMC4	55130	broad.mit.edu	37	10	28101452	28101452	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:28101452T>C	uc009xky.3	-	19	3222	c.3124A>G	c.(3124-3126)Aga>Gga	p.R1042G	ARMC4_uc010qds.2_Silent_p.Q607Q|ARMC4_uc010qdt.2_Missense_Mutation_p.R734G|ARMC4_uc001itz.3_Missense_Mutation_p.R1042G	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	1042							binding	p.A1041S(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CAAGTGTATCTTGCCTTCTCT	0.453000														57			12		0	0	0.00185496	0	0
ITGAE	3682	broad.mit.edu	37	17	3651330	3651330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:3651330G>A	uc002fwo.4	-	16	2140	c.2041C>T	c.(2041-2043)Cgc>Tgc	p.R681C		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	681					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACCTTCAGGCGAACCACAGGC	0.547000														31			8		0	0	0.000442599	0	0
NTN4	59277	broad.mit.edu	37	12	96052866	96052866	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:96052866T>C	uc001tei.3	-	9	2332	c.1883A>G	c.(1882-1884)aAg>aGg	p.K628R	NTN4_uc009ztf.3_Missense_Mutation_p.K605R|NTN4_uc009ztg.3_Missense_Mutation_p.K591R	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	628					axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TTAATGCTACTTGCACTCTCT	0.353000														87			17		0	0	0.00121646	0	0
ATG2A	23130	broad.mit.edu	37	11	64678105	64678105	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:64678105G>A	uc001obx.3	-	11	1805	c.1690C>T	c.(1690-1692)Ctg>Ttg	p.L564L		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	564							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						ACACGGCGCAGGATCTGTGTG	0.682000														5			3		0	0	6.4e-05	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799820	159799820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:159799820G>A	uc001fue.4	+	1	415	c.205G>A	c.(205-207)Gag>Aag	p.E69K		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	69						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					AGGCTCCCTGGAGACTCTGTA	0.632000														62			30		0	0	0.0024448	0	0
PLCXD3	345557	broad.mit.edu	37	5	41382367	41382367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:41382367G>A	uc003jmm.1	-	1	475	c.373C>T	c.(373-375)Ctt>Ttt	p.L125F		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	125	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ATCTCCTCAAGGCCTTCATTG	0.413000														21			16		0	0	0.00074312	0	0
SEC24D	9871	broad.mit.edu	37	4	119654012	119654012	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:119654012T>G	uc003ici.4	-	19	2824	c.2552A>C	c.(2551-2553)aAa>aCa	p.K851T	SEC24D_uc003ich.4_Non-coding_Transcript|SEC24D_uc003icj.4_Missense_Mutation_p.K852T|SEC24D_uc003ick.2_Missense_Mutation_p.K13T	NM_014822	NP_055637	O94855	SC24D_HUMAN	Homo sapiens SEC24 family, member D (S. cerevisiae) (SEC24D), mRNA.	851					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						TACACAGTTTTTCAACAAGCA	0.413000														59			13		0	0	0.000422831	0	0
CCDC67	159989	broad.mit.edu	37	11	93088705	93088705	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:93088705A>T	uc001pdq.3	+	2	298	c.198A>T	c.(196-198)caA>caT	p.Q66H	CCDC67_uc001pdo.1_Missense_Mutation_p.Q66H|CCDC67_uc001pdp.3_Missense_Mutation_p.Q66H	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	66										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				AGAAAGGTCAAGAGGTACTGA	0.338000														34			7		0	0	0.00198382	0	0
PRB4	5545	broad.mit.edu	37	12	11461537	11461537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:11461537C>T	uc001qzf.1	-	2	414	c.380G>A	c.(379-381)gGa>gAa	p.G127E	PRB4_uc001qzt.3_Missense_Mutation_p.G127E	NM_002723	NP_002714	P10163	PRB4_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 4 (PRB4), mRNA.	190	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele M and allele S).			extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						CTGGTTGCCTCCTTGTGGGGG	0.602000										HNSCC(22;0.051)				46			20		0	0	0.00229938	0	0
OR2M2	391194	broad.mit.edu	37	1	248343831	248343831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248343831C>T	uc010pzf.2	+	0	544	c.544C>T	c.(544-546)Cct>Tct	p.P182S		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGTGAATTCCCTTCCCTACT	0.418000														101			18		0	0	0.00152264	0	0
MCOLN2	255231	broad.mit.edu	37	1	85418002	85418002	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:85418002G>A	uc001dkm.3	-	5	912	c.671C>T	c.(670-672)tCc>tTc	p.S224F	MCOLN2_uc001dkn.3_Non-coding_Transcript	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	224						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		AAGATGAAAGGAGATTTCAAC	0.353000														25			25		0	0	0.000878237	0	0
MAGEC2	51438	broad.mit.edu	37	X	141291335	141291335	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:141291335C>T	uc022cfj.1	-	0	439	c.439G>A	c.(439-441)Gag>Aag	p.E147K	MAGEC2_uc004fbu.2_Missense_Mutation_p.E147K	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	147	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					TCCACTAACTCGGCCACCTTT	0.493000										HNSCC(46;0.14)				68			32		0	0	0.00058488	0	0
THRB	7068	broad.mit.edu	37	3	24169139	24169139	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:24169139C>T	uc003ccz.4	-	10	1515	c.995G>A	c.(994-996)gGg>gAg	p.G332E	THRB_uc010hfe.3_Missense_Mutation_p.G332E|THRB_uc003ccy.4_Missense_Mutation_p.G332E|THRB_uc003ccx.4_Missense_Mutation_p.G332E	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	332	Interaction with NR2F6.|Ligand-binding.		G -> R (in GTHR; dbSNP:rs28999969).		regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGCCATTTCCCCATTCAAGGT	0.532000														41			5		0	0	0.000602214	0	0
TAF1A	9015	broad.mit.edu	37	1	222753173	222753174	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:222753173_222753174GG>TT	uc009xdz.2	-	3	541_542	c.332_333CC>AA	c.(331-333)ccc>cAA	p.P111Q	TAF1A_uc001hni.2_5'UTR|TAF1A_uc001hnj.3_Missense_Mutation_p.P111Q|TAF1A_uc010pur.2_Missense_Mutation_p.P111Q	NM_001201536	NP_001188465	Q15573	TAF1A_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA.	111					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TGTTGCTTTTGGGATGATAAAA	0.327000														503			21		0	0	6.4e-05	0	0
DCC	1630	broad.mit.edu	37	18	50936960	50936960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:50936960G>A	uc002lfe.2	+	19	3690	c.3074G>A	c.(3073-3075)cGa>cAa	p.R1025Q	DCC_uc010xdr.1_Missense_Mutation_p.R853Q|DCC_uc010dpf.2_Missense_Mutation_p.R660Q	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1025	Fibronectin type-III 6.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.R1025G(1)|p.R1025*(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATTCAAGCACGAAATTCAAAA	0.383000														40			8		0	0	0.000978159	0	0
MKI67	4288	broad.mit.edu	37	10	129902337	129902337	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:129902337G>A	uc001lke.3	-	12	7962	c.7767C>T	c.(7765-7767)ccC>ccT	p.P2589P	MKI67_uc001lkf.3_Silent_p.P2229P|MKI67_uc009yav.1_Silent_p.P2164P|MKI67_uc009yaw.1_Silent_p.P1739P	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2589	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTTCTGGTGGGGGAGATTTGC	0.473000														47			29		0	0	0.0024448	0	0
ZFHX4	79776	broad.mit.edu	37	8	77776234	77776234	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:77776234C>T	uc003yau.2	+	10	10671	c.10284C>T	c.(10282-10284)ttC>ttT	p.F3428F		NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3379						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F3412F(1)		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)			TCTGTTATTTCGGTCAGCCTT	0.438000										HNSCC(33;0.089)				21			5		0	0	0.00116845	0	0
ERV3-1	2086	broad.mit.edu	37	7	64453074	64453074	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:64453074G>A	uc011kdr.2	-	1	925	c.331C>T	c.(331-333)Ccc>Tcc	p.P111S	ZNF117_uc003ttr.2_5'Flank|ERV3-1_uc022afc.1_Missense_Mutation_p.P111S	NM_001007253	NP_001007254	Q14264	ENR1_HUMAN	Homo sapiens endogenous retrovirus group 3, member 1 (ERV3-1), mRNA.	111						virion				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)	16						ttgccagagggaaataccttg	0.443000														24			7		0	0	0.000274275	0	0
LIPH	200879	broad.mit.edu	37	3	185241875	185241876	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:185241875_185241876GG>TT	uc003fpm.3	-	4	811_812	c.701_702CC>AA	c.(700-702)ccc>cAA	p.P234Q	LIPH_uc010hyh.3_Missense_Mutation_p.P200Q	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	234					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			ATATTGTTTTGGGGCAGCCAGG	0.421000														317			11		0	0	6.4e-05	0	0
OTOL1	131149	broad.mit.edu	37	3	161221434	161221434	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:161221434T>C	uc011bpb.2	+	3	1138	c.1138T>C	c.(1138-1140)Ttt>Ctt	p.F380L		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	380	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						CACTGGGAAGTTTAACTGCTC	0.448000														7			3		0	0	0.000602214	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51914431	51914431	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:51914431G>A	uc002pwo.3	-	10	2238	c.2016C>T	c.(2014-2016)ttC>ttT	p.F672F	SIGLEC10_uc002pwp.3_Silent_p.F614F|SIGLEC10_uc021uyl.1_Silent_p.F494F|SIGLEC10_uc002pwq.3_Silent_p.F519F|SIGLEC10_uc010ycz.2_Silent_p.F529F|SIGLEC10_uc002pws.2_Silent_p.F429F|SIGLEC10_uc002pwr.3_Silent_p.F577F|SIGLEC10_uc010ycy.2_Silent_p.F487F|SIGLEC10_uc010eow.3_Silent_p.F389F	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	672					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TGACGCCTGGGAAGTTGAGCG	0.557000														63			15		0	0	0.00244969	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139815696	139815696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:139815696C>T	uc003lfs.2	+	1	468	c.314C>T	c.(313-315)tCa>tTa	p.S105L	ANKHD1-EIF4EBP3_uc003lfq.2_Missense_Mutation_p.S105L|ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.S105L|ANKHD1-EIF4EBP3_uc003lfo.3_Missense_Mutation_p.S105L|ANKHD1-EIF4EBP3_uc003lfp.3_Missense_Mutation_p.S105L|ANKHD1-EIF4EBP3_uc010jfk.3_Missense_Mutation_p.S105L	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	105						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)			CAGGTTGAATCATTTATTTTG	0.318000														20			8		0	0	0.000274275	0	0
DNAH7	56171	broad.mit.edu	37	2	196720612	196720612	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:196720612C>T	uc002utj.4	-	44	8619	c.8518G>A	c.(8518-8520)Gaa>Aaa	p.E2840K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2840	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCCTGAACTTCCTTAAGGGCT	0.433000														176			26		0	0	0.001512	0	0
LIN7A	8825	broad.mit.edu	37	12	81283035	81283035	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:81283035G>A	uc001szj.1	-	1	389	c.196C>T	c.(196-198)Cga>Tga	p.R66*	LIN7A_uc001szk.1_Non-coding_Transcript	NM_004664	NP_004655	O14910	LIN7A_HUMAN	Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA.	66	L27.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						CATACCTCTCGAATAGCTGTA	0.343000														25			14		0	0	0.00244969	0	0
EIF4E3	317649	broad.mit.edu	37	3	71743062	71743062	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:71743062T>C	uc003dov.4	-	4	444	c.436A>G	c.(436-438)Acc>Gcc	p.T146A	EIF4E3_uc011bgc.2_Missense_Mutation_p.T40A|EIF4E3_uc003dox.3_Missense_Mutation_p.T40A|EIF4E3_uc011bgd.2_Missense_Mutation_p.T40A|EIF4E3_uc010hoc.3_Missense_Mutation_p.T40A	NM_001134651	NP_775495	Q8N5X7	IF4E3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E family member 3 (EIF4E3), transcript variant 1, mRNA.	146					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			large_intestine(1)|lung(3)	4		Prostate(10;0.0166)		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)		TCCCCGATGGTTGCTAACAGC	0.473000														12			4		0	0	0.000602214	0	0
MOCS3	27304	broad.mit.edu	37	20	49575512	49575512	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:49575512C>T	uc002xvy.1	+	0	150	c.133C>T	c.(133-135)Ccg>Tcg	p.P45S	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.	45					Mo-molybdopterin cofactor biosynthetic process|enzyme active site formation via L-cysteine persulfide|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|URM1 activating enzyme activity|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity	p.P45T(2)|p.V44G(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						ACGGCTGGTTCCGGTGTCGCC	0.622000														36			13		0	0	0.000422831	0	0
CELSR3	1951	broad.mit.edu	37	3	48699263	48699263	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:48699263G>T	uc003cuf.1	-	2	1015	c.1015C>A	c.(1015-1017)Ccc>Acc	p.P339T	CELSR3_uc003cul.3_Missense_Mutation_p.P269T	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	269	Cadherin 1.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCCGGCTCGGGAGCTGTCCGA	0.741000														22			9		0.000673444	0.00225475	0.000673444	1	0
KSR2	283455	broad.mit.edu	37	12	117962929	117962930	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:117962929_117962930GG>AA	uc001two.2	-	13	1914_1915	c.1859_1860CC>TT	c.(1858-1860)gcc>gTT	p.A620V		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	649					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.A620A(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGTCTGGCTGGCCTTGCGTGG	0.584000														38			7		0	0	6.4e-05	0	0
OR2L8	391190	broad.mit.edu	37	1	248112406	248112406	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248112406G>A	uc001idt.1	+	0	247	c.247G>A	c.(247-249)Gat>Aat	p.D83N	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GATGGCATCTGATTTTCTGCA	0.453000														102			27		0	0	0.00106085	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161021199	161021199	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:161021199C>T	uc001fxl.3	-	9	1671	c.1325G>A	c.(1324-1326)aGg>aAg	p.R442K	ARHGAP30_uc001fxk.3_Missense_Mutation_p.R442K|ARHGAP30_uc001fxm.3_Missense_Mutation_p.R288K|ARHGAP30_uc009wtx.3_Missense_Mutation_p.R115K|ARHGAP30_uc001fxn.1_Missense_Mutation_p.R288K	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	442					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ACGGGTGAGCCTGGCCAAGGA	0.632000														24			15		0	0	0.00152264	0	0
IL15RA	3601	broad.mit.edu	37	10	5995107	5995107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:5995107C>T	uc021pmo.1	-	7	1027	c.1013G>A	c.(1012-1014)gGg>gAg	p.G338E	IL15RA_uc010qau.2_Missense_Mutation_p.G219E|IL15RA_uc021pmp.1_Missense_Mutation_p.G189E|IL15RA_uc001iiv.3_Missense_Mutation_p.G252E|IL15RA_uc001iiw.3_Missense_Mutation_p.G216E|IL15RA_uc001iiy.3_Missense_Mutation_p.G100E	NM_001243539	NP_001230468	Q13261	I15RA_HUMAN	Homo sapiens interleukin 15 receptor, alpha (IL15RA), transcript variant 3, mRNA.	252					cell proliferation	Golgi membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						GCTGCTGGTCCCCCAAGTCAC	0.552000														42			16		0	0	0.00188189	0	0
OGDHL	55753	broad.mit.edu	37	10	50964886	50964886	+	Missense_Mutation	SNP	C	T	T	rs145127820	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:50964886C>T	uc009xog.3	-	1	426	c.392G>A	c.(391-393)cGg>cAg	p.R131Q	OGDHL_uc001jie.3_Missense_Mutation_p.R104Q|OGDHL_uc010qgt.2_Intron|OGDHL_uc010qgu.2_Intron|OGDHL_uc009xoh.2_5'UTR	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	104					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGTCTTGGTCCGACTTGAGAC	0.612000														21			5		0	0	0.00198382	0	0
OSM	5008	broad.mit.edu	37	22	30659991	30659991	+	Missense_Mutation	SNP	C	T	T	rs150499755		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:30659991C>T	uc003ahb.3	-	2	681	c.640G>A	c.(640-642)Gag>Aag	p.E214K		NM_020530	NP_065391	P13725	ONCM_HUMAN	Homo sapiens oncostatin M (OSM), mRNA.	214					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			TTCGGGCTCTCCCCCCACTTG	0.637000														21			7		0	0	0.000157383	0	0
TTN	7273	broad.mit.edu	37	2	179411776	179411777	+	Missense_Mutation	DNP	GC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179411776_179411777GC>TT	uc021vsy.1	-	288	86996_86997	c.86771_86772GC>AA	c.(86770-86772)agc>aAA	p.S28924K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S22619K|TTN_uc021vta.1_Missense_Mutation_p.S22552K|TTN_uc021vtb.1_Missense_Mutation_p.S22427K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29851	Ig-like 133.						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)			CGCTGGCCTTGCTAACACCTGC	0.381000														94			45		0	0	6.4e-05	0	0
GPR111	222611	broad.mit.edu	37	6	47647918	47647918	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:47647918T>C	uc010jzj.1	+	4	584	c.583T>C	c.(583-585)Tct>Cct	p.S195P	GPR111_uc003oyy.3_Missense_Mutation_p.S127P	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	195					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CACAGATCTGTCTTGTGTAAT	0.383000														89			10		0	0	0.000978159	0	0
ANGPT4	51378	broad.mit.edu	37	20	858955	858955	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:858955C>T	uc002wei.3	-	6	1172	c.1069G>A	c.(1069-1071)Gct>Act	p.A357T	ANGPT4_uc010zpn.2_Missense_Mutation_p.A351T	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	357	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TGCTCCCCAGCTGGGTCTCCG	0.647000														17			4		0	0	0.00024832	0	0
OR5H15	403274	broad.mit.edu	37	3	97887620	97887620	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:97887620C>T	uc011bgu.2	+	0	77	c.77C>T	c.(76-78)cCc>cTc	p.P26L		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TGGAAAATACCCCTGTTCTTG	0.418000														64			13		0	0	0.00244969	0	0
HEATR1	55127	broad.mit.edu	37	1	236721799	236721799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:236721799G>A	uc001hyd.2	-	35	5094	c.4942C>T	c.(4942-4944)Ctt>Ttt	p.L1648F	HEATR1_uc009xgh.2_Missense_Mutation_p.L810F	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1648					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)			ATGGCCAAAAGGTCTGGAACC	0.408000														37			16		0	0	0.000566183	0	0
HBD	3045	broad.mit.edu	37	11	5255355	5255355	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5255355C>T	uc001maf.1	-	1	376	c.181G>A	c.(181-183)Gtg>Atg	p.V61M		NM_000519	NP_000510	P02042	HBD_HUMAN	Homo sapiens hemoglobin, delta (HBD), mRNA.	61					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)		TGAGCCTTCACCTTAGGGTTG	0.532000														43			12		0	0	0.00244969	0	0
KLK4	9622	broad.mit.edu	37	19	51412047	51412047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:51412047G>A	uc002pua.1	-	2	263	c.263C>T	c.(262-264)gCc>gTc	p.A88V	KLK4_uc002pty.1_Missense_Mutation_p.A39V|KLK4_uc002ptz.1_Non-coding_Transcript|KLK4_uc002pub.1_5'UTR|KLK4_uc002puc.1_Non-coding_Transcript|KLK4_uc010eoi.1_5'UTR|KLK4_uc002pud.1_5'UTR	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	Homo sapiens kallikrein-related peptidase 4 (KLK4), mRNA.	88	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CTCTTGGTCGGCCTCAAGACT	0.587000														22			13		0	0	0.000308642	0	0
PROL1	58503	broad.mit.edu	37	4	71275639	71275639	+	Silent	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:71275639A>C	uc003hfi.3	+	2	768	c.594A>C	c.(592-594)gcA>gcC	p.A198A		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	198	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	p.P197S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				CAACCCCCGCAGCATCTACTG	0.473000														55			12		0	0	0.00136819	0	0
CSTF1	1477	broad.mit.edu	37	20	54974341	54974341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:54974341C>T	uc002xxl.1	+	4	1164	c.964C>T	c.(964-966)Ctc>Ttc	p.L322F	CSTF1_uc002xxm.1_Missense_Mutation_p.L322F|CSTF1_uc002xxn.1_Missense_Mutation_p.L322F	NM_001033521	NP_001315	Q05048	CSTF1_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa (CSTF1), transcript variant 1, mRNA.	322					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|protein binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TAAATACATTCTCTCAAGTGG	0.393000														94			6		0	0	0.00116845	0	0
PCDH18	54510	broad.mit.edu	37	4	138451229	138451229	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:138451229G>A	uc003ihe.4	-	0	2401	c.2014C>T	c.(2014-2016)Ctg>Ttg	p.L672L	PCDH18_uc003ihf.4_Silent_p.L665L|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.L452L|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	672	Cadherin 6.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATGCACTTCAGAAGGACTTTG	0.428000														57			19		0	0	0.00188189	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417206	150417206	+	Silent	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:150417206C>G	uc003whq.3	+	2	254	c.114C>G	c.(112-114)gcC>gcG	p.A38A	GIMAP1-GIMAP5_uc022apw.1_Silent_p.A38A	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		GAACAGGGGCCGGGAAGAGCG	0.602000														127			25		0	0	0.000586117	0	0
RALBP1	10928	broad.mit.edu	37	18	9533713	9533713	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:9533713C>T	uc002kob.3	+	8	1813	c.1590C>T	c.(1588-1590)caC>caT	p.H530H	RALBP1_uc002koc.3_Silent_p.H530H	NM_006788	NP_006779	Q15311	RBP1_HUMAN	Homo sapiens ralA binding protein 1 (RALBP1), mRNA.	530					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding	p.H530H(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						GCCAGCAGCACGGCCGAAGTG	0.512000														36			30		0	0	0.00209593	0	0
GRB14	2888	broad.mit.edu	37	2	165365284	165365284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:165365284C>T	uc002ucl.3	-	6	1436	c.895G>A	c.(895-897)Gga>Aga	p.G299R	GRB14_uc010zcv.2_Missense_Mutation_p.G212R	NM_004490	NP_004481	Q14449	GRB14_HUMAN	Homo sapiens growth factor receptor-bound protein 14 (GRB14), mRNA.	299	PH.				blood coagulation|leukocyte migration	Golgi membrane|cytosol|endosome membrane|microsome|plasma membrane	SH3/SH2 adaptor activity			breast(3)|endometrium(2)|large_intestine(6)|lung(10)|ovary(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32						GTCGGTGCTCCATGTTTTTTT	0.373000														49			22		0	0	0.000586117	0	0
SGSM1	129049	broad.mit.edu	37	22	25294236	25294236	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:25294236G>A	uc003abg.2	+	19	2642	c.2485G>A	c.(2485-2487)Gag>Aag	p.E829K	SGSM1_uc010guu.1_Missense_Mutation_p.E774K|SGSM1_uc003abh.2_Missense_Mutation_p.E768K|SGSM1_uc003abj.2_Missense_Mutation_p.E713K|SGSM1_uc003abi.1_Missense_Mutation_p.E749K	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	829	Rab-GAP TBC.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGCTCCCCGGGAGGAGCTGGC	0.662000														14			5		0	0	0.000602214	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090516	238090516	+	RNA	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:238090516C>T	uc010pyc.2	+	11		c.2022C>T								Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA.																		CCTTCAACTCCCCGGCCATGT	0.602000														20			4		0	0	0.000602214	0	0
FSD2	123722	broad.mit.edu	37	15	83447561	83447561	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:83447561G>A	uc002bjd.2	-	5	1235	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	FSD2_uc010uol.1_Silent_p.F356F|FSD2_uc010uom.1_Silent_p.F356F	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	356										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						CCACATCAGAGAAATCCAAGG	0.468000														9			12		0	0	0.000978159	0	0
SLC9A2	6549	broad.mit.edu	37	2	103318920	103318920	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:103318920C>T	uc002tca.3	+	8	1946	c.1804C>T	c.(1804-1806)Cga>Tga	p.R602*		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	602						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.R602G(2)		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						TGATGAAATTCGAGAACTCTT	0.328000														105			30		0	0	0.000953801	0	0
INPP5D	3635	broad.mit.edu	37	2	234079751	234079751	+	Silent	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:234079751A>C	uc010zmo.2	+	15	2008	c.1855A>C	c.(1855-1857)Aga>Cga	p.R619R	INPP5D_uc010zmp.2_Silent_p.R618R	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	648					T cell receptor signaling pathway|apoptosis|blood coagulation|leukocyte migration	cytosol	SH3 domain binding|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCGTTTTGAGAGACTGACTCG	0.507000														12			7		0	0	0.000673444	0	0
NOL6	65083	broad.mit.edu	37	9	33465871	33465871	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:33465871C>G	uc003zsz.3	-	18	2490	c.2389G>C	c.(2389-2391)Gtg>Ctg	p.V797L	NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Intron|NOL6_uc010mjv.3_Missense_Mutation_p.V794L|NOL6_uc011lob.2_Missense_Mutation_p.V745L|NOL6_uc003ztb.1_Missense_Mutation_p.V797L	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	797					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TGATAGGCCACGCGAATCCGA	0.577000														14			8		0	0	0.000673444	0	0
C6orf170	221322	broad.mit.edu	37	6	121613284	121613284	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:121613284G>A	uc003pyo.1	-	11	1355	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc003pyp.1_5'UTR	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	429					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		GTGAGTGAATGAAATAAATAT	0.279000														53			13		0	0	0.00244969	0	0
CXorf36	79742	broad.mit.edu	37	X	45011044	45011044	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:45011044G>A	uc004dgg.2	-	4	1230	c.1155C>T	c.(1153-1155)atC>atT	p.I385I		NM_176819	NP_789789	Q9H7Y0	CX036_HUMAN	Homo sapiens chromosome X open reading frame 36 (CXorf36), transcript variant 1, mRNA.	385						extracellular region				endometrium(1)|large_intestine(2)|lung(4)	7						ACTGAACAAGGATGGAGTCTA	0.587000														22			5		0	0	0.000602214	0	0
CRX	1406	broad.mit.edu	37	19	48343113	48343113	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:48343113C>T	uc002phq.4	+	3	993	c.789C>T	c.(787-789)ccC>ccT	p.P263P		NM_000554	NP_000545	O43186	CRX_HUMAN	Homo sapiens cone-rod homeobox (CRX), mRNA.	263					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P263P(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCTACAGCCCCGTGGATAGCT	0.617000														50			10		0	0	0.000673444	0	0
DNAH2	146754	broad.mit.edu	37	17	7727910	7727910	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7727910G>A	uc002giu.1	+	75	11732	c.11718G>A	c.(11716-11718)ctG>ctA	p.L3906L	DNAH2_uc010cnm.1_Silent_p.L844L	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3906	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGCCTAATCTGGACAAGCTGG	0.562000														37			10		0	0	0.00244969	0	0
SEL1L2	80343	broad.mit.edu	37	20	13894461	13894461	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:13894461G>A	uc010gcf.3	-	4	598	c.516C>T	c.(514-516)tcC>tcT	p.S172S	SEL1L2_uc002woq.4_Silent_p.S33S|SEL1L2_uc010zrl.2_Silent_p.S172S|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	172						integral to membrane	binding	p.S172S(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CTTTAGCCAAGGACTCATATA	0.373000														33			19		0	0	0.00278032	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54676173	54676173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:54676173G>A	uc003dhf.3	+	10	1120	c.1072G>A	c.(1072-1074)Gga>Aga	p.G358R	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.G264R|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.G92R|ESRG_uc003dhj.3_5'Flank	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	358	VWFA.					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)		CACGGGACAAGGAAGTATCTG	0.413000														16			6		0	0	0.00116845	0	0
KLKB1	3818	broad.mit.edu	37	4	187173201	187173201	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:187173201T>C	uc003iyy.3	+	10	1246	c.1175T>C	c.(1174-1176)gTt>gCt	p.V392A	KLKB1_uc011clc.2_Missense_Mutation_p.V190A|KLKB1_uc011cld.2_Missense_Mutation_p.V354A	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	392	Peptidase S1.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ACACGCATTGTTGGAGGAACA	0.498000														49			11		0	0	0.00185496	0	0
AASS	10157	broad.mit.edu	37	7	121719731	121719731	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:121719731G>A	uc003vka.3	-	19	2412	c.2316C>T	c.(2314-2316)ccC>ccT	p.P772P	AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Silent_p.P772P|AASS_uc011knw.2_Silent_p.P260P|U7_uc022ako.1_5'Flank	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	772	Saccharopine dehydrogenase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	GCTCAGAGGAGGGTGAAATCC	0.403000														48			12		0	0	0.00136819	0	0
PRDM10	56980	broad.mit.edu	37	11	129794919	129794919	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:129794919G>A	uc001qfm.3	-	12	1980	c.1748C>T	c.(1747-1749)tCa>tTa	p.S583L	PRDM10_uc001qfj.3_Missense_Mutation_p.S497L|PRDM10_uc001qfk.3_Missense_Mutation_p.S493L|PRDM10_uc001qfl.3_Missense_Mutation_p.S497L|PRDM10_uc010sbx.2_Missense_Mutation_p.S493L|PRDM10_uc001qfn.3_Missense_Mutation_p.S579L	NM_020228	NP_064613	Q9NQV6	PRD10_HUMAN	Homo sapiens PR domain containing 10 (PRDM10), transcript variant 1, mRNA.	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CTTCTGGTCTGAGTGGAGCTT	0.493000														104			28		0	0	0.000692331	0	0
LAMP5	24141	broad.mit.edu	37	20	9510290	9510290	+	Splice_Site	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:9510290G>A	uc002wni.2	+	6	1160	c.665_splice	c.e6-1	p.E222_splice	LAMP5_uc010zrc.2_Splice_Site_p.E178_splice	NM_012261	NP_036393	Q9UJQ1	CT103_HUMAN	Homo sapiens lysosomal-associated membrane protein family, member 5 (LAMP5), transcript variant 1, mRNA.	222						integral to membrane											CCATTGCAGAGCATAAATGCC	0.448000														17			4		0	0	0.00116845	0	0
SDK1	221935	broad.mit.edu	37	7	4007031	4007031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:4007031C>T	uc003smx.3	+	9	1650	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	504	Ig-like C2-type 5.				cell adhesion	integral to membrane		p.V503L(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGTGAGGTGTCCGGGGCTCCC	0.552000														51			9		0	0	0.000442599	0	0
DNAH11	8701	broad.mit.edu	37	7	21892148	21892148	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:21892148C>T	uc003svc.3	+	67	11012	c.10981C>T	c.(10981-10983)Ctt>Ttt	p.L3661F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3661	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGACGATCTCCTTTTGCGCCT	0.433000									Kartagener syndrome					76			6		0	0	0.00198382	0	0
CSMD1	64478	broad.mit.edu	37	8	3432542	3432542	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:3432542G>A	uc022aqr.1	-	9	1659	c.1269C>T	c.(1267-1269)acC>acT	p.T423T		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	424	CUB 3.					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)		AATTAGGGGAGGTAATGACGC	0.502000														26			9		0	0	0.000274275	0	0
DNAH10	196385	broad.mit.edu	37	12	124267767	124267767	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:124267767C>T	uc001uft.4	+	6	797	c.772C>T	c.(772-774)Cag>Tag	p.Q258*		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	258	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Q76*(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)		CTGGCTGAATCAGATATCCAC	0.527000														31			6		0	0	0.00116845	0	0
SEZ6L	23544	broad.mit.edu	37	22	26707866	26707867	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:26707866_26707867CC>TT	uc003acb.3	+	7	2010_2011	c.1814_1815CC>TT	c.(1813-1815)gcc>gTT	p.A605V	SEZ6L_uc003acd.3_Missense_Mutation_p.A605V|SEZ6L_uc011akd.2_Missense_Mutation_p.A605V|SEZ6L_uc003ace.3_Missense_Mutation_p.A605V|SEZ6L_uc011akc.2_Missense_Mutation_p.A605V|SEZ6L_uc003acc.3_Missense_Mutation_p.A605V|SEZ6L_uc003acf.1_Missense_Mutation_p.A378V|SEZ6L_uc010gvc.1_Missense_Mutation_p.A378V	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like (SEZ6L), transcript variant 1, mRNA.	605	Sushi 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CAGGGCCCGGCCATCATCGAAT	0.584000														60			10		0	0	6.4e-05	0	0
TRPV4	59341	broad.mit.edu	37	12	110226501	110226501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:110226501G>A	uc001tpj.2	-	11	2007	c.1912C>T	c.(1912-1914)Ccg>Tcg	p.P638S	TRPV4_uc001tpg.2_Missense_Mutation_p.P604S|TRPV4_uc021rdp.1_Missense_Mutation_p.P578S|TRPV4_uc001tph.2_Missense_Mutation_p.P591S|TRPV4_uc001tpi.2_Missense_Mutation_p.P531S|TRPV4_uc001tpk.2_Missense_Mutation_p.P638S	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	638					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	SH2 domain binding|actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						TTGGCACACGGGTTCAGGAGG	0.582000														32			5		0	0	0.00116845	0	0
GABPB2	126626	broad.mit.edu	37	1	151079611	151079611	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:151079611G>A	uc001ewr.2	+	6	1166	c.835G>A	c.(835-837)Gga>Aga	p.G279R	GABPB2_uc001ewt.2_Missense_Mutation_p.G140R	NM_144618	NP_653219	Q8TAK5	GABP2_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 2 (GABPB2), mRNA.	279					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	protein heterodimerization activity|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(3)|liver(2)|lung(7)	15				all cancers(107;7.17e-05)|GBM - Glioblastoma multiforme(94;0.000662)		AGTGACTGATGGAGTCCCTCT	0.458000														31			11		0	0	0.00136819	0	0
FBXL20	84961	broad.mit.edu	37	17	37455277	37455277	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:37455277G>A	uc002hrt.3	-	4	549	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C	FBXL20_uc010cvu.3_Missense_Mutation_p.R99C	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 20 (FBXL20), transcript variant 1, mRNA.	99						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			AGACATCCACGAAGACTTAAC	0.408000														52			39		0	0	0.0025221	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18764140	18764140	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:18764140G>A	uc010exr.3	-	5	1133	c.1021C>T	c.(1021-1023)Cac>Tac	p.H341Y	NT5C1B-RDH14_uc002rcy.3_Missense_Mutation_p.H399Y|NT5C1B-RDH14_uc010yju.2_Missense_Mutation_p.H339Y|NT5C1B-RDH14_uc002rcz.3_Missense_Mutation_p.H399Y|NT5C1B-RDH14_uc010yjw.2_Missense_Mutation_p.H382Y|NT5C1B-RDH14_uc010yjv.2_Missense_Mutation_p.H416Y|NT5C1B-RDH14_uc010exs.3_Missense_Mutation_p.H401Y|NT5C1B-RDH14_uc002rda.3_Missense_Mutation_p.H339Y	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	399					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										TTACCGTAGTGATTGACGCTG	0.413000														40			26		0	0	0.00178596	0	0
CD3D	915	broad.mit.edu	37	11	118209929	118209929	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:118209929C>T	uc001pss.1	-	4	601	c.464G>A	c.(463-465)cGa>cAa	p.R155Q	CD3D_uc001pst.1_Missense_Mutation_p.R111Q|CD3D_uc021qrf.1_Missense_Mutation_p.R82Q	NM_000732	NP_000723	P04234	CD3D_HUMAN	Homo sapiens CD3d molecule, delta (CD3-TCR complex) (CD3D), transcript variant 1, mRNA.	155	ITAM.				T cell costimulation|T cell receptor signaling pathway|positive thymic T cell selection	cytoplasm|integral to membrane	protein heterodimerization activity	p.R155*(1)		large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AGCATCATCTCGATCTCGGAG	0.547000														54			12		0	0	0.00185496	0	0
FBXL5	26234	broad.mit.edu	37	4	15640311	15640311	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:15640311G>A	uc003goc.2	-	3	528	c.403C>T	c.(403-405)Cag>Tag	p.Q135*	FBXL5_uc010idw.2_Nonsense_Mutation_p.Q48*|FBXL5_uc003gob.2_5'UTR|FBXL5_uc010idx.2_Nonsense_Mutation_p.Q135*|FBXL5_uc003god.2_Nonsense_Mutation_p.Q118*|FBXL5_uc010idy.2_Nonsense_Mutation_p.Q135*	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 5 (FBXL5), transcript variant 1, mRNA.	135	Hemerythrin-like.				SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|iron ion homeostasis	SCF ubiquitin ligase complex|perinuclear region of cytoplasm	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AACATGGGCTGAAAAACCTAA	0.333000														30			7		0	0	0.00198382	0	0
FBN3	84467	broad.mit.edu	37	19	8183802	8183802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:8183802C>T	uc002mjf.3	-	24	3333	c.3316G>A	c.(3316-3318)Gcc>Acc	p.A1106T		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1106	EGF-like 14; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.T1105M(1)		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						GTGCCCTTGGCCGTCAGCTCA	0.597000														28			4		0	0	0.00024832	0	0
TMC3	342125	broad.mit.edu	37	15	81627096	81627096	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:81627096C>T	uc021ssk.1	-	20	2424	c.2424G>A	c.(2422-2424)ggG>ggA	p.G808G	TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	808						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ATTTGGGGACCCCAGGGAGAG	0.567000														16			4		0	0	0.00024832	0	0
RLN1	6013	broad.mit.edu	37	9	5335571	5335571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:5335571C>T	uc003zjb.1	-	1	365	c.238G>A	c.(238-240)Gat>Aat	p.D80N		NM_006911	NP_008842	P04808	REL1_HUMAN	Homo sapiens relaxin 1 (RLN1), mRNA.	80					female pregnancy|signal transduction	extracellular region	hormone activity			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		GTTTCTGTATCTTTGTTGATG	0.373000														26			13		0	0	0.00185496	0	0
C7	730	broad.mit.edu	37	5	40947796	40947796	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:40947796G>A	uc003jmh.3	+	7	945	c.831G>A	c.(829-831)tgG>tgA	p.W277*	C7_uc011cpn.1_Intron	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	277	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AGCCATTCTGGAAGGAGCTTT	0.453000														20			12		0	0	0.00244969	0	0
SLC15A2	6565	broad.mit.edu	37	3	121616315	121616315	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:121616315C>T	uc003eep.2	+	2	427	c.274C>T	c.(274-276)Ctc>Ttc	p.L92F	SLC15A2_uc011bjn.1_Missense_Mutation_p.L92F	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	92					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CTTCAGCAGCCTCTGTTATTT	0.453000														62			16		0	0	0.00074312	0	0
SLC4A4	8671	broad.mit.edu	37	4	72316972	72316972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:72316972G>A	uc010iic.3	+	10	1393	c.1276G>A	c.(1276-1278)Gga>Aga	p.G426R	SLC4A4_uc003hfy.3_Missense_Mutation_p.G426R|SLC4A4_uc010iib.3_Missense_Mutation_p.G426R|SLC4A4_uc003hfz.3_Missense_Mutation_p.G426R|SLC4A4_uc003hgc.4_Missense_Mutation_p.G382R|SLC4A4_uc010iid.3_5'UTR|SLC4A4_uc003hga.2_Missense_Mutation_p.G304R|SLC4A4_uc003hgb.3_Missense_Mutation_p.G382R	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	426						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TGGAGGTCACGGAGGAGGAGG	0.443000														45			9		0	0	0.000442599	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423927	33423927	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:33423927G>A	uc003oeq.3	+	1	1318	c.1050G>A	c.(1048-1050)ggG>ggA	p.G350G	ZBTB9_uc021ywp.1_Silent_p.G350G	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA.	350	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						ATCTTCATGGGAATGAAATCC	0.607000														25			7		0	0	0.00198382	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439358	150439358	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:150439358G>A	uc022apw.1	+	5	883	c.743G>A	c.(742-744)gGg>gAg	p.G248E	GIMAP1-GIMAP5_uc003whr.2_Missense_Mutation_p.G44E	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		AGTGCCACAGGGAACAGCATC	0.527000														22			36		0	0	0.000953801	0	0
MAB21L3	126868	broad.mit.edu	37	1	116675959	116675959	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:116675959G>A	uc001egc.1	+	6	1327	c.1062G>A	c.(1060-1062)ctG>ctA	p.L354L		NM_152367	NP_689580	Q8N8X9	MB213_HUMAN	Homo sapiens mab-21-like 3 (C. elegans) (MAB21L3), mRNA.	354										breast(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|urinary_tract(1)	19						CCACCTTCCTGAAGAACCCCC	0.537000														20			11		0	0	0.00136819	0	0
PLXNA4	91584	broad.mit.edu	37	7	131859612	131859612	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:131859612G>A	uc003vra.4	-	20	4171	c.3942C>T	c.(3940-3942)ttC>ttT	p.F1314F		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1314						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TATAGTCCAGGAACGGAATCC	0.577000														89			10		0	0	0.000978159	0	0
ZNF709	163051	broad.mit.edu	37	19	12574931	12574931	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:12574931G>A	uc002mtv.4	-	3	1966	c.1805C>T	c.(1804-1806)tCc>tTc	p.S602F	ZNF709_uc002mtw.4_Missense_Mutation_p.S570F|ZNF709_uc002mtx.4_Missense_Mutation_p.S602F	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						GATTCGAAAGGAACGTGAGCA	0.423000														88			26		0	0	0.00106085	0	0
ZEB1	6935	broad.mit.edu	37	10	31791374	31791374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:31791374C>T	uc001ivs.4	+	3	481	c.418C>T	c.(418-420)Cct>Tct	p.P140S	ZEB1_uc001ivr.4_5'UTR|ZEB1_uc010qef.2_5'UTR|ZEB1_uc009xlh.1_Non-coding_Transcript|ZEB1_uc009xli.1_Non-coding_Transcript|ZEB1_uc009xlj.1_Intron|ZEB1_uc010qeg.1_Intron|ZEB1_uc009xlk.1_5'UTR|ZEB1_uc001ivu.4_Missense_Mutation_p.P141S|ZEB1_uc010qeh.2_Missense_Mutation_p.P73S|ZEB1_uc001ivv.4_Missense_Mutation_p.P120S|ZEB1_uc001ivt.4_5'UTR|ZEB1_uc009xll.2_Non-coding_Transcript|ZEB1_uc009xlm.1_Non-coding_Transcript|ZEB1_uc009xln.1_Non-coding_Transcript|ZEB1_uc009xlo.2_Missense_Mutation_p.P123S|ZEB1_uc009xlp.3_Missense_Mutation_p.P124S	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	140					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				TGTCATTTTTCCTGAGGCACC	0.423000														52			10		0	0	0.000978159	0	0
HYAL4	23553	broad.mit.edu	37	7	123509188	123509188	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:123509188G>A	uc003vlc.3	+	2	1499	c.861G>A	c.(859-861)agG>agA	p.R287R	HYAL4_uc011knz.2_Silent_p.R287R	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	287					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AATCCATGAGGATCTCCACCA	0.423000														61			8		0	0	0.000157383	0	0
C10orf113	387638	broad.mit.edu	37	10	21414760	21414760	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:21414760A>G	uc001iqm.3	-	1	511	c.460T>C	c.(460-462)Ttt>Ctt	p.F154L	NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_3'UTR	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN	Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.	154										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						ATTTACAAAAAAGTCATTTTC	0.388000														70			9		0	0	0.000673444	0	0
MUC16	94025	broad.mit.edu	37	19	9085838	9085838	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9085838C>T	uc002mkp.3	-	0	6181	c.5977G>A	c.(5977-5979)Gaa>Aaa	p.E1993K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1993	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						GAAACTTTTTCTGAAGAAACT	0.473000														38			10		0	0	0.000442599	0	0
DGKK	139189	broad.mit.edu	37	X	50133404	50133404	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:50133404C>T	uc010njr.2	-	11	1892	c.1848G>A	c.(1846-1848)tgG>tgA	p.W616*		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	616	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.W412C(1)|p.W412S(1)|p.W412F(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TCATCACACTCCATCTGAAAT	0.388000														41			11		0	0	0.000978159	0	0
CWF19L2	143884	broad.mit.edu	37	11	107299650	107299650	+	Silent	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:107299650C>G	uc010rvp.2	-	7	1338	c.1308G>C	c.(1306-1308)tcG>tcC	p.S436S	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	436							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TACTGGTTTCCGATGGCTTTT	0.408000														108			27		0	0	0.001512	0	0
DSCAML1	57453	broad.mit.edu	37	11	117374729	117374729	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:117374729C>T	uc001prh.1	-	10	2372	c.2370G>A	c.(2368-2370)ggG>ggA	p.G790G		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	730	Ig-like C2-type 9.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCTGGGGGTTCCCGCTCCCTG	0.632000														35			9		0	0	0.000978159	0	0
EXOC4	60412	broad.mit.edu	37	7	132973809	132973809	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:132973809T>C	uc003vrk.3	+	2	445	c.410T>C	c.(409-411)gTg>gCg	p.V137A	EXOC4_uc011kpo.2_Missense_Mutation_p.V36A|EXOC4_uc003vri.3_Missense_Mutation_p.V137A|EXOC4_uc003vrj.3_Missense_Mutation_p.V137A	NM_021807	NP_068579	Q96A65	EXOC4_HUMAN	Homo sapiens exocyst complex component 4 (EXOC4), transcript variant 1, mRNA.	137					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				ATCAAGCAAGTGCCTCAAAAG	0.453000														51			10		0	0	0.000442599	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315007	30315007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:30315007C>T	uc009xle.2	-	2	4207	c.4070G>A	c.(4069-4071)gGt>gAt	p.G1357D	KIAA1462_uc001iux.3_Intron|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Intron	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	0										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ATACTGAGCACCTGCCTGTCT	0.458000														55			17		0	0	0.00121646	0	0
IGSF1	3547	broad.mit.edu	37	X	130411080	130411080	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:130411080C>T	uc004ewe.4	-	13	2739	c.2456G>A	c.(2455-2457)gGa>gAa	p.G819E	IGSF1_uc004ewd.3_Missense_Mutation_p.G814E|IGSF1_uc022cdv.1_Missense_Mutation_p.G805E|IGSF1_uc004ewf.2_Missense_Mutation_p.G794E	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	814	Ig-like C2-type 8.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TATTTCACTTCCATCTTTGTA	0.522000														112			35		0	0	0.00058488	0	0
FZD4	8322	broad.mit.edu	37	11	86662310	86662310	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:86662310C>A	uc001pce.3	-	1	1801	c.1488G>T	c.(1486-1488)tgG>tgT	p.W496C	PRSS23_uc001pcc.1_Non-coding_Transcript	NM_012193	NP_036325	Q9ULV1	FZD4_HUMAN	Homo sapiens frizzled family receptor 4 (FZD4), mRNA.	496					Wnt receptor signaling pathway, calcium modulating pathway|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis	cell projection|cell surface|cytoplasm	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|cytokine binding|protein heterodimerization activity|protein homodimerization activity			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTTGGCAGACCAAATCCACA	0.428000														36			11		9.70103e-10	3.27214e-09	0.000673444	1	0
COL18A1	80781	broad.mit.edu	37	21	46911158	46911158	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:46911158G>A	uc002zhi.3	+	20	2648	c.2627G>A	c.(2626-2628)gGa>gAa	p.G876E	COL18A1_uc002zhg.3_Missense_Mutation_p.G696E	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1111	Nonhelical region 3 (NC3).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGGAAGGACGGAGTCGGGCAG	0.692000														18			7		0	0	0.000157383	0	0
C1orf101	257044	broad.mit.edu	37	1	244724443	244724443	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:244724443C>T	uc001iam.3	+	9	1562	c.1503C>T	c.(1501-1503)ttC>ttT	p.F501F	C1orf101_uc001iak.1_Silent_p.F55F|C1orf101_uc001ial.3_Silent_p.F501F|C1orf101_uc010pym.2_Silent_p.F350F|C1orf101_uc010pyn.2_Silent_p.F434F	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	Homo sapiens chromosome 1 open reading frame 101 (C1orf101), transcript variant 1, mRNA.	501						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ATGAAGTTTTCATAGGTAAGG	0.343000														69			13		0	0	0.00136819	0	0
OR9G4	283189	broad.mit.edu	37	11	56511255	56511255	+	Silent	SNP	G	A	A	rs61735257	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:56511255G>A	uc010rjo.2	-	0	33	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	11					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						CCACGGAGGTGAAAGCCTGAC	0.413000														50			27		0	0	0.0024448	0	0
MAP7	9053	broad.mit.edu	37	6	136704882	136704882	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:136704882C>T	uc011edg.2	-	5	879	c.630G>A	c.(628-630)tcG>tcA	p.S210S	MAP7_uc011edf.2_Silent_p.S173S|MAP7_uc010kgu.3_Silent_p.S210S|MAP7_uc011edh.2_Intron|MAP7_uc010kgv.3_Silent_p.S210S|MAP7_uc010kgs.3_Silent_p.S42S|MAP7_uc011edi.2_Silent_p.S42S|MAP7_uc010kgq.2_Silent_p.S94S|MAP7_uc003qgz.3_Silent_p.S188S|MAP7_uc003qha.2_Intron|MAP7_uc010kgr.2_Silent_p.S42S|MAP7_uc010kgt.2_Silent_p.S210S	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	188					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CAACATATTTCGAAAGATTCA	0.398000														20			11		0	0	0.00185496	0	0
GLT25D2	23127	broad.mit.edu	37	1	183938499	183938499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:183938499C>T	uc001gqr.3	-	4	1108	c.736G>A	c.(736-738)Gag>Aag	p.E246K	GLT25D2_uc010poj.1_Missense_Mutation_p.E246K|GLT25D2_uc001gqs.3_Missense_Mutation_p.E126K	NM_015101	NP_055916	Q8IYK4	GT252_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 2 (GLT25D2), mRNA.	246					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|skin(2)	31						TCCGAGGCCTCCTTCCTGAGG	0.542000														46			10		0	0	0.000442599	0	0
MAGIX	79917	broad.mit.edu	37	X	49021369	49021369	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:49021369C>T	uc010nin.1	+	3	495	c.448C>T	c.(448-450)Ccg>Tcg	p.P150S	MAGIX_uc004dmt.2_Intron|MAGIX_uc010nio.1_Intron|MAGIX_uc004dmu.2_Missense_Mutation_p.P91S|MAGIX_uc004dmw.2_Missense_Mutation_p.P83S	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN	Homo sapiens MAGI family member, X-linked (MAGIX), transcript variant 1, mRNA.	150	PDZ.																TGGGGACACTCCGCTGGCCGT	0.642000														18			9		0	0	0.000978159	0	0
C3P1	388503	broad.mit.edu	37	19	10169621	10169621	+	RNA	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:10169621G>A	uc010dwx.2	+	17		c.2256G>A								Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA.											endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						CGACTGCCTGGACAGCTTTGC	0.532000														47			11		0	0	0.00136819	0	0
HRNR	388697	broad.mit.edu	37	1	152193546	152193546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152193546G>A	uc001ezt.1	-	2	635	c.559C>T	c.(559-561)Cat>Tat	p.H187Y		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	187					keratinization		calcium ion binding|protein binding	p.H187H(1)		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)			GAAGACTGATGGGAGTCGGAG	0.527000														43			7		0	0	0.00198382	0	0
CSMD3	114788	broad.mit.edu	37	8	114326819	114326819	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:114326819G>A	uc003ynu.3	-	1	541	c.382C>T	c.(382-384)Cct>Tct	p.P128S	CSMD3_uc003ynt.3_Missense_Mutation_p.P88S|CSMD3_uc011lhx.2_Missense_Mutation_p.P128S|CSMD3_uc010mcx.1_Missense_Mutation_p.P128S|CSMD3_uc003ynx.4_Missense_Mutation_p.P128S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	128	CUB 1.					integral to membrane|plasma membrane		p.H127N(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAGTTTGTAGGATGAGGATGT	0.313000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				99			9		0	0	0.000274275	0	0
TINAG	27283	broad.mit.edu	37	6	54186101	54186101	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:54186101C>T	uc003pcj.2	+	2	572	c.426C>T	c.(424-426)tgC>tgT	p.C142C	TINAG_uc003pci.3_3'UTR|TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	142					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCAGCACATGCTCAGGACAGC	0.353000														48			11		0	0	0.00136819	0	0
CHST11	50515	broad.mit.edu	37	12	105151427	105151427	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:105151427C>T	uc001tkz.3	+	2	1403	c.905C>T	c.(904-906)cCc>cTc	p.P302L	CHST11_uc001tky.3_Missense_Mutation_p.P297L	NM_018413	NP_060883	Q9NPF2	CHSTB_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 11 (CHST11), transcript variant 1, mRNA.	302					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						CTGAAGTTCCCCACCTATGCA	0.493000														30			9		0	0	0.000442599	0	0
DMD	1756	broad.mit.edu	37	X	31792178	31792178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:31792178C>T	uc004dda.1	-	50	7685	c.7441G>A	c.(7441-7443)Gaa>Aaa	p.E2481K	DMD_uc004dcr.1_Missense_Mutation_p.E21K|DMD_uc004dcs.1_Missense_Mutation_p.E21K|DMD_uc004dct.1_Missense_Mutation_p.E21K|DMD_uc004dcu.1_Missense_Mutation_p.E21K|DMD_uc004dcv.1_Missense_Mutation_p.E21K|DMD_uc004dcw.2_Missense_Mutation_p.E1137K|DMD_uc004dcx.2_Missense_Mutation_p.E1140K|DMD_uc004dcz.2_Missense_Mutation_p.E2358K|DMD_uc004dcy.1_Missense_Mutation_p.E2477K|DMD_uc004ddb.1_Missense_Mutation_p.E2473K|DMD_uc004ddd.1_Missense_Mutation_p.E21K|JA202352_uc022buo.1_5'Flank	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2481					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCGGTAAGTTCTGTCCAAGCC	0.458000														34			28		0	0	0.00178596	0	0
CD93	22918	broad.mit.edu	37	20	23066320	23066320	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:23066320G>A	uc002wsv.3	-	0	658	c.510C>T	c.(508-510)tcC>tcT	p.S170S		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	170	C-type lectin.				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)					TACTTCCGGGGGAGCCTGGGC	0.652000														42			6		0	0	0.000274275	0	0
GNAS	2778	broad.mit.edu	37	20	57415441	57415441	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:57415441G>A	uc021wfl.1	+	0	647	c.280G>A	c.(280-282)Gag>Aag	p.E94K	GNAS-AS1_uc002xzs.2_Intron|GNAS_uc002xzt.3_5'UTR|GNAS_uc021wfm.1_Missense_Mutation_p.E94K|GNAS_uc010gjq.3_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 4, mRNA.	96					G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GGCAGACCTTGAGCTGTCCCT	0.622000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				27			6		0	0	0.00198382	0	0
CACNB2	783	broad.mit.edu	37	10	18789875	18789875	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:18789875C>T	uc001ipr.2	+	4	651	c.591C>T	c.(589-591)tcC>tcT	p.S197S	CACNB2_uc001ipt.2_Silent_p.S197S|CACNB2_uc009xjz.1_Intron|CACNB2_uc001ips.2_Silent_p.S197S|CACNB2_uc010qcl.2_Non-coding_Transcript|CACNB2_uc001ipu.3_Silent_p.S169S|CACNB2_uc001ipv.3_Silent_p.S169S|CACNB2_uc009xka.2_Silent_p.S169S|CACNB2_uc001ipw.2_Silent_p.S142S|CACNB2_uc001ipx.2_Silent_p.S142S|CACNB2_uc009xkb.1_Silent_p.S143S|CACNB2_uc010qcm.2_Silent_p.S143S|CACNB2_uc001ipz.2_Silent_p.S143S|CACNB2_uc001ipy.2_Silent_p.S143S|CACNB2_uc010qcn.2_Silent_p.S149S|CACNB2_uc010qco.1_Silent_p.S149S|CACNB2_uc001iqa.2_Silent_p.S149S	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	197					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AATTCTACTCCAGGTATGAGA	0.388000														17			5		0	0	0.00116845	0	0
MRPS2	51116	broad.mit.edu	37	9	138395439	138395439	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:138395439C>T	uc004cfv.4	+	3	425	c.351C>T	c.(349-351)gaC>gaT	p.D117D	BC015688_uc004cfy.3_Non-coding_Transcript	NM_016034	NP_057118	Q9Y399	RT02_HUMAN	Homo sapiens mitochondrial ribosomal protein S2 (MRPS2), nuclear gene encoding mitochondrial protein, mRNA.	117					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		ACATCATCGACCTGGAACAGA	0.587000														19			6		0	0	0.000157383	0	0
ADTRP	84830	broad.mit.edu	37	6	11778913	11778913	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:11778913T>A	uc011dip.2	-	0	368	c.80A>T	c.(79-81)gAa>gTa	p.E27V	ADTRP_uc003nab.3_Missense_Mutation_p.E27V	NM_001143948	NP_001137420	Q96IZ2	CF105_HUMAN	Homo sapiens chromosome 6 open reading frame 105 (C6orf105), transcript variant 1, mRNA.	27						integral to membrane											GTCTTTTCCTTCCTGTGAGAT	0.453000														183			22		0	0	0.00188189	0	0
ORC1	4998	broad.mit.edu	37	1	52841252	52841252	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:52841252T>C	uc001ctt.3	-	14	2384	c.2153A>G	c.(2152-2154)gAt>gGt	p.D718G	ORC1_uc010oni.2_Missense_Mutation_p.D713G|ORC1_uc001ctu.3_Missense_Mutation_p.D718G	NM_004153	NP_004144	Q13415	ORC1_HUMAN	Homo sapiens origin recognition complex, subunit 1 (ORC1), transcript variant 1, mRNA.	718	Necessary and sufficient for ORC complex assembly.				DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nuclear origin of replication recognition complex|nucleolus|nucleoplasm|plasma membrane	ATP binding|DNA binding|nucleoside-triphosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCGTCGTGCATCTCCAGACAG	0.542000														47			14		0	0	0.00244969	0	0
CNTN4	152330	broad.mit.edu	37	3	3084839	3084839	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:3084839G>A	uc003bpc.3	+	21	3029	c.2690G>A	c.(2689-2691)cGa>cAa	p.R897Q	CNTN4_uc003bpb.1_Missense_Mutation_p.R568Q|CNTN4_uc021wsg.1_Missense_Mutation_p.R897Q|CNTN4_uc003bpe.3_Missense_Mutation_p.R569Q|CNTN4_uc003bpf.3_Missense_Mutation_p.R568Q|CNTN4_uc003bpg.3_Missense_Mutation_p.R153Q	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	897					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTGACAACCCGAAAGCCACGT	0.438000														36			6		0	0	0.000157383	0	0
OR7G3	390883	broad.mit.edu	37	19	9237048	9237048	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9237048G>A	uc010xkl.2	-	0	579	c.579C>T	c.(577-579)ctC>ctT	p.L193L		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						TGTTATTGATGAGGACATCAG	0.453000														35			31		0	0	0.0024448	0	0
PPARA	5465	broad.mit.edu	37	22	46614225	46614225	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:46614225C>T	uc003bhb.1	+	3	558	c.435C>T	c.(433-435)atC>atT	p.I145I	PPARA_uc003bgw.1_Silent_p.I145I|PPARA_uc003bgx.1_Silent_p.I145I|PPARA_uc010hab.1_Silent_p.I145I|PPARA_uc003bha.3_Silent_p.I145I|PPARA_uc010hac.1_Missense_Mutation_p.S10F	NM_005036	NP_005027	Q07869	PPARA_HUMAN	Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA.	145					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|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|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	GCTGCAAGATCCAGAAAAAGA	0.478000														49			33		0	0	0.00283554	0	0
PCDP1	200373	broad.mit.edu	37	2	120409610	120409610	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:120409610C>T	uc002tmb.3	+	23	2633	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F		NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	793						cilium	calmodulin binding					Colorectal(110;0.196)					AAGTGGAATTCCCTATGTTGA	0.373000														24			4		0	0	0.000602214	0	0
PLAC1L	219990	broad.mit.edu	37	11	59814475	59814475	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:59814475C>T	uc001nol.3	+	3	591	c.406C>T	c.(406-408)Cct>Tct	p.P136S		NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	Homo sapiens placenta-specific 1-like (PLAC1L), mRNA.	136						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						GGATCCTAGTCCTTTTATTGC	0.383000														66			19		0	0	0.00121646	0	0
VPS18	57617	broad.mit.edu	37	15	41191637	41191637	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:41191637C>T	uc001zne.3	+	3	960	c.621C>T	c.(619-621)tcC>tcT	p.S207S		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	207					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CTGTGTGCTCCCTTGAGGCCG	0.612000														50			11		0	0	0.000978159	0	0
CCDC102B	79839	broad.mit.edu	37	18	66504355	66504355	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:66504355G>A	uc002lkk.2	+	3	578	c.355G>A	c.(355-357)Gaa>Aaa	p.E119K	CCDC102B_uc002lki.2_Missense_Mutation_p.E119K|CCDC102B_uc002lkj.1_Missense_Mutation_p.E119K	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	119										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)				TGCCAGGGAGGAAGGAAGACA	0.463000														31			13		0	0	0.00185496	0	0
ITGB5	3693	broad.mit.edu	37	3	124567200	124567200	+	Silent	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:124567200A>T	uc003eho.3	-	3	864	c.567T>A	c.(565-567)ccT>ccA	p.P189P		NM_002213	NP_002204	P18084	ITB5_HUMAN	Homo sapiens integrin, beta 5 (ITGB5), mRNA.	189	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|muscle contraction	integrin complex	receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	30				GBM - Glioblastoma multiforme(114;0.163)		TGTAGGAGAAAGGAGAGATGT	0.527000														83			17		0	0	0.000958276	0	0
CCDC25	55246	broad.mit.edu	37	8	27610082	27610082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:27610082G>A	uc003xgc.3	-	4	304	c.191C>T	c.(190-192)cCa>cTa	p.P64L	CCDC25_uc011lan.2_Non-coding_Transcript|CCDC25_uc003xgd.3_5'UTR|CCDC25_uc011lao.2_Non-coding_Transcript|CCDC25_uc003xge.3_Non-coding_Transcript|CCDC25_uc003xgf.1_Non-coding_Transcript	NM_018246	NP_060716	Q86WR0	CCD25_HUMAN	Homo sapiens coiled-coil domain containing 25 (CCDC25), mRNA.	64										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0223)|KIRC - Kidney renal clear cell carcinoma(542;0.11)|Kidney(114;0.131)|Colorectal(74;0.154)		CACTTCCTTTGGGATGTCTTC	0.438000														29			5		0	0	0.00198382	0	0
TP63	8626	broad.mit.edu	37	3	189586498	189586498	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:189586498G>A	uc003fry.2	+	7	1211	c.1122G>A	c.(1120-1122)acG>acA	p.T374T	TP63_uc003frx.2_Silent_p.T374T|TP63_uc003frz.2_Silent_p.T374T|TP63_uc010hzc.1_Silent_p.T374T|TP63_uc003fsa.2_Silent_p.T280T|TP63_uc003fsb.2_Silent_p.T280T|TP63_uc003fsc.2_Silent_p.T280T|TP63_uc003fsd.2_Silent_p.T280T|TP63_uc021xir.1_Silent_p.T280T|TP63_uc010hzd.1_Silent_p.T195T|TP63_uc003fse.1_Intron	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	374	Interaction with HIPK2.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GTGATGGTACGAAGCGCCGTA	0.498000										HNSCC(45;0.13)				47			9		0	0	0.000978159	0	0
SATL1	340562	broad.mit.edu	37	X	84363957	84363957	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:84363957C>T	uc004een.3	-	0	18	c.18G>A	c.(16-18)acG>acA	p.T6T		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	61							N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TTGATTGGTTCGTGCCTGATT	0.478000											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		1			4		0	0	0.00024832	0	0
DSCAM	1826	broad.mit.edu	37	21	41465678	41465678	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:41465678C>T	uc002yyq.1	-	20	4272	c.3820G>A	c.(3820-3822)Gaa>Aaa	p.E1274K	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.	1274	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GTGATGATTTCACTGCTGTTG	0.468000														8			4		0	0	0.00024832	0	0
CSMD1	64478	broad.mit.edu	37	8	3889576	3889576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:3889576C>T	uc022aqr.1	-	3	851	c.461G>A	c.(460-462)gGa>gAa	p.G154E		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	154	Sushi 1.					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)		ATGCAGAACTCCTTTCAGGAT	0.448000														42			13		0	0	0.000308642	0	0
ZNF248	57209	broad.mit.edu	37	10	38126611	38126611	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:38126611A>C	uc001izd.1	-	4	671	c.172T>G	c.(172-174)Ttt>Gtt	p.F58V	ZNF248_uc009xmc.2_Missense_Mutation_p.F58V|ZNF248_uc001izb.3_Non-coding_Transcript|ZNF248_uc001izc.3_Missense_Mutation_p.F58V|ZNF248_uc010qeu.1_Missense_Mutation_p.F58V	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	Homo sapiens zinc finger protein 248 (ZNF248), mRNA.	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TCGATCTTAAAGATCACTTCT	0.443000														15			7		0	0	0.00198382	0	0
CTNNA3	29119	broad.mit.edu	37	10	68280388	68280388	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:68280388G>A	uc009xpn.1	-	10	1641	c.1518C>T	c.(1516-1518)ttC>ttT	p.F506F	CTNNA3_uc001jmw.2_Silent_p.F506F|CTNNA3_uc001jmx.4_Silent_p.F506F	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	506					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ATACAGCAAGGAAGTCATCAA	0.363000														22			10		0	0	0.000978159	0	0
MMP3	4314	broad.mit.edu	37	11	102711167	102711167	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:102711167G>A	uc001phj.1	-	4	848	c.783C>T	c.(781-783)tcC>tcT	p.S261S		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	261					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CACCATAGAGGGACTGAATGC	0.418000														31			12		0	0	0.000422831	0	0
SLC7A5	8140	broad.mit.edu	37	16	87873356	87873356	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:87873356G>A	uc002fkm.3	-	4	963	c.891C>T	c.(889-891)ttC>ttT	p.F297F		NM_003486	NP_003477	Q01650	LAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 5 (SLC7A5), mRNA.	297					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		ACAGGGTGGTGAAGTAGGCCA	0.637000														11			4		0	0	0.000602214	0	0
COL14A1	7373	broad.mit.edu	37	8	121295983	121295983	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:121295983A>T	uc003yox.3	+	31	4198	c.3933A>T	c.(3931-3933)aaA>aaT	p.K1311N	COL14A1_uc003yoz.3_Missense_Mutation_p.K276N	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1311	Nonhelical region (NC4).|TSP N-terminal.				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)			TTTTAAATAAAAATTCTGACC	0.383000														80			11		0	0	0.000673444	0	0
ST18	9705	broad.mit.edu	37	8	53084937	53084937	+	Missense_Mutation	SNP	C	T	T	rs147121734	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:53084937C>T	uc003xqz.2	-	4	640	c.484G>A	c.(484-486)Gat>Aat	p.D162N	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.D127N|ST18_uc011lds.1_Missense_Mutation_p.D67N|ST18_uc003xra.2_Missense_Mutation_p.D162N|ST18_uc003xrb.2_Missense_Mutation_p.D162N	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	162						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCTGCTTCATCGCTCTCTGCT	0.388000														115			20		0	0	0.00188189	0	0
F5	2153	broad.mit.edu	37	1	169511939	169511939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:169511939C>T	uc001ggg.1	-	12	2534	c.2389G>A	c.(2389-2391)Gcc>Acc	p.A797T		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	797	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGAGAAGGGGCTTTCTGAGGT	0.433000														48			19		0	0	0.00152264	0	0
OPRL1	4987	broad.mit.edu	37	20	62729677	62729677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:62729677C>T	uc002yic.3	+	4	1057	c.638C>T	c.(637-639)cCg>cTg	p.P213L	OPRL1_uc002yid.3_Missense_Mutation_p.P213L|OPRL1_uc021wgs.1_Missense_Mutation_p.P213L|OPRL1_uc002yif.4_Missense_Mutation_p.P208L	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	213					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	X-opioid receptor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TACTGGGGCCCGGTGTTTGCC	0.617000														26			6		0	0	0.00116845	0	0
SNRPB2	6629	broad.mit.edu	37	20	16712355	16712355	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:16712355T>G	uc002wph.2	+	1	244	c.8T>G	c.(7-9)aTc>aGc	p.I3S	SNRPB2_uc002wpi.2_Missense_Mutation_p.I3S	NM_003092	NP_937863	P08579	RU2B_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide B (SNRPB2), transcript variant 1, mRNA.	3						U2 snRNP|catalytic step 2 spliceosome|nucleoplasm	RNA binding|nucleotide binding|protein binding			large_intestine(2)|lung(2)|urinary_tract(1)	5						AACATGGATATCAGACCAAAT	0.294000														147			23		0	0	0.000720815	0	0
PTCH1	5727	broad.mit.edu	37	9	98231074	98231074	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:98231074C>A	uc004avk.4	-	13	2397	c.2209G>T	c.(2209-2211)Gag>Tag	p.E737*	PTCH1_uc010mro.3_Nonsense_Mutation_p.E586*|PTCH1_uc010mrp.3_Nonsense_Mutation_p.E586*|PTCH1_uc010mrq.3_Nonsense_Mutation_p.E586*|PTCH1_uc004avl.4_Nonsense_Mutation_p.E586*|PTCH1_uc004avm.4_Nonsense_Mutation_p.E736*|PTCH1_uc010mrr.3_Nonsense_Mutation_p.E671*|LOC100507346_uc022bkm.1_Non-coding_Transcript|PTCH1_uc010mrs.1_Nonsense_Mutation_p.E405*	NM_000264	NP_001077076	Q13635	PTC1_HUMAN	Homo sapiens patched 1 (PTCH1), transcript variant 1b, mRNA.	737					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.A736V(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TAGTGCTTCTCAGCAAAAGAT	0.507000														164			12		0.000308642	0.00103489	0.000308642	1	0
ENPP3	5169	broad.mit.edu	37	6	131995398	131995398	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:131995398C>T	uc003qcu.4	+	8	1086	c.739C>T	c.(739-741)Cca>Tca	p.P247S	ENPP3_uc010kfn.1_Non-coding_Transcript|ENPP3_uc011ecc.1_Missense_Mutation_p.P213S|ENPP3_uc010kfo.1_Non-coding_Transcript|ENPP3_uc010kfp.1_Non-coding_Transcript|ENPP3_uc003qcv.3_Missense_Mutation_p.P247S|ENPP3_uc010kfq.3_Non-coding_Transcript	NM_005021	NP_005012	O14638	ENPP3_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 3 (ENPP3), mRNA.	247	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		ACAAAATAATCCAGCCTGGTG	0.413000														17			7		0	0	0.000274275	0	0
PKHD1	5314	broad.mit.edu	37	6	51712650	51712650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:51712650G>A	uc003pah.1	-	49	8306	c.8030C>T	c.(8029-8031)cCa>cTa	p.P2677L	PKHD1_uc010jzn.1_Missense_Mutation_p.P660L|PKHD1_uc003pai.3_Missense_Mutation_p.P2677L	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2677					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGGAAGAAATGGAAAAGACAG	0.483000														68			10		0	0	0.000673444	0	0
DHX40	79665	broad.mit.edu	37	17	57650551	57650551	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:57650551C>T	uc002ixn.2	+	3	648	c.501C>T	c.(499-501)ttC>ttT	p.F167F	DHX40_uc010woe.2_Silent_p.F90F|DHX40_uc002ixo.1_Silent_p.F68F	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.	167	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTACCAAATTCAGTGTCATTA	0.328000														142			71		0	0	0.000781405	0	0
C1S	716	broad.mit.edu	37	12	7172536	7172537	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:7172536_7172537CC>TT	uc001qsj.3	+	8	1369_1370	c.650_651CC>TT	c.(649-651)acc>aTT	p.T217I	C1S_uc001qsk.3_Missense_Mutation_p.T217I|C1S_uc001qsl.3_Missense_Mutation_p.T217I|C1S_uc009zfr.3_Missense_Mutation_p.T50I|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	217	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GTGGTGGTGACCTTGCGGAGAG	0.475000														77			22		0	0	6.4e-05	0	0
AGL	178	broad.mit.edu	37	1	100366397	100366397	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:100366397C>T	uc001dsi.1	+	25	3968	c.3568C>T	c.(3568-3570)Cct>Tct	p.P1190S	AGL_uc001dsj.1_Missense_Mutation_p.P1190S|AGL_uc001dsk.1_Missense_Mutation_p.P1190S|AGL_uc001dsl.1_Missense_Mutation_p.P1190S|AGL_uc001dsm.1_Missense_Mutation_p.P1174S|AGL_uc001dsn.1_Missense_Mutation_p.P1173S	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	1190					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGATTCTGCTCCTTTGCCTGC	0.338000														59			48		0	0	0.000781405	0	0
ANKRD55	79722	broad.mit.edu	37	5	55472069	55472069	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:55472069C>T	uc003jqu.3	-	3	374	c.222G>A	c.(220-222)gcG>gcA	p.A74A		NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	Homo sapiens ankyrin repeat domain 55 (ANKRD55), mRNA.	73								p.A74A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				TCACTGTGTCCGCTTGACGTC	0.493000														58			26		0	0	0.0024448	0	0
EXTL3	2137	broad.mit.edu	37	8	28575121	28575121	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:28575121C>T	uc003xgz.1	+	2	2138	c.1545C>T	c.(1543-1545)ctC>ctT	p.L515L		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	515						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GCCGCTTTCTCTGGGAGACTT	0.552000														50			17		0	0	0.00152264	0	0
IGSF3	3321	broad.mit.edu	37	1	117127336	117127336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:117127336G>A	uc001egq.1	-	9	3544	c.2839C>T	c.(2839-2841)Ccc>Tcc	p.P947S	IGSF3_uc001egr.1_Missense_Mutation_p.P927S|IGSF3_uc001egs.1_Missense_Mutation_p.P600S	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	927						integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ATGCCACTGGGGCTGGGCAGC	0.632000														13			7		0	0	0.00198382	0	0
STAB2	55576	broad.mit.edu	37	12	104089598	104089598	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:104089598C>T	uc001tjw.3	+	32	3744	c.3558C>T	c.(3556-3558)atC>atT	p.I1186I		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1186	FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGAATTACATCAGGGAGAAGA	0.398000														60			9		0	0	0.000978159	0	0
TAOK2	9344	broad.mit.edu	37	16	29997712	29997712	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:29997712C>T	uc010bzm.2	+	14	2175	c.2140C>T	c.(2140-2142)Cgc>Tgc	p.R714C	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Missense_Mutation_p.R707C|TAOK2_uc021tgf.1_Missense_Mutation_p.R707C|TAOK2_uc002dva.2_Missense_Mutation_p.R707C|TAOK2_uc002dvc.2_Missense_Mutation_p.R707C|TAOK2_uc002dvd.2_Missense_Mutation_p.R534C	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	707					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TGAGCTCACCCGCCTGCAGCA	0.682000														14			8		0	0	0.000157383	0	0
HCK	3055	broad.mit.edu	37	20	30686817	30686817	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:30686817C>T	uc002wxh.3	+	11	1494	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	HCK_uc010gdy.3_Silent_p.F399F|HCK_uc021wbv.1_Silent_p.F398F|HCK_uc002wxi.3_Silent_p.F397F	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	419	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGGCCAAGTTCCCCATCAAGT	0.567000														63			11		0	0	0.000308642	0	0
THAP11	57215	broad.mit.edu	37	16	67877059	67877059	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:67877059G>A	uc002euo.3	+	0	847	c.602G>A	c.(601-603)gGc>gAc	p.G201D	CENPT_uc002eun.4_Intron	NM_020457	NP_065190	Q96EK4	THA11_HUMAN	Homo sapiens THAP domain containing 11 (THAP11), mRNA.	201	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		GCCGCAGAGGGCGCAGCCGCT	0.667000														34			13		0	0	0.00185496	0	0
TACC2	10579	broad.mit.edu	37	10	123971130	123971130	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:123971130C>T	uc001lfv.3	+	8	7550	c.7190C>T	c.(7189-7191)tCc>tTc	p.S2397F	TACC2_uc001lfw.3_Missense_Mutation_p.S543F|TACC2_uc009xzx.3_Missense_Mutation_p.S2352F|TACC2_uc010qtv.2_Missense_Mutation_p.S2401F|TACC2_uc001lfx.3_Missense_Mutation_p.S101F|TACC2_uc001lfy.3_Missense_Mutation_p.S101F|TACC2_uc001lfz.3_Missense_Mutation_p.S475F|TACC2_uc001lga.3_Missense_Mutation_p.S475F|TACC2_uc009xzy.3_Missense_Mutation_p.S475F|TACC2_uc001lgb.3_Missense_Mutation_p.S432F|TACC2_uc010qtw.1_Missense_Mutation_p.S492F	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2397	SPAZ.					microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TCCCCAGCCTCCTTTGAGATC	0.512000														23			10		0	0	0.000442599	0	0
PNKD	25953	broad.mit.edu	37	2	219206831	219206831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:219206831C>T	uc002vhn.3	+	6	889	c.745C>T	c.(745-747)Ctc>Ttc	p.L249F	PNKD_uc002vhq.3_Missense_Mutation_p.L225F	NM_015488	NP_056303	Q8N490	PNKD_HUMAN	Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	249						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCCTCCTGCCTCTTCTCAGG	0.622000														8			12		0	0	0.00136819	0	0
TTN	7273	broad.mit.edu	37	2	179430436	179430436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179430436C>T	uc021vsy.1	-	274	72944	c.72719G>A	c.(72718-72720)gGc>gAc	p.G24240D	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G17935D|TTN_uc021vta.1_Missense_Mutation_p.G17868D|TTN_uc021vtb.1_Missense_Mutation_p.G17743D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	25167	Ig-like 121.						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)			TCTGCTACCGCCATCATGTTC	0.483000														38			23		0	0	0.00229938	0	0
ZNF425	155054	broad.mit.edu	37	7	148800740	148800740	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:148800740A>G	uc003wfj.3	-	3	2356	c.2223T>C	c.(2221-2223)atT>atC	p.I741I		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	741					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CATGCACTGCAATGTGGGTCT	0.582000														38			4		0	0	0.00024832	0	0
SLFN13	146857	broad.mit.edu	37	17	33769167	33769167	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:33769167G>A	uc002hjk.1	-	2	1667	c.1337C>T	c.(1336-1338)gCt>gTt	p.A446V	SLFN13_uc010wch.1_Missense_Mutation_p.A446V|SLFN13_uc002hjl.2_Missense_Mutation_p.A446V|SLFN13_uc002hjm.2_Missense_Mutation_p.A115V|SLFN13_uc010ctt.2_Missense_Mutation_p.A128V	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	446						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAGGTCCACAGCCCAGCTTCT	0.498000														28			15		0	0	0.000308642	0	0
GRM3	2913	broad.mit.edu	37	7	86394792	86394792	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:86394792G>A	uc003uid.3	+	1	1430	c.331G>A	c.(331-333)Gag>Aag	p.E111K	GRM3_uc010lef.3_Missense_Mutation_p.E109K|GRM3_uc010leg.3_Intron|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	111					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCAATCACTGGAGTTTGTCAG	0.418000														41			6		0	0	0.00198382	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43945032	43945032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:43945032G>A	uc010skx.2	-	1	133	c.133C>T	c.(133-135)Ccc>Tcc	p.P45S		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	45						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ACCCGCTCGGGGATCACTACT	0.577000														18			8		0	0	0.000442599	0	0
CLIC6	54102	broad.mit.edu	37	21	36081723	36081723	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:36081723G>A	uc010gmt.1	+	5	1840	c.1840G>A	c.(1840-1842)Gaa>Aaa	p.E614K	CLIC6_uc002yuf.1_Missense_Mutation_p.E596K	NM_053277	NP_444507	Q96NY7	CLIC6_HUMAN	Homo sapiens chloride intracellular channel 6 (CLIC6), nuclear gene encoding mitochondrial protein, mRNA.	614	GST C-terminal.					chloride channel complex|cytoplasm|plasma membrane	voltage-gated chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						TCTGCCTGATGAAATAGATGC	0.473000														33			9		0	0	0.000442599	0	0
XIST	7503	broad.mit.edu	37	X	73053139	73053139	+	RNA	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:73053139G>A	uc004ebm.1	-	2		c.11507C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		ATTCTCAAAGGGAAAGATATG	0.433000														28			18		0	0	0.00074312	0	0
ATP6V0D1	9114	broad.mit.edu	37	16	67472455	67472455	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:67472455G>A	uc010vjo.1	-	8	1255	c.1155C>T	c.(1153-1155)atC>atT	p.I385I	ATP6V0D1_uc002ete.1_Silent_p.I344I|ATP6V0D1_uc010vjn.1_Silent_p.I267I	NM_004691	NP_004682	P61421	VA0D1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.	344					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		TGTAGTTGTCGATTTTGGCGC	0.537000														20			6		0	0	0.00198382	0	0
CRISP3	10321	broad.mit.edu	37	6	49698930	49698930	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:49698930C>T	uc021zai.1	-	6	713	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	CRISP3_uc003ozs.3_Missense_Mutation_p.E199K	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	186					innate immune response	proteinaceous extracellular matrix|specific granule		p.K208R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			GCTCCTTGTTCATAAGGGACA	0.328000														125			24		0	0	0.000586117	0	0
ARHGAP21	57584	broad.mit.edu	37	10	24896788	24896788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:24896788G>A	uc001isb.2	-	9	2954	c.2467C>T	c.(2467-2469)Cct>Tct	p.P823S	ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Missense_Mutation_p.P823S|ARHGAP21_uc010qdc.1_Missense_Mutation_p.P658S	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	822					signal transduction	Golgi membrane|cell junction|cytoplasmic vesicle membrane|cytoskeleton	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GCAGAGGCAGGGATATGTGCA	0.413000														39			9		0	0	0.000442599	0	0
TCHHL1	126637	broad.mit.edu	37	1	152059655	152059655	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152059655A>C	uc001ezo.1	-	2	568	c.503T>G	c.(502-504)tTt>tGt	p.F168C		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	168							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TTCTCCTGGAAAGTTGTGAGT	0.448000														61			14		0	0	0.00244969	0	0
GPR158	57512	broad.mit.edu	37	10	25886792	25886792	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:25886792C>T	uc001isj.3	+	10	2297	c.2237C>T	c.(2236-2238)tCg>tTg	p.S746L	GPR158_uc001isk.3_Missense_Mutation_p.S121L	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	746						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S746S(1)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						AAGCGGTGCTCGAAGAAGGGC	0.502000														26			5		0	0	0.000602214	0	0
AK296065	0	broad.mit.edu	37	7	150773192	150773192	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:150773192C>T	uc011kvf.2	-	0	426	c.253G>A	c.(253-255)Ggc>Agc	p.G85S	SLC4A2_uc022apz.1_Silent_p.A1188A|SLC4A2_uc003wit.4_Silent_p.A1188A|SLC4A2_uc011kve.2_Silent_p.A1179A|SLC4A2_uc003wiu.4_Silent_p.A1174A					SubName: Full=cDNA FLJ59028;																		CCTCCCTGGCCTTCCCCTTCA	0.642000														72			11		0	0	0.00136819	0	0
TEK	7010	broad.mit.edu	37	9	27169586	27169586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:27169586G>A	uc011lno.2	+	3	1029	c.587G>A	c.(586-588)gGa>gAa	p.G196E	TEK_uc010mjc.1_Missense_Mutation_p.G49E|TEK_uc011lnn.1_Missense_Mutation_p.G196E|TEK_uc003zqi.4_Missense_Mutation_p.G196E|TEK_uc011lnp.2_Missense_Mutation_p.G92E|TEK_uc003zqj.1_Missense_Mutation_p.G173E	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	196					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TATATAGGAGGAAACCTCTTC	0.502000														33			8		0	0	0.000274275	0	0
NOS1	4842	broad.mit.edu	37	12	117718614	117718614	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:117718614C>T	uc001twn.2	-	7	2151	c.1440G>A	c.(1438-1440)tgG>tgA	p.W480*	NOS1_uc021ren.1_Nonsense_Mutation_p.W144*|NOS1_uc021reo.1_Nonsense_Mutation_p.W144*|NOS1_uc001twm.2_Nonsense_Mutation_p.W480*	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	480					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.W480*(2)		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)	GCTGGGAGTTCCAGACTCGGA	0.622000														22			7		0	0	0.00198382	0	0
FOSB	2354	broad.mit.edu	37	19	45976161	45976161	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:45976161C>T	uc002pbx.4	+	3	1500	c.908C>T	c.(907-909)tCg>tTg	p.S303L	ERCC1_uc002pbu.2_Intron|FOSB_uc010eka.1_3'UTR|FOSB_uc010ekb.1_3'UTR|FOSB_uc010ekc.1_3'UTR|FOSB_uc010ekd.1_3'UTR|FOSB_uc010eke.3_Missense_Mutation_p.S228L|FOSB_uc002pby.4_Missense_Mutation_p.S267L|FOSB_uc010ekf.3_Missense_Mutation_p.S264L|FOSB_uc010ekg.3_Missense_Mutation_p.S160L|FOSB_uc002pca.4_Missense_Mutation_p.S254L	NM_006732	NP_006723	P53539	FOSB_HUMAN	Homo sapiens FBJ murine osteosarcoma viral oncogene homolog B (FOSB), transcript variant 1, mRNA.	303					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		TACACTTCTTCGTTTGTCCTC	0.617000														45			9		0	0	0.000978159	0	0
AADAT	51166	broad.mit.edu	37	4	171009679	171009679	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:171009679G>A	uc003isr.3	-	1	446	c.104C>T	c.(103-105)tCc>tTc	p.S35F	AADAT_uc003iss.3_Missense_Mutation_p.S35F|AADAT_uc003ist.3_Missense_Mutation_p.S39F	NM_016228	NP_872603	Q8N5Z0	AADAT_HUMAN	Homo sapiens aminoadipate aminotransferase (AADAT), transcript variant 1, mRNA.	35					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ACCAGCCAAGGAGATCATCGA	0.388000														65			26		0	0	0.00106085	0	0
SMARCAL1	50485	broad.mit.edu	37	2	217281011	217281011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:217281011G>A	uc002vgc.4	+	3	1173	c.843G>A	c.(841-843)atG>atA	p.M281I	SMARCAL1_uc002vgd.4_Missense_Mutation_p.M281I|SMARCAL1_uc010fvg.3_Missense_Mutation_p.M281I	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	281	HARP 1.				DNA metabolic process|chromatin modification|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		ACTTCAGCATGAATGACTATA	0.438000									Schimke Immuno-Osseous Dysplasia					79			18		0	0	0.00152264	0	0
PCLO	27445	broad.mit.edu	37	7	82585284	82585284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:82585284C>T	uc003uhx.2	-	4	5274	c.4985G>A	c.(4984-4986)gGa>gAa	p.G1662E	PCLO_uc003uhv.2_Missense_Mutation_p.G1662E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1593					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.G1662R(1)|p.G1661*(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCGTAGCCCTCCTCCTCCAGT	0.368000														46			59		0	0	0.000781405	0	0
RDBP	7936	broad.mit.edu	37	6	31922531	31922531	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31922531G>A	uc003nyk.3	-	6	747	c.543C>T	c.(541-543)tcC>tcT	p.S181S	RDBP_uc011dot.2_Silent_p.S151S|RDBP_uc021yvb.1_Silent_p.S176S	NM_002904	NP_002895	P18615	NELFE_HUMAN	Homo sapiens RD RNA binding protein (RDBP), mRNA.	181					positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	mitochondrion|nucleoplasm	RNA binding|nucleotide binding|protein binding			cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)	9						TTCGGGGAGGGGAGGCTGAGG	0.647000														244			45		0	0	0.000781405	0	0
ENAM	10117	broad.mit.edu	37	4	71508434	71508434	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:71508434G>A	uc011caw.1	+	8	1572	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	431					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TGTTCGCAATGAAAAAATCCA	0.468000														32			11		0	0	0.000673444	0	0
OR2B6	26212	broad.mit.edu	37	6	27925360	27925360	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:27925360C>T	uc011dkx.2	+	0	342	c.342C>T	c.(340-342)ctC>ctT	p.L114L		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L113L(1)		endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AATATCTTCTCCTGGCCGTCA	0.463000														64			10		0	0	0.000673444	0	0
CD1D	912	broad.mit.edu	37	1	158152800	158152800	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158152800G>A	uc001frr.3	+	4	1239	c.740G>A	c.(739-741)gGc>gAc	p.G247D	CD1D_uc009wss.3_Intron	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	247	Ig-like.				T cell selection|antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GAGCAGCAGGGCACTCAGCCA	0.622000														51			7		0	0	0.000157383	0	0
ITGB4	3691	broad.mit.edu	37	17	73725388	73725388	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:73725388C>T	uc002jpg.3	+	6	796	c.609C>T	c.(607-609)ttC>ttT	p.F203F	ITGB4_uc002jph.3_Silent_p.F203F|ITGB4_uc010dgo.3_Silent_p.F203F|ITGB4_uc002jpi.4_Silent_p.F203F|ITGB4_uc010dgp.1_Silent_p.F203F|ITGB4_uc002jpj.3_Silent_p.F203F|ITGB4_uc010wsh.1_5'Flank	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	203	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTTCTCCTTCAAGAACGTCA	0.607000														19			23		0	0	0.00127121	0	0
OR51A7	119687	broad.mit.edu	37	11	4929223	4929223	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:4929223G>A	uc010qyq.2	+	0	624	c.624G>A	c.(622-624)ctG>ctA	p.L208L		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		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)		GTACTATGCTGGACTTGGCAC	0.443000														43			12		0	0	0.00185496	0	0
LAMB4	22798	broad.mit.edu	37	7	107746428	107746428	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:107746428G>A	uc010ljo.1	-	7	788	c.704C>T	c.(703-705)aCc>aTc	p.T235I	LAMB4_uc003vey.2_Missense_Mutation_p.T235I	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	235	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATCCCCAAGGGTGTGGAGCTT	0.403000														61			9		0	0	0.000673444	0	0
SCARA3	51435	broad.mit.edu	37	8	27516854	27516854	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:27516854C>T	uc003xga.1	+	4	1308	c.1167C>T	c.(1165-1167)ttC>ttT	p.F389F	SCARA3_uc003xgb.1_Silent_p.F389F	NM_016240	NP_057324	Q6AZY7	SCAR3_HUMAN	Homo sapiens scavenger receptor class A, member 3 (SCARA3), transcript variant 1, mRNA.	389					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)		CGCTGGGCTTCCACACCCATG	0.582000														14			6		0	0	0.00116845	0	0
TSHZ2	128553	broad.mit.edu	37	20	51870346	51870346	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:51870346G>A	uc002xwo.3	+	1	1236	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	TSHZ2_uc021wex.1_Missense_Mutation_p.E114K	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	117					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E117K(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GCTTCCAAACGAAGCACACAA	0.527000														24			8		0	0	0.000157383	0	0
PRKAG3	53632	broad.mit.edu	37	2	219694767	219694767	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:219694767C>T	uc002vjb.1	-	3	586	c.567G>A	c.(565-567)caG>caA	p.Q189Q	PRKAG3_uc010zkn.1_Non-coding_Transcript|PRKAG3_uc010fvy.1_Silent_p.Q189Q|PRKAG3_uc010zko.1_Silent_p.Q185Q	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.	189				MQ -> IE (in Ref. 1; CAB65117).	cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTGTGCTCCTGCATGAAGC	0.612000														30			9		0	0	0.000673444	0	0
LANCL1	10314	broad.mit.edu	37	2	211302518	211302518	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:211302518G>A	uc010zjh.2	-	6	844	c.769C>T	c.(769-771)Cct>Tct	p.P257S	LANCL1_uc002ved.3_Missense_Mutation_p.P257S|LANCL1_uc010fuq.3_Missense_Mutation_p.P257S	NM_001136574	NP_006046	O43813	LANC1_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 1 (bacterial) (LANCL1), transcript variant 2, mRNA.	257						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	G-protein coupled receptor activity|SH3 domain binding|catalytic activity|glutathione binding|low-density lipoprotein particle receptor binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TTGCCAGAAGGGAATTTCAGC	0.478000														30			11		0	0	0.00136819	0	0
STARD6	147323	broad.mit.edu	37	18	51858172	51858172	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:51858172G>A	uc010xdt.2	-	3	325	c.325C>T	c.(325-327)Cga>Tga	p.R109*		NM_139171	NP_631910	P59095	STAR6_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA.	109	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		ATAAAGTCTCGAGGGGAAATG	0.378000														66			19		0	0	0.00121646	0	0
ISPD	729920	broad.mit.edu	37	7	16255819	16255819	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:16255819G>A	uc010ktx.2	-	8	1123	c.1123C>T	c.(1123-1125)Cat>Tat	p.H375Y	ISPD_uc010kty.2_Missense_Mutation_p.H325Y|LOC100506025_uc003stf.3_Intron|LOC100506025_uc022aae.1_Intron	NM_001101426	NP_001094896	A4D126	ISPD_HUMAN	Homo sapiens isoprenoid synthase domain containing (ISPD), transcript variant 1, mRNA.	375					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						TCAAGAAAATGAACCTGCAAA	0.299000										Multiple Myeloma(15;0.18)				31			5		0	0	0.000602214	0	0
RYR2	6262	broad.mit.edu	37	1	237972297	237972297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:237972297G>A	uc001hyl.1	+	99	14515	c.14395G>A	c.(14395-14397)Ggt>Agt	p.G4799S	RYR2_uc010pyb.1_Missense_Mutation_p.G232S	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4799					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAGTGAAGATGGTGATACACC	0.363000														230			53		0	0	0.000781405	0	0
PILRB	29990	broad.mit.edu	37	7	99955936	99955936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:99955936C>T	uc022aim.1	+	5	1083	c.11C>T	c.(10-12)cCc>cTc	p.P4L	PILRB_uc003uum.1_Non-coding_Transcript|PILRB_uc003uun.3_Missense_Mutation_p.P4L	NM_178238	NP_839956	Q9UKJ0	PILRB_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor beta (PILRB), transcript variant 3, mRNA.	4					activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATGGGTCGGCCCCTGCTGCTG	0.667000														101			13		0	0	0.000566183	0	0
MAN2B2	23324	broad.mit.edu	37	4	6607052	6607052	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:6607052G>A	uc003gjf.1	+	10	1846	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K	MAN2B2_uc003gje.1_Missense_Mutation_p.E604K|MAN2B2_uc011bwf.1_Missense_Mutation_p.E553K	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	604					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CAGCATCTGGGAGAGGTAAGG	0.582000														25			5		0	0	0.00198382	0	0
ATP6V1E2	90423	broad.mit.edu	37	2	46739428	46739428	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:46739428G>A	uc021vgv.1	-	0	423	c.423C>T	c.(421-423)ctC>ctT	p.L141L	ATP6V1E2_uc002ruy.3_Silent_p.L141L	NM_080653	NP_542384	Q96A05	VATE2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2 (ATP6V1E2), mRNA.	141					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism	p.L141L(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			CCACCAGGAGGAGGTCTTGTG	0.547000														50			8		0	0	0.000157383	0	0
ODZ1	10178	broad.mit.edu	37	X	123519762	123519762	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:123519762C>T	uc010nqy.3	-	28	5905	c.5841G>A	c.(5839-5841)ccG>ccA	p.P1947P	ODZ1_uc011muj.2_Silent_p.P1946P|ODZ1_uc004euj.3_Silent_p.P1940P	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1940					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						TGCTACTGTCCGGTGGGGTGT	0.507000														16			6		0	0	0.00198382	0	0
WRAP53	55135	broad.mit.edu	37	17	7605007	7605007	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7605007C>T	uc010vuh.2	+	6	1010	c.855C>T	c.(853-855)ttC>ttT	p.F285F	WRAP53_uc010vui.2_Silent_p.F285F|WRAP53_uc002gip.3_Silent_p.F285F|WRAP53_uc002gir.3_Silent_p.F285F|WRAP53_uc002giq.3_Non-coding_Transcript|WRAP53_uc010cnl.3_Silent_p.F252F|WRAP53_uc010vuj.2_Silent_p.F66F	NM_001143990	NP_060551	Q9BUR4	WAP53_HUMAN	Homo sapiens WD repeat containing, antisense to TP53 (WRAP53), transcript variant 2, mRNA.	285					positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	RNA binding|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						CGCTCTGCTTCTCCCCGGATG	0.612000														30			8		0	0	0.000274275	0	0
OR6C2	341416	broad.mit.edu	37	12	55846822	55846822	+	Silent	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:55846822T>C	uc001sgz.1	+	0	825	c.825T>C	c.(823-825)ctT>ctC	p.L275L		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						TTTCAGTTCTTACTACTTCTG	0.413000														20			5		0	0	0.000602214	0	0
CNTN6	27255	broad.mit.edu	37	3	1262427	1262427	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:1262427C>T	uc003boz.3	+	2	379	c.112C>T	c.(112-114)Cct>Tct	p.P38S	CNTN6_uc010hbo.2_Missense_Mutation_p.P33S|CNTN6_uc011asj.2_5'UTR|CNTN6_uc003bpa.3_Missense_Mutation_p.P38S	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	38	Ig-like C2-type 1.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TGTCATTTTTCCTTTGGATTT	0.398000														36			12		0	0	0.000978159	0	0
ANKS1B	56899	broad.mit.edu	37	12	99145163	99145163	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:99145163G>A	uc001tge.2	-	24	4059	c.3642C>T	c.(3640-3642)ccC>ccT	p.P1214P	ANKS1B_uc001tgf.2_Silent_p.P730P|ANKS1B_uc001tgk.3_Silent_p.P511P|ANKS1B_uc010svd.2_Silent_p.P220P|ANKS1B_uc001tgd.2_Silent_p.P380P|ANKS1B_uc009ztp.3_Silent_p.P245P|ANKS1B_uc010svf.2_Silent_p.P244P|ANKS1B_uc010sve.2_Silent_p.P244P|ANKS1B_uc001tgh.4_Silent_p.P220P|ANKS1B_uc009ztr.3_Silent_p.P404P|ANKS1B_uc001tgj.3_Silent_p.P380P|ANKS1B_uc001tgi.3_Silent_p.P464P|ANKS1B_uc009zts.2_Silent_p.P440P|ANKS1B_uc001tgg.4_Silent_p.P312P|ANKS1B_uc010svg.2_Silent_p.P349P	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	1214						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CGCGGGGCTTGGGGATGGGTT	0.493000														24			7		0	0	0.000157383	0	0
LINGO2	158038	broad.mit.edu	37	9	27950308	27950308	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:27950308G>A	uc003zqv.1	-	6	1012	c.362C>T	c.(361-363)cCt>cTt	p.P121L	LINGO2_uc010mjf.1_Missense_Mutation_p.P121L|LINGO2_uc003zqu.1_Missense_Mutation_p.P121L|LINGO2_uc022bfc.1_Missense_Mutation_p.P121L	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	121						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TACTCCCAAAGGGACCAGCTT	0.428000														15			11		0	0	0.00136819	0	0
RABGAP1L	9910	broad.mit.edu	37	1	174219735	174219735	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:174219735G>A	uc001gjx.3	+	5	1117	c.840G>A	c.(838-840)ttG>ttA	p.L280L	RABGAP1L_uc009wwq.2_Silent_p.L280L|RABGAP1L_uc001gjw.3_Silent_p.L243L|RABGAP1L_uc001gjy.3_5'UTR	NM_014857	NP_055672	Q5R372	RBG1L_HUMAN	Homo sapiens RAB GTPase activating protein 1-like (RABGAP1L), transcript variant 1, mRNA.	280	PID.				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						GTGTCTCCTTGGAGGTAAAAG	0.393000														53			25		0	0	0.000878237	0	0
PPL	5493	broad.mit.edu	37	16	4935871	4935871	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:4935871G>A	uc002cyd.1	-	21	2875	c.2785C>T	c.(2785-2787)Cag>Tag	p.Q929*		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	929					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACCGATTCCTGAGGCCCCTGA	0.607000														63			10		0	0	0.000673444	0	0
ATG2B	55102	broad.mit.edu	37	14	96811707	96811707	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:96811707G>A	uc001yfi.3	-	2	706	c.341C>T	c.(340-342)cCt>cTt	p.P114L		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	114										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)		CCAATACATAGGCTCAGAACC	0.338000														11			8		0	0	0.000157383	0	0
DNAH7	56171	broad.mit.edu	37	2	196883959	196883959	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:196883959C>T	uc002utj.4	-	8	905	c.804G>A	c.(802-804)agG>agA	p.R268R		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	268	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCAAGTGATCCCTAATATAAC	0.338000														86			15		0	0	0.000422831	0	0
UBD	10537	broad.mit.edu	37	6	29524025	29524025	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:29524025G>A	uc003nmo.3	-	1	354	c.130C>T	c.(130-132)Cct>Tct	p.P44S	GABBR1_uc003nmp.4_3'UTR	NM_006398	NP_006389	O15205	UBD_HUMAN	Homo sapiens ubiquitin D (UBD), mRNA.	44	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of apoptosis|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding	p.P44S(2)		kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TCCTGCACAGGAACCTTGGTC	0.468000														56			12		0	0	0.00185496	0	0
DNAH8	1769	broad.mit.edu	37	6	38883028	38883028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:38883028G>A	uc021yzh.1	+	67	10124	c.10015G>A	c.(10015-10017)Gaa>Aaa	p.E3339K	DNAH8_uc003ooe.2_Missense_Mutation_p.E3122K|LOC100131047_uc003oof.2_Intron	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						AATTAAAAATGAAGTACAGGA	0.393000														47			5		0	0	0.00116845	0	0
TPTE2	93492	broad.mit.edu	37	13	20006662	20006662	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:20006662A>G	uc001umd.3	-	16	1384	c.1173T>C	c.(1171-1173)ccT>ccC	p.P391P	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Silent_p.P280P|TPTE2_uc001ume.3_Silent_p.P314P|TPTE2_uc009zzm.3_Silent_p.P62P|TPTE2_uc010tcm.2_Non-coding_Transcript|TPTE2_uc010tcl.2_Silent_p.P62P	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	391						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCCGTCTTGGAGGGAGATTCC	0.373000														31			4		0	0	0.000602214	0	0
SCN8A	6334	broad.mit.edu	37	12	52162718	52162718	+	Missense_Mutation	SNP	G	A	A	rs80261247		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:52162718G>A	uc001ryw.3	+	16	3149	c.2971G>A	c.(2971-2973)Gat>Aat	p.D991N	SCN8A_uc010snl.2_Missense_Mutation_p.D991N	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	991					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CACAGATGACGATGGGGAAAT	0.507000														18			6		0	0	0.000274275	0	0
TRANK1	9881	broad.mit.edu	37	3	36873921	36873921	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:36873921C>T	uc003cgj.3	-	20	7269	c.7021G>A	c.(7021-7023)Ggg>Agg	p.G2341R		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2341					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						CCAAATTTCCCTTCTATTCCT	0.483000														59			14		0	0	0.00185496	0	0
SPTA1	6708	broad.mit.edu	37	1	158617340	158617340	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158617340G>A	uc001fst.1	-	26	4084	c.3885C>T	c.(3883-3885)ctC>ctT	p.L1295L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1295					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)					TGGCCTTGCTGAGGAACAGGT	0.527000														30			7		0	0	0.000274275	0	0
ABTB1	80325	broad.mit.edu	37	3	127396377	127396377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:127396377G>A	uc003ejt.3	+	8	920	c.832G>A	c.(832-834)Gtg>Atg	p.V278M	ABTB1_uc003ejr.3_Missense_Mutation_p.V136M|ABTB1_uc003ejs.3_Missense_Mutation_p.V253M|ABTB1_uc003eju.3_Missense_Mutation_p.V136M|ABTB1_uc010hsm.3_Intron	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 1 (ABTB1), transcript variant 2, mRNA.	278	BTB 2.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						CTGCTTCCGAGTGGCTGGCTG	0.632000														47			12		0	0	0.000308642	0	0
USP31	57478	broad.mit.edu	37	16	23080496	23080496	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:23080496G>A	uc002dll.3	-	15	2930	c.2930C>T	c.(2929-2931)cCc>cTc	p.P977L	USP31_uc002dlk.3_Missense_Mutation_p.P249L|USP31_uc010vca.2_Missense_Mutation_p.P280L|USP31_uc010bxm.3_Missense_Mutation_p.P265L	NM_020718	NP_065769	Q70CQ4	UBP31_HUMAN	Homo sapiens ubiquitin specific peptidase 31 (USP31), mRNA.	977	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		AGAGAGCGGGGGCAGGCGGTC	0.522000														59			14		0	0	0.000422831	0	0
CCDC93	54520	broad.mit.edu	37	2	118766198	118766198	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:118766198A>G	uc002tlj.3	-	1	247	c.79T>C	c.(79-81)Ttg>Ctg	p.L27L	CCDC93_uc010fld.2_Silent_p.L83L	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	Homo sapiens coiled-coil domain containing 93 (CCDC93), mRNA.	27										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						ATTTCAGTCAACTTGACATTT	0.378000											OREG0003819	type=REGULATORY REGION|Gene=AK025611|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		82			42		0	0	0.000781405	0	0
DGCR8	54487	broad.mit.edu	37	22	20073939	20073940	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:20073939_20073940CC>TT	uc002zri.3	+	1	882_883	c.453_454CC>TT	c.(451-456)ctcctt>ctTTtt	p.L152F	DGCR8_uc010grz.3_Missense_Mutation_p.L152F|DGCR8_uc002zrj.3_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	152	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GCGGTCTGCTCCTTAGCCCTGT	0.579000														62			15		0	0	6.4e-05	0	0
OR2H1	26716	broad.mit.edu	37	6	29430158	29430158	+	Silent	SNP	C	T	T	rs144363872	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:29430158C>T	uc003nmi.3	+	2	1055	c.612C>T	c.(610-612)ttC>ttT	p.F204F	OR2H1_uc003nmj.1_Silent_p.F204F|OR2H1_uc010jri.2_Silent_p.F126F|OR2H1_uc021ytr.1_Silent_p.F204F	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						GTGTCATCTTCGTGGTTGTGC	0.502000														128			21		0	0	0.00278032	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553662	140553662	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140553662G>A	uc003lit.3	+	0	1420	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	416	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGAACACTGAGTACAACAT	0.517000														30			12		0	0	0.000978159	0	0
LAMB1	3912	broad.mit.edu	37	7	107599799	107599799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:107599799G>A	uc003vev.2	-	17	2818	c.2657C>T	c.(2656-2658)cCa>cTa	p.P886L	LAMB1_uc003vew.2_Missense_Mutation_p.P862L	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	862	Laminin EGF-like 8.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGGCAACTTGGAAAGCCCCA	0.582000														81			8		0	0	0.000274275	0	0
RASSF5	83593	broad.mit.edu	37	1	206757851	206757851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:206757851G>A	uc001hed.3	+	3	880	c.823G>A	c.(823-825)Gac>Aac	p.D275N	RASSF5_uc001hec.1_Missense_Mutation_p.D275N|RASSF5_uc001hee.3_Missense_Mutation_p.D275N|RASSF5_uc001hef.3_Missense_Mutation_p.D122N|RASSF5_uc001heg.1_Missense_Mutation_p.D48N|RASSF5_uc021pie.1_5'Flank	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 5 (RASSF5), transcript variant 1, mRNA.	275	Ras-associating.				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GGCTACCACGGACAAGCGGAC	0.597000														48			25		0	0	0.001512	0	0
IL7	3574	broad.mit.edu	37	8	79650870	79650870	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:79650870C>T	uc003ybg.3	-	4	830	c.229_splice	c.e4-1	p.E77_splice	IL7_uc022awh.1_Splice_Site_p.E77_splice|IL7_uc022awi.1_Intron|IL7_uc022awj.1_Intron|IL7_uc003ybh.3_Splice_Site|IL7_uc003ybi.3_Splice_Site	NM_000880	NP_000871	P13232	IL7_HUMAN	Homo sapiens interleukin 7 (IL7), transcript variant 1, mRNA.	77					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						AACATACCTTCCTATTATAGG	0.353000														80			11		0	0	0.00136819	0	0
CDC73	79577	broad.mit.edu	37	1	193119437	193119437	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:193119437C>T	uc001gtb.3	+	8	1075	c.832C>T	c.(832-834)Ccc>Tcc	p.P278S		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	Homo sapiens cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CDC73), mRNA.	278					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TTTACAGGATCCCACTTTGCG	0.383000														62			9		0	0	0.000442599	0	0
GABRA6	2559	broad.mit.edu	37	5	161116152	161116152	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:161116152T>G	uc003lyu.2	+	3	761	c.423T>G	c.(421-423)aaT>aaG	p.N141K	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	141					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)	TAATGCAGAATGGAACCATTT	0.373000										TCGA Ovarian(5;0.080)				27			6		0	0	0.00198382	0	0
ZNF195	7748	broad.mit.edu	37	11	3380778	3380779	+	Missense_Mutation	DNP	GT	AC	AC			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:3380778_3380779GT>AC	uc001lxt.3	-	5	1641_1642	c.1459_1460AC>GT	c.(1459-1461)act>GTt	p.T487V	ZNF195_uc010qxr.2_Missense_Mutation_p.T468V|ZNF195_uc009ydz.3_Missense_Mutation_p.T442V|ZNF195_uc001lxu.3_Missense_Mutation_p.T419V|ZNF195_uc001lxv.3_Missense_Mutation_p.T464V|ZNF195_uc021qck.1_Missense_Mutation_p.T419V|ZNF195_uc001lxs.3_Missense_Mutation_p.T415V	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA.	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		TTCAGAATGAGTTCTCTTATGG	0.431000														44			47		0	0	6.4e-05	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315406	30315406	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:30315406G>A	uc009xle.2	-	2	3808	c.3671C>T	c.(3670-3672)cCa>cTa	p.P1224L	KIAA1462_uc001iux.3_Missense_Mutation_p.P1224L|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.P1086L	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1224										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGCCACACTTGGGGTTCTTTC	0.488000														57			32		0	0	0.00058488	0	0
C2orf63	130162	broad.mit.edu	37	2	55449462	55449462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:55449462C>T	uc002ryi.2	-	2	432	c.86G>A	c.(85-87)aGa>aAa	p.R29K	C2orf63_uc002ryh.2_5'UTR|C2orf63_uc002ryj.2_Intron	NM_152385	NP_001129070	Q8NHS4	CB063_HUMAN	Homo sapiens chromosome 2 open reading frame 63 (C2orf63), transcript variant 1, mRNA.	29							binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)			AATTATGTATCTTTGCACACT	0.348000														110			31		0	0	0.00058488	0	0
HLA-DOA	3111	broad.mit.edu	37	6	32977250	32977250	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:32977250C>T	uc003ocr.3	-	0	140	c.64G>A	c.(64-66)Gag>Aag	p.E22K	HLA-DOA_uc010juj.3_5'UTR|HLA-DOA_uc010jui.3_Missense_Mutation_p.E22K	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	22					T cell costimulation|T cell receptor signaling pathway|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway	MHC class II protein complex|endosome membrane|integral to membrane|lysosomal membrane	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GCCCCTGCCTCCTGCGGGCTC	0.612000														23			5		0	0	0.000602214	0	0
DMBT1	1755	broad.mit.edu	37	10	124358388	124358388	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:124358388G>A	uc001lgk.1	+	25	3161	c.3055G>A	c.(3055-3057)Gat>Aat	p.D1019N	DMBT1_uc001lgl.1_Missense_Mutation_p.D1009N|DMBT1_uc001lgm.1_Missense_Mutation_p.D520N|DMBT1_uc021qaf.1_Missense_Mutation_p.D1019N|DMBT1_uc021qag.1_Missense_Mutation_p.D1009N|DMBT1_uc021qah.1_Missense_Mutation_p.D520N|DMBT1_uc009xzz.1_Missense_Mutation_p.D1019N|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_5'UTR	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1019	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.D1019N(4)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CACCGTGTGCGATGACAGCTG	0.602000														104			35		0	0	0.00283554	0	0
PCLO	27445	broad.mit.edu	37	7	82583700	82583700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:82583700G>A	uc003uhx.2	-	4	6858	c.6569C>T	c.(6568-6570)tCg>tTg	p.S2190L	PCLO_uc003uhv.2_Missense_Mutation_p.S2190L|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2121					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						GGTACAGACCGAAGAAACAGA	0.443000														45			8		0	0	0.000673444	0	0
TRIM55	84675	broad.mit.edu	37	8	67062683	67062683	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:67062683G>A	uc003xvv.3	+	6	1193	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	TRIM55_uc003xvu.3_Missense_Mutation_p.E323K|TRIM55_uc003xvw.3_Missense_Mutation_p.E323K|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	323	COS.					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding	p.R322H(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GATAATACGTGAAATTGACTT	0.423000														63			17		0	0	0.000958276	0	0
GRM7	2917	broad.mit.edu	37	3	7340486	7340486	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:7340486G>A	uc003bqm.2	+	2	1126	c.852G>A	c.(850-852)gtG>gtA	p.V284V	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Silent_p.V284V|GRM7_uc003bql.2_Silent_p.V284V|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	284					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGGCCGTCGTGATTTTTGCCA	0.453000														22			8		0	0	0.000274275	0	0
TIAM1	7074	broad.mit.edu	37	21	32492714	32492715	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:32492714_32492715GG>AA	uc002yow.1	-	28	5219_5220	c.4747_4748CC>TT	c.(4747-4749)ccc>TTc	p.P1583F	TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.P1523F	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	1583					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TTTCCTGGAGGGGGCAAAGTCT	0.559000														11			6		0	0	6.4e-05	0	0
XKR4	114786	broad.mit.edu	37	8	56436505	56436505	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:56436505G>A	uc003xsf.3	+	2	1704	c.1672G>A	c.(1672-1674)Gac>Aac	p.D558N		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	558						integral to membrane		p.S557S(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TGTTGTCAGCGACCGCGATCA	0.587000														44			9		0	0	0.000978159	0	0
LGSN	51557	broad.mit.edu	37	6	63990034	63990034	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:63990034C>T	uc003peh.3	-	3	1456	c.1422G>A	c.(1420-1422)caG>caA	p.Q474Q	LGSN_uc003pei.3_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	474					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)	CTCCTAGAGCCTGTCTCAGGC	0.393000														73			19		0	0	0.00121646	0	0
CYP11B1	1584	broad.mit.edu	37	8	143958228	143958228	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:143958228G>A	uc010mey.3	-	5	889	c.882C>T	c.(880-882)ttC>ttT	p.F294F	CYP11B1_uc010mex.3_5'Flank|CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Silent_p.F223F|CYP11B1_uc003yxj.3_Silent_p.F223F	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	223					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.L294M(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GGGCATGGAGGAAGTTCAGGC	0.607000									Familial Hyperaldosteronism type I					36			10		0	0	0.000308642	0	0
ZNF208	7757	broad.mit.edu	37	19	22156932	22156932	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:22156932T>G	uc021urr.1	-	3	1053	c.904A>C	c.(904-906)Aca>Cca	p.T302P	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCCTTATGTGTAGTAAGAGTC	0.388000														32			7		0	0	0.00198382	0	0
SLC14A2	8170	broad.mit.edu	37	18	43249278	43249278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:43249278C>T	uc002lbe.3	+	15	2860	c.2044C>T	c.(2044-2046)Ctc>Ttc	p.L682F	SLC14A2_uc010dnj.3_Missense_Mutation_p.L682F	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	682						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						CAGCCCCATCCTCTCCAGTGC	0.572000														66			7		0	0	0.000157383	0	0
TAS1R1	80835	broad.mit.edu	37	1	6631005	6631005	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:6631005C>T	uc001ant.3	+	1	324	c.228C>T	c.(226-228)ttC>ttT	p.F76F	TAS1R1_uc001anu.3_Silent_p.F76F|TAS1R1_uc021ofp.1_5'UTR	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	76					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		ACCACCTCTTCCAGGCTATGC	0.547000														50			11		0	0	0.00136819	0	0
BCAT1	586	broad.mit.edu	37	12	25031487	25031487	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:25031487G>A	uc001rgd.4	-	4	1014	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	BCAT1_uc001rgc.3_Missense_Mutation_p.R162C|BCAT1_uc010six.2_Missense_Mutation_p.R175C|BCAT1_uc010siy.2_Missense_Mutation_p.R126C|BCAT1_uc001rge.4_Missense_Mutation_p.R102C	NM_005504	NP_005495	P54687	BCAT1_HUMAN	Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 1, mRNA.	163					G1/S transition of mitotic cell cycle|branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	AATGTAGGACGAATATACAGA	0.373000														35			11		0	0	0.00185496	0	0
IL31RA	133396	broad.mit.edu	37	5	55212650	55212650	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:55212650G>A	uc003jql.3	+	14	2189	c.1997G>A	c.(1996-1998)gGg>gAg	p.G666E	IL31RA_uc003jqm.3_Missense_Mutation_p.G647E|IL31RA_uc003jqn.3_Missense_Mutation_p.G666E|IL31RA_uc021xyq.1_Missense_Mutation_p.G647E|IL31RA_uc003jqo.3_Missense_Mutation_p.G524E	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	634					JAK-STAT cascade|MAPKKK cascade|anti-apoptosis|defense response|homeostatic process|macrophage differentiation|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				AATTTAGGAGGGGAAAAGAAT	0.473000														24			10		0	0	0.000442599	0	0
HTR3C	170572	broad.mit.edu	37	3	183777335	183777335	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:183777335C>T	uc003fmk.3	+	6	866	c.832C>T	c.(832-834)Cgt>Tgt	p.R278C		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	278						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GAGCGAGAATCGTGCCCCATT	0.547000														59			18		0	0	0.00152264	0	0
CCR5	1234	broad.mit.edu	37	3	46415067	46415067	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:46415067G>A	uc003cpo.4	+	2	796	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	CCR5_uc010hjd.3_Missense_Mutation_p.R225Q|CCR5_uc021wxb.1_Missense_Mutation_p.R225Q	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	225					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity	p.R225Q(2)|p.R225R(1)		central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	CTTCGGTGTCGAAATGAGAAG	0.463000														150			38		0	0	0.000814825	0	0
CDC20B	166979	broad.mit.edu	37	5	54429251	54429251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:54429251C>T	uc003jpo.2	-	5	863	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	CDC20B_uc003jpn.2_Missense_Mutation_p.R229Q|CDC20B_uc010ivu.2_Missense_Mutation_p.R229Q|CDC20B_uc010ivv.2_Missense_Mutation_p.R229Q	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	229								p.R229*(1)		kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GTAGTCATTTCGAAGACCAGT	0.343000														55			14		0	0	0.00185496	0	0
SLC17A1	6568	broad.mit.edu	37	6	25801130	25801130	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:25801130C>T	uc003nfh.4	-	10	1373	c.1257G>A	c.(1255-1257)ttG>ttA	p.L419L	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Silent_p.L419L|SLC17A1_uc010jqc.1_Silent_p.L363L	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	419					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						GCTTAAGGATCAATCCAGTCA	0.308000														142			19		0	0	0.00152264	0	0
OR5H2	79310	broad.mit.edu	37	3	98002086	98002086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:98002086C>T	uc003dsj.1	+	0	355	c.355C>T	c.(355-357)Ctc>Ttc	p.L119F		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L119I(2)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AGAATGTTTTCTCTTGGCAAC	0.363000														47			14		0	0	0.00185496	0	0
RNF17	56163	broad.mit.edu	37	13	25367433	25367433	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:25367433G>A	uc001upr.3	+	9	1230	c.1189G>A	c.(1189-1191)Gga>Aga	p.G397R	RNF17_uc010tdd.1_Missense_Mutation_p.G256R|RNF17_uc010tde.2_Missense_Mutation_p.G397R|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.G336R|RNF17_uc001upq.1_Missense_Mutation_p.G397R	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	397					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACCTCAGATGGGATCTAGCCC	0.378000														54			19		0	0	0.00229938	0	0
TET1	80312	broad.mit.edu	37	10	70332628	70332628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:70332628C>T	uc001jok.4	+	1	1038	c.533C>T	c.(532-534)cCc>cTc	p.P178L		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	178					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						GTACAAAATCCCTCTTTACTT	0.448000														42			11		0	0	0.00185496	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806295	97806295	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:97806295G>A	uc011bgs.2	+	0	279	c.279G>A	c.(277-279)atG>atA	p.M93I		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						AGACTGCAATGATATCCCTAG	0.438000														73			23		0	0	0.00229938	0	0
CACNA1G	8913	broad.mit.edu	37	17	48683300	48683300	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:48683300C>T	uc002irk.1	+	22	4710	c.4338C>T	c.(4336-4338)acC>acT	p.T1446T	CACNA1G_uc002iri.1_Silent_p.T1446T|CACNA1G_uc002irj.1_Silent_p.T1423T|CACNA1G_uc002irl.1_Silent_p.T1423T|CACNA1G_uc002irm.1_Silent_p.T1423T|CACNA1G_uc002irn.1_Silent_p.T1423T|CACNA1G_uc002iro.1_Silent_p.T1423T|CACNA1G_uc002irp.1_Silent_p.T1446T|CACNA1G_uc002irq.1_Silent_p.T1423T|CACNA1G_uc002irr.1_Silent_p.T1446T|CACNA1G_uc002irs.1_Silent_p.T1446T|CACNA1G_uc002irt.1_Silent_p.T1446T|CACNA1G_uc002iru.1_Silent_p.T1423T|CACNA1G_uc002irv.1_Silent_p.T1446T|CACNA1G_uc002irw.1_Silent_p.T1423T|CACNA1G_uc002irx.1_Silent_p.T1359T|CACNA1G_uc002iry.1_Silent_p.T1359T|CACNA1G_uc002isg.1_Silent_p.T1359T|CACNA1G_uc002ish.1_Silent_p.T1359T|CACNA1G_uc002isi.1_Silent_p.T1336T|CACNA1G_uc002irz.1_Silent_p.T1359T|CACNA1G_uc002isa.1_Silent_p.T1359T|CACNA1G_uc002isd.1_Silent_p.T1359T|CACNA1G_uc002isb.1_Silent_p.T1359T|CACNA1G_uc002isc.1_Silent_p.T1359T|CACNA1G_uc002ise.1_Silent_p.T1359T|CACNA1G_uc002isf.1_Silent_p.T1359T|CACNA1G_uc002isj.3_Silent_p.T170T	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1446					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GCGAGGATACCAGGAACATCA	0.547000														36			6		0	0	0.00198382	0	0
OXA1L	5018	broad.mit.edu	37	14	23235899	23235899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:23235899C>T	uc001wgn.2	+	0	169	c.169C>T	c.(169-171)Ctt>Ttt	p.L57F	OXA1L_uc010tnc.2_Missense_Mutation_p.L57F|OXA1L_uc001wgp.2_5'Flank	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	Homo sapiens oxidase (cytochrome c) assembly 1-like (OXA1L), nuclear gene encoding mitochondrial protein, mRNA.	0					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AGCAAGTCCTCTTCCGGGCAA	0.607000														56			15		0	0	0.000422831	0	0
MECOM	2122	broad.mit.edu	37	3	168807896	168807896	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:168807896C>T	uc011bpj.1	-	14	3696	c.3293G>A	c.(3292-3294)gGa>gAa	p.G1098E	MECOM_uc010hwk.1_Missense_Mutation_p.G924E|MECOM_uc003ffj.3_Missense_Mutation_p.G975E|MECOM_uc003ffi.3_Missense_Mutation_p.G910E|MECOM_uc011bpi.1_Missense_Mutation_p.G902E|MECOM_uc003ffn.3_Missense_Mutation_p.G910E|MECOM_uc003ffk.2_Missense_Mutation_p.G901E|MECOM_uc003ffl.2_Missense_Mutation_p.G1061E|MECOM_uc011bpk.1_Missense_Mutation_p.G910E	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCCTGTTTTTCCAGTAATATC	0.418000														46			29		0	0	0.00283554	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995273	140995273	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:140995273C>T	uc004fbt.3	+	3	2407	c.2083C>T	c.(2083-2085)Cct>Tct	p.P695S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.P354S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	695							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCAAATTCCTCAGAGTCC	0.562000										HNSCC(15;0.026)				25			9		0	0	0.000442599	0	0
TSHR	7253	broad.mit.edu	37	14	81554364	81554364	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:81554364A>G	uc001xvd.1	+	3	540	c.384A>G	c.(382-384)ctA>ctG	p.L128L	TSHR_uc001xvb.1_Silent_p.L128L|TSHR_uc001xvc.3_Silent_p.L128L|TSHR_uc010tvs.2_Silent_p.L128L	NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	128					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCCCCCTCCTAAAGTTCCTGT	0.438000			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism							12			4		0	0	0.000602214	0	0
ADAM28	10863	broad.mit.edu	37	8	24187543	24187543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:24187543G>A	uc003xdy.3	+	10	1101	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K	ADAM28_uc003xdx.3_Missense_Mutation_p.E340K|ADAM28_uc011kzz.2_Missense_Mutation_p.E107K|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.E27K	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	340	Peptidase M12B.				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)		AATGGCACATGAAATGGGCCA	0.408000														47			13		0	0	0.000422831	0	0
MUC5B	727897	broad.mit.edu	37	11	1270362	1270362	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:1270362G>A	uc001lta.3	+	30	12311	c.12252G>A	c.(12250-12252)acG>acA	p.T4084T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4084	7 X Cys-rich subdomain repeats.|Thr-rich.				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)		CCCCAGGGACGACCACCCCGG	0.706000														32			11		0	0	0.00136819	0	0
KRT24	192666	broad.mit.edu	37	17	38859483	38859483	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:38859483G>A	uc002hvd.3	-	0	520	c.463C>T	c.(463-465)Cta>Tta	p.L155L		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	Homo sapiens keratin 24 (KRT24), mRNA.	155	Coil 1A.|Rod.					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)				ACCTTGTCTAGGTAATTGGCC	0.527000														151			27		0	0	0.00127121	0	0
UBE2U	148581	broad.mit.edu	37	1	64672524	64672524	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:64672524C>T	uc001dbn.1	+	2	470	c.226C>T	c.(226-228)Ccg>Tcg	p.P76S		NM_152489	NP_689702	Q5VVX9	UBE2U_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2U (putative) (UBE2U), mRNA.	76							ATP binding|protein binding|ubiquitin-protein ligase activity	p.P76L(1)		large_intestine(3)|lung(2)|skin(1)	6						TATAACAATTCCGTTTCATCC	0.289000														47			9		0	0	0.000442599	0	0
KIAA1804	84451	broad.mit.edu	37	1	233514709	233514709	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:233514709G>A	uc001hvt.4	+	8	2218	c.1957G>A	c.(1957-1959)Gga>Aga	p.G653R	KIAA1804_uc001hvu.4_Missense_Mutation_p.G99R	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	653					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				TTCCCCTGATGGATTAGAACA	0.378000														72			11		0	0	0.000978159	0	0
PDE8B	8622	broad.mit.edu	37	5	76506853	76506853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:76506853G>A	uc003kfa.3	+	0	148	c.103G>A	c.(103-105)Ggc>Agc	p.G35S	PDE8B_uc003kfd.3_Missense_Mutation_p.G35S|PDE8B_uc003kfe.3_Missense_Mutation_p.G35S|PDE8B_uc003kfb.3_Missense_Mutation_p.G35S|PDE8B_uc003kfc.3_Missense_Mutation_p.G35S	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	35					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CGTGTCGCAGGGCCCGGCGGC	0.756000														29			12		0	0	0.000566183	0	0
RP1	6101	broad.mit.edu	37	8	55541384	55541384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:55541384C>T	uc003xsd.1	+	3	5090	c.4942C>T	c.(4942-4944)Cct>Tct	p.P1648S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1648					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.P1648fs*62(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATCTTTTTTTCCTGGGTCTAC	0.378000														105			20		0	0	0.00121646	0	0
MYNN	55892	broad.mit.edu	37	3	169492152	169492152	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:169492152C>T	uc003ffu.3	+	2	565	c.69C>T	c.(67-69)ctC>ctT	p.L23L	MYNN_uc011bpm.2_5'UTR|MYNN_uc003fft.3_Silent_p.L23L|MYNN_uc003ffv.3_5'UTR|MYNN_uc010hwo.3_Silent_p.L23L	NM_001185118	NP_061127	Q9NPC7	MYNN_HUMAN	Homo sapiens myoneurin (MYNN), transcript variant 2, mRNA.	23						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		Epithelial(2;4.03e-64)|all cancers(2;2.19e-58)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CAGGTTTTCTCTGTGACTGTA	0.428000														80			31		0	0	0.00178596	0	0
SFTPD	6441	broad.mit.edu	37	10	81697911	81697911	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:81697911C>T	uc001kbh.3	-	7	868	c.825G>A	c.(823-825)acG>acA	p.T275T		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	275	C-type lectin.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of T cell proliferation|negative regulation of interleukin-2 biosynthetic process|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			GCTGTGCCTCCGTAAATGGTT	0.532000														38			15		0	0	0.00074312	0	0
GABRG1	2565	broad.mit.edu	37	4	46043062	46043062	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:46043062G>A	uc003gxb.3	-	8	1493	c.1341C>T	c.(1339-1341)ttC>ttT	p.F447F		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	447					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AAGCGGTTGGGAAAAATATTC	0.368000														23			4		0	0	0.00024832	0	0
ZNF549	256051	broad.mit.edu	37	19	58050249	58050249	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:58050249A>G	uc002qpb.2	+	3	2126	c.1877A>G	c.(1876-1878)tAt>tGt	p.Y626C	ZNF549_uc002qpa.2_Missense_Mutation_p.Y613C	NM_001199295	NP_001186224	Q6P9A3	ZN549_HUMAN	Homo sapiens zinc finger protein 549 (ZNF549), transcript variant 1, mRNA.	626					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AACAAAAGATATTCCCTTGTC	0.418000														34			19		0	0	0.00152264	0	0
DNAH9	1770	broad.mit.edu	37	17	11572799	11572799	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:11572799C>T	uc002gne.3	+	16	3109	c.3041C>T	c.(3040-3042)tCg>tTg	p.S1014L	DNAH9_uc010coo.3_Missense_Mutation_p.S308L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1014	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGCCAGTATTCGTACCTCTAT	0.527000														19			33		0	0	0.000692331	0	0
UBAP2L	9898	broad.mit.edu	37	1	154218811	154218811	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:154218811C>T	uc001fep.4	+	10	1141	c.974C>T	c.(973-975)tCa>tTa	p.S325L	UBAP2L_uc009wot.3_Missense_Mutation_p.S325L|UBAP2L_uc010pek.2_Missense_Mutation_p.S317L|UBAP2L_uc010pel.2_Missense_Mutation_p.S335L|UBAP2L_uc010pen.2_Missense_Mutation_p.S239L	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.	325					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACTGCCATATCACAGCCTGCT	0.458000														111			14		0	0	0.000566183	0	0
GEMIN5	25929	broad.mit.edu	37	5	154271173	154271173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:154271173G>A	uc003lvx.3	-	25	3973	c.3890C>T	c.(3889-3891)cCa>cTa	p.P1297L	GEMIN5_uc011ddk.1_Missense_Mutation_p.P1296L	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	1297					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTGGAATTTGGGCAAGGTCT	0.502000														30			15		0	0	0.000422831	0	0
EPB42	2038	broad.mit.edu	37	15	43500504	43500504	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:43500504C>T	uc001zrb.4	-	7	1389	c.1089G>A	c.(1087-1089)tgG>tgA	p.W363*	EPB42_uc001zqz.4_5'UTR|EPB42_uc001zra.4_Nonsense_Mutation_p.W333*|EPB42_uc010udm.2_Nonsense_Mutation_p.W255*	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	333					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		all_cancers(109;1.37e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GCCGCGTCATCCAGCACTCTG	0.527000														19			4		0	0	0.00024832	0	0
MARCO	8685	broad.mit.edu	37	2	119750850	119750850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:119750850G>A	uc002tln.1	+	15	1535	c.1403G>A	c.(1402-1404)gGa>gAa	p.G468E	MARCO_uc010yyf.1_Missense_Mutation_p.G390E	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	468	SRCR.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			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						TACTCCAAAGGAAGGGCCCTG	0.547000														35			19		0	0	0.00188189	0	0
DSEL	92126	broad.mit.edu	37	18	65179113	65179113	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:65179113G>A	uc002lke.1	-	1	3987	c.2763C>T	c.(2761-2763)atC>atT	p.I921I	DSEL_uc021ulg.1_Silent_p.I921I	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	911						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GCCCACTGCGGATATCTGACA	0.433000														30			53		0	0	0.000781405	0	0
SYTL2	54843	broad.mit.edu	37	11	85420375	85420375	+	Splice_Site	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:85420375G>A	uc010rth.2	-	12	2389	c.2000_splice	c.e12+1	p.P667_splice	SYTL2_uc010rtg.2_Splice_Site_p.P668_splice|SYTL2_uc010rti.2_Splice_Site_p.P643_splice|SYTL2_uc010rtj.2_Splice_Site_p.P635_splice|SYTL2_uc001pav.3_Splice_Site_p.P109_splice|SYTL2_uc010rte.2_Splice_Site_p.P69_splice|SYTL2_uc001pax.3_Splice_Site_p.P109_splice|SYTL2_uc001paz.3_Splice_Site|SYTL2_uc001pay.3_Splice_Site_p.P98_splice|SYTL2_uc001paw.3_Splice_Site_p.P69_splice|SYTL2_uc009yvj.3_Splice_Site|SYTL2_uc001pbd.3_Splice_Site_p.P965_splice|SYTL2_uc001pbb.3_Splice_Site_p.P1005_splice|SYTL2_uc001pbc.3_Splice_Site_p.P989_splice|SYTL2_uc010rtf.2_Splice_Site_p.P485_splice	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	667	C2 1.				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)		TGTACTTACGGGTCTGAACGC	0.418000														73			36		0	0	0.00195071	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35144271	35144271	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:35144271C>T	uc003teq.1	-	17	1944	c.837G>A	c.(835-837)ttG>ttA	p.L279L	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		GAGAGCATATCAAGGAAGCCA	0.378000														56			8		0	0	0.000157383	0	0
S100Z	170591	broad.mit.edu	37	5	76171324	76171325	+	Splice_Site	DNP	CG	AT	AT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:76171324_76171325CG>AT	uc003kep.1	+	3	471	c.141_splice	c.e3+1	p.S47_splice	S100Z_uc003keq.4_Splice_Site_p.S47_splice	NM_130772	NP_570128	Q8WXG8	S100Z_HUMAN	Homo sapiens S100 calcium binding protein Z (S100Z), mRNA.	47	EF-hand 1.						calcium ion binding			large_intestine(1)|ovary(1)	2		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		GAATTCCTCTCGGTGAGTCAGG	0.490000														176			7		0	0	6.4e-05	0	0
FRMPD2	143162	broad.mit.edu	37	10	49482596	49482596	+	Silent	SNP	C	T	T	rs146713674		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:49482596C>T	uc001jgi.3	-	0	346	c.15G>A	c.(13-15)acG>acA	p.T5T	FRMPD2_uc001jgj.3_5'UTR	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	5					tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTGCGTCCTTCGTTAAAGGCT	0.488000														62			14		0	0	0.00121646	0	0
BV13S6J2.1	0	broad.mit.edu	37	7	142251123	142251123	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142251123G>A	uc011ksa.2	-	0	30	c.15C>T	c.(13-15)ctC>ctT	p.L5L	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Silent_p.L5L|BV13S6J2.1_uc022ano.1_5'Flank|BV13S6J2.1_uc011ksf.2_Silent_p.L5L					SubName: Full=BV13S1J2.7 protein; Flags: Fragment;																		CACAGCACAGGAGCCTGATGC	0.547000														40			9		0	0	0.000673444	0	0
OR2V2	285659	broad.mit.edu	37	5	180582829	180582829	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:180582829G>A	uc011dhj.2	+	0	887	c.887G>A	c.(886-888)aGg>aAg	p.R296K		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGAGGAACAGGGAGGTGATG	0.607000														24			4		0	0	0.000602214	0	0
SWT1	54823	broad.mit.edu	37	1	185143738	185143738	+	Silent	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:185143738T>C	uc001grg.4	+	4	573	c.459T>C	c.(457-459)agT>agC	p.S153S	SWT1_uc001grh.4_Silent_p.S153S	NM_001105518	NP_060143	Q5T5J6	SWT1_HUMAN	Homo sapiens SWT1 RNA endoribonuclease homolog (S. cerevisiae) (SWT1), transcript variant 2, mRNA.	153										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						GCCTTAGTAGTCCTAAGATTG	0.368000														63			9		0	0	0.000442599	0	0
PCLO	27445	broad.mit.edu	37	7	82582185	82582185	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:82582185G>A	uc003uhx.2	-	4	8373	c.8084C>T	c.(8083-8085)tCc>tTc	p.S2695F	PCLO_uc003uhv.2_Missense_Mutation_p.S2695F|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2626					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						AATTGTTATGGAAATGCTGCT	0.413000														56			6		0	0	0.00116845	0	0
MDC1	9656	broad.mit.edu	37	6	30668266	30668266	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:30668266G>A	uc003nrg.4	-	14	6686	c.6246C>T	c.(6244-6246)tcC>tcT	p.S2082S	MDC1_uc003nrf.4_Silent_p.S713S	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	2082	BRCT 2.|Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TCTCCAAAGGGGAGAGGACAA	0.542000								Other conserved DNA damage response genes						121			18		0	0	0.00229938	0	0
FBXO46	23403	broad.mit.edu	37	19	46215700	46215701	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:46215700_46215701GG>AA	uc002pcz.3	-	1	1176_1177	c.1053_1054CC>TT	c.(1051-1056)ccccct>ccTTct	p.P352S	FBXO46_uc002pcy.3_Missense_Mutation_p.P352S|FBXO46_uc021uvz.1_Missense_Mutation_p.P352S	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	Homo sapiens F-box protein 46 (FBXO46), mRNA.	352							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGGGGCGGAGGGGGCGCCGGGG	0.698000														8			4		0	0	6.4e-05	0	0
TAS2R38	5726	broad.mit.edu	37	7	141672621	141672621	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:141672621G>A	uc003vwx.1	-	0	953	c.869C>T	c.(868-870)cCc>cTc	p.P290L		NM_176817	NP_789787	P59533	T2R38_HUMAN	Homo sapiens taste receptor, type 2, member 38 (TAS2R38), mRNA.	290					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					ATGCCCAGAGGGACAAGCTGC	0.532000														47			5		0	0	0.00198382	0	0
TCRDV2	0	broad.mit.edu	37	14	22932783	22932783	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:22932783G>A	uc010tms.2	+	2	468	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	TCRA_uc001wbw.2_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_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc010ajk.2_Intron|TCRA_uc001wdg.1_Intron|TCRA_uc021rpt.1_Intron|TCRA_uc010ajl.1_Intron|AV4S1_uc021rpv.1_Intron|TCRA_uc010ajo.1_Intron|TCRA_uc010ajp.1_Intron|TCRA_uc021rpw.1_Intron|TRAV38-2DV8_uc010tmr.2_Intron|AK093552_uc001wds.1_Intron|TCRA_uc001wdv.4_Intron|TCRDV2_uc001wdx.4_Missense_Mutation_p.E88K|TCRDV2_uc001wdz.4_3'UTR|TCRDV2_uc010ajt.3_3'UTR|TCRDV2_uc010aju.1_Missense_Mutation_p.E113K|TCRDV2_uc001wea.4_Missense_Mutation_p.E113K					RecName: Full=T-cell receptor delta chain C region;																		AAAACCAAAGGAAACTGAAAA	0.418000														7			4		0	0	0.000602214	0	0
COL28A1	340267	broad.mit.edu	37	7	7557443	7557443	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:7557443C>T	uc003src.1	-	6	956	c.839G>A	c.(838-840)gGa>gAa	p.G280E	COL28A1_uc011jxe.1_5'UTR|COL28A1_uc003srd.3_5'UTR	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	280					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		ACCTCTTTCTCCAGCTTCTCC	0.423000														101			18		0	0	0.00278032	0	0
PARP6	56965	broad.mit.edu	37	15	72553027	72553027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:72553027G>A	uc002auc.3	-	8	1007	c.548C>T	c.(547-549)tCt>tTt	p.S183F	PARP6_uc002aua.3_Missense_Mutation_p.S48F|PARP6_uc002aub.3_Non-coding_Transcript|PARP6_uc002aud.4_Non-coding_Transcript|PARP6_uc002auf.1_Missense_Mutation_p.S183F	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 6 (PARP6), mRNA.	183							NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						GAAACTGGGAGACCTGCAGAG	0.498000														101			14		0	0	0.00244969	0	0
HERC6	55008	broad.mit.edu	37	4	89311819	89311819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:89311819C>T	uc011cdi.2	+	3	635	c.452C>T	c.(451-453)tCg>tTg	p.S151L	HERC6_uc003hrp.1_Non-coding_Transcript|HERC6_uc011cdj.2_Missense_Mutation_p.S151L|HERC6_uc011cdk.2_Non-coding_Transcript|HERC6_uc011cdl.2_Non-coding_Transcript	NM_017912	NP_060382	Q8IVU3	HERC6_HUMAN	Homo sapiens hect domain and RLD 6 (HERC6), transcript variant 1, mRNA.	151					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		CAAGTGTTTTCGTGGGGAAAG	0.463000														18			7		0	0	0.000673444	0	0
ATP12A	479	broad.mit.edu	37	13	25272817	25272817	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:25272817G>A	uc010aaa.3	+	11	1885	c.1552G>A	c.(1552-1554)Gac>Aac	p.D518N	ATP12A_uc001upp.3_Missense_Mutation_p.D512N	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	512					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.R517L(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CGAGATGGATGACCCCCACGG	0.522000														17			5		0	0	0.000157383	0	0
MUC7	4589	broad.mit.edu	37	4	71347075	71347075	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:71347075C>T	uc011cat.2	+	3	902	c.614C>T	c.(613-615)tCc>tTc	p.S205F	MUC7_uc011cau.2_Missense_Mutation_p.S205F|MUC7_uc003hfj.3_Missense_Mutation_p.S205F	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	205	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCACCATCTTCCTCAGCTCCA	0.592000														31			22		0	0	0.00047179	0	0
CLSTN1	22883	broad.mit.edu	37	1	9804042	9804042	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:9804042G>A	uc001aqh.3	-	8	2015	c.1256C>T	c.(1255-1257)tCc>tTc	p.S419F	CLSTN1_uc001aqi.3_Missense_Mutation_p.S409F|CLSTN1_uc010oag.2_Missense_Mutation_p.S419F	NM_001009566	NP_001009566	O94985	CSTN1_HUMAN	Homo sapiens calsyntenin 1 (CLSTN1), transcript variant 1, mRNA.	419					homophilic cell adhesion	Golgi membrane|cell junction|cell projection|endoplasmic reticulum membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GACATAGAGGGAGTAGTGGTG	0.448000														63			24		0	0	0.000720815	0	0
OR6V1	346517	broad.mit.edu	37	7	142749652	142749652	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142749652C>A	uc011ksv.2	+	0	215	c.215C>A	c.(214-216)aCc>aAc	p.T72N		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					ATCTTGGTAACCATGACTGCA	0.493000														115			19		6.49762e-13	2.19708e-12	0.00074312	1	0
POGZ	23126	broad.mit.edu	37	1	151400396	151400396	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:151400396G>A	uc001eyd.2	-	6	1296	c.981C>T	c.(979-981)atC>atT	p.I327I	POGZ_uc021oyq.1_Silent_p.I274I|POGZ_uc010pdb.2_Silent_p.I318I|POGZ_uc010pdc.2_Silent_p.I265I|POGZ_uc009wmv.2_Silent_p.I232I|POGZ_uc001eyf.2_Silent_p.I274I|POGZ_uc010pdd.2_Intron|POGZ_uc001eyg.2_Silent_p.I327I	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	327					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CCAGGGAAGGGATGGTGTTAA	0.517000														42			5		0	0	0.000602214	0	0
RP1	6101	broad.mit.edu	37	8	55541395	55541395	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:55541395C>T	uc003xsd.1	+	3	5101	c.4953C>T	c.(4951-4953)acC>acT	p.T1651T	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1651					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CTGGGTCTACCCGCAAATCTC	0.378000														115			22		0	0	0.00188189	0	0
GFRA2	2675	broad.mit.edu	37	8	21560414	21560414	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:21560414T>G	uc003wzu.1	-	6	1796	c.1121A>C	c.(1120-1122)cAg>cCg	p.Q374P	GFRA2_uc003wzv.1_Missense_Mutation_p.Q269P|GFRA2_uc003wzw.1_Missense_Mutation_p.Q241P	NM_001495	NP_001486	O00451	GFRA2_HUMAN	Homo sapiens GDNF family receptor alpha 2 (GFRA2), transcript variant 1, mRNA.	374						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		CCGAGGGGCCTGGGTGGCCTG	0.627000														18			3		0	0	6.4e-05	0	0
CDC7	8317	broad.mit.edu	37	1	91977433	91977433	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:91977433C>T	uc001doe.3	+	5	690	c.525C>T	c.(523-525)caC>caT	p.H175H	CDC7_uc001dof.3_Silent_p.H175H|CDC7_uc010osw.2_Silent_p.H147H|CDC7_uc009wdc.3_Silent_p.H175H|CDC7_uc009wdd.3_5'Flank	NM_003503	NP_003494	O00311	CDC7_HUMAN	Homo sapiens cell division cycle 7 homolog (S. cerevisiae) (CDC7), transcript variant 1, mRNA.	175	Protein kinase.				DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|cell cycle checkpoint|cell division|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		GTATTGTTCACCGTGATGTTA	0.313000														30			19		0	0	0.00152264	0	0
COL21A1	81578	broad.mit.edu	37	6	56021727	56021727	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:56021727C>T	uc003pcs.3	-	9	1624	c.1392G>A	c.(1390-1392)ggG>ggA	p.G464G	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Silent_p.G464G|COL21A1_uc003pcu.1_Silent_p.G461G	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	464	Collagen-like 1.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AGCCAGGGTTCCCAGGCAGTC	0.458000														10			4		0	0	0.00024832	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52000216	52000216	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:52000216C>T	uc002pwx.1	-	6	1573	c.1517G>A	c.(1516-1518)aGg>aAg	p.R506K	SIGLEC12_uc002pww.1_Missense_Mutation_p.R388K|SIGLEC12_uc010eoy.1_Missense_Mutation_p.R233K	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	506					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CGATTTCTTCCTGCAGGACCT	0.577000														35			9		0	0	0.00136819	0	0
ODZ2	57451	broad.mit.edu	37	5	167645621	167645621	+	Silent	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:167645621T>A	uc010jjd.3	+	22	4698	c.4698T>A	c.(4696-4698)ccT>ccA	p.P1566P	ODZ2_uc003lzr.4_Silent_p.P1336P|ODZ2_uc003lzt.4_Silent_p.P939P|ODZ2_uc010jje.3_Silent_p.P830P	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AGAACAAGCCTGTTCTTAATG	0.483000														98			14		0	0	0.00244969	0	0
PPP2CB	5516	broad.mit.edu	37	8	30651770	30651770	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:30651770G>A	uc003xik.3	-	3	929	c.514C>T	c.(514-516)Cca>Tca	p.P172S		NM_001009552	NP_001009552	P62714	PP2AB_HUMAN	Homo sapiens protein phosphatase 2, catalytic subunit, beta isozyme (PPP2CB), mRNA.	172					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	TCTATGGATGGAGAGAGGCCA	0.348000														53			11		0	0	0.000308642	0	0
PUS10	150962	broad.mit.edu	37	2	61194636	61194636	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:61194636C>T	uc010fci.3	-	6	675	c.615_splice	c.e6+1	p.K205_splice	PUS10_uc002sao.3_Splice_Site_p.K205_splice|PUS10_uc010ypk.2_Splice_Site_p.R3_splice	NM_144709	NP_653310	Q3MIT2	PUS10_HUMAN	Homo sapiens pseudouridylate synthase 10 (PUS10), mRNA.	205					pseudouridine synthesis|tRNA processing		RNA binding|pseudouridine synthase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			TGACCCAATACCTTTCCATCA	0.363000														70			64		0	0	0.000781405	0	0
TRAPPC11	60684	broad.mit.edu	37	4	184598669	184598669	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:184598669C>T	uc003ivx.3	+	7	995	c.793C>T	c.(793-795)Ctg>Ttg	p.L265L	TRAPPC11_uc003ivw.3_Silent_p.L265L|TRAPPC11_uc010isc.3_Intron|U6_uc021xvd.1_5'Flank	NM_021942	NP_068761	Q7Z392	CD041_HUMAN	Homo sapiens trafficking protein particle complex 11 (TRAPPC11), transcript variant 1, mRNA.	265																	AACTAATATTCTGGAAATTAA	0.294000														81			89		0	0	0.000781405	0	0
APC	324	broad.mit.edu	37	5	112157648	112157648	+	Silent	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:112157648T>G	uc003kpz.4	+	11	1561	c.1368T>G	c.(1366-1368)ctT>ctG	p.L456L	APC_uc011cvt.2_Silent_p.L438L|APC_uc003kpy.4_Silent_p.L456L|APC_uc010jbz.3_Silent_p.L173L|APC_uc010jca.3_5'UTR	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	456	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|adherens junction|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K455fs*3(2)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TAATGAAACTTTCATTTGATG	0.323000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)				38			14		0	0	0.000422831	0	0
OR4K2	390431	broad.mit.edu	37	14	20344609	20344609	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:20344609C>T	uc001vwh.1	+	0	183	c.183C>T	c.(181-183)ttC>ttT	p.F61F		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F61C(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)		CTATGTATTTCCTGCTTACCA	0.403000														62			19		0	0	0.00121646	0	0
COL4A4	1286	broad.mit.edu	37	2	227924858	227924858	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:227924858G>A	uc021vxr.1	-	25	2259	c.2158C>T	c.(2158-2160)Cca>Tca	p.P720S	COL4A4_uc021vxs.1_Missense_Mutation_p.P720S	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	720	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGACCAGGTGGACCTGGTATT	0.443000														44			27		0	0	0.00209593	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48896967	48896967	+	Missense_Mutation	SNP	G	A	A	rs148943401	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:48896967G>A	uc002rwp.2	+	8	3311	c.3197G>A	c.(3196-3198)gGa>gAa	p.G1066E	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.G1066E|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.G1019E|STON1-GTF2A1L_uc002rws.2_Missense_Mutation_p.G362E|STON1-GTF2A1L_uc010yom.2_Missense_Mutation_p.G328E	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	1019					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)			GAAGAAATAGGAAGTACAAGA	0.383000														61			38		0	0	0.000692331	0	0
MGAM	8972	broad.mit.edu	37	7	141720782	141720782	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:141720782G>A	uc003vwy.3	+	4	511	c.457G>A	c.(457-459)Gcc>Acc	p.A153T		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	153					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)	AGGATTCACAGCCCGGTTGAA	0.378000														57			7		0	0	0.00198382	0	0
CEP350	9857	broad.mit.edu	37	1	179966020	179966020	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:179966020T>G	uc001gnt.3	+	5	1111	c.728T>G	c.(727-729)aTg>aGg	p.M243R	CEP350_uc001gnr.1_Missense_Mutation_p.M217R|CEP350_uc009wxl.2_Missense_Mutation_p.M242R|CEP350_uc001gnu.3_Missense_Mutation_p.M77R	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	243						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GTGAATAACATGGCCCATGAT	0.388000														49			9		0	0	0.000442599	0	0
HYAL2	8692	broad.mit.edu	37	3	50355824	50355824	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:50355824G>A	uc003czx.3	-	2	3451	c.1158C>T	c.(1156-1158)ttC>ttT	p.F386F	HYAL2_uc003czw.3_Silent_p.F386F|HYAL2_uc003czv.3_Silent_p.F386F	NM_033158	NP_149348	Q12891	HYAL2_HUMAN	Homo sapiens hyaluronoglucosaminidase 2 (HYAL2), transcript variant 2, mRNA.	386	EGF-like.					anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	TGAGATGCAGGAAGGTACTGG	0.632000														28			21		0	0	0.000720815	0	0
POM121	9883	broad.mit.edu	37	7	72409160	72409160	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:72409160C>T	uc003twk.2	+	5	1307	c.1307C>T	c.(1306-1308)cCc>cTc	p.P436L	POM121_uc003twj.3_Missense_Mutation_p.P171L|POM121_uc010lam.1_Missense_Mutation_p.P171L	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	436	Pore side (Potential).|Ser-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGTTCATCACCCTTCTCTAGC	0.507000														189			29		0	0	0.00283554	0	0
abParts	0	broad.mit.edu	37	15	22473332	22473332	+	RNA	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:22473332G>A	uc001yuj.2	-	5		c.79C>T								Parts of antibodies, mostly variable regions.																		ACCAGGAGGAGAAAGAACCAC	0.512000														30			4		0	0	0.000602214	0	0
DBX2	440097	broad.mit.edu	37	12	45410243	45410243	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:45410243G>A	uc001rok.1	-	3	1018	c.846C>T	c.(844-846)gtC>gtT	p.V282V		NM_001004329	NP_001004329	Q6ZNG2	DBX2_HUMAN	Homo sapiens developing brain homeobox 2 (DBX2), mRNA.	282						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)		GCTGTTGGGGGACGTCCCATA	0.507000														35			9		0	0	0.000978159	0	0
PTCHD2	57540	broad.mit.edu	37	1	11561677	11561677	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:11561677C>T	uc001ash.4	+	1	766	c.628C>T	c.(628-630)Ctg>Ttg	p.L210L	PTCHD2_uc001asi.1_Silent_p.L210L	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	210					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GACCCCGCCCCTGGAGGATCT	0.687000														5			3		0	0	6.4e-05	0	0
C20orf11	54994	broad.mit.edu	37	20	61576133	61576133	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:61576133C>T	uc002ydy.3	+	4	733	c.556C>T	c.(556-558)Cgc>Tgc	p.R186C		NM_017896	NP_060366	Q9NWU2	CT011_HUMAN	Homo sapiens chromosome 20 open reading frame 11 (C20orf11), mRNA.	186						nucleus	protein binding			endometrium(1)|kidney(1)|lung(3)|skin(1)|urinary_tract(1)	7	Breast(26;5.68e-08)					TTATGAAAATCGCGAGTCAAC	0.413000														36			18		0	0	0.000958276	0	0
PSG4	5672	broad.mit.edu	37	19	43420350	43420350	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:43420350G>A	uc002ovj.1	-	1	453	c.354C>T	c.(352-354)tcC>tcT	p.S118S	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Silent_p.S118S	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	119	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GTAAGGTGTAGGATCCTGCAT	0.473000														80			70		0	0	0.000781405	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58190018	58190018	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:58190018C>T	uc002qpu.3	+	4	1744	c.1047C>T	c.(1045-1047)ttC>ttT	p.F349F		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	349					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAAAAGGCTTCTTCCAGATAT	0.443000														46			20		0	0	0.000958276	0	0
SPEN	23013	broad.mit.edu	37	1	16255331	16255331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:16255331G>A	uc001axk.1	+	10	2800	c.2596G>A	c.(2596-2598)Gga>Aga	p.G866R	SPEN_uc010obp.1_Missense_Mutation_p.G825R	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	866					Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding	p.E865Q(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGACAAAGAGGGAATAGCGAA	0.463000														51			11		0	0	0.000978159	0	0
SMG8	55181	broad.mit.edu	37	17	57288609	57288609	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:57288609C>T	uc002ixi.3	+	0	1239	c.1197C>T	c.(1195-1197)tcC>tcT	p.S399S		NM_018149	NP_060619	Q8ND04	SMG8_HUMAN	Homo sapiens smg-8 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG8), mRNA.	399					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of protein kinase activity		protein binding			NS(1)|breast(5)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	33						GCAGCAGTTCCAGTTCTTCAG	0.517000														75			18		0	0	0.00188189	0	0
MAPKAP1	79109	broad.mit.edu	37	9	128201234	128201234	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:128201234T>C	uc004bpv.3	-	11	1834	c.1501A>G	c.(1501-1503)Aaa>Gaa	p.K501E	MAPKAP1_uc011lzt.2_Missense_Mutation_p.K304E|MAPKAP1_uc010mwz.3_Non-coding_Transcript|MAPKAP1_uc011lzu.2_Missense_Mutation_p.K309E|MAPKAP1_uc011lzv.2_Missense_Mutation_p.K209E|MAPKAP1_uc004bpw.3_Missense_Mutation_p.K309E|MAPKAP1_uc004bpx.3_Missense_Mutation_p.K309E|MAPKAP1_uc004bpy.3_Missense_Mutation_p.K465E|MAPKAP1_uc004bpz.3_Missense_Mutation_p.K454E|MAPKAP1_uc010mxa.3_Non-coding_Transcript|MAPKAP1_uc004bpu.3_Non-coding_Transcript	NM_001006617	NP_001006622	Q9BPZ7	SIN1_HUMAN	Homo sapiens mitogen-activated protein kinase associated protein 1 (MAPKAP1), transcript variant 1, mRNA.	501	Interaction with ATF2.				T cell costimulation|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TTTCTTTGTTTTTGAGCAAAG	0.532000														36			46		0	0	0.000781405	0	0
PLG	5340	broad.mit.edu	37	6	161139393	161139393	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:161139393G>A	uc003qtm.4	+	7	967	c.855G>A	c.(853-855)ggG>ggA	p.G285G		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	285	Kringle 3.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.R284H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACTATCGCGGGAATGTGGCTG	0.498000														24			11		0	0	0.000978159	0	0
ZNF483	158399	broad.mit.edu	37	9	114304050	114304050	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:114304050G>A	uc004bff.2	+	5	1059	c.835G>A	c.(835-837)Gga>Aga	p.G279R	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	279					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G279E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CGGTAATCAGGGAAATTCAAA	0.423000														31			19		0	0	0.00152264	0	0
DNAH11	8701	broad.mit.edu	37	7	21892114	21892114	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:21892114T>G	uc003svc.3	+	67	10978	c.10947T>G	c.(10945-10947)ttT>ttG	p.F3649L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3649	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAAATGATTTTAAAATTGAGC	0.383000									Kartagener syndrome					75			9		0	0	0.000978159	0	0
GPR3	2827	broad.mit.edu	37	1	27720522	27720522	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:27720522C>T	uc001bod.3	+	1	315	c.220C>T	c.(220-222)Ccc>Tcc	p.P74S	GPR3_uc021ojv.1_Missense_Mutation_p.P74S	NM_005281	NP_005272	P46089	GPR3_HUMAN	Homo sapiens G protein-coupled receptor 3 (GPR3), mRNA.	74					activation of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane				endometrium(3)|lung(3)|ovary(1)|skin(1)	8		Breast(348;1.53e-05)|Ovarian(437;0.0606)|all_lung(284;0.157)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;2.81e-26)|Colorectal(126;1.24e-08)|KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;4.45e-06)|Lung(427;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|LUSC - Lung squamous cell carcinoma(448;0.008)|READ - Rectum adenocarcinoma(331;0.0419)		CTTCCGTGCCCCCATGTTCCT	0.642000														32			11		0	0	0.00136819	0	0
EML5	161436	broad.mit.edu	37	14	89153569	89153569	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:89153569C>T	uc021ryf.1	-	18	3094	c.2845G>A	c.(2845-2847)Gga>Aga	p.G949R	EML5_uc021ryg.1_Missense_Mutation_p.G949R|EML5_uc001xxh.1_Missense_Mutation_p.G88R	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	949						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCTTTAGATCCTGGGGCCAAT	0.393000														13			4		0	0	0.000602214	0	0
NLRP2	55655	broad.mit.edu	37	19	55495044	55495044	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:55495044G>A	uc021vbq.1	+	5	2089	c.1978G>A	c.(1978-1980)Gag>Aag	p.E660K	NLRP2_uc010yfp.2_Missense_Mutation_p.E637K|NLRP2_uc002qij.3_Missense_Mutation_p.E660K|NLRP2_uc010esp.3_Missense_Mutation_p.E638K|NLRP2_uc010esn.3_Missense_Mutation_p.E636K|NLRP2_uc010eso.3_Missense_Mutation_p.E657K	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	660					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)		GGTAATAAAGGAGAATCTCCC	0.478000														43			9		0	0	0.000442599	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455137	70455137	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:70455137A>T	uc011caq.2	-	6	2151	c.2035T>A	c.(2035-2037)Tcc>Acc	p.S679T	UGT2A1_uc010ihu.3_Missense_Mutation_p.S513T|UGT2A1_uc003hem.4_Missense_Mutation_p.S513T|UGT2A1_uc010ihs.3_Missense_Mutation_p.S522T|UGT2A1_uc021xox.1_Missense_Mutation_p.S478T|UGT2A1_uc010iht.3_Missense_Mutation_p.S469T	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	513					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTTTGACAGGAAAACAAACAA	0.348000														36			5		0	0	0.000602214	0	0
SSPN	8082	broad.mit.edu	37	12	26377269	26377269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:26377269C>T	uc001rhe.3	+	1	423	c.323C>T	c.(322-324)tCa>tTa	p.S108L	SSPN_uc001rhd.3_Missense_Mutation_p.S5L|SSPN_uc009zjf.2_Missense_Mutation_p.S108L|SSPN_uc001rhf.3_Intron	NM_005086	NP_001129295	Q14714	SSPN_HUMAN	Homo sapiens sarcospan (Kras oncogene-associated gene) (SSPN), transcript variant 1, mRNA.	108					cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					CTTTGTGTCTCATATCAGGTT	0.383000														244			53		0	0	0.000781405	0	0
PHKB	5257	broad.mit.edu	37	16	47627449	47627449	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:47627449C>T	uc002eev.4	+	10	1159	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F	PHKB_uc002eeu.4_Silent_p.F362F	NM_000293	NP_000284	Q93100	KPBB_HUMAN	Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA.	369					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)				CCATATTTTTCCTTTATATGA	0.254000														28			7		0	0	0.000157383	0	0
LRTM2	654429	broad.mit.edu	37	12	1940672	1940672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:1940672G>A	uc001qjt.2	+	3	1445	c.639G>A	c.(637-639)atG>atA	p.M213I	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.M213I|LRTM2_uc010sdx.1_Missense_Mutation_p.M213I|LRTM2_uc001qjv.2_Intron	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	213	LRRCT.					integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			AACACTGGATGGAGTGGTTCT	0.612000														25			15		0	0	0.000566183	0	0
RBFOX1	54715	broad.mit.edu	37	16	7568348	7568348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:7568348G>A	uc002cys.2	+	4	1215	c.227G>A	c.(226-228)aGc>aAc	p.S76N	RBFOX1_uc010buf.1_Missense_Mutation_p.S76N|RBFOX1_uc002cyr.1_Missense_Mutation_p.S76N|RBFOX1_uc002cyt.2_Missense_Mutation_p.S76N|RBFOX1_uc010uxz.1_Missense_Mutation_p.S119N|RBFOX1_uc010uya.1_Missense_Mutation_p.S112N|RBFOX1_uc002cyv.1_Missense_Mutation_p.S76N|RBFOX1_uc010uyb.1_Missense_Mutation_p.S76N|RBFOX1_uc002cyw.2_Missense_Mutation_p.S96N|RBFOX1_uc002cyy.2_Missense_Mutation_p.S96N|RBFOX1_uc002cyx.2_Missense_Mutation_p.S96N|RBFOX1_uc010uyc.1_Missense_Mutation_p.S96N	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN	Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.	76					RNA splicing|RNA transport|mRNA processing	nucleus|trans-Golgi network	RNA binding|nucleotide binding|protein C-terminus binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TCCGAGCAGAGCCCGGCGGAC	0.667000														62			8		0	0	0.000274275	0	0
BAIAP2	10458	broad.mit.edu	37	17	79058642	79058642	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:79058642C>T	uc002jzg.2	+	3	336	c.228C>T	c.(226-228)ctC>ctT	p.L76L	BAIAP2_uc002jyz.4_Silent_p.L76L|BAIAP2_uc002jza.2_Silent_p.L76L|BAIAP2_uc002jzc.2_Silent_p.L76L|BAIAP2_uc002jzb.2_5'UTR|BAIAP2_uc010wuh.1_5'UTR|BAIAP2_uc002jzd.2_Silent_p.L76L|BAIAP2_uc002jzf.2_Silent_p.L76L|BAIAP2_uc002jze.2_Silent_p.L109L|BAIAP2_uc002jzh.2_5'Flank	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA.	76	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	SH3 domain binding|cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAGACGTTCTCTTCCAGATGG	0.622000														102			20		0	0	0.00278032	0	0
MYO1E	4643	broad.mit.edu	37	15	59523928	59523928	+	Silent	SNP	G	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:59523928G>T	uc002aga.3	-	5	855	c.483C>A	c.(481-483)acC>acA	p.T161T		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	Homo sapiens myosin IE (MYO1E), mRNA.	161	Myosin head-like.				actin filament-based movement	myosin complex	ATP binding|ATPase activity, coupled|actin binding|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		TGTTCCGGACGGTCTTGGCGT	0.517000														43			7		0.000274275	0.000919883	0.000274275	1	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139908859	139908859	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:139908859C>T	uc003lfs.2	+	28	6482	c.6328C>T	c.(6328-6330)Ccc>Tcc	p.P2110S	ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.P2110S|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.P849S|ANKHD1-EIF4EBP3_uc003lfw.3_Missense_Mutation_p.P748S|ANKHD1-EIF4EBP3_uc010jfl.3_Missense_Mutation_p.P545S|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.P247S	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	2110						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)			TTTGACATCACCCAGAATGGT	0.463000														148			24		0	0	0.000586117	0	0
DAB1	1600	broad.mit.edu	37	1	57480650	57480650	+	Silent	SNP	G	A	A	rs148307561		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:57480650G>A	uc009vzx.1	-	11	1670	c.1350C>T	c.(1348-1350)gtC>gtT	p.V450V	DAB1_uc001cyt.1_Silent_p.V448V|DAB1_uc001cyq.1_Silent_p.V448V|DAB1_uc001cyr.1_Silent_p.V364V|DAB1_uc009vzw.1_Silent_p.V432V|DAB1_uc001cys.1_Silent_p.V450V	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	483					cell differentiation|nervous system development			p.V450V(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						GTGCCACCCCGACTTTGTTGA	0.557000														21			9		0	0	0.000978159	0	0
KCNH5	27133	broad.mit.edu	37	14	63453898	63453898	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:63453898C>T	uc001xfx.3	-	4	492	c.441G>A	c.(439-441)acG>acA	p.T147T	KCNH5_uc001xfy.3_Silent_p.T147T|KCNH5_uc001xfz.1_Silent_p.T89T|KCNH5_uc001xga.3_Silent_p.T89T	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	147					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.T147M(1)		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)		GGGCAAATTTCGTCCAACCTT	0.388000														27			16		0	0	0.000566183	0	0
ERC2	26059	broad.mit.edu	37	3	56330352	56330352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:56330352C>T	uc021wzo.1	-	1	909	c.769G>A	c.(769-771)Gag>Aag	p.E257K	ERC2_uc003dhr.1_Missense_Mutation_p.E257K	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	257						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCGGTCAGCTCGATGGTGAAG	0.557000														91			20		0	0	0.00278032	0	0
FREM1	158326	broad.mit.edu	37	9	14801743	14801743	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:14801743A>G	uc003zlm.3	-	20	4417	c.3601T>C	c.(3601-3603)Ttt>Ctt	p.F1201L	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1201					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCTTTGCTAAACCCCCTATCG	0.522000														26			5		0	0	0.000602214	0	0
TSPAN7	7102	broad.mit.edu	37	X	38525511	38525511	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:38525511G>A	uc011mkj.2	+	3	505	c.296G>A	c.(295-297)gGc>gAc	p.G99D	TSPAN7_uc004deg.4_Missense_Mutation_p.G73D|TSPAN7_uc011mkk.2_Missense_Mutation_p.G90D			P41732	TSN7_HUMAN	Homo sapiens tetraspanin 7 (TSPAN7), mRNA.	73					interspecies interaction between organisms	integral to plasma membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						GTTGTCTTTGGCCTGTTTGGA	0.443000														54			10		0	0	0.00136819	0	0
SH3KBP1	30011	broad.mit.edu	37	X	19564142	19564142	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:19564142G>C	uc004czm.3	-	14	1837	c.1521C>G	c.(1519-1521)ttC>ttG	p.F507L	SH3KBP1_uc011mje.2_Missense_Mutation_p.F246L|SH3KBP1_uc011mjf.2_Missense_Mutation_p.F269L|SH3KBP1_uc004czl.3_Missense_Mutation_p.F470L|SH3KBP1_uc010nfm.3_Intron	NM_031892	NP_114098	Q96B97	SH3K1_HUMAN	Homo sapiens SH3-domain kinase binding protein 1 (SH3KBP1), transcript variant 1, mRNA.	507					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TTGGGGAGTCGAAGATATCAG	0.438000														31			6		0	0	0.000274275	0	0
MAPK15	225689	broad.mit.edu	37	8	144801552	144801552	+	Silent	SNP	C	T	T	rs146454342		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:144801552C>T	uc003yzj.3	+	6	662	c.621C>T	c.(619-621)atC>atT	p.I207I		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	207	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TGGGCTGTATCCTGGGGGAGA	0.652000														39			5		0	0	0.00116845	0	0
IKZF1	10320	broad.mit.edu	37	7	50459490	50459490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:50459490G>A	uc003tow.4	+	6	934	c.779G>A	c.(778-780)aGa>aAa	p.R260K	IKZF1_uc022acq.1_Intron|IKZF1_uc003tpa.4_Missense_Mutation_p.R35K|IKZF1_uc022acr.1_Missense_Mutation_p.R35K|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Missense_Mutation_p.R173K|IKZF1_uc022acu.1_Missense_Mutation_p.R173K|IKZF1_uc003tox.4_Missense_Mutation_p.R218K|IKZF1_uc022acv.1_Missense_Mutation_p.R131K|IKZF1_uc022acw.1_Missense_Mutation_p.R131K|IKZF1_uc022acx.1_Intron|IKZF1_uc022acy.1_Missense_Mutation_p.R77K|IKZF1_uc022acz.1_Missense_Mutation_p.R77K|IKZF1_uc011kck.2_Missense_Mutation_p.R173K|IKZF1_uc003toy.4_Missense_Mutation_p.R218K|IKZF1_uc003toz.4_Missense_Mutation_p.R230K|IKZF1_uc010kyx.3_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	260					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)|p.R260I(1)		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)				GGATCAGAGAGATCTCTCGTG	0.413000			"""D,T"""	BCL6	"""ALL, DLBCL"""									64			9		0	0	0.00136819	0	0
SSH1	54434	broad.mit.edu	37	12	109181809	109181810	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:109181809_109181810GG>AA	uc001tnm.3	-	14	3191_3192	c.3104_3105CC>TT	c.(3103-3105)ccc>cTT	p.P1035L	SSH1_uc001tnl.3_Missense_Mutation_p.P723L	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	1035	Interaction with YWHAG.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTTCTGGGGCGGGTTTCCCTGA	0.554000														44			7		0	0	6.4e-05	0	0
CCDC40	55036	broad.mit.edu	37	17	78069143	78069143	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:78069143A>C	uc010dht.3	+	17	2945	c.2914A>C	c.(2914-2916)Acc>Ccc	p.T972P	CCDC40_uc002jxm.4_Missense_Mutation_p.T755P|CCDC40_uc002jxn.4_Missense_Mutation_p.T368P	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	972					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGAGACCGTCACCACCCAGGC	0.637000														34			12		0	0	0.00244969	0	0
MTL5	9633	broad.mit.edu	37	11	68478377	68478377	+	Silent	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:68478377C>G	uc001ooc.3	-	8	1439	c.1299G>C	c.(1297-1299)acG>acC	p.T433T		NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA.	433					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CTGAAAATTTCGTTGGTGGCA	0.423000														32			7		0	0	0.00198382	0	0
TNKS	8658	broad.mit.edu	37	8	9610109	9610109	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:9610109C>T	uc003wss.3	+	19	3131	c.3126C>T	c.(3124-3126)caC>caT	p.H1042H	TNKS_uc011kww.2_Silent_p.H805H	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	1042	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)		GCCTTGAACACCTTCGGGATA	0.338000														126			27		0	0	0.00209593	0	0
RABGGTA	5875	broad.mit.edu	37	14	24737609	24737609	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:24737609A>C	uc001wof.3	-	9	1446	c.1024T>G	c.(1024-1026)Tgc>Ggc	p.C342G	RABGGTA_uc001wog.3_Missense_Mutation_p.C342G|HP08474_uc021rro.1_5'Flank	NM_004581	NP_878256	Q92696	PGTA_HUMAN	Homo sapiens Rab geranylgeranyltransferase, alpha subunit (RABGGTA), transcript variant 2, mRNA.	342					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GAGTCCCGGCACCAGCCCTCC	0.617000														17			4		0	0	0.00116845	0	0
CCDC125	202243	broad.mit.edu	37	5	68578698	68578698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:68578698G>A	uc003jvv.1	-	10	1434	c.1394C>T	c.(1393-1395)tCt>tTt	p.S465F	CCDC125_uc003jvx.1_3'UTR|CCDC125_uc003jvy.1_Non-coding_Transcript|CCDC125_uc003jvw.2_Missense_Mutation_p.S340F	NM_176816	NP_789786	Q86Z20	CC125_HUMAN	Homo sapiens coiled-coil domain containing 125 (CCDC125), mRNA.	465						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		ACCCAAAACAGAGAATTCTGA	0.368000														91			20		0	0	0.00047179	0	0
CNTNAP2	26047	broad.mit.edu	37	7	147183040	147183040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:147183040C>T	uc003weu.2	+	10	2200	c.1684C>T	c.(1684-1686)Cac>Tac	p.H562Y	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	562	EGF-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			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)			TGTGCCCAATCACTGTGAGCA	0.458000										HNSCC(39;0.1)				115			18		0	0	0.00278032	0	0
CATSPERB	79820	broad.mit.edu	37	14	92091266	92091266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:92091266C>T	uc001xzs.1	-	17	1968	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K	CATSPERB_uc010aub.1_Missense_Mutation_p.E132K	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	610					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CCAAAGGGCTCTTTCATTTCT	0.343000														47			11		0	0	0.000978159	0	0
LRRC49	54839	broad.mit.edu	37	15	71211413	71211413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:71211413C>T	uc010ukf.2	+	6	913	c.607C>T	c.(607-609)Cat>Tat	p.H203Y	LRRC49_uc002asu.3_Missense_Mutation_p.H188Y|LRRC49_uc002asx.3_Missense_Mutation_p.H154Y|LRRC49_uc002asw.3_Missense_Mutation_p.H198Y|LRRC49_uc002asy.3_5'UTR|LRRC49_uc002asz.3_Missense_Mutation_p.H170Y	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	198						cytoplasm|microtubule		p.H198Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAATATTAATCATTTGTGTGA	0.313000														75			14		0	0	0.000422831	0	0
ZNF684	127396	broad.mit.edu	37	1	41012346	41012347	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:41012346_41012347CC>TT	uc001cft.2	+	4	602_603	c.351_352CC>TT	c.(349-354)caccat>caTTat	p.H118Y		NM_152373	NP_689586	Q5T5D7	ZN684_HUMAN	Homo sapiens zinc finger protein 684 (ZNF684), mRNA.	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			AGAGAATCCACCATTATAATAT	0.327000														36			24		0	0	6.4e-05	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66963832	66963832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:66963832G>A	uc003xvs.1	+	2	341	c.50G>A	c.(49-51)gGa>gAa	p.G17E	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA.	17					protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			TCAACAACAGGAGAAGCTCTA	0.403000														75			22		0	0	0.00278032	0	0
CNTN3	5067	broad.mit.edu	37	3	74350679	74350679	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:74350679C>T	uc003dpm.1	-	14	2045	c.1965G>A	c.(1963-1965)ggG>ggA	p.G655G		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	655	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.D654Y(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		TGTGCGTCTTCCCATCGATGA	0.428000														58			18		0	0	0.00278032	0	0
HPS3	84343	broad.mit.edu	37	3	148858068	148858068	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:148858068C>T	uc003ewu.1	+	1	635	c.495C>T	c.(493-495)atC>atT	p.I165I	HPS3_uc011bnq.1_Intron|HPS3_uc021xfk.1_Silent_p.I58I	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	165						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)			AGTACCAGATCATTAATGAGG	0.378000									Hermansky-Pudlak syndrome					87			23		0	0	0.000586117	0	0
KCNB2	9312	broad.mit.edu	37	8	73848351	73848351	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:73848351C>T	uc003xzb.3	+	2	1349	c.761C>T	c.(760-762)tCc>tTc	p.S254F		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	254					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CGATTCTTATCCTCACCAAAT	0.448000														94			17		0	0	0.000422831	0	0
OR7E24	26648	broad.mit.edu	37	19	9362185	9362186	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9362185_9362186CC>TT	uc002mlb.1	+	0	466_467	c.466_467CC>TT	c.(466-468)cca>TTa	p.P156L		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	156					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						CATCATGAACCCACGCCTCTGT	0.450000														35			5		0	0	6.4e-05	0	0
MTOR	2475	broad.mit.edu	37	1	11319449	11319449	+	Silent	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:11319449A>C	uc001asd.3	-	1	139	c.18T>G	c.(16-18)ccT>ccG	p.P6P		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	6					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.G5R(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						TGGCGGCGGCAGGTCCGGTTC	0.502000														144			29		0	0	0.00178596	0	0
ST3GAL1	6482	broad.mit.edu	37	8	134477115	134477116	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:134477115_134477116CC>TT	uc003yuk.2	-	6	1417_1418	c.588_589GG>AA	c.(586-591)cgggag>cgAAag	p.E197K	ST3GAL1_uc003yum.2_Missense_Mutation_p.E197K	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 1 (ST3GAL1), transcript variant 2, mRNA.	197					protein glycosylation	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			TCTCCCAGCTCCCGGAAGCTCT	0.579000														94			16		0	0	6.4e-05	0	0
SGSM3	27352	broad.mit.edu	37	22	40804674	40804674	+	Missense_Mutation	SNP	C	T	T	rs141061307		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:40804674C>T	uc003ayu.1	+	16	2035	c.1826C>T	c.(1825-1827)tCc>tTc	p.S609F	SGSM3_uc011aos.1_Missense_Mutation_p.S542F|SGSM3_uc011aot.1_Missense_Mutation_p.S520F	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA.	609	RUN.				Rap protein signal transduction|cell cycle arrest	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TCCGTGTATTCCCGTCTGGTG	0.642000														26			15		0	0	0.00121646	0	0
TNXB	7148	broad.mit.edu	37	6	32012952	32012952	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:32012952G>A	uc003nzl.2	-	31	10954	c.10752C>T	c.(10750-10752)ttC>ttT	p.F3584F	TNXB_uc003nzg.1_Silent_p.F15F|TNXB_uc003nzh.1_Silent_p.F53F	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3631					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						ACTGGACCACGAAGGAATCAA	0.647000														275			31		0	0	0.00222228	0	0
PARP1	142	broad.mit.edu	37	1	226562050	226562050	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:226562050T>G	uc001hqd.4	-	13	2118	c.1947A>C	c.(1945-1947)gaA>gaC	p.E649D		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	649					cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|NAD+ ADP-ribosyltransferase activity|identical protein binding|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TCACTGCCTCTTCATCCTTCA	0.478000								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA						54			10		0	0	0.000673444	0	0
PLD1	5337	broad.mit.edu	37	3	171417576	171417577	+	Nonsense_Mutation	DNP	CC	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:171417576_171417577CC>AA	uc003fhs.3	-	11	1532_1533	c.1185_1186GG>TT	c.(1183-1188)gaggga>gaTTga	p.395_396EG>D*	PLD1_uc003fht.3_Nonsense_Mutation_p.395_396EG>D*	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	395					Ras protein signal transduction|cell communication|chemotaxis	Golgi membrane|endoplasmic reticulum membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.E395D(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CAACGATTTCCCTCAACCACTG	0.361000														281			12		0	0	6.4e-05	0	0
COQ10B	80219	broad.mit.edu	37	2	198327324	198327324	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:198327324C>A	uc002uuh.1	+	2	370	c.316C>A	c.(316-318)Cct>Act	p.P106T	COQ10B_uc010fsl.1_Missense_Mutation_p.P78T	NM_025147	NP_079423	Q9H8M1	CQ10B_HUMAN	Homo sapiens coenzyme Q10 homolog B (S. cerevisiae) (COQ10B), nuclear gene encoding mitochondrial protein, mRNA.	106						mitochondrial inner membrane				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			GCATTTTGTTCCTTGGTGCAA	0.323000														101			26		3.65163e-15	1.23598e-14	0.00106085	1	0
EBF1	1879	broad.mit.edu	37	5	158250240	158250240	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:158250240C>T	uc010jip.3	-	7	1024	c.722G>A	c.(721-723)gGg>gAg	p.G241E	EBF1_uc011ddw.2_Missense_Mutation_p.G108E|EBF1_uc011ddx.2_Missense_Mutation_p.G241E|EBF1_uc003lxl.4_Missense_Mutation_p.G218E	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	241					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCCCTCCGCCCATGCTTGGA	0.488000			T	HMGA2	lipoma									13			4		0	0	0.000602214	0	0
CSMD2	114784	broad.mit.edu	37	1	34015872	34015872	+	Missense_Mutation	SNP	C	T	T	rs149704396	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:34015872C>T	uc001bxm.1	-	55	8999	c.8822G>A	c.(8821-8823)cGg>cAg	p.R2941Q	CSMD2_uc001bxn.1_Missense_Mutation_p.R2797Q	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2917	Sushi 21.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCAGCTGTACCGCACCACTGC	0.597000														25			4		0	0	0.000602214	0	0
OLR1	4973	broad.mit.edu	37	12	10313409	10313409	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:10313409C>T	uc001qxo.1	-	3	654	c.540G>A	c.(538-540)ctG>ctA	p.L180L	OLR1_uc010sgz.1_Intron|OLR1_uc021qvb.1_Silent_p.L180L|OLR1_uc010sha.1_Intron	NM_002543	NP_002534	P78380	OLR1_HUMAN	Homo sapiens oxidized low density lipoprotein (lectin-like) receptor 1 (OLR1), transcript variant 1, mRNA.	180	C-type lectin.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						TATTAATTTTCAGCAACTTGG	0.418000														141			34		0	0	0.00148497	0	0
ZPBP	11055	broad.mit.edu	37	7	49977183	49977183	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:49977183C>T	uc003tou.3	-	7	1067	c.997G>A	c.(997-999)Gga>Aga	p.G333R	ZPBP_uc010kyw.3_Missense_Mutation_p.G332R	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	333					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					CAATGAATTCCATCACGGGGG	0.353000														101			15		0	0	0.00121646	0	0
MIA3	375056	broad.mit.edu	37	1	222802528	222802528	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:222802528C>T	uc001hnl.3	+	3	1975	c.1966C>T	c.(1966-1968)Ccc>Tcc	p.P656S	MIA3_uc009xea.1_Missense_Mutation_p.P492S	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	656					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AAGAAATCTTCCCTGGCAACA	0.463000														200			34		0	0	0.00283554	0	0
PKP1	5317	broad.mit.edu	37	1	201287819	201287819	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:201287819C>T	uc001gwd.3	+	5	1379	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A	PKP1_uc001gwe.3_Silent_p.A376A|PKP1_uc009wzm.3_5'UTR	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	376					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CTGTTCTGGCCGACCGCGTCA	0.582000														11			5		0	0	0.000602214	0	0
CCDC15	80071	broad.mit.edu	37	11	124857228	124857228	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:124857228T>C	uc001qbm.4	+	7	1365	c.1106T>C	c.(1105-1107)gTt>gCt	p.V369A		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	Homo sapiens coiled-coil domain containing 15 (CCDC15), mRNA.	369						centrosome		p.Q368Q(1)		central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		AAGGTTCAGGTTACTGAGCCA	0.473000														117			23		0	0	0.000586117	0	0
ZFHX4	79776	broad.mit.edu	37	8	77617072	77617072	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:77617072C>T	uc003yau.2	+	1	1136	c.749C>T	c.(748-750)tCc>tTc	p.S250F	ZFHX4_uc003yat.1_Missense_Mutation_p.S250F|ZFHX4_uc003yaw.1_Missense_Mutation_p.S250F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	250						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)			GCCAAAAACTCCTGTGTGTCC	0.443000										HNSCC(33;0.089)				52			5		0	0	0.000602214	0	0
TACC2	10579	broad.mit.edu	37	10	123985898	123985898	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:123985898G>A	uc001lfv.3	+	12	7986	c.7626G>A	c.(7624-7626)ccG>ccA	p.P2542P	TACC2_uc001lfw.3_Silent_p.P688P|TACC2_uc009xzx.3_Silent_p.P2497P|TACC2_uc010qtv.2_Silent_p.P2546P|TACC2_uc001lfx.3_Silent_p.P246P|TACC2_uc001lfy.3_Silent_p.P242P|TACC2_uc001lfz.3_Silent_p.P620P|TACC2_uc001lga.3_Silent_p.P620P|TACC2_uc009xzy.3_Silent_p.P632P|TACC2_uc001lgb.3_Silent_p.P577P|TACC2_uc010qtw.1_Silent_p.P637P	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	2542						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				ACGATGCCCCGAAGAAGCAGG	0.537000														11			4		0	0	0.000602214	0	0
NF1	4763	broad.mit.edu	37	17	29684049	29684049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:29684049C>T	uc002hgg.3	+	52	8193	c.7810C>T	c.(7810-7812)Ctc>Ttc	p.L2604F	NF1_uc002hgh.3_Missense_Mutation_p.L2583F|NF1_uc010cso.3_Missense_Mutation_p.L792F|NF1_uc010wbt.1_Missense_Mutation_p.L82F|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2604					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATCAAATGTTCTCTTGGATGA	0.423000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				57			63		0	0	0.000781405	0	0
PXDNL	137902	broad.mit.edu	37	8	52320835	52320835	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:52320835G>A	uc003xqu.4	-	16	3450	c.3349C>T	c.(3349-3351)Ctt>Ttt	p.L1117F	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1117					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)				GGACTGAGAAGGTAGGAGGGT	0.582000														79			8		0	0	0.000274275	0	0
VAC14	55697	broad.mit.edu	37	16	70816996	70816996	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:70816996G>A	uc002ezm.3	-	6	1009	c.751C>T	c.(751-753)Ccc>Tcc	p.P251S	VAC14_uc010cfw.3_Missense_Mutation_p.P17S|VAC14_uc002ezn.3_Intron	NM_018052	NP_060522	Q08AM6	VAC14_HUMAN	Homo sapiens Vac14 homolog (S. cerevisiae) (VAC14), mRNA.	251					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)				ACACTGGAGGGGTTCTTCTTA	0.517000														97			23		0	0	0.00047179	0	0
ABLIM1	3983	broad.mit.edu	37	10	116232792	116232792	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:116232792C>G	uc021pyx.1	-	9	1318	c.1219G>C	c.(1219-1221)Gag>Cag	p.E407Q	ABLIM1_uc021pyw.1_Missense_Mutation_p.E407Q|ABLIM1_uc021pyy.1_Missense_Mutation_p.E375Q|ABLIM1_uc021pyz.1_Missense_Mutation_p.E341Q|ABLIM1_uc021pza.1_Missense_Mutation_p.E347Q|ABLIM1_uc021pze.1_Missense_Mutation_p.E331Q|ABLIM1_uc021pzf.1_Missense_Mutation_p.E369Q|ABLIM1_uc021pyv.1_Missense_Mutation_p.E112Q|ABLIM1_uc021pzb.1_Missense_Mutation_p.E84Q|ABLIM1_uc021pzc.1_Missense_Mutation_p.E58Q|ABLIM1_uc021pzd.1_Missense_Mutation_p.E255Q|ABLIM1_uc021pyu.1_Missense_Mutation_p.E119Q	NM_002313	NP_002304	O14639	ABLM1_HUMAN	Homo sapiens actin binding LIM protein 1 (ABLIM1), transcript variant 1, mRNA.	407					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TAGAAAGGCTCATAGGTAATA	0.418000														69			19		0	0	0.00121646	0	0
LGR5	8549	broad.mit.edu	37	12	71977917	71977917	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:71977917C>T	uc001swl.3	+	17	2175	c.2127C>T	c.(2125-2127)tcC>tcT	p.S709S	LGR5_uc001swm.3_Silent_p.S685S|LGR5_uc021rar.1_Silent_p.S637S|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	709						integral to plasma membrane	protein-hormone receptor activity	p.A708T(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						ATGGCGCCTCCCCTCTCTGCC	0.552000														156			28		0	0	0.000878237	0	0
NUBP2	10101	broad.mit.edu	37	16	1838626	1838626	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:1838626A>G	uc002cmw.4	+	6	816	c.727A>G	c.(727-729)Atc>Gtc	p.I243V	NUBP2_uc002cmx.4_Missense_Mutation_p.I102V	NM_012225	NP_036357	Q9Y5Y2	NUBP2_HUMAN	Homo sapiens nucleotide binding protein 2 (NUBP2), mRNA.	243						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						CCACGACTTCATCCAGGAGTT	0.677000														10			5		0	0	0.000602214	0	0
IFT140	9742	broad.mit.edu	37	16	1633354	1633354	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:1633354C>T	uc002cmb.3	-	11	1755	c.1393G>A	c.(1393-1395)Gcg>Acg	p.A465T	IFT140_uc002clz.3_Missense_Mutation_p.A116T	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	465										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TCGAAGATCGCCACCTGCCTT	0.567000														23			4		0	0	0.000602214	0	0
FAS	355	broad.mit.edu	37	10	90770526	90770527	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:90770526_90770527GG>TT	uc001kfr.3	+	5	868_869	c.522_523GG>TT	c.(520-525)ttgggg>ttTTgg	p.174_175LG>FW	FAS_uc010qna.2_Non-coding_Transcript|FAS_uc001kft.3_Intron|FAS_uc010qnb.2_Non-coding_Transcript|FAS_uc001kfs.3_Missense_Mutation_p.174_175LG>FW|FAS_uc010qnc.2_Intron|FAS_uc010qnd.2_Non-coding_Transcript|FAS_uc010qne.2_Intron|FAS_uc001kfw.3_Missense_Mutation_p.W138F|FAS_uc009xtp.3_Non-coding_Transcript	NM_000043	NP_000034	P25445	TNR6_HUMAN	Homo sapiens Fas (TNF receptor superfamily, member 6) (FAS), transcript variant 1, mRNA.	174					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding	p.L174F(2)		breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		GATCTAACTTGGGGTGGCTTTG	0.351000														140			7		0	0	6.4e-05	0	0
GRID2	2895	broad.mit.edu	37	4	94031943	94031943	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:94031943G>A	uc011cdt.2	+	3	832	c.574G>A	c.(574-576)Gga>Aga	p.G192R	GRID2_uc010ikx.3_Missense_Mutation_p.G192R|GRID2_uc011cdu.2_Missense_Mutation_p.G97R|GRID2_uc011cdv.1_Non-coding_Transcript	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	192					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.G192R(2)|p.G192V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTCTCAGCAGGGAATGGATGT	0.398000														40			10		0	0	0.000442599	0	0
TCEAL6	158931	broad.mit.edu	37	X	101396161	101396161	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:101396161C>T	uc022cas.1	-	0	143	c.143G>A	c.(142-144)cGa>cAa	p.R48Q	TCEAL6_uc004eiq.3_Missense_Mutation_p.R48Q	NM_001006938	NP_001006939	Q6IPX3	TCAL6_HUMAN	Homo sapiens transcription elongation factor A (SII)-like 6 (TCEAL6), mRNA.	48	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						ctcagcctttcgctttccctc	0.547000														18			9		0	0	0.000274275	0	0
SCN10A	6336	broad.mit.edu	37	3	38743472	38743472	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:38743472C>T	uc003ciq.3	-	25	4515	c.4515G>A	c.(4513-4515)acG>acA	p.T1505T		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1505					sensory perception	voltage-gated sodium channel complex		p.T1505T(2)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCAGAATTTTCGTCTTTTCTT	0.453000														33			11		0	0	0.000673444	0	0
F5	2153	broad.mit.edu	37	1	169511792	169511792	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:169511792C>T	uc001ggg.1	-	12	2681	c.2536G>A	c.(2536-2538)Ggg>Agg	p.G846R		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	846	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.G846W(2)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGACGTATCCCTGTGACATCT	0.458000														61			18		0	0	0.00121646	0	0
UBASH3B	84959	broad.mit.edu	37	11	122665459	122665459	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:122665459G>A	uc001pyi.4	+	6	1390	c.1030G>A	c.(1030-1032)Gat>Aat	p.D344N		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA.	344						cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CACGTTTGGGGATGGAGTATT	0.502000														110			26		0	0	0.000878237	0	0
SCN3B	55800	broad.mit.edu	37	11	123508998	123508998	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:123508998G>A	uc001pza.1	-	4	887	c.480C>T	c.(478-480)atC>atT	p.I160I	SCN3B_uc001pzb.1_Silent_p.I160I	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	160					axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		TGTACATCATGATTTCTGAGA	0.463000														36			9		0	0	0.000442599	0	0
C11orf70	85016	broad.mit.edu	37	11	101946667	101946667	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:101946667C>T	uc001pgp.3	+	4	532	c.499C>T	c.(499-501)Ctg>Ttg	p.L167L	C11orf70_uc001pgo.3_3'UTR|C11orf70_uc001pgq.3_Silent_p.L129L	NM_032930	NP_116319	Q9BRQ4	CK070_HUMAN	Homo sapiens chromosome 11 open reading frame 70 (C11orf70), transcript variant 1, mRNA.	167										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AGAAGAGTTCCTGTTTTGTCT	0.358000														82			12		0	0	0.00185496	0	0
RRP36	88745	broad.mit.edu	37	6	42992834	42992834	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:42992834C>T	uc003otp.1	+	1	250	c.242C>T	c.(241-243)cCa>cTa	p.P81L		NM_033112	NP_149103	Q96EU6	RRP36_HUMAN	Homo sapiens ribosomal RNA processing 36 homolog (S. cerevisiae) (RRP36), mRNA.	81					rRNA processing|ribosomal small subunit biogenesis	nucleolus				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						GCTTCTAGACCACCTATCCAA	0.438000														40			18		0	0	0.000586117	0	0
TP53I11	9537	broad.mit.edu	37	11	44959122	44959122	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:44959122C>T	uc001myi.3	-	5	777	c.172G>A	c.(172-174)Gag>Aag	p.E58K	TP53I11_uc001myf.1_Non-coding_Transcript|TP53I11_uc001myj.3_Missense_Mutation_p.E58K|TP53I11_uc001myk.3_Missense_Mutation_p.E58K|TP53I11_uc001myl.3_Missense_Mutation_p.E58K|TP53I11_uc001mym.3_Intron	NM_006034	NP_006025	O14683	P5I11_HUMAN	Homo sapiens tumor protein p53 inducible protein 11 (TP53I11), mRNA.	58					negative regulation of cell proliferation|response to stress	integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(1)	5						CCCAAAGGCTCCCGAATGGTA	0.577000														17			4		0	0	0.00116845	0	0
STIM2	57620	broad.mit.edu	37	4	27024441	27024441	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:27024441C>T	uc003gsg.4	+	11	2592	c.2064C>T	c.(2062-2064)atC>atT	p.I688I	STIM2_uc003gsh.4_Silent_p.I696I|STIM2_uc010iex.3_3'UTR|STIM2_uc010iey.3_3'UTR	NM_020860	NP_065911	Q9P246	STIM2_HUMAN	Homo sapiens stromal interaction molecule 2 (STIM2), transcript variant 2, mRNA.	688					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				CCAGTGGCATCCCGGTGCCTA	0.488000														36			21		0	0	0.00152264	0	0
MAP3K10	4294	broad.mit.edu	37	19	40719522	40719522	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:40719522C>T	uc002ona.3	+	8	2224	c.1936C>T	c.(1936-1938)Ccg>Tcg	p.P646S		NM_002446	NP_002437	Q02779	M3K10_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 10 (MAP3K10), mRNA.	646					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						CGAGCCCTccccgggggcgcg	0.766000														2			3		0	0	6.4e-05	0	0
WDR33	55339	broad.mit.edu	37	2	128479482	128479482	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:128479482C>G	uc002tpg.2	-	14	1798	c.1599G>C	c.(1597-1599)gaG>gaC	p.E533D		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	533					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)		TTTTTTTCTTCTCTTCCAATT	0.388000														84			19		0	0	0.00074312	0	0
ACTN1	87	broad.mit.edu	37	14	69347701	69347701	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:69347701G>A	uc001xkl.3	-	16	2269	c.1959C>T	c.(1957-1959)atC>atT	p.I653I	ACTN1_uc001xkk.3_Silent_p.I249I|ACTN1_uc010ttb.2_Silent_p.I588I|ACTN1_uc001xkm.3_Silent_p.I653I|ACTN1_uc001xkn.3_Silent_p.I653I|ACTN1_uc010ttc.2_Silent_p.I238I	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	653	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		AGATCCTCCCGATCTCCTGCT	0.547000														29			5		0	0	0.00198382	0	0
DNAJC14	85406	broad.mit.edu	37	12	56188603	56188603	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:56188603G>A	uc001sht.3	-	5	420	c.365C>T	c.(364-366)gCt>gTt	p.A122V	DNAJC14_uc009zoa.2_Non-coding_Transcript|DNAJC14_uc001shs.3_Non-coding_Transcript|DNAJC14_uc001shu.2_Missense_Mutation_p.A805V|DNAJC14_uc001shv.4_Missense_Mutation_p.A122V	NM_033082	NP_149073	Q6Y2X3	DJC14_HUMAN	Homo sapiens SAP domain containing ribonucleoprotein (SARNP), transcript variant 1, mRNA.	0					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGCTGCCCGAGCAGCTTTCTT	0.423000														34			9		0	0	0.000442599	0	0
KCNH5	27133	broad.mit.edu	37	14	63447701	63447701	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:63447701G>A	uc001xfx.3	-	5	882	c.831C>T	c.(829-831)gtC>gtT	p.V277V	KCNH5_uc001xfy.3_Silent_p.V277V|KCNH5_uc001xfz.1_Silent_p.V219V|KCNH5_uc001xga.3_Silent_p.V219V	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	277					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)		GGTCAGAAATGACCTCTCCAC	0.428000														27			5		0	0	0.000602214	0	0
CYB5R4	51167	broad.mit.edu	37	6	84618798	84618798	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:84618798C>T	uc003pkf.3	+	3	533	c.401C>T	c.(400-402)gCt>gTt	p.A134V		NM_016230	NP_057314	Q7L1T6	NB5R4_HUMAN	Homo sapiens cytochrome b5 reductase 4 (CYB5R4), mRNA.	134					cell development|detection of oxygen|generation of precursor metabolites and energy|glucose homeostasis|insulin secretion|response to antibiotic|superoxide metabolic process	endoplasmic reticulum|perinuclear region of cytoplasm	NAD(P)H oxidase activity|cytochrome-b5 reductase activity|heme binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	23		all_cancers(76;7e-07)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00128)		BRCA - Breast invasive adenocarcinoma(397;0.0871)		ATTAAACCTGCTGTTCTGAAA	0.393000														20			4		0	0	0.00116845	0	0
HVCN1	84329	broad.mit.edu	37	12	111098996	111098996	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:111098996C>T	uc001trs.1	-	3	444	c.279G>A	c.(277-279)agG>agA	p.R93R	HVCN1_uc001trq.1_Silent_p.R93R|HVCN1_uc001trt.1_Silent_p.R93R|HVCN1_uc010syd.1_Silent_p.R73R	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.	93					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						TGAACAGTTTCCTCAACATGC	0.657000														24			20		0	0	0.00188189	0	0
TFAP2B	7021	broad.mit.edu	37	6	50803776	50803776	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:50803776C>T	uc003pag.3	+	3	770	c.604C>T	c.(604-606)Cca>Tca	p.P202S		NM_003221	NP_003212	Q92481	AP2B_HUMAN	Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.	202					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.V201F(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CTTTCTAGTTCCAGTTCCTCC	0.493000														147			18		0	0	0.000958276	0	0
SNAPC4	6621	broad.mit.edu	37	9	139275291	139275291	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:139275291G>A	uc004chh.3	-	18	2409	c.2400C>T	c.(2398-2400)atC>atT	p.I800I		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	800					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGGCAGTATCGATGTGGAACA	0.637000														26			6		0	0	0.000157383	0	0
ZSCAN1	284312	broad.mit.edu	37	19	58565251	58565251	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:58565251G>A	uc002qrc.1	+	5	1306	c.1059G>A	c.(1057-1059)cgG>cgA	p.R353R		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	353					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)		AAGCCCCCCGGAGCAAGGGCC	0.662000														7			13		0	0	0.00244969	0	0
LMO7	4008	broad.mit.edu	37	13	76423255	76423255	+	Silent	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:76423255T>A	uc021rkq.1	+	26	4526	c.4191T>A	c.(4189-4191)tcT>tcA	p.S1397S	LMO7_uc010thv.2_Silent_p.S1115S|LMO7_uc001vjv.3_Silent_p.S1164S|LMO7_uc010thw.2_Silent_p.S1041S	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	1449						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ACATGACCTCTTCACAGAGGA	0.373000														20			5		0	0	0.00198382	0	0
ART4	420	broad.mit.edu	37	12	14982369	14982369	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:14982369G>A	uc001rcl.1	-	2	1247	c.881C>T	c.(880-882)cCt>cTt	p.P294L	ART4_uc009zid.1_Non-coding_Transcript|ART4_uc009zie.1_Non-coding_Transcript	NM_021071	NP_066549	Q93070	NAR4_HUMAN	Homo sapiens ADP-ribosyltransferase 4 (Dombrock blood group) (ART4), mRNA.	294					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						AATAGCTATAGGATCAGGGAT	0.323000														42			15		0	0	0.00074312	0	0
HTR3C	170572	broad.mit.edu	37	3	183778126	183778126	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:183778126C>G	uc003fmk.3	+	8	1364	c.1330C>G	c.(1330-1332)Ctc>Gtc	p.L444V		NM_130770	NP_570126	Q8WXA8	5HT3C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member C (HTR3C), mRNA.	444						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.L444I(2)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			TGTCATTGTCCTCTGGAACAC	0.552000														54			15		0	0	0.00244969	0	0
SALL4	57167	broad.mit.edu	37	20	50408058	50408058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:50408058C>T	uc002xwh.4	-	1	1065	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	SALL4_uc010gii.3_Missense_Mutation_p.V322M|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	322					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTCGGGAGCACCCGGGTCCCA	0.637000														26			5		0	0	0.000602214	0	0
VPS33B	26276	broad.mit.edu	37	15	91543792	91543792	+	Silent	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:91543792C>G	uc002bqp.1	-	19	1863	c.1509G>C	c.(1507-1509)ctG>ctC	p.L503L	VPS33B_uc002bqq.1_Silent_p.L412L|VPS33B_uc010uqu.1_Silent_p.L476L	NM_018668	NP_061138	Q9H267	VP33B_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog B (yeast) (VPS33B), mRNA.	503					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					GGGGCACTTTCAGATCATACT	0.502000														143			30		0	0	0.00058488	0	0
NBEAL2	23218	broad.mit.edu	37	3	47033073	47033073	+	Missense_Mutation	SNP	C	T	T	rs111521585		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:47033073C>T	uc003cqp.3	+	7	999	c.820C>T	c.(820-822)Cgt>Tgt	p.R274C	NBEAL2_uc003cqq.1_Missense_Mutation_p.R267C	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	274							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)		CCCAGAGCTTCGTGCCCTGCT	0.627000														35			5		0	0	0.000602214	0	0
EPS8L3	79574	broad.mit.edu	37	1	110301868	110301868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:110301868C>T	uc001dyr.2	-	4	622	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	EPS8L3_uc001dys.2_Missense_Mutation_p.E133K|EPS8L3_uc001dyq.2_Missense_Mutation_p.E133K|EPS8L3_uc009wfm.2_Missense_Mutation_p.E99K|EPS8L3_uc009wfn.2_Missense_Mutation_p.E99K|EPS8L3_uc009wfo.2_Missense_Mutation_p.E80K	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	133						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		ACCCCCACTTCCTGGCACTGG	0.587000														70			27		0	0	0.001512	0	0
HYDIN	54768	broad.mit.edu	37	16	70926280	70926280	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:70926280G>A	uc002ezr.3	-	55	9549	c.9398C>T	c.(9397-9399)cCt>cTt	p.P3133L		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3134										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)				GCGCAGAACAGGCTGGTGCTC	0.483000														25			9		0	0	0.00136819	0	0
OR2B6	26212	broad.mit.edu	37	6	27925897	27925897	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:27925897G>A	uc011dkx.2	+	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATACACTTAGGAACAAGGAGG	0.393000														59			20		0	0	0.00188189	0	0
GNL2	29889	broad.mit.edu	37	1	38049513	38049513	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:38049513G>A	uc001cbk.3	-	5	754	c.591C>T	c.(589-591)atC>atT	p.I197I	GNL2_uc010oif.1_Silent_p.I38I|GNL2_uc009vve.2_3'UTR	NM_013285	NP_037417	Q13823	NOG2_HUMAN	Homo sapiens guanine nucleotide binding protein-like 2 (nucleolar) (GNL2), mRNA.	197					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CCTTTTTATAGATCTCTTCTT	0.398000														67			17		0	0	0.000958276	0	0
FOXK2	3607	broad.mit.edu	37	17	80540674	80540674	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:80540674C>T	uc002kfn.3	+	4	1138	c.967C>T	c.(967-969)Cag>Tag	p.Q323*	FOXK2_uc002kfm.1_Nonsense_Mutation_p.Q323*|FOXK2_uc010diu.3_Intron	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	Homo sapiens forkhead box K2 (FOXK2), mRNA.	323					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			GCCGCGTTCCCAGGAAGAACC	0.423000														32			23		0	0	0.000586117	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24257714	24257714	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:24257714G>A	uc003xdz.2	+	10	1263	c.1043G>A	c.(1042-1044)gGa>gAa	p.G348E	ADAMDEC1_uc010lub.2_Missense_Mutation_p.G269E|ADAMDEC1_uc011lab.1_Missense_Mutation_p.G269E	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	348	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GCTCTTGTAGGAGTGATGTCA	0.373000														16			6		0	0	0.00116845	0	0
RHAG	6005	broad.mit.edu	37	6	49582466	49582466	+	Silent	SNP	G	A	A	rs151209252		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:49582466G>A	uc003ozk.4	-	4	803	c.741C>T	c.(739-741)ctC>ctT	p.L247L	RHAG_uc010jzl.3_Silent_p.L247L|RHAG_uc010jzm.3_Silent_p.L247L	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	247					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CACAGGCAGCGAGAGAGAAGT	0.527000														73			15		0	0	0.000308642	0	0
NCOA2	10499	broad.mit.edu	37	8	71039182	71039182	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:71039182C>T	uc003xyn.1	-	18	3944	c.3782G>A	c.(3781-3783)cGa>cAa	p.R1261Q	NCOA2_uc011lfb.1_Missense_Mutation_p.R349Q	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	1261					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CATCAAAGTTCGTTGCTGAAC	0.498000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""									31			6		0	0	0.00198382	0	0
CDO1	1036	broad.mit.edu	37	5	115146919	115146919	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:115146919G>A	uc003krg.3	-	2	653	c.342C>T	c.(340-342)tcC>tcT	p.S114S		NM_001801	NP_001792	Q16878	CDO1_HUMAN	Homo sapiens cysteine dioxygenase, type I (CDO1), mRNA.	114					inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)|NADH(DB00157)	CCATCTCATTGGATTTTTTGT	0.403000														150			37		0	0	0.00128727	0	0
ADAM9	8754	broad.mit.edu	37	8	38899577	38899577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:38899577C>T	uc003xmr.3	+	11	1321	c.1243C>T	c.(1243-1245)Ccc>Tcc	p.P415S	ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA.	415	Disintegrin.				PMA-inducible membrane protein ectodomain proteolysis|activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	SH3 domain binding|collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|zinc ion binding	p.P415L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			CTATAGTGCTCCCTCCTGTGG	0.418000														105			20		0	0	0.00278032	0	0
NRXN1	9378	broad.mit.edu	37	2	50850507	50850507	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:50850507C>T	uc021vhh.1	-	4	2000	c.1079G>A	c.(1078-1080)gGa>gAa	p.G360E	NRXN1_uc002rxb.4_Missense_Mutation_p.G40E|NRXN1_uc021vhg.1_Missense_Mutation_p.G393E|NRXN1_uc021vhi.1_Missense_Mutation_p.G389E|NRXN1_uc021vhj.1_Missense_Mutation_p.G356E|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	360	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATTAAACTTTCCATTCACAGG	0.458000														21			10		0	0	0.000673444	0	0
IGSF21	84966	broad.mit.edu	37	1	18703912	18703912	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:18703912G>A	uc001bau.2	+	8	1703	c.1320G>A	c.(1318-1320)acG>acA	p.T440T	IGSF21_uc001bav.2_Silent_p.T261T	NM_032880	NP_116269	Q96ID5	IGS21_HUMAN	Homo sapiens immunoglobin superfamily, member 21 (IGSF21), mRNA.	440						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		CAAGAGGAACGGAGGACTCTA	0.483000														64			16		0	0	0.000958276	0	0
PHKA1	5255	broad.mit.edu	37	X	71870317	71870317	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:71870317C>T	uc004eax.4	-	13	1547	c.1246_splice	c.e13-1	p.G416_splice	PHKA1_uc004eay.4_Splice_Site_p.G416_splice|PHKA1_uc011mqi.2_Splice_Site_p.G416_splice	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	416					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GGCTAAAAATCCCTAAAGAAA	0.398000														18			7		0	0	0.000442599	0	0
TACC2	10579	broad.mit.edu	37	10	123843116	123843116	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:123843116G>A	uc001lfv.3	+	3	1461	c.1101G>A	c.(1099-1101)ctG>ctA	p.L367L	TACC2_uc001lfw.3_Intron|TACC2_uc009xzx.3_Silent_p.L367L|TACC2_uc010qtv.2_Silent_p.L367L	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	367						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGGAGGCTCTGGACACCATTG	0.632000														27			10		0	0	0.000978159	0	0
STAP1	26228	broad.mit.edu	37	4	68441174	68441174	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:68441174G>A	uc003hde.4	+	2	346	c.264G>A	c.(262-264)gcG>gcA	p.A88A	STAP1_uc003hdf.3_Silent_p.A88A	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA.	88	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						AGAACTGTGCGAAATTCACCC	0.388000														30			11		0	0	0.00244969	0	0
SEC14L1	6397	broad.mit.edu	37	17	75196570	75196570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:75196570C>T	uc010dhc.3	+	8	1144	c.824C>T	c.(823-825)cCa>cTa	p.P275L	SEC14L1_uc021udv.1_Missense_Mutation_p.P275L|SEC14L1_uc021udw.1_Missense_Mutation_p.P275L|SEC14L1_uc021udx.1_Missense_Mutation_p.P275L|SEC14L1_uc002jto.3_Missense_Mutation_p.P275L|SEC14L1_uc010wth.2_Missense_Mutation_p.P275L|SEC14L1_uc002jtm.3_Missense_Mutation_p.P275L|SEC14L1_uc010wti.2_Missense_Mutation_p.P241L	NM_001039573	NP_001191337	Q92503	S14L1_HUMAN	Homo sapiens SEC14-like 1 (S. cerevisiae) (SEC14L1), transcript variant 2, mRNA.	275					transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TAATAGATTCCAAAAGATGAG	0.433000														118			11		0	0	0.00185496	0	0
SOGA3	387104	broad.mit.edu	37	6	127797031	127797031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:127797031C>T	uc003qbd.3	-	5	3005	c.2140G>A	c.(2140-2142)Gag>Aag	p.E714K	KIAA0408_uc003qbc.3_5'Flank	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	714						integral to membrane											CCGCTGAGCTCGTTGATCTGC	0.657000														32			9		0	0	0.00136819	0	0
PTPRT	11122	broad.mit.edu	37	20	40827919	40827919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:40827919C>T	uc002xkg.3	-	15	2636	c.2452G>A	c.(2452-2454)Gaa>Aaa	p.E818K	PTPRT_uc010ggj.3_Missense_Mutation_p.E837K|PTPRT_uc010ggi.3_Missense_Mutation_p.E21K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	818					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)				GAGAAGCCTTCATCATTGCGG	0.567000														130			24		0	0	0.001512	0	0
FGF12	2257	broad.mit.edu	37	3	192078232	192078232	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:192078232C>T	uc003fsx.3	-	1	1121	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	FGF12_uc003fsy.3_Missense_Mutation_p.E37K	NM_021032	NP_066360	P61328	FGF12_HUMAN	Homo sapiens fibroblast growth factor 12 (FGF12), transcript variant 1, mRNA.	99					JNK cascade|cell-cell signaling|heart development|nervous system development|signal transduction	extracellular space|nucleus	growth factor activity|heparin binding			endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247)	Lung NSC(153;0.21)	LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06)	GBM - Glioblastoma multiforme(46;0.00032)		TCGCTGTTTTCGTCCTTGGTC	0.443000														43			6		0	0	0.00116845	0	0
ABCC9	10060	broad.mit.edu	37	12	21995375	21995375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:21995375G>A	uc001rfh.3	-	26	3366	c.3346C>T	c.(3346-3348)Cgc>Tgc	p.R1116C	ABCC9_uc001rfi.1_Missense_Mutation_p.R1116C	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1116	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTGTTGAGCGAGTTAGAGAT	0.423000														33			6		0	0	0.00198382	0	0
KCNQ3	3786	broad.mit.edu	37	8	133182620	133182620	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:133182620C>T	uc003ytj.3	-	7	1421	c.1196G>A	c.(1195-1197)tGg>tAg	p.W399*	KCNQ3_uc003yti.3_Nonsense_Mutation_p.W279*|KCNQ3_uc010mdt.3_Nonsense_Mutation_p.W399*	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	399					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			ATAAAATCTCCATGTCGCCAC	0.532000														43			23		0	0	0.001512	0	0
GFRAL	389400	broad.mit.edu	37	6	55264064	55264064	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:55264064C>T	uc003pcm.1	+	6	1125	c.1039C>T	c.(1039-1041)Ccc>Tcc	p.P347S		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	347						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTTCATTCCCCCTTCAATGG	0.289000														37			8		0	0	0.000157383	0	0
FGFR2	2263	broad.mit.edu	37	10	123310941	123310941	+	Missense_Mutation	SNP	C	T	T	rs67257519		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:123310941C>T	uc021pzz.1	-	4	1134	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	FGFR2_uc021pzv.1_Missense_Mutation_p.E163K|FGFR2_uc021pzw.1_Missense_Mutation_p.E48K|FGFR2_uc021pzx.1_Missense_Mutation_p.E74K|FGFR2_uc021pzy.1_Missense_Mutation_p.E163K|FGFR2_uc010qtl.2_Missense_Mutation_p.E163K|FGFR2_uc010qtm.2_Missense_Mutation_p.E48K|FGFR2_uc021qaa.1_Missense_Mutation_p.E163K|FGFR2_uc021qab.1_Missense_Mutation_p.E74K|FGFR2_uc021qac.1_Missense_Mutation_p.E93K|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Missense_Mutation_p.E182K|FGFR2_uc010qto.2_Missense_Mutation_p.E67K|FGFR2_uc001lfo.1_Missense_Mutation_p.E182K|FGFR2_uc010qtp.2_Missense_Mutation_p.E182K|FGFR2_uc010qtq.2_Missense_Mutation_p.E182K	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	163	Heparin-binding.|Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	AGCCGCTTTTCCATCTTTTCT	0.512000		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome					36			16		0	0	0.000566183	0	0
BTN3A1	11119	broad.mit.edu	37	6	26408020	26408020	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:26408020G>A	uc003nhv.3	+	3	923	c.555G>A	c.(553-555)gaG>gaA	p.E185E	BTN3A1_uc011dkj.2_Silent_p.E185E|BTN3A1_uc010jqj.3_Silent_p.E185E|BTN3A1_uc011dkk.2_Intron	NM_007048	NP_008979	O00481	BT3A1_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A1 (BTN3A1), transcript variant 1, mRNA.	185	Ig-like V-type 2.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						ACAAGGGAGAGAACATCCCGA	0.547000														70			15		0	0	0.000422831	0	0
RP1	6101	broad.mit.edu	37	8	55538573	55538573	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:55538573G>A	uc003xsd.1	+	3	2279	c.2131G>A	c.(2131-2133)Gaa>Aaa	p.E711K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	711					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AATTACAAAGGAAATGATAGT	0.353000														71			7		0	0	0.000157383	0	0
PXDNL	137902	broad.mit.edu	37	8	52320655	52320655	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:52320655C>T	uc003xqu.4	-	16	3630	c.3529G>A	c.(3529-3531)Gat>Aat	p.D1177N	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	1177					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)				ATCTCTGAATCTTTAATTTCA	0.353000														23			25		0	0	0.000720815	0	0
CECR1	51816	broad.mit.edu	37	22	17684577	17684577	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:17684577A>T	uc002zmk.1	-	2	841	c.629T>A	c.(628-630)aTc>aAc	p.I210N	CECR1_uc010gqu.1_Missense_Mutation_p.I210N|CECR1_uc011agi.1_Missense_Mutation_p.I168N|CECR1_uc011agj.1_Missense_Mutation_p.I168N	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	210	Substrate binding.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GGTGAAGAAGATGGTTTCAAA	0.483000														27			6		0	0	0.00116845	0	0
CAPSL	133690	broad.mit.edu	37	5	35904680	35904680	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:35904680G>A	uc003jjt.1	-	4	689	c.594C>T	c.(592-594)ttC>ttT	p.F198F	CAPSL_uc003jju.1_Silent_p.F198F	NM_001042625	NP_653248	Q8WWF8	CAPSL_HUMAN	Homo sapiens calcyphosine-like (CAPSL), transcript variant 2, mRNA.	198						cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCATGATGATGAAGTACACAT	0.478000														70			29		0	0	0.000814825	0	0
TUFM	7284	broad.mit.edu	37	16	28856102	28856102	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:28856102C>T	uc002drh.2	-	4	740	c.601G>A	c.(601-603)Gag>Aag	p.E201K	NPIPL1_uc010vct.2_Intron|TUFM_uc021tft.1_5'Flank|SH2B1_uc002dri.3_5'Flank	NM_003321	NP_003312	P49411	EFTU_HUMAN	Homo sapiens Tu translation elongation factor, mitochondrial (TUFM), nuclear gene encoding mitochondrial protein, mRNA.	198						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						TCCCGGATCTCCAGTTCCACC	0.572000														18			4		0	0	0.00024832	0	0
ZNF143	7702	broad.mit.edu	37	11	9546840	9546840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:9546840G>A	uc001mhr.3	+	14	1859	c.1740G>A	c.(1738-1740)atG>atA	p.M580I	ZNF143_uc009yfu.3_Missense_Mutation_p.M579I|ZNF143_uc010rby.2_Missense_Mutation_p.M549I	NM_003442	NP_003433	P52747	ZN143_HUMAN	Homo sapiens zinc finger protein 143 (ZNF143), mRNA.	580					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		CATCAGAAATGGGGCACCAGC	0.443000														53			20		0	0	0.00229938	0	0
NAMPT	10135	broad.mit.edu	37	7	105913022	105913022	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:105913022A>G	uc003vdq.3	-	3	709	c.401T>C	c.(400-402)gTg>gCg	p.V134A	NAMPT_uc003vdr.1_Missense_Mutation_p.V134A|NAMPT_uc011klu.1_Missense_Mutation_p.V47A	NM_005746	NP_005737	P43490	NAMPT_HUMAN	Homo sapiens nicotinamide phosphoribosyltransferase (NAMPT), mRNA.	134					NAD biosynthetic process|cell-cell signaling|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TGTGTTTTCCACCGTGAAGAG	0.353000														85			6		0	0	0.00116845	0	0
OPHN1	4983	broad.mit.edu	37	X	67316726	67316726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:67316726C>T	uc004dww.4	-	18	1966	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	OPHN1_uc011mpg.2_Missense_Mutation_p.E558K	NM_002547	NP_002538	O60890	OPHN1_HUMAN	Homo sapiens oligophrenin 1 (OPHN1), mRNA.	558	Rho-GAP.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CCAAAGTGCTCGATTAGTATT	0.473000														34			8		0	0	0.000157383	0	0
INSR	3643	broad.mit.edu	37	19	7267804	7267804	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:7267804C>T	uc002mgd.1	-	1	313	c.204G>A	c.(202-204)acG>acA	p.T68T	INSR_uc002mge.1_Silent_p.T68T|INSR_uc002mgf.3_Silent_p.T68T	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	68					G-protein coupled receptor protein signaling pathway|activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of MAPKKK cascade|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|PTB domain binding|SH2 domain binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|receptor signaling protein tyrosine kinase activity			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTTCGGGCCTCGTTTTGAACA	0.507000														232			53		0	0	0.000781405	0	0
TSPAN12	23554	broad.mit.edu	37	7	120446636	120446636	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:120446636G>A	uc003vjk.3	-	6	953	c.579C>T	c.(577-579)gcC>gcT	p.A193A	TSPAN12_uc010lkj.3_Silent_p.A66A	NM_012338	NP_036470	O95859	TSN12_HUMAN	Homo sapiens tetraspanin 12 (TSPAN12), mRNA.	193					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction				endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					CTTCCTGGTGGGCCTGTTTGG	0.408000														43			12		0	0	0.00244969	0	0
FREM1	158326	broad.mit.edu	37	9	14750149	14750149	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:14750149C>T	uc003zlm.3	-	30	6349	c.5533G>A	c.(5533-5535)Gtg>Atg	p.V1845M	FREM1_uc010mic.3_Non-coding_Transcript|FREM1_uc003zlk.3_Intron|FREM1_uc003zll.3_Missense_Mutation_p.V381M	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1845					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		AAAATTTTCACTGCAGCTTTT	0.443000														54			11		0	0	0.00136819	0	0
GLCCI1	113263	broad.mit.edu	37	7	8125931	8125931	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:8125931C>T	uc003srk.3	+	7	1966	c.1407C>T	c.(1405-1407)ctC>ctT	p.L469L		NM_138426	NP_612435	Q86VQ1	GLCI1_HUMAN	Homo sapiens glucocorticoid induced transcript 1 (GLCCI1), mRNA.	469										endometrium(4)|large_intestine(4)|lung(13)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	25		Ovarian(82;0.0608)		UCEC - Uterine corpus endometrioid carcinoma (126;0.206)		TAGGCCCCCTCTTACCTGCTT	0.502000														186			36		0	0	0.00111076	0	0
OR2B6	26212	broad.mit.edu	37	6	27925191	27925191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:27925191C>T	uc011dkx.2	+	0	173	c.173C>T	c.(172-174)cCc>cTc	p.P58L		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTTCATACCCCCATGTATTTT	0.403000														71			12		0	0	0.000566183	0	0
TNRC6C	57690	broad.mit.edu	37	17	76046630	76046630	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:76046630C>T	uc002jud.2	+	3	2087	c.1487C>T	c.(1486-1488)tCc>tTc	p.S496F	TNRC6C_uc002juf.2_Missense_Mutation_p.S496F|TNRC6C_uc002jue.2_Missense_Mutation_p.S496F	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	496	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		RNA binding|nucleotide binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AACGATGGGTCCATCATGAAC	0.522000														47			8		0	0	0.000274275	0	0
MDN1	23195	broad.mit.edu	37	6	90382348	90382348	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:90382348G>A	uc003pnn.1	-	80	13664	c.13548C>T	c.(13546-13548)ctC>ctT	p.L4516L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	4516					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.L4516L(2)		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)		GGATGGCACAGAGGATGGCTC	0.418000														28			13		0	0	0.00136819	0	0
LRP2	4036	broad.mit.edu	37	2	170093615	170093615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:170093615C>T	uc002ues.3	-	27	4902	c.4689G>A	c.(4687-4689)atG>atA	p.M1563I		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1563					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)	AGTCTTACTTCATTCTGGGAT	0.368000														75			24		0	0	0.000586117	0	0
NDOR1	27158	broad.mit.edu	37	9	140109371	140109372	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:140109371_140109372CC>TT	uc004clx.3	+	7	1077_1078	c.966_967CC>TT	c.(964-969)ctccat>ctTTat	p.H323Y	NDOR1_uc004clw.3_Missense_Mutation_p.H323Y|NDOR1_uc011mes.2_Missense_Mutation_p.H323Y|NDOR1_uc004cly.3_Missense_Mutation_p.H289Y	NM_001144026	NP_001137498	Q9UHB4	NDOR1_HUMAN	Homo sapiens NADPH dependent diflavin oxidoreductase 1 (NDOR1), transcript variant 1, mRNA.	323	FAD-binding FR-type.				cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	FMN binding|NADP binding|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GTCTATCCCTCCATGAGCTGGA	0.629000														15			9		0	0	6.4e-05	0	0
ITIH2	3698	broad.mit.edu	37	10	7774395	7774395	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:7774395G>A	uc001ijs.3	+	13	1904	c.1742G>A	c.(1741-1743)aGg>aAg	p.R581K		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	581					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GATTTCACCAGGAAACTGTGG	0.488000														30			4		0	0	0.000602214	0	0
GHR	2690	broad.mit.edu	37	5	42719193	42719193	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:42719193C>T	uc021xxv.1	+	9	1742	c.1605C>T	c.(1603-1605)ttC>ttT	p.F535F	GHR_uc003jmt.3_Silent_p.F528F|GHR_uc003jmu.3_Silent_p.F528F|GHR_uc003jmv.2_Silent_p.F528F|GHR_uc021xxw.1_Silent_p.F528F|GHR_uc021xxx.1_Silent_p.F528F|GHR_uc021xxy.1_Silent_p.F528F|GHR_uc021xxz.1_Silent_p.F528F|GHR_uc021xya.1_Silent_p.F528F|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Silent_p.F341F|GHR_uc021xyd.1_Silent_p.F506F	NM_001242399	NP_001229328	P10912	GHR_HUMAN	Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA.	528					2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAGAAAACTTCCTTATGGACA	0.498000														30			8		0	0	0.000673444	0	0
C1orf101	257044	broad.mit.edu	37	1	244756721	244756721	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:244756721G>A	uc001iam.3	+	15	2273	c.2214G>A	c.(2212-2214)tcG>tcA	p.S738S	C1orf101_uc001iak.1_Silent_p.S292S|C1orf101_uc001ial.3_Silent_p.S738S|C1orf101_uc010pym.2_Silent_p.S587S|C1orf101_uc010pyn.2_Silent_p.S671S	NM_001130957	NP_001124429	Q5SY80	CA101_HUMAN	Homo sapiens chromosome 1 open reading frame 101 (C1orf101), transcript variant 1, mRNA.	738						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ATCAGCCATCGAAAAACTTGG	0.323000														132			22		0	0	0.00127121	0	0
CLDN4	1364	broad.mit.edu	37	7	73245869	73245869	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:73245869C>T	uc003tzi.4	+	0	677	c.338C>T	c.(337-339)gCc>gTc	p.A113V	CLDN4_uc003tzh.1_Non-coding_Transcript	NM_001305	NP_001296	O14493	CLD4_HUMAN	Homo sapiens claudin 4 (CLDN4), mRNA.	113					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GATGAAAGCGCCAAGGCCAAG	0.622000														27			7		0	0	0.000274275	0	0
PCLO	27445	broad.mit.edu	37	7	82785047	82785047	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:82785047G>A	uc003uhx.2	-	1	1199	c.910C>T	c.(910-912)Cca>Tca	p.P304S	PCLO_uc003uhv.2_Missense_Mutation_p.P304S	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	300	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGAATAGGTGGTTTGGATGGG	0.522000														60			10		0	0	0.00244969	0	0
TRAT1	50852	broad.mit.edu	37	3	108549601	108549601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:108549601C>T	uc003dxi.1	+	1	236	c.92C>T	c.(91-93)tCc>tTc	p.S31F	TRAT1_uc010hpx.1_Intron	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	31					T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling	T cell receptor complex|integral to plasma membrane	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.S31F(2)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TTCAATATTTCCCACTATGTG	0.408000														68			16		0	0	0.000958276	0	0
MLLT6	4302	broad.mit.edu	37	17	36874168	36874168	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:36874168T>G	uc002hqi.4	+	11	1917	c.1904T>G	c.(1903-1905)gTt>gGt	p.V635G	MLLT6_uc002hqj.3_Missense_Mutation_p.V70G|MLLT6_uc002hqk.4_5'Flank|MIR4726_uc021twg.1_5'Flank|MLLT6_uc021twh.1_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (MLLT6), mRNA.	635					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					ATGGGTGCCGTTAATCCCCTC	0.557000			T	MLL	AL									82			22		0	0	0.000878237	0	0
ADARB2	105	broad.mit.edu	37	10	1284256	1284256	+	Silent	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:1284256C>G	uc009xhq.3	-	4	1625	c.1299G>C	c.(1297-1299)gcG>gcC	p.A433A		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	433	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCACGACCTCCGCGTGGCAGT	0.692000														9			3		0	0	6.4e-05	0	0
SEMA3E	9723	broad.mit.edu	37	7	83029548	83029548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:83029548C>T	uc003uhy.2	-	10	1783	c.1162G>A	c.(1162-1164)Gga>Aga	p.G388R	SEMA3E_uc022agy.1_Missense_Mutation_p.G328R	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	388	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TATCTCCCTCCATTTACTTTG	0.383000														66			6		0	0	0.00198382	0	0
ALS2	57679	broad.mit.edu	37	2	202570176	202570176	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:202570176C>T	uc002uyo.3	-	29	4945	c.4589G>A	c.(4588-4590)tGg>tAg	p.W1530*	ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	1530	VPS9.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity|protein homodimerization activity|protein serine/threonine kinase activator activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GGTTGCTGGCCAAAATTTCCT	0.323000														66			7		0	0	0.000274275	0	0
MAN2C1	4123	broad.mit.edu	37	15	75652945	75652945	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:75652945G>A	uc002bah.3	-	12	1562	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	MAN2C1_uc010bkk.3_Silent_p.F416F|MAN2C1_uc002baf.3_Silent_p.F515F|MAN2C1_uc002bag.3_Silent_p.F515F|MAN2C1_uc010umi.1_Silent_p.F297F			Q9NTJ4	MA2C1_HUMAN	Homo sapiens mannosidase, alpha, class 2C, member 1 (MAN2C1), mRNA.	515					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GCAGCTCCAAGAAGAGCTCCC	0.587000														47			6		0	0	0.00116845	0	0
COL23A1	91522	broad.mit.edu	37	5	177690306	177690306	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:177690306C>T	uc021yiz.1	-	8	900	c.542G>A	c.(541-543)gGa>gAa	p.G181E	COL23A1_uc021yiy.1_5'UTR|COL23A1_uc010jkt.2_Missense_Mutation_p.E29K	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	181	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	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)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		CCCAGCAGCTCCATCTTGTCC	0.682000														8			3		0	0	0.000602214	0	0
MLL2	8085	broad.mit.edu	37	12	49434979	49434979	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:49434979C>T	uc001rta.4	-	30	6574	c.6574G>A	c.(6574-6576)Gca>Aca	p.A2192T		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2192	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GTGGGCGGTGCCGTGGGGAAG	0.706000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				8			4		0	0	0.000602214	0	0
ITIH2	3698	broad.mit.edu	37	10	7763649	7763649	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:7763649G>A	uc001ijs.3	+	7	938	c.776G>A	c.(775-777)aGa>aAa	p.R259K		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	259					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GCACAGCAGAGAATATGCCCT	0.572000														43			10		0	0	0.000442599	0	0
CNR1	1268	broad.mit.edu	37	6	88854382	88854382	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:88854382C>T	uc010kbz.3	-	1	742	c.612G>A	c.(610-612)gtG>gtA	p.V204V	CNR1_uc011dzr.2_Silent_p.V204V|CNR1_uc011dzs.2_Silent_p.V204V|CNR1_uc003pmq.4_Silent_p.V204V|CNR1_uc011dzt.2_Silent_p.V204V|CNR1_uc010kca.3_Silent_p.V171V|CNR1_uc021zco.1_Silent_p.V204V	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	204					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	ACAGGCTGCCCACGGAGGCAG	0.557000														20			8		0	0	0.000274275	0	0
OR2AK2	391191	broad.mit.edu	37	1	248129444	248129444	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248129444C>T	uc010pzd.2	+	0	811	c.811C>T	c.(811-813)Ctc>Ttc	p.L271F	OR2L13_uc001ids.3_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TGCAACCACTCTCTTTACCTA	0.478000														21			6		0	0	0.000274275	0	0
AQPEP	206338	broad.mit.edu	37	5	115336309	115336309	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:115336309C>T	uc003kro.3	+	8	1765	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F	AQPEP_uc003krp.3_Non-coding_Transcript|AQPEP_uc003krs.3_Non-coding_Transcript|AQPEP_uc003krq.3_Non-coding_Transcript|AQPEP_uc003krr.3_Non-coding_Transcript	NM_173800	NP_776161	Q6Q4G3	AMPQ_HUMAN	Homo sapiens laeverin (AQPEP), mRNA.	534					proteolysis	integral to membrane	metallopeptidase activity|zinc ion binding										AAGACATTTTCCTACTCAAAC	0.343000														62			13		0	0	0.00244969	0	0
ZNF407	55628	broad.mit.edu	37	18	72589276	72589276	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:72589276C>T	uc002llw.2	+	3	5054	c.5001C>T	c.(4999-5001)ttC>ttT	p.F1667F	ZNF407_uc010dqu.2_Silent_p.F1667F	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1667					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ATTACTCATTCCTCACAGCCT	0.547000														54			10		0	0	0.00244969	0	0
LYPD2	137797	broad.mit.edu	37	8	143833821	143833821	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:143833821C>T	uc003ywz.3	-	0	132	c.49G>A	c.(49-51)Gga>Aga	p.G17R		NM_205545	NP_991108	Q6UXB3	LYPD2_HUMAN	Homo sapiens LY6/PLAUR domain containing 2 (LYPD2), mRNA.	17						anchored to membrane|plasma membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CCCAGCTCTCCGCAGGCAGCC	0.706000														40			10		0	0	0.000978159	0	0
ASXL1	171023	broad.mit.edu	37	20	31021701	31021701	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:31021701C>T	uc021wbw.1	+	11	2132	c.1700C>T	c.(1699-1701)cCc>cTc	p.P567L	ASXL1_uc002wxs.3_Missense_Mutation_p.P566L|ASXL1_uc010geb.3_Missense_Mutation_p.P458L	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	567					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AAAGAGGAGCCCAAAGTCCCG	0.512000			"""F, N, Mis"""		"""MDS, CMML"""									38			17		0	0	0.00121646	0	0
LEPR	3953	broad.mit.edu	37	1	66101927	66101927	+	Silent	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:66101927T>C	uc001dci.3	+	19	3116	c.2727T>C	c.(2725-2727)ggT>ggC	p.G909G	LEPR_uc009waq.3_3'UTR	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	909					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)		TGACATGTGGTCCTCTTCTTT	0.348000														134			36		0	0	0.00195071	0	0
PLEKHM1	9842	broad.mit.edu	37	17	43555385	43555385	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:43555385G>A	uc002ija.3	-	2	347	c.177C>T	c.(175-177)atC>atT	p.I59I	PLEKHM1_uc010wjm.2_Intron|PLEKHM1_uc002ijb.3_5'UTR|PLEKHM1_uc010wjn.1_Intron|PLEKHM1_uc021tym.1_5'Flank	NM_014798	NP_055613	Q9Y4G2	PKHM1_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 1 (PLEKHM1), transcript variant 1, mRNA.	59	RUN.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GCAGGCCATGGATAAATACGG	0.592000														19			5		0	0	0.00198382	0	0
MUC5B	727897	broad.mit.edu	37	11	1251278	1251278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:1251278C>T	uc001lta.3	+	10	1323	c.1264C>T	c.(1264-1266)Cct>Tct	p.P422S	MUC5B_uc021qbr.1_Intron|MUC5B_uc009yct.2_Missense_Mutation_p.P422S	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	422					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)		CCTGCCGTGCCCTGGCACCTG	0.652000														16			4		0	0	0.00024832	0	0
OR7D2	162998	broad.mit.edu	37	19	9296777	9296777	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9296777T>A	uc002mkz.1	+	0	508	c.320T>A	c.(319-321)tTt>tAt	p.F107Y		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	107					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TCCATGTTTTTTCCTATTCTG	0.512000														69			20		0	0	0.00152264	0	0
ILKAP	80895	broad.mit.edu	37	2	239103470	239103470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:239103470G>A	uc002vxv.3	-	1	227	c.97C>T	c.(97-99)Cct>Tct	p.P33S	ILKAP_uc010zns.2_5'UTR|ILKAP_uc002vxw.3_5'UTR|ILKAP_uc021vyt.1_Non-coding_Transcript|ILKAP_uc021vyu.1_Missense_Mutation_p.P33S|ILKAP_uc010znt.1_5'UTR	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	Homo sapiens integrin-linked kinase-associated serine/threonine phosphatase (ILKAP), mRNA.	33						cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		CTGGCCGGAGGGAGGTCATCA	0.473000														25			23		0	0	0.000878237	0	0
abParts	0	broad.mit.edu	37	14	106967307	106967307	+	RNA	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:106967307C>T	uc021ser.1	-	263		c.10193G>A								Parts of antibodies, mostly variable regions.																		CCCCAGGCTTCTTCACCTCAG	0.557000														17			6		0	0	0.00198382	0	0
CTNNA2	1496	broad.mit.edu	37	2	80835355	80835355	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:80835355G>A	uc010ysh.2	+	15	2347	c.2342G>A	c.(2341-2343)cGa>cAa	p.R781Q	CTNNA2_uc010yse.2_Missense_Mutation_p.R781Q|CTNNA2_uc010ysf.2_Missense_Mutation_p.R781Q|CTNNA2_uc010ysg.2_Intron|CTNNA2_uc010ysi.2_Missense_Mutation_p.R413Q|CTNNA2_uc010ysj.2_Missense_Mutation_p.R110Q	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	781					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						TACCTTCAACGAATTGCCTTG	0.413000														20			8		0	0	0.000157383	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41061692	41061693	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:41061692_41061693GG>AA	uc003jmj.4	-	5	1084_1085	c.594_595CC>TT	c.(592-597)gcccct>gcTTct	p.P199S	HEATR7B2_uc021xxt.1_Missense_Mutation_p.P199S	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	199							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GAGGCCAAAGGGGCCCACTTCT	0.485000														133			15		0	0	6.4e-05	0	0
TNFRSF21	27242	broad.mit.edu	37	6	47251714	47251715	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:47251714_47251715GG>AA	uc003oyv.3	-	2	1635_1636	c.1202_1203CC>TT	c.(1201-1203)acc>aTT	p.T401I		NM_014452	NP_055267	O75509	TNR21_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 21 (TNFRSF21), mRNA.	401					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CCCGGTTCTGGGTTGGAGTCAT	0.525000														68			10		0	0	6.4e-05	0	0
PRKCB	5579	broad.mit.edu	37	16	24196822	24196822	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:24196822C>T	uc002dmd.3	+	14	1853	c.1656C>T	c.(1654-1656)tcC>tcT	p.S552S	PRKCB_uc002dme.3_Silent_p.S552S	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	552	Protein kinase.				B cell activation|B cell receptor signaling pathway|apoptosis|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	ATP binding|androgen receptor binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TCTTCCAATCCATCATGGAAC	0.522000														40			10		0	0	0.000978159	0	0
TTN	7273	broad.mit.edu	37	2	179588245	179588245	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179588245C>T	uc021vsy.1	-	70	18075	c.17850G>A	c.(17848-17850)ctG>ctA	p.L5950L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L2611L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6877	Ig-like 40.						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)			TAAATAATTCCAGTTCTGCCA	0.453000														12			9		0	0	0.000274275	0	0
CWH43	80157	broad.mit.edu	37	4	49063860	49063860	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:49063860G>A	uc003gyv.3	+	15	2235	c.2053G>A	c.(2053-2055)Gaa>Aaa	p.E685K	CWH43_uc011bzl.2_Missense_Mutation_p.E658K	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	685					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						ACACAATTATGAAAACAACCA	0.259000														51			15		0	0	0.00121646	0	0
PPYR1	5540	broad.mit.edu	37	10	47087590	47087590	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:47087590G>A	uc001jee.3	+	2	1226	c.807G>A	c.(805-807)gtG>gtA	p.V269V	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.V269V|PPYR1_uc021ppu.1_Silent_p.V269V	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	269					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGCTGGTGGTGATGGTGGTGG	0.607000														37			6		0	0	0.00198382	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651176	121651176	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:121651176C>T	uc003vjy.3	+	11	2471	c.2076C>T	c.(2074-2076)tcC>tcT	p.S692S	PTPRZ1_uc011knt.2_Silent_p.S692S|PTPRZ1_uc003vjz.3_Silent_p.S692S	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	692					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						CAACCAAGTCCTTTTCTGCAG	0.468000														34			4		0	0	0.000602214	0	0
CST4	1472	broad.mit.edu	37	20	23667728	23667728	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:23667728C>T	uc002wto.1	-	1	395	c.339G>A	c.(337-339)caG>caA	p.Q113Q		NM_001899	NP_001890	P01036	CYTS_HUMAN	Homo sapiens cystatin S (CST4), mRNA.	113						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					AACGTACCTTCTGCAGTTCTG	0.567000														70			14		0	0	0.00152264	0	0
NGEF	25791	broad.mit.edu	37	2	233785141	233785141	+	Silent	SNP	C	T	T	rs146092866		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:233785141C>T	uc002vts.2	-	4	929	c.681G>A	c.(679-681)ccG>ccA	p.P227P	NGEF_uc010fyg.1_Silent_p.P135P|NGEF_uc002vtt.2_Silent_p.P135P	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.	227	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GTGGGCTGGCCGGctcctcct	0.592000														36			16		0	0	0.000422831	0	0
MUC16	94025	broad.mit.edu	37	19	9085999	9085999	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9085999G>A	uc002mkp.3	-	0	6020	c.5816C>T	c.(5815-5817)tCa>tTa	p.S1939L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1939	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						TGGAATGGATGAAAAAGGCAA	0.488000														15			4		0	0	0.000602214	0	0
EXOC6	54536	broad.mit.edu	37	10	94712135	94712136	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:94712135_94712136CG>AT	uc010qnr.2	+	15	1713_1714	c.1570_1571CG>AT	c.(1570-1572)cgg>ATg	p.R524M	EXOC6_uc001kie.3_Missense_Mutation_p.R503M|EXOC6_uc001kig.3_Missense_Mutation_p.R508M|EXOC6_uc009xub.3_Missense_Mutation_p.R507M|EXOC6_uc009xuc.3_Missense_Mutation_p.R405M|EXOC6_uc001kih.3_Non-coding_Transcript|EXOC6_uc001kii.3_Missense_Mutation_p.R82M	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA.	508					protein transport|vesicle docking involved in exocytosis	exocyst		p.R508R(1)|p.R503R(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GTCACTACACCGGAGGTGAGTT	0.302000														255			10		0	0	6.4e-05	0	0
CELSR2	1952	broad.mit.edu	37	1	109793362	109793362	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:109793362G>A	uc001dxa.4	+	0	722	c.661G>A	c.(661-663)Gat>Aat	p.D221N		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	221	Cadherin 1.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding	p.M220T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTACACCATGGATGCCCTCTT	0.617000														110			35		0	0	0.000692331	0	0
MXRA5	25878	broad.mit.edu	37	X	3229307	3229307	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:3229307C>T	uc004crg.4	-	6	7094	c.6937G>A	c.(6937-6939)Gaa>Aaa	p.E2313K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2313	Ig-like C2-type 7.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ATCCCCACTTCGTTAAAGTAG	0.552000														64			15		0	0	0.000566183	0	0
C5orf20	140947	broad.mit.edu	37	5	134782185	134782185	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:134782185G>A	uc003lav.3	-	0	854	c.614C>T	c.(613-615)tCg>tTg	p.S205L		NM_130848	NP_570900	Q8TF63	DCNP1_HUMAN	Homo sapiens chromosome 5 open reading frame 20 (C5orf20), mRNA.	205	Ser-rich.					nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TATCAAGTGCGAAGACCAGGC	0.537000														33			11		0	0	0.000673444	0	0
BUB1B	701	broad.mit.edu	37	15	40498544	40498544	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:40498544C>T	uc001zkx.4	+	14	2106	c.1894C>T	c.(1894-1896)Cct>Tct	p.P632S	BUB1B_uc010ucl.1_Missense_Mutation_p.P500S	NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	632					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		GAAGGATCTCCCTTCTGATCC	0.453000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome					42			13		0	0	0.00185496	0	0
TRIM24	8805	broad.mit.edu	37	7	138189106	138189106	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:138189106A>C	uc003vuc.3	+	1	651	c.436A>C	c.(436-438)Aag>Cag	p.K146Q	TRIM24_uc003vub.3_Missense_Mutation_p.K146Q|TRIM24_uc022amn.1_Missense_Mutation_p.K104Q	NM_015905	NP_056989	O15164	TIF1A_HUMAN	Homo sapiens tripartite motif containing 24 (TRIM24), transcript variant 1, mRNA.	146					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	p.K146N(1)|p.K146K(1)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CTTTTTTGTGAAGGACACTAC	0.373000														138			18		0	0	0.000566183	0	0
C5orf25	375484	broad.mit.edu	37	5	175772235	175772235	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:175772235G>A	uc003mds.4	+	11	2813	c.2406G>A	c.(2404-2406)agG>agA	p.R802R	C5orf25_uc003mdr.3_Non-coding_Transcript|C5orf25_uc003mdt.4_Silent_p.R387R|C5orf25_uc003mdv.3_Silent_p.R263R			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	802												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)		TAATCAAAAGGATTAAGCCCA	0.483000														62			18		0	0	0.000958276	0	0
HNF1A	6927	broad.mit.edu	37	12	121431351	121431351	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:121431351G>A	uc001tzg.3	+	2	578	c.555G>A	c.(553-555)ctG>ctA	p.L185L	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Silent_p.L185L|HNF1A_uc001tzf.3_Silent_p.L185L|HNF1A_uc010szn.2_Silent_p.L185L|HNF1A_uc021rfa.1_Silent_p.L185L|HNF1A_uc021rfb.1_Silent_p.L57L|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	185					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGGAGGGCTGATTGAAGAGC	0.597000									Hepatic Adenoma, Familial Clustering of					97			28		0	0	0.001512	0	0
FBXO39	162517	broad.mit.edu	37	17	6684060	6684060	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:6684060G>A	uc010vtg.2	+	1	993	c.873G>A	c.(871-873)cgG>cgA	p.R291R		NM_153230	NP_694962	Q8N4B4	FBX39_HUMAN	Homo sapiens F-box protein 39 (FBXO39), mRNA.	291										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						TCTTTGAACGGATCATGAAGT	0.542000														11			12		0	0	0.00136819	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040907	147040907	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:147040907G>A	uc010jgo.1	-	1	379	c.231C>T	c.(229-231)ctC>ctT	p.L77L	JAKMIP2_uc003loq.1_Silent_p.L77L|JAKMIP2_uc011dbx.1_Silent_p.L35L|JAKMIP2_uc003lor.1_Silent_p.L77L|LOC153469_uc003lop.1_3'UTR	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	77						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTCCTCATGGAGCTTGGCTT	0.512000														77			21		0	0	0.00188189	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56734019	56734020	+	Missense_Mutation	DNP	TC	AT	AT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:56734019_56734020TC>AT	uc002qmq.3	-	3	845_846	c.679_680GA>AT	c.(679-681)gaa>ATa	p.E227I	ZSCAN5A_uc010ygi.2_Missense_Mutation_p.E110I|ZSCAN5A_uc002qmr.3_Missense_Mutation_p.E227I|ZSCAN5A_uc002qms.1_Missense_Mutation_p.E227I	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	227					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TTCCCTGTTTTCCTTCAGATCC	0.510000														59			19		0	0	6.4e-05	0	0
LPIN3	64900	broad.mit.edu	37	20	39978903	39978904	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:39978903_39978904CC>TT	uc010ggh.3	+	6	1062_1063	c.971_972CC>TT	c.(970-972)acc>aTT	p.T324I	LPIN3_uc002xjx.3_Missense_Mutation_p.T323I|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	323					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				CCTCTCCACACCCCAGAGACAG	0.609000														19			4		0	0	6.4e-05	0	0
SGMS1	259230	broad.mit.edu	37	10	52103686	52103686	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:52103686C>T	uc001jje.3	-	6	1143	c.189G>A	c.(187-189)atG>atA	p.M63I	SGMS1_uc010qhk.2_Intron|SGMS1_uc009xot.1_Intron|SGMS1_uc021pqq.1_Missense_Mutation_p.M63I|SGMS1_uc021pqr.1_Intron|SGMS1_uc009xou.1_Missense_Mutation_p.M63I|SGMS1_uc021pqo.1_Missense_Mutation_p.M63I|SGMS1_uc021pqp.1_Non-coding_Transcript	NM_147156	NP_671512	Q86VZ5	SMS1_HUMAN	Homo sapiens sphingomyelin synthase 1 (SGMS1), mRNA.	69	SAM.				apoptosis|cell growth|sphingomyelin biosynthetic process	Golgi trans cisterna|endoplasmic reticulum|integral to Golgi membrane|nucleus|plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GGGTTTCTATCATGTCCAGGA	0.532000														21			9		0	0	0.000442599	0	0
STK36	27148	broad.mit.edu	37	2	219559038	219559038	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:219559038C>T	uc002viu.3	+	19	2667	c.2388C>T	c.(2386-2388)gtC>gtT	p.V796V	STK36_uc002viv.3_Silent_p.V796V|STK36_uc002vix.3_5'Flank	NM_015690	NP_056505	Q9NRP7	STK36_HUMAN	Homo sapiens serine/threonine kinase 36 (STK36), transcript variant 1, mRNA.	796					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)		ATTCGCATGTCGTCTCTCTTG	0.463000														82			19		0	0	0.00188189	0	0
LRRC66	339977	broad.mit.edu	37	4	52860816	52860816	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:52860816T>A	uc003gzi.3	-	3	2379	c.2372A>T	c.(2371-2373)gAa>gTa	p.E791V		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	791						integral to membrane		p.E791*(2)|p.L790L(1)		central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						AGAGGCATTTTCCAGATGAGT	0.478000														13			9		0	0	0.000274275	0	0
GLDC	2731	broad.mit.edu	37	9	6587222	6587222	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:6587222C>T	uc003zkc.3	-	14	1962	c.1769G>A	c.(1768-1770)gGa>gAa	p.G590E		NM_000170	NP_000161	P23378	GCSP_HUMAN	Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	590					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CTGCTGATATCCTTGAGCTTG	0.403000														56			25		0	0	0.000586117	0	0
ATP8A1	10396	broad.mit.edu	37	4	42457419	42457419	+	Silent	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:42457419A>T	uc003gwr.2	-	28	2944	c.2712T>A	c.(2710-2712)ccT>ccA	p.P904P	ATP8A1_uc003gwq.2_Silent_p.P130P|ATP8A1_uc003gws.2_Silent_p.P889P	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	904					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.M903V(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GAGTTAAAGGAGGCATTGCTG	0.393000														50			9		0	0	0.000442599	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147019290	147019290	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:147019290G>A	uc010jgo.1	-	8	1583	c.1435C>T	c.(1435-1437)Cga>Tga	p.R479*	JAKMIP2_uc003loq.1_Nonsense_Mutation_p.R479*|JAKMIP2_uc011dbx.1_Nonsense_Mutation_p.R437*|JAKMIP2_uc003lor.1_Nonsense_Mutation_p.R479*|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	479						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTAATTGTCGAAATCTTAGT	0.423000														98			14		0	0	0.000566183	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179306087	179306087	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:179306087G>A	uc003mlh.3	-	8	1562	c.1527C>T	c.(1525-1527)atC>atT	p.I509I	TBC1D9B_uc003mli.3_Silent_p.I509I|TBC1D9B_uc003mlj.3_Silent_p.I509I	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	509	Rab-GAP TBC.					integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCTCTCAGGGATACCCTTCA	0.627000														19			4		0	0	0.00116845	0	0
L3MBTL4	91133	broad.mit.edu	37	18	6213171	6213171	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:6213171C>T	uc002kmz.4	-	11	1118	c.958G>A	c.(958-960)Gat>Aat	p.D320N	L3MBTL4_uc002kmy.4_Missense_Mutation_p.D320N|L3MBTL4_uc010dkt.3_Missense_Mutation_p.D320N	NM_173464	NP_775735	Q8NA19	LMBL4_HUMAN	Homo sapiens l(3)mbt-like 4 (Drosophila) (L3MBTL4), mRNA.	320					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				TCATCAACATCTACAATCGTA	0.333000														55			6		0	0	0.00198382	0	0
COPS5	10987	broad.mit.edu	37	8	67969657	67969657	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:67969657G>A	uc003xxf.3	-	5	839	c.666C>T	c.(664-666)tcC>tcT	p.S222S	COPS5_uc003xxd.3_Silent_p.S113S|COPS5_uc003xxe.3_Silent_p.S177S|COPS5_uc010lyu.1_Non-coding_Transcript|COPS5_uc010lyv.1_Silent_p.S177S			Q92905	CSN5_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 5 (Arabidopsis) (COPS5), mRNA.	177					cullin deneddylation|transcription from RNA polymerase II promoter	eukaryotic translation initiation factor 3 complex|signalosome	metal ion binding|metallopeptidase activity|protein binding|transcription coactivator activity|translation initiation factor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(3)	14	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00389)|OV - Ovarian serous cystadenocarcinoma(28;0.00691)|all cancers(69;0.0205)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CTTTCCCTGCGGATATTGTTC	0.328000														179			63		0	0	0.000781405	0	0
DNAH11	8701	broad.mit.edu	37	7	21742383	21742383	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:21742383C>T	uc003svc.3	+	37	6288	c.6257C>T	c.(6256-6258)tCt>tTt	p.S2086F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2086					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTGGCTGGATCTCTGAAACGA	0.398000									Kartagener syndrome					32			5		0	0	0.00116845	0	0
SLAMF7	57823	broad.mit.edu	37	1	160721991	160721991	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:160721991G>A	uc001fwq.3	+	5	904	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	SLAMF7_uc010pjn.2_Missense_Mutation_p.E203K|SLAMF7_uc001fws.3_Missense_Mutation_p.E190K|SLAMF7_uc001fwr.3_Missense_Mutation_p.G262E|SLAMF7_uc010pjo.2_Missense_Mutation_p.E166K|SLAMF7_uc010pjp.2_Missense_Mutation_p.E150K|SLAMF7_uc010pjq.2_Missense_Mutation_p.G131E|SLAMF7_uc010pjr.2_Missense_Mutation_p.G115E	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	Homo sapiens SLAM family member 7 (SLAMF7), mRNA.	297					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			AATCCTAAAGGAAGATCCAGC	0.378000														47			7		0	0	0.000442599	0	0
GYS2	2998	broad.mit.edu	37	12	21695464	21695464	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:21695464G>A	uc001rfb.3	-	12	1866	c.1611C>T	c.(1609-1611)ttC>ttT	p.F537F		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	537					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCTCCTGCATGAAACAGCCAA	0.522000														15			7		0	0	0.000157383	0	0
NPSR1	387129	broad.mit.edu	37	7	34867176	34867176	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:34867176G>A	uc003teh.1	+	4	770	c.642G>A	c.(640-642)gtG>gtA	p.V214V	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.V214V|NPSR1_uc010kwt.1_Silent_p.V61V|NPSR1_uc010kwu.1_Silent_p.V4V|NPSR1_uc010kwv.1_Silent_p.V148V|NPSR1_uc003tei.1_Silent_p.V214V|NPSR1_uc010kww.1_Silent_p.V203V|NPSR1_uc011kar.1_Silent_p.V148V|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	214						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)	TGACCATCGTGGCCTTCCTGG	0.582000														70			10		0	0	0.000978159	0	0
MFSD9	84804	broad.mit.edu	37	2	103340299	103340300	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:103340299_103340300GG>AA	uc002tcb.2	-	4	564_565	c.496_497CC>TT	c.(496-498)ccg>TTg	p.P166L	MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Missense_Mutation_p.P105L	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	166					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						GATTACAAGCGGCCGTTCCTTC	0.495000														45			13		0	0	6.4e-05	0	0
UBE4B	10277	broad.mit.edu	37	1	10166332	10166332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:10166332C>T	uc021ogc.1	+	6	1575	c.887C>T	c.(886-888)cCt>cTt	p.P296L	UBE4B_uc001aqs.4_Missense_Mutation_p.P296L|UBE4B_uc001aqr.4_Intron|UBE4B_uc010oai.2_Intron|UBE4B_uc010oaj.2_Intron	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	296					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTTGCCTCACCTTCCCGTGCA	0.597000														26			17		0	0	0.00074312	0	0
MNT	4335	broad.mit.edu	37	17	2290583	2290583	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:2290583G>A	uc002fur.3	-	5	1613	c.1361C>T	c.(1360-1362)aCt>aTt	p.T454I		NM_020310	NP_064706	Q99583	MNT_HUMAN	Homo sapiens MAX binding protein (MNT), mRNA.	454					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		GTGGTTCACAGTCTGGATGAC	0.687000														25			13		0	0	0.000422831	0	0
SLAMF8	56833	broad.mit.edu	37	1	159799849	159799849	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:159799849C>T	uc001fue.4	+	1	444	c.234C>T	c.(232-234)ggC>ggT	p.G78G		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	78						integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					GCTTCCTGGGCCGAGCCCAGC	0.617000														54			6		0	0	0.000157383	0	0
GLP1R	2740	broad.mit.edu	37	6	39024171	39024171	+	Splice_Site	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:39024171A>C	uc003ooj.4	+	2	139	c.79_splice	c.e2-2	p.G27_splice	GLP1R_uc003ooh.2_Splice_Site|GLP1R_uc003ooi.2_Splice_Site	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	27					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CCCTCCCCCCAGGGTGCCACT	0.607000														14			4		0	0	0.00116845	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140176221	140176221	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140176221G>A	uc003lhd.2	+	0	1778	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.E558K|PCDHAC2_uc011czy.2_Missense_Mutation_p.E558K	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	572	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTGGACGAGAACGACAA	0.687000														37			7		0	0	0.000442599	0	0
PLXNA4	91584	broad.mit.edu	37	7	131866180	131866180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:131866180C>T	uc003vra.4	-	17	3681	c.3452G>A	c.(3451-3453)gGa>gAa	p.G1151E		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1151	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCCAGGATTCCTGAGGGACC	0.577000														112			7		0	0	0.000442599	0	0
ST7L	54879	broad.mit.edu	37	1	113140610	113140610	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:113140610A>T	uc001ecd.3	-	4	910	c.605T>A	c.(604-606)tTa>tAa	p.L202*	ST7L_uc009wgh.3_Non-coding_Transcript|ST7L_uc001ecc.3_Nonsense_Mutation_p.L19*|ST7L_uc010owg.2_Intron|ST7L_uc010owh.2_Intron|ST7L_uc001ecf.3_Nonsense_Mutation_p.L185*|ST7L_uc001ece.3_Nonsense_Mutation_p.L202*|ST7L_uc001ecg.3_Non-coding_Transcript|ST7L_uc010owi.2_Nonsense_Mutation_p.L137*|ST7L_uc001ech.3_Nonsense_Mutation_p.L185*|ST7L_uc001eci.3_Nonsense_Mutation_p.L202*|ST7L_uc009wgi.1_Non-coding_Transcript|ST7L_uc010owj.1_Nonsense_Mutation_p.L185*	NM_017744	NP_060214	Q8TDW4	ST7L_HUMAN	Homo sapiens suppression of tumorigenicity 7 like (ST7L), transcript variant 1, mRNA.	202					negative regulation of cell growth	integral to membrane	binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(1)|prostate(2)|stomach(1)|urinary_tract(3)	15	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGAAGGACGTAAAAAATCTGT	0.353000														61			55		0	0	0.000781405	0	0
OR4C16	219428	broad.mit.edu	37	11	55340154	55340154	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:55340154A>T	uc010rih.2	+	0	551	c.551A>T	c.(550-552)aAa>aTa	p.K184I		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CCCTTGTTGAAACAAGCCTGT	0.433000														36			11		0	0	0.000978159	0	0
EFNB3	1949	broad.mit.edu	37	17	7611847	7611847	+	Splice_Site	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7611847T>G	uc002gis.3	+	3	905	c.508_splice	c.e3+2	p.S170_splice		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	Homo sapiens ephrin-B3 (EFNB3), mRNA.	170					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TGGGACAAAGTGAGTGGGGCT	0.627000														12			3		0	0	6.4e-05	0	0
KIAA0586	9786	broad.mit.edu	37	14	58953857	58953857	+	Missense_Mutation	SNP	C	T	T	rs77810875		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:58953857C>T	uc010trr.2	+	23	3680	c.3436C>T	c.(3436-3438)Cct>Tct	p.P1146S	KIAA0586_uc001xdu.4_Missense_Mutation_p.P1078S|KIAA0586_uc010trs.2_Missense_Mutation_p.P1008S|KIAA0586_uc001xdt.4_Missense_Mutation_p.P1049S|KIAA0586_uc001xdv.4_Missense_Mutation_p.P1017S|KIAA0586_uc010trt.2_Missense_Mutation_p.P953S|KIAA0586_uc010tru.1_Missense_Mutation_p.P953S	NM_001244189	NP_001231118	E9PGW8	E9PGW8_HUMAN	Homo sapiens KIAA0586 (KIAA0586), transcript variant 1, mRNA.	1017										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TATGGCTTTTCCTGTGAAAGA	0.368000														37			12		0	0	0.000308642	0	0
BNC2	54796	broad.mit.edu	37	9	16552729	16552729	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:16552729G>A	uc003zml.3	-	4	608	c.468C>T	c.(466-468)caC>caT	p.H156H	BNC2_uc011lmw.2_Silent_p.H61H|BNC2_uc003zmm.3_Silent_p.H114H|BNC2_uc003zmq.1_Silent_p.H170H|BNC2_uc003zmr.1_Silent_p.H193H|BNC2_uc003zmp.1_Silent_p.H184H|BNC2_uc010mij.1_Silent_p.H78H|BNC2_uc011lmv.2_5'UTR|BNC2_uc003zmo.1_Silent_p.H78H	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CTTGGGTGGGGTGGTACAGGT	0.542000														30			5		0	0	0.00116845	0	0
TAS2R60	338398	broad.mit.edu	37	7	143140874	143140874	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:143140874C>T	uc011ktg.2	+	0	329	c.329C>T	c.(328-330)tCc>tTc	p.S110F	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	110					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					ACCTTATGGTCCTCTACCTGG	0.483000														135			17		0	0	0.000958276	0	0
SLC6A9	6536	broad.mit.edu	37	1	44466677	44466677	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:44466677G>A	uc001cll.3	-	10	1797	c.1605C>T	c.(1603-1605)tcC>tcT	p.S535S	SLC6A9_uc009vxe.2_Silent_p.S391S|SLC6A9_uc010okm.1_Silent_p.S462S|SLC6A9_uc001clm.3_Silent_p.S481S|SLC6A9_uc009vxd.3_Non-coding_Transcript|SLC6A9_uc010okn.2_Silent_p.S466S|SLC6A9_uc010oko.2_Silent_p.S351S|SLC6A9_uc001cln.3_Silent_p.S462S|SLC6A9_uc010okp.1_Non-coding_Transcript	NM_201649	NP_964012	P48067	SC6A9_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 9 (SLC6A9), transcript variant 2, mRNA.	535						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.G534R(1)		endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TGACCACCAAGGAGAAGCTGG	0.652000														18			12		0	0	0.00136819	0	0
MYO1F	4542	broad.mit.edu	37	19	8616642	8616642	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:8616642G>A	uc002mkg.3	-	7	891	c.753C>T	c.(751-753)agC>agT	p.S251S	MYO1F_uc010xkf.2_3'UTR	NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	251	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						CACCAAAGTCGCTTCTGTCGT	0.577000														31			7		0	0	0.00198382	0	0
KCNJ3	3760	broad.mit.edu	37	2	155566249	155566249	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:155566249C>T	uc002tyv.1	+	1	1032	c.837C>T	c.(835-837)ccC>ccT	p.P279P	KCNJ3_uc010zce.1_Intron|KCNJ3_uc021vrh.1_Silent_p.P279P	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	279					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	CCAAAAGCCCCTTTTATGACC	0.443000														35			13		0	0	0.00185496	0	0
XYLT1	64131	broad.mit.edu	37	16	17221635	17221635	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:17221635G>A	uc002dfa.3	-	9	2196	c.2111C>T	c.(2110-2112)gCt>gTt	p.A704V		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	704					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CAGATTGGTAGCATGATGCTT	0.522000														62			22		0	0	0.000720815	0	0
ASNS	440	broad.mit.edu	37	7	97498267	97498267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:97498267G>A	uc003uot.4	-	2	708	c.202C>T	c.(202-204)Ccg>Tcg	p.P68S	ASNS_uc011kin.2_Intron|ASNS_uc011kio.2_Missense_Mutation_p.P47S|ASNS_uc003uou.4_Missense_Mutation_p.P68S|ASNS_uc003uov.4_Missense_Mutation_p.P68S|ASNS_uc003uox.4_Intron	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	68	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	ATP binding|asparagine synthase (glutamine-hydrolyzing) activity			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CACAAATACGGATATTTCTTC	0.433000														96			8		0	0	0.000673444	0	0
APOB	338	broad.mit.edu	37	2	21228765	21228765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:21228765G>A	uc002red.3	-	25	11103	c.10975C>T	c.(10975-10977)Ctt>Ttt	p.L3659F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3659					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	p.H3658P(1)		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)	GCAATGTCAAGGTGTGCCTTT	0.438000														126			73		0	0	0.000781405	0	0
MAGEL2	54551	broad.mit.edu	37	15	23890471	23890471	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:23890471G>A	uc001ywj.4	-	0	2523	c.2419C>T	c.(2419-2421)Ccc>Tcc	p.P807S		NM_019066	NP_061939			Homo sapiens MAGE-like 2 (MAGEL2), mRNA.											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		GCAGCAGAGGGGCCTTTAAAG	0.577000														61			15		0	0	0.000308642	0	0
MYB	4602	broad.mit.edu	37	6	135517065	135517065	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:135517065C>T	uc003qfh.3	+	8	1327	c.1128C>T	c.(1126-1128)atC>atT	p.I376I	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Non-coding_Transcript|MYB_uc003qfk.3_Non-coding_Transcript|MYB_uc003qfc.3_Silent_p.I376I|MYB_uc003qfr.3_Non-coding_Transcript|MYB_uc003qft.3_Non-coding_Transcript|MYB_uc003qfs.3_Silent_p.I2I|MYB_uc003qfw.3_Silent_p.I188I|MYB_uc010kgi.3_Silent_p.I376I|MYB_uc003qfq.3_Silent_p.I373I|MYB_uc010kgj.3_Silent_p.I341I|MYB_uc003qfo.3_Intron|MYB_uc003qfu.3_Silent_p.I373I|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Intron|MYB_uc003qfv.3_Non-coding_Transcript|MYB_uc003qfz.3_Intron|MYB_uc003qfx.3_Intron|MYB_uc003qga.3_Non-coding_Transcript|MYB_uc003qgb.3_Non-coding_Transcript|MYB_uc010kgk.3_Non-coding_Transcript|MYB_uc003qfd.3_Intron|MYB_uc003qfi.3_Silent_p.I376I|MYB_uc003qfe.3_Intron|MYB_uc003qfg.3_Non-coding_Transcript|MYB_uc003qff.3_Non-coding_Transcript|MYB_uc003qfj.3_Intron|MYB_uc003qfm.3_Intron|MYB_uc003qgc.3_Non-coding_Transcript|MYB_uc003qfb.1_Silent_p.I376I|MYB_uc003qge.1_Non-coding_Transcript	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	376	Leucine-zipper.|Negative regulatory domain (By similarity).				blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of T-helper cell differentiation|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GGTGCATGATCGTCCACCAGG	0.478000			T	NFIB	adenoid cystic carcinoma									18			10		0	0	0.000442599	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99654869	99654869	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:99654869C>T	uc003uso.3	+	1	384	c.240C>T	c.(238-240)acC>acT	p.T80T	ZSCAN21_uc011kje.1_Silent_p.T79T|ZSCAN21_uc003usn.1_Silent_p.T79T	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	Homo sapiens zinc finger and SCAN domain containing 21 (ZSCAN21), mRNA.	80	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)			AGATCCACACCAAGGAGCAGA	0.637000														10			18		0	0	0.00074312	0	0
TET3	200424	broad.mit.edu	37	2	74274192	74274192	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:74274192C>T	uc002skb.4	+	0	743	c.743C>T	c.(742-744)cCc>cTc	p.P248L	TET3_uc010fez.2_Missense_Mutation_p.P248L	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	248							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCTTCTTGCCCCCTTCCTGAG	0.592000														25			5		0	0	0.000274275	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616520	77616520	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:77616520T>C	uc003yau.2	+	1	584	c.197T>C	c.(196-198)gTt>gCt	p.V66A	ZFHX4_uc003yat.1_Missense_Mutation_p.V66A|ZFHX4_uc003yaw.1_Missense_Mutation_p.V66A	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	66						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)			GGTTTCAGCGTTGAGAATGCA	0.493000										HNSCC(33;0.089)				72			20		0	0	0.00152264	0	0
TRPV6	55503	broad.mit.edu	37	7	142572683	142572683	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142572683G>A	uc003wbx.2	-	9	1489	c.1260C>T	c.(1258-1260)atC>atT	p.I420I	TRPV6_uc003wbw.1_Silent_p.I206I|TRPV6_uc010lou.1_Silent_p.I291I	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	420					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GGCCCCCAAGGATGGTCTGTC	0.542000														78			12		0	0	0.000308642	0	0
MYO1D	4642	broad.mit.edu	37	17	31039005	31039005	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:31039005C>T	uc002hho.1	-	16	2133	c.2121_splice	c.e16+1	p.K707_splice	MYO1D_uc002hhp.1_Splice_Site_p.K707_splice	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	707	IQ 1.					myosin complex	ATP binding|actin binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			tataaaattaCCTTTTGTAGA	0.313000														54			7		0	0	0.000157383	0	0
CPNE9	151835	broad.mit.edu	37	3	9759841	9759841	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:9759841G>A	uc021wst.1	+	15	1231	c.1060G>A	c.(1060-1062)Ggc>Agc	p.G354S	CPNE9_uc003bsd.3_Missense_Mutation_p.G353S	NM_153635	NP_705899	Q8IYJ1	CPNE9_HUMAN	Homo sapiens copine family member IX (CPNE9), mRNA.	354	VWFA.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CCCAGCTTATGGCTTTGGGGC	0.582000														13			11		0	0	0.00136819	0	0
ADH1C	126	broad.mit.edu	37	4	100263983	100263983	+	RNA	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:100263983G>A	uc021xqi.1	-	5		c.882C>T				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GACTTCAAACGAAAAATCCAC	0.463000														84			26		0	0	0.00127121	0	0
DIS3	22894	broad.mit.edu	37	13	73349449	73349449	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:73349449A>G	uc001vix.4	-	5	1261	c.887T>C	c.(886-888)cTt>cCt	p.L296P	DIS3_uc001viy.4_Missense_Mutation_p.L266P|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	296					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|RNA binding|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		CTTGGGGAGAAGCTCCACAGC	0.413000										Multiple Myeloma(4;0.011)				42			12		0	0	0.00244969	0	0
DPPA2	151871	broad.mit.edu	37	3	109031453	109031453	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:109031453C>T	uc003dxo.3	-	2	367	c.120G>A	c.(118-120)atG>atA	p.M40I		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	40						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGCTTGGTTCCATTTGTTCCA	0.413000														97			18		0	0	0.00152264	0	0
ST18	9705	broad.mit.edu	37	8	53073993	53073993	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:53073993G>A	uc003xqz.2	-	8	1692	c.1536C>T	c.(1534-1536)ttC>ttT	p.F512F	ST18_uc011ldq.1_Silent_p.F159F|ST18_uc011ldr.1_Silent_p.F477F|ST18_uc011lds.1_Silent_p.F417F|ST18_uc003xra.2_Silent_p.F512F|ST18_uc003xrb.2_Silent_p.F512F	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	512						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GGCGTTTACCGAAAACTTGGG	0.438000														103			14		0	0	0.000308642	0	0
FAM111A	63901	broad.mit.edu	37	11	58919785	58919785	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:58919785C>T	uc010rkp.2	+	4	871	c.644C>T	c.(643-645)gCt>gTt	p.A215V	FAM111A_uc010rkq.2_Missense_Mutation_p.A215V|FAM111A_uc010rkr.2_Missense_Mutation_p.A215V|FAM111A_uc001nno.3_Missense_Mutation_p.A215V|FAM111A_uc001nnp.3_Missense_Mutation_p.A215V|FAM111A_uc001nnq.3_Missense_Mutation_p.A215V	NM_001142521	NP_942144	Q96PZ2	F111A_HUMAN	Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.	215					proteolysis		serine-type endopeptidase activity	p.A215V(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TGTGTTTATGCTTTCAAAGGA	0.388000														39			15		0	0	0.000308642	0	0
NLRP4	147945	broad.mit.edu	37	19	56369627	56369627	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:56369627C>T	uc002qmd.4	+	2	1290	c.868C>T	c.(868-870)Cag>Tag	p.Q290*	NLRP4_uc002qmf.3_Nonsense_Mutation_p.Q215*|NLRP4_uc010etf.3_Nonsense_Mutation_p.Q121*	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	290	NACHT.						ATP binding	p.Q290*(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCTCCGGGATCAGGTGACGAT	0.537000														32			5		0	0	0.00198382	0	0
RAPGEF2	9693	broad.mit.edu	37	4	160253705	160253705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:160253705C>T	uc003iqg.4	+	10	1818	c.1508C>T	c.(1507-1509)cCa>cTa	p.P503L		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	503					MAPKKK cascade|cAMP-mediated signaling|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|calcium ion binding|diacylglycerol binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TACTCCATTCCAGATCTTGCT	0.393000														32			9		0	0	0.000442599	0	0
PLCB4	5332	broad.mit.edu	37	20	9365044	9365044	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:9365044C>T	uc021wam.1	+	10	1065	c.1050C>T	c.(1048-1050)ctC>ctT	p.L350L	PLCB4_uc010gbw.1_Silent_p.L350L|PLCB4_uc010gbx.3_Silent_p.L350L|PLCB4_uc021wal.1_Silent_p.L350L|PLCB4_uc002wnh.3_Silent_p.L197L	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	350	PI-PLC X-box.				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						GACAGGTTCTCCTGGCTGGTT	0.428000														53			16		0	0	0.00121646	0	0
ZFHX4	79776	broad.mit.edu	37	8	77764369	77764369	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:77764369C>T	uc003yau.2	+	9	5599	c.5212C>T	c.(5212-5214)Ctc>Ttc	p.L1738F	ZFHX4_uc003yaw.1_Missense_Mutation_p.L1693F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1693	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F1737L(1)		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)			GCCTCAGTTTCTCTTTCCATT	0.512000										HNSCC(33;0.089)				26			32		0	0	0.000814825	0	0
AKAP17A	8227	broad.mit.edu	37	X	1714278	1714278	+	Splice_Site	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:1714278T>C	uc004cqa.3	+	3	959	c.763_splice	c.e3-1	p.V255_splice	AKAP17A_uc010ncx.1_Splice_Site_p.V255_splice|AKAP17A_uc004cqb.3_Splice_Site|ASMT_uc004cqd.3_Splice_Site	NM_005088	NP_005079	Q02040	AK17A_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 17A (AKAP17A), transcript variant 1, mRNA.	255	RRM.				B cell activation|RNA splicing|mRNA processing|regulation of transcription, DNA-dependent|signal transduction	nuclear speck|spliceosomal complex	RNA binding|nucleotide binding|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CTTTTAAAGGTTTCTTTTGAT	0.537000														106			45		0	0	0.000781405	0	0
SRPX2	27286	broad.mit.edu	37	X	99920601	99920601	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:99920601C>A	uc004egb.3	+	6	1208	c.728C>A	c.(727-729)gCc>gAc	p.A243D		NM_014467	NP_055282	O60687	SRPX2_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.	243	HYR.				angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CGTTACACTGCCTATGACCGA	0.483000														45			43		6.27289e-28	2.12532e-27	0.000781405	1	0
GRID2	2895	broad.mit.edu	37	4	94159621	94159621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:94159621C>T	uc011cdt.2	+	7	1483	c.1225C>T	c.(1225-1227)Ctt>Ttt	p.L409F	GRID2_uc011cdu.2_Missense_Mutation_p.L314F|GRID2_uc010ikz.1_Missense_Mutation_p.L90F	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	409					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TGGAGAAGAGCTTGGCAGAGG	0.418000														19			9		0	0	0.00136819	0	0
MRPS35	60488	broad.mit.edu	37	12	27908299	27908299	+	Silent	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:27908299T>G	uc001rih.3	+	7	959	c.888T>G	c.(886-888)gtT>gtG	p.V296V	MRPS35_uc001rii.3_3'UTR	NM_021821	NP_068593	P82673	RT35_HUMAN	Homo sapiens mitochondrial ribosomal protein S35 (MRPS35), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	296					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					AAAAGTCTGTTGTTAGTCTTA	0.328000														185			43		0	0	0.00285205	0	0
PRB2	653247	broad.mit.edu	37	12	11546548	11546548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:11546548G>A	uc010shk.1	-	2	499	c.464C>T	c.(463-465)cCt>cTt	p.P155L		NM_006248	NP_006239			Homo sapiens proline-rich protein BstNI subfamily 2 (PRB2), mRNA.											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			CTTTCCTGGAGGTGGGGGACC	0.602000														91			17		0	0	0.00047179	0	0
RHBDD3	25807	broad.mit.edu	37	22	29656401	29656401	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:29656401C>T	uc003aeq.1	-	5	1269	c.897G>A	c.(895-897)gaG>gaA	p.E299E		NM_012265	NP_036397	Q9Y3P4	RHBD3_HUMAN	Homo sapiens rhomboid domain containing 3 (RHBDD3), mRNA.	299						integral to membrane	serine-type endopeptidase activity			lung(1)|ovary(1)	2						CCTGGATGCCCTCCTGCAGCA	0.667000														7			10		0	0	0.000978159	0	0
CALN1	83698	broad.mit.edu	37	7	71275406	71275406	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:71275406C>T	uc003twb.4	-	5	964	c.573G>A	c.(571-573)acG>acA	p.T191T	CALN1_uc003twa.4_Silent_p.T149T|CALN1_uc003twc.4_Silent_p.T149T	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	149						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.T149T(1)|p.R190Q(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGTCCTTCATCGTTAGGTGGT	0.463000														116			13		0	0	0.00244969	0	0
FNDC4	64838	broad.mit.edu	37	2	27715583	27715584	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:27715583_27715584CC>TT	uc002rkx.3	-	5	1024_1025	c.618_619GG>AA	c.(616-621)aaggga>aaAAga	p.G207R		NM_022823	NP_073734	Q9H6D8	FNDC4_HUMAN	Homo sapiens fibronectin type III domain containing 4 (FNDC4), mRNA.	207						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					GGCCCCTTTCCCTTCTCCTTGG	0.550000														48			24		0	0	6.4e-05	0	0
SCN2B	6327	broad.mit.edu	37	11	118037620	118037620	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:118037620C>T	uc001psf.2	-	3	821	c.630G>A	c.(628-630)ccG>ccA	p.P210P		NM_004588	NP_004579	O60939	SCN2B_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, beta (SCN2B), mRNA.	210					synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		CGCCATCATCCGGGTTGCCTT	0.612000														42			6		0	0	0.000157383	0	0
NPVF	64111	broad.mit.edu	37	7	25266433	25266433	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:25266433C>T	uc003sxo.3	-	1	398	c.351G>A	c.(349-351)gaG>gaA	p.E117E		NM_022150	NP_071433	Q9HCQ7	RFRP_HUMAN	Homo sapiens neuropeptide VF precursor (NPVF), mRNA.	117					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						CGAGGCTCACCTCCATATTTC	0.493000														127			22		0	0	0.00188189	0	0
POU2AF1	5450	broad.mit.edu	37	11	111228429	111228429	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:111228429G>A	uc001plg.4	-	3	452	c.197C>T	c.(196-198)tCc>tTc	p.S66F		NM_006235	NP_006226	Q16633	OBF1_HUMAN	Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.	66					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GTCCAGGCAGGAAGGACCTGT	0.627000			T	BCL6	NHL									7			5		0	0	0.000602214	0	0
SH3TC2	79628	broad.mit.edu	37	5	148406852	148406852	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:148406852C>T	uc003lpu.3	-	10	2595	c.2443G>A	c.(2443-2445)Gct>Act	p.A815T	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Missense_Mutation_p.A459T|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_Missense_Mutation_p.A362T|SH3TC2_uc010jgx.3_Missense_Mutation_p.A808T|SH3TC2_uc003lpv.1_Missense_Mutation_p.A362T|SH3TC2_uc011dbz.1_Missense_Mutation_p.A700T	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	815							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATCCAAAGCCTTCTTGGCC	0.557000														48			12		0	0	0.00136819	0	0
TG	7038	broad.mit.edu	37	8	133978826	133978826	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:133978826C>T	uc003ytw.3	+	29	5611	c.5570C>T	c.(5569-5571)tCc>tTc	p.S1857F	TG_uc010mdw.3_Missense_Mutation_p.S616F|TG_uc011ljb.2_Missense_Mutation_p.S226F|TG_uc011ljc.2_Missense_Mutation_p.S11F|TG_uc010mdx.1_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1857					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAACTTTTCTCCCCTGTGGAC	0.438000														64			5		0	0	0.00116845	0	0
VWA3B	200403	broad.mit.edu	37	2	98852918	98852918	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:98852918G>A	uc002syo.3	+	17	2758	c.2494G>A	c.(2494-2496)Gga>Aga	p.G832R	VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.G351R|VWA3B_uc002sym.3_Missense_Mutation_p.G832R|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.G489R|VWA3B_uc002syp.1_Missense_Mutation_p.G224R|VWA3B_uc002syq.1_Missense_Mutation_p.G108R|VWA3B_uc002syr.1_Missense_Mutation_p.G149R|VWA3B_uc010fih.1_5'Flank	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	832										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GACGCGAGAAGGAAGCCAGGT	0.423000														31			27		0	0	0.000720815	0	0
IQGAP2	10788	broad.mit.edu	37	5	75936908	75936908	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:75936908G>A	uc003kek.3	+	16	2296	c.2074G>A	c.(2074-2076)Gag>Aag	p.E692K	IQGAP2_uc010izv.2_Missense_Mutation_p.E245K|IQGAP2_uc011csv.2_Intron|IQGAP2_uc003kel.3_Intron	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	692	IQ 1.				small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TGAACAAGAAGAGAATGTGGT	0.383000														18			4		0	0	0.000602214	0	0
ISLR2	57611	broad.mit.edu	37	15	74425652	74425652	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:74425652G>A	uc002axd.3	+	3	1326	c.557G>A	c.(556-558)gGc>gAc	p.G186D	ISLR2_uc002axe.3_Missense_Mutation_p.G186D|ISLR2_uc010bjg.3_Missense_Mutation_p.G186D|ISLR2_uc010bjf.3_Missense_Mutation_p.G186D|ISLR2_uc021sqe.1_Missense_Mutation_p.G186D	NM_001130136	NP_065902	Q6UXK2	ISLR2_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA.	186	LRRCT.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TTCCACTGCGGCTGCGGCCTT	0.662000														73			12		0	0	0.00244969	0	0
DPM1	8813	broad.mit.edu	37	20	49551729	49551729	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:49551729C>T	uc002xvw.1	-	8	723	c.723G>A	c.(721-723)ttG>ttA	p.L241L	DPM1_uc002xvx.1_Non-coding_Transcript	NM_003859	NP_003850	O60762	DPM1_HUMAN	Homo sapiens dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit (DPM1), mRNA.	241					C-terminal protein lipidation|GPI anchor biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						CATTTCCTCCCAACTTGGATT	0.303000														182			45		0	0	0.000781405	0	0
CYSLTR1	10800	broad.mit.edu	37	X	77528275	77528275	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:77528275C>T	uc022bzh.1	-	0	969	c.969G>A	c.(967-969)aaG>aaA	p.K323K	CYSLTR1_uc004edb.3_Silent_p.K323K|CYSLTR1_uc010nma.3_Silent_p.K323K|CYSLTR1_uc010nmb.3_Silent_p.K323K	NM_006639	NP_006630	Q9Y271	CLTR1_HUMAN	Homo sapiens cysteinyl leukotriene receptor 1 (CYSLTR1), mRNA.	323					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	AAGAGGCCTTCTTTCTGGGTA	0.368000														13			14		0	0	0.000308642	0	0
CUBN	8029	broad.mit.edu	37	10	17152951	17152951	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:17152951G>A	uc001ioo.3	-	8	1034	c.982C>T	c.(982-984)Cct>Tct	p.P328S		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	328	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)	GAAGACCCAGGTGTATTCACA	0.517000														38			17		0	0	0.00074312	0	0
TTBK2	146057	broad.mit.edu	37	15	43044692	43044692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:43044692G>A	uc001zqo.2	-	13	3191	c.2752C>T	c.(2752-2754)Cat>Tat	p.H918Y	TTBK2_uc010bcy.2_Missense_Mutation_p.H849Y	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	918					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GAAACACAATGAAATAGTTCT	0.448000														35			33		0	0	0.000692331	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55285018	55285018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:55285018G>A	uc010erz.1	+	2	342	c.304G>A	c.(304-306)Ggt>Agt	p.G102S	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Missense_Mutation_p.G102S	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	102	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CAGATGCTACGGTTCTGTTAC	0.522000														108			25		0	0	0.00106085	0	0
LRFN2	57497	broad.mit.edu	37	6	40400047	40400048	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:40400047_40400048CC>TT	uc003oph.1	-	1	1270_1271	c.805_806GG>AA	c.(805-807)ggg>AAg	p.G269K		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	269	LRRCT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTTGAGGCCCCCTGGGGAGCCA	0.584000														33			7		0	0	6.4e-05	0	0
C10orf120	399814	broad.mit.edu	37	10	124458929	124458929	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:124458929C>T	uc001lgn.3	-	2	209	c.177_splice	c.e2-1	p.R59_splice		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	59										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GCTCCATATCCTGCAAGAAGA	0.463000														20			6		0	0	0.00198382	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757090	56757090	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:56757090G>A	uc010rjp.2	+	0	702	c.702G>A	c.(700-702)agG>agA	p.R234R		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	234					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						GTGCAGGAAGGAAAAAATCCT	0.423000														44			16		0	0	0.000308642	0	0
DNAH11	8701	broad.mit.edu	37	7	21857904	21857904	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:21857904G>A	uc003svc.3	+	65	10690	c.10659G>A	c.(10657-10659)acG>acA	p.T3553T		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3553	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCGAGGAAACGATAGATCCAG	0.323000									Kartagener syndrome					71			10		0	0	0.00136819	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72190570	72190570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:72190570C>T	uc001xms.3	+	15	4839	c.4478C>T	c.(4477-4479)aCc>aTc	p.T1493I	SIPA1L1_uc001xmt.3_Missense_Mutation_p.T1472I|SIPA1L1_uc001xmu.3_Missense_Mutation_p.T1472I|SIPA1L1_uc001xmv.3_Missense_Mutation_p.T1493I|SIPA1L1_uc010ttm.2_Missense_Mutation_p.T947I	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1493					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCCGAAGGAACCATAAACTCC	0.478000														29			15		0	0	0.00244969	0	0
TECRL	253017	broad.mit.edu	37	4	65170939	65170939	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:65170939C>T	uc003hcv.3	-	6	784	c.675G>A	c.(673-675)tgG>tgA	p.W225*	TECRL_uc003hcw.3_Nonsense_Mutation_p.W225*	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	225					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.W225*(2)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						AAGTAAATCCCCAGTAAAAGG	0.313000														57			12		0	0	0.00136819	0	0
SNTB1	6641	broad.mit.edu	37	8	121644714	121644714	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:121644714C>T	uc010mdg.3	-	2	1192	c.966G>A	c.(964-966)gaG>gaA	p.E322E	SNTB1_uc003ype.3_Silent_p.E322E	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.	322	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			GATGCCTAATCTCTCGGCTCC	0.512000														39			5		0	0	0.00198382	0	0
FAM171A1	221061	broad.mit.edu	37	10	15325991	15325991	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:15325991C>T	uc001iob.3	-	1	218	c.211G>A	c.(211-213)Gat>Aat	p.D71N		NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN	Homo sapiens family with sequence similarity 171, member A1 (FAM171A1), mRNA.	71						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GCGACGCCATCAGTCCCCGAG	0.587000														19			7		0	0	0.000442599	0	0
WNK1	65125	broad.mit.edu	37	12	992579	992579	+	Silent	SNP	C	T	T	rs142181848	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:992579C>T	uc021qss.1	+	15	4931	c.4288C>T	c.(4288-4290)Cta>Tta	p.L1430L	WNK1_uc001qio.4_Silent_p.L1170L|WNK1_uc021qst.1_Silent_p.L1422L|WNK1_uc001qip.4_Silent_p.L923L|WNK1_uc001qir.4_Silent_p.L343L	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1170					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			TGACTTTATTCTAGCAATAGA	0.378000														60			16		0	0	0.000422831	0	0
OR2G6	391211	broad.mit.edu	37	1	248685082	248685082	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248685082C>T	uc001ien.1	+	0	135	c.135C>T	c.(133-135)ctC>ctT	p.L45L		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L45I(1)		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)			ACACTGCCCTCATACTAGTAT	0.478000														45			9		0	0	0.000274275	0	0
DCLRE1C	64421	broad.mit.edu	37	10	14968864	14968864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:14968864G>A	uc001inn.3	-	10	1035	c.950C>T	c.(949-951)tCt>tTt	p.S317F	DCLRE1C_uc010qbx.2_Missense_Mutation_p.S317F|DCLRE1C_uc001inl.3_Missense_Mutation_p.S197F|DCLRE1C_uc001inr.3_Missense_Mutation_p.S202F|DCLRE1C_uc009xji.3_Missense_Mutation_p.S202F|DCLRE1C_uc001inm.3_Missense_Mutation_p.S197F|DCLRE1C_uc001ino.3_Missense_Mutation_p.S202F|DCLRE1C_uc009xjh.3_Non-coding_Transcript|DCLRE1C_uc001inp.3_Missense_Mutation_p.S197F|DCLRE1C_uc001inq.3_Missense_Mutation_p.S197F|DCLRE1C_uc021pni.1_Missense_Mutation_p.S202F|DCLRE1C_uc009xjj.1_Intron	NM_001033855	NP_001029027	Q96SD1	DCR1C_HUMAN	Homo sapiens DNA cross-link repair 1C (DCLRE1C), transcript variant a, mRNA.	317					DNA recombination	nucleus	5'-3' exonuclease activity|single-stranded DNA specific endodeoxyribonuclease activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						GGAGTGAAAAGAAAAACAAGC	0.433000								Non-homologous end-joining						30			11		0	0	0.00244969	0	0
PDE4DIP	9659	broad.mit.edu	37	1	145015921	145015921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:145015921G>A	uc001elx.4	-	2	550	c.167C>T	c.(166-168)tCc>tTc	p.S56F	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elm.4_5'UTR|PDE4DIP_uc001eln.4_Missense_Mutation_p.S56F|PDE4DIP_uc001elo.3_Missense_Mutation_p.S127F|PDE4DIP_uc001emh.3_Missense_Mutation_p.S127F|BX647792_uc001emj.3_Intron	NM_001198832	NP_001185761	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 8, mRNA.	0					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCTCTCAAGGAATATGTCTG	0.448000			T	PDGFRB	MPD									399			18		0	0	0.000566183	0	0
PCNXL2	80003	broad.mit.edu	37	1	233270791	233270791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:233270791C>T	uc001hvl.2	-	20	4040	c.3805G>A	c.(3805-3807)Gat>Aat	p.D1269N	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.	1269						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)				ATGAAGAAATCCAGTAAGAAG	0.343000														138			23		0	0	0.00106085	0	0
AKAP3	10566	broad.mit.edu	37	12	4737076	4737076	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:4737076G>A	uc001qnb.4	-	3	1236	c.992C>T	c.(991-993)tCg>tTg	p.S331L		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	331					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GATGAGATCCGAGACCACCTC	0.483000														19			8		0	0	0.000274275	0	0
SPRR2F	6705	broad.mit.edu	37	1	153085054	153085054	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:153085054C>T	uc001fbi.3	-	1	215	c.156G>A	c.(154-156)caG>caA	p.Q52Q	SPRR2A_uc001fbf.3_Intron|SPRR2F_uc021ozt.1_Silent_p.Q52Q	NM_001014450	NP_001014450	Q96RM1	SPR2F_HUMAN	Homo sapiens small proline-rich protein 2F (SPRR2F), mRNA.	52					keratinization	cornified envelope|cytoplasm				large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGGACATTTCTGCTGGCACT	0.582000														139			20		0	0	0.00047179	0	0
ADAM19	8728	broad.mit.edu	37	5	156997925	156997925	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:156997925G>A	uc003lwz.3	-	1	237	c.158C>T	c.(157-159)tCa>tTa	p.S53L	ADAM19_uc003lww.2_5'UTR|ADAM19_uc011ddr.1_5'UTR	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	53					proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGGGCTTTCTGAAGTCTTCCA	0.463000														65			11		0	0	0.00244969	0	0
ZNF99	7652	broad.mit.edu	37	19	22940941	22940941	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:22940941C>T	uc021urt.1	-	3	1925	c.1770G>A	c.(1768-1770)gaG>gaA	p.E590E		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTAGGGTTTCTCCCCAGTAT	0.363000														24			7		0	0	0.00198382	0	0
RIOK2	55781	broad.mit.edu	37	5	96512891	96512891	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:96512891T>C	uc003kmz.3	-	3	537	c.427A>G	c.(427-429)Aaa>Gaa	p.K143E	RIOK2_uc003kna.3_Missense_Mutation_p.K143E	NM_018343	NP_060813	Q9BVS4	RIOK2_HUMAN	Homo sapiens RIO kinase 2 (yeast) (RIOK2), transcript variant 1, mRNA.	143							ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TGCCTATGTTTATGATAATCG	0.338000														110			26		0	0	0.00209593	0	0
D4S234E	27065	broad.mit.edu	37	4	4389470	4389470	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:4389470C>T	uc011bvz.2	+	4	1395	c.114C>T	c.(112-114)ttC>ttT	p.F38F	D4S234E_uc011bwa.1_Silent_p.F38F|D4S234E_uc003ghz.3_Silent_p.F38F|D4S234E_uc003gia.3_Silent_p.F38F	NM_014392	NP_055207	P42857	NSG1_HUMAN	Homo sapiens DNA segment on chromosome 4 (unique) 234 expressed sequence (D4S234E), transcript variant 1, mRNA.	38					dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		AGCTGCAGTTCCCGCCCCCGG	0.632000														17			5		0	0	0.000602214	0	0
MEN1	4221	broad.mit.edu	37	11	64573220	64573220	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:64573220C>T	uc001obj.3	-	7	1160	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	MAP4K2_uc001obh.3_5'Flank|MAP4K2_uc001obi.3_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.3_Missense_Mutation_p.E363K|MEN1_uc001obl.3_Missense_Mutation_p.E323K|MEN1_uc001obm.3_Missense_Mutation_p.E358K|MEN1_uc001obn.3_Missense_Mutation_p.E363K|MEN1_uc001obo.3_Missense_Mutation_p.E363K|MEN1_uc001obq.3_Missense_Mutation_p.E363K|MEN1_uc001obr.3_Missense_Mutation_p.E363K	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	363	Interaction with FANCD2.				DNA repair|MAPKKK cascade|histone lysine methylation|negative regulation of JNK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to UV|response to gamma radiation|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	R-SMAD binding|Y-form DNA binding|double-stranded DNA binding|four-way junction DNA binding|protein N-terminus binding|protein binding, bridging|transcription regulatory region DNA binding	p.K362fs*2(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						TAGATCTCCTCGTCTTCCCGG	0.612000			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated					54			19		0	0	0.00278032	0	0
FAT4	79633	broad.mit.edu	37	4	126411404	126411405	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:126411404_126411405GG>AA	uc003ifj.4	+	16	13427_13428	c.13427_13428GG>AA	c.(13426-13428)ggg>gAA	p.G4476E	FAT4_uc011cgp.2_Missense_Mutation_p.G2717E|FAT4_uc003ifi.1_Missense_Mutation_p.G1953E	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	4476					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGTCCTCAGGGGAAGGTGTGCA	0.614000														25			7		0	0	6.4e-05	0	0
FCGR3B	2215	broad.mit.edu	37	1	161594380	161594380	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:161594380G>A	uc009wul.3	-	4	995	c.735C>T	c.(733-735)gtC>gtT	p.V245V	FCGR3B_uc021pdo.1_Silent_p.V209V	NM_001244753	NP_001231682	O75015	FCG3B_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIb, receptor (CD16b) (FCGR3B), transcript variant 1, mRNA.	209					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)	AGCAGAAAGAGACTTGGTACC	0.433000														37			26		0	0	0.00058488	0	0
OR5K1	26339	broad.mit.edu	37	3	98188656	98188656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:98188656C>T	uc003dsm.3	+	0	236	c.236C>T	c.(235-237)cCc>cTc	p.P79L		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCTATTACCCCCAAAATGTTA	0.428000														45			9		0	0	0.00244969	0	0
CNGB3	54714	broad.mit.edu	37	8	87590964	87590964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:87590964C>T	uc003ydx.3	-	16	2104	c.2056G>A	c.(2056-2058)Gca>Aca	p.A686T	CNGB3_uc010maj.3_Missense_Mutation_p.A543T	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	686					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						GCAAGACTTGCTTTTCCTGTG	0.493000														120			14		0	0	0.000566183	0	0
PLAC1L	219990	broad.mit.edu	37	11	59811097	59811097	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:59811097C>T	uc001nol.3	+	1	405	c.220C>T	c.(220-222)Cgt>Tgt	p.R74C		NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	Homo sapiens placenta-specific 1-like (PLAC1L), mRNA.	74						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						ATATCTTGTTCGTGATTGTGG	0.343000														30			12		0	0	0.000978159	0	0
MRGPRX2	117194	broad.mit.edu	37	11	19077810	19077810	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	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														38			8		0	0	0.000157383	0	0
KIF1B	23095	broad.mit.edu	37	1	10356644	10356644	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:10356644C>T	uc001aqx.4	+	19	1984	c.1782C>T	c.(1780-1782)atC>atT	p.I594I	KIF1B_uc001aqv.4_Silent_p.I548I|KIF1B_uc001aqw.4_Silent_p.I548I|KIF1B_uc001aqy.3_Silent_p.I568I|KIF1B_uc001aqz.3_Silent_p.I594I|KIF1B_uc001ara.3_Silent_p.I554I|KIF1B_uc001arb.3_Silent_p.I580I	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	594	FHA.				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TCTTAGTTATCGTGACCTTAG	0.438000														19			8		0	0	0.000274275	0	0
BUB1B	701	broad.mit.edu	37	15	40468867	40468867	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:40468867C>T	uc001zkx.4	+	4	786	c.574C>T	c.(574-576)Cag>Tag	p.Q192*	BUB1B_uc010ucl.1_Nonsense_Mutation_p.Q55*	NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	192	BUB1 N-terminal.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		ACTACAGTCCCAGCACCGGTA	0.373000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome					29			10		0	0	0.000442599	0	0
ZMAT4	79698	broad.mit.edu	37	8	40554838	40554838	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:40554838G>A	uc003xnr.3	-	3	421	c.275C>T	c.(274-276)tCc>tTc	p.S92F	ZMAT4_uc003xns.3_Missense_Mutation_p.S92F	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA.	92						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			TTGATAATGGGAATCGGCCAC	0.502000														57			7		0	0	0.000157383	0	0
SRRT	51593	broad.mit.edu	37	7	100482420	100482420	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:100482420G>A	uc003uwy.2	+	7	1269	c.1002G>A	c.(1000-1002)aaG>aaA	p.K334K	SRRT_uc010lhl.1_Silent_p.K334K|SRRT_uc003uxa.2_Silent_p.K334K|SRRT_uc003uwz.2_Silent_p.K334K	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	334	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ATGGGGACAAGGAAGAGAAGA	0.512000														71			8		0	0	0.000274275	0	0
MYH8	4626	broad.mit.edu	37	17	10304634	10304634	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:10304634G>A	uc002gmm.2	-	23	3161	c.3066C>T	c.(3064-3066)atC>atT	p.I1022I	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1022					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTTTGGTCAGGATGTTGACTT	0.403000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					67			104		0	0	0.000781405	0	0
SSPO	23145	broad.mit.edu	37	7	149488688	149488688	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:149488688G>A	uc010lpk.3	+	33	5130	c.5130G>A	c.(5128-5130)tgG>tgA	p.W1710*		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1713	TSP type-1 1.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGGGCCCTGGGGCCAGGGCC	0.731000														0			5		0	0	0.00116845	0	0
GTPBP3	84705	broad.mit.edu	37	19	17450299	17450299	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:17450299G>A	uc002ngg.4	+	5	1056	c.961G>A	c.(961-963)Gag>Aag	p.E321K	GTPBP3_uc010xpo.2_Missense_Mutation_p.E311K|GTPBP3_uc010ear.2_Non-coding_Transcript|GTPBP3_uc010eas.3_Missense_Mutation_p.E289K|GTPBP3_uc002ngh.4_Missense_Mutation_p.E289K	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN	Homo sapiens GTP binding protein 3 (mitochondrial) (GTPBP3), nuclear gene encoding mitochondrial protein, transcript variant IV, mRNA.	289					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						TGACGTGCTGGAGACCCCAGT	0.692000														22			5		0	0	0.00198382	0	0
RNF144B	255488	broad.mit.edu	37	6	18463533	18463533	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:18463533C>T	uc003ncs.3	+	6	1010	c.693C>T	c.(691-693)ttC>ttT	p.F231F		NM_182757	NP_877434	Q7Z419	R144B_HUMAN	Homo sapiens ring finger protein 144B (RNF144B), mRNA.	231					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			ATGACATTTTCCTCAGACATT	0.393000														66			8		0	0	0.000157383	0	0
AFF3	3899	broad.mit.edu	37	2	100625353	100625353	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:100625353C>T	uc002taf.3	-	3	314	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	AFF3_uc002tag.3_Missense_Mutation_p.R32Q|AFF3_uc010fiq.1_Missense_Mutation_p.R32Q|AFF3_uc010yvr.1_Missense_Mutation_p.R186Q|AFF3_uc002tah.1_Missense_Mutation_p.R57Q|AFF3_uc010fir.1_Missense_Mutation_p.R109Q	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	32					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCTTCTTTCTCGTTCTTTCCT	0.393000														17			8		0	0	0.000274275	0	0
MTERFD1	51001	broad.mit.edu	37	8	97258150	97258150	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:97258150G>A	uc003yhs.1	-	5	913	c.835C>T	c.(835-837)Ctg>Ttg	p.L279L	MTERFD1_uc003yhr.1_Silent_p.L158L|MTERFD1_uc010mbd.1_Silent_p.L279L	NM_015942	NP_057026	Q96E29	MTER1_HUMAN	Homo sapiens MTERF domain containing 1 (MTERFD1), nuclear gene encoding mitochondrial protein, mRNA.	279					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					CGAACTACCAGATCTCTAGTC	0.358000														60			46		0	0	0.000781405	0	0
CALCR	799	broad.mit.edu	37	7	93065372	93065372	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:93065372G>A	uc003umv.2	-	13	1443	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Silent_p.I347I|CALCR_uc003umw.2_Silent_p.I347I	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	363					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GGGGCACAAGGATCATGGTGG	0.493000														38			5		0	0	0.000602214	0	0
HBB	3043	broad.mit.edu	37	11	5247954	5247954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5247954C>T	uc001mae.1	-	1	218	c.168G>A	c.(166-168)atG>atA	p.M56I	CoTC_ribozyme_uc021qcu.1_5'Flank	NM_000518	NP_000509	P68871	HBB_HUMAN	Homo sapiens hemoglobin, beta (HBB), mRNA.	56			M -> K (in Matera; unstable).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	TAGGGTTGCCCATAACAGCAT	0.532000									Sickle Cell Trait					27			8		0	0	0.000673444	0	0
HTR3E	285242	broad.mit.edu	37	3	183818224	183818224	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:183818224G>A	uc010hxr.3	+	0	258	c.64G>A	c.(64-66)Gag>Aag	p.E22K	HTR3E_uc010hxq.3_Intron|HTR3E_uc003fml.4_Intron|HTR3E_uc003fmm.3_Missense_Mutation_p.E22K|HTR3E_uc003fmn.3_Missense_Mutation_p.E22K	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	0						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CTCATATAGGGAGCACAGGGT	0.527000														107			20		0	0	0.00278032	0	0
C15orf39	56905	broad.mit.edu	37	15	75500482	75500482	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:75500482C>T	uc002azp.4	+	1	2413	c.2093C>T	c.(2092-2094)cCc>cTc	p.P698L	C15orf39_uc002azq.4_Missense_Mutation_p.P698L|C15orf39_uc021sqm.1_Missense_Mutation_p.P457L|C15orf39_uc002azr.4_Missense_Mutation_p.P96L	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	698										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GCTCAACAGCCCTTGTCTGTG	0.677000														27			5		0	0	0.000157383	0	0
OR2W3	343171	broad.mit.edu	37	1	248059641	248059641	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248059641C>T	uc010pzb.2	+	0	753	c.753C>T	c.(751-753)ttC>ttT	p.F251F	OR2W3_uc001idp.1_Silent_p.F251F	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCTCCCTTTTCTATGGAAACA	0.527000														51			20		0	0	0.000586117	0	0
GRM6	2916	broad.mit.edu	37	5	178409996	178409996	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:178409996G>A	uc003mjr.3	-	8	2530	c.2351C>T	c.(2350-2352)cCc>cTc	p.P784L	GRM6_uc003mjq.3_Missense_Mutation_p.P187L	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	784					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|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)	all cancers(165;0.245)		GAAGCCGATGGGCTTGGCCTC	0.592000														42			8		0	0	0.000673444	0	0
FLT1	2321	broad.mit.edu	37	13	28963985	28963985	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:28963985C>T	uc001usb.3	-	12	2202	c.1917G>A	c.(1915-1917)agG>agA	p.R639R	FLT1_uc010aar.1_Silent_p.R639R|FLT1_uc001usc.3_Silent_p.R639R|FLT1_uc010aas.1_Non-coding_Transcript|FLT1_uc010aat.1_Silent_p.R122R	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	639	Ig-like C2-type 6.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TGTATACATTCCTGGCTCTGC	0.428000														79			29		0	0	0.00178596	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140780114	140780114	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140780114C>T	uc011daw.2	+	0	2420	c.2420C>T	c.(2419-2421)tCt>tTt	p.S807F	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_5'Flank|PCDHGC5_uc003lkh.2_5'Flank	NM_032099	NP_115270	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 2, mRNA.	171					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)			TATGTCTATTCTTTTTCATTA	0.398000														49			14		0	0	0.00244969	0	0
MMP16	4325	broad.mit.edu	37	8	89054002	89054002	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:89054002C>G	uc003yeb.4	-	9	1793	c.1511G>C	c.(1510-1512)gGa>gCa	p.G504A		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	504	Hemopexin-like 4.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ATACTCCTTTCCTTTGTAGAA	0.393000														16			9		0	0	0.000673444	0	0
NDST4	64579	broad.mit.edu	37	4	115891740	115891740	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:115891740C>T	uc003ibu.3	-	4	1746	c.1067_splice	c.e4-1	p.G356_splice	NDST4_uc010imw.3_Splice_Site	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	356	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		CTCTTCAGTCCCTTTAAAACA	0.368000														11			4		0	0	0.00024832	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067222	18067222	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:18067222C>T	uc003stz.3	-	0	265	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	62					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TCGTTGATTTCGCCACAACCA	0.473000														287			38		0	0	0.00170553	0	0
TRIM68	55128	broad.mit.edu	37	11	4626489	4626489	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:4626489G>A	uc001lzf.2	-	1	536	c.246C>T	c.(244-246)gtC>gtT	p.V82V	TRIM68_uc010qyj.2_Intron|TRIM68_uc009yek.2_Silent_p.V82V	NM_018073	NP_060543	Q6AZZ1	TRI68_HUMAN	Homo sapiens tripartite motif containing 68 (TRIM68), mRNA.	82					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTAGCAGACGGACTTTTTCTA	0.527000														84			18		0	0	0.000958276	0	0
NDUFS6	4726	broad.mit.edu	37	5	1815981	1815981	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:1815981C>T	uc003jcy.3	+	3	362	c.326C>T	c.(325-327)aCc>aTc	p.T109I		NM_004553	NP_004544	O75380	NDUS6_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) (NDUFS6), nuclear gene encoding mitochondrial protein, mRNA.	109					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|electron carrier activity	p.T109A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	7					NADH(DB00157)	GAAACAAAAACCGGCACATGC	0.448000														60			16		0	0	0.000422831	0	0
OAS2	4939	broad.mit.edu	37	12	113425085	113425085	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:113425085C>T	uc001tuj.3	+	1	560	c.420C>T	c.(418-420)ttC>ttT	p.F140F	OAS2_uc001tuh.3_Silent_p.F140F|OAS2_uc001tui.1_Silent_p.F140F	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	140	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|RNA binding|nucleotidyltransferase activity			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GAATCTCTTTCGAGGTGCTGG	0.493000														35			10		0	0	0.00185496	0	0
UBE2D3	7323	broad.mit.edu	37	4	103723746	103723747	+	Missense_Mutation	DNP	GG	CA	CA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:103723746_103723747GG>CA	uc003hwk.3	-	4	630_631	c.169_170CC>TG	c.(169-171)cct>TGt	p.P57C	UBE2D3_uc003hwi.3_Missense_Mutation_p.P57C|UBE2D3_uc003hwl.3_Missense_Mutation_p.P57C|UBE2D3_uc011cet.2_Missense_Mutation_p.P57C|UBE2D3_uc011ceu.2_Missense_Mutation_p.P57C|UBE2D3_uc003hwo.3_Missense_Mutation_p.P57C|UBE2D3_uc003hwp.3_Missense_Mutation_p.P57C|UBE2D3_uc003hwq.3_Missense_Mutation_p.P59C|UBE2D3_uc003hwr.3_Missense_Mutation_p.P57C	NM_181887	NP_871620	P61077	UB2D3_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2D 3 (UBE2D3), transcript variant 3, mRNA.	57					BMP signaling pathway|DNA repair|apoptosis|negative regulation of type I interferon production|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein monoubiquitination|transforming growth factor beta receptor signaling pathway	endosome membrane|plasma membrane	ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.13e-08)		GTAGTCTGTAGGAAAATGAATT	0.317000														57			12		0	0	6.4e-05	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963427	73963427	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:73963427C>T	uc004eby.3	-	2	1582	c.965G>A	c.(964-966)cGa>cAa	p.R322Q		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	322					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.R322*(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						AGTCTTGTCTCGAACATTGTC	0.443000														30			11		0	0	0.00185496	0	0
SH2D3A	10045	broad.mit.edu	37	19	6754925	6754926	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:6754925_6754926GG>AA	uc002mft.3	-	4	1091_1092	c.897_898CC>TT	c.(895-900)ccccaa>ccTTaa	p.Q300*	SH2D3A_uc010xjg.2_Nonsense_Mutation_p.Q178*	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	300					JNK cascade|small GTPase mediated signal transduction	intracellular	SH3/SH2 adaptor activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						TGCAGGACTTGGGGTTCCAGGG	0.599000														57			16		0	0	6.4e-05	0	0
AMPH	273	broad.mit.edu	37	7	38433715	38433715	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:38433715G>A	uc003tgu.3	-	17	1714	c.1498C>T	c.(1498-1500)Cct>Tct	p.P500S	AMPH_uc003tgv.3_Missense_Mutation_p.P458S|AMPH_uc003tgt.3_Missense_Mutation_p.P385S|AMPH_uc003tgw.1_Missense_Mutation_p.P523S|AMPH_uc010kxl.1_Non-coding_Transcript	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	500					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TCCCCGGCAGGGACAGTGGCC	0.572000														80			15		0	0	0.000422831	0	0
LAMA3	3909	broad.mit.edu	37	18	21357535	21357535	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:21357535C>T	uc002kuq.3	+	10	1506	c.1420C>T	c.(1420-1422)Cct>Tct	p.P474S	LAMA3_uc010dlv.2_Missense_Mutation_p.P474S|LAMA3_uc002kur.3_Missense_Mutation_p.P474S	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	474	Domain V.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCCATTTTTCCTGTTTCTAC	0.333000														36			69		0	0	0.000781405	0	0
CEACAM1	634	broad.mit.edu	37	19	43023216	43023216	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:43023216C>T	uc002otv.3	-	4	1265	c.1130G>A	c.(1129-1131)gGc>gAc	p.G377D	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|CEACAM1_uc010eii.3_Intron|CEACAM1_uc010eij.3_Missense_Mutation_p.G377D|CEACAM1_uc002otw.3_Missense_Mutation_p.G377D|CEACAM1_uc002otx.3_Intron|CEACAM1_uc002oty.3_Intron|CEACAM1_uc002otz.3_Intron|CEACAM1_uc010eik.3_Intron|CEACAM1_uc002oua.3_Missense_Mutation_p.G377D|CEACAM1_uc002oub.3_Silent_p.G332G	NM_001712	NP_001703	P13688	CEAM1_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) (CEACAM1), transcript variant 1, mRNA.	377	Ig-like C2-type 3.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GGTGGTGTTGCCCTGGGACAG	0.527000														44			11		0	0	0.000978159	0	0
C1orf173	127254	broad.mit.edu	37	1	75037852	75037852	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:75037852C>T	uc001dgg.3	-	13	3761	c.3542G>A	c.(3541-3543)aGa>aAa	p.R1181K		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1181	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCACTCAGTCTTTCCCCTCC	0.507000														46			11		0	0	0.000673444	0	0
ZMYM6	9204	broad.mit.edu	37	1	35477565	35477565	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:35477565G>A	uc001byh.3	-	7	1216	c.988C>T	c.(988-990)Cct>Tct	p.P330S	ZMYM6_uc001byf.1_Missense_Mutation_p.P330S|ZMYM6_uc010oht.2_Missense_Mutation_p.P233S|ZMYM6_uc009vup.3_Missense_Mutation_p.P136S|ZMYM6_uc009vuq.1_Missense_Mutation_p.P330S|ZMYM6_uc009vur.1_Missense_Mutation_p.P136S	NM_007167	NP_009098	O95789	ZMYM6_HUMAN	Homo sapiens zinc finger, MYM-type 6 (ZMYM6), mRNA.	330					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TGATACTGAGGGATTGCTGAG	0.378000														43			15		0	0	0.000958276	0	0
PPP4R4	57718	broad.mit.edu	37	14	94697620	94697620	+	Missense_Mutation	SNP	G	A	A	rs149895295		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:94697620G>A	uc001ycs.1	+	4	638	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	162						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.E162K(2)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GTCTGTTATAGAAGTATTGCC	0.358000														56			11		0	0	0.00244969	0	0
TTN	7273	broad.mit.edu	37	2	179647698	179647698	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179647698C>T	uc021vsy.1	-	17	3160	c.2935G>A	c.(2935-2937)Gaa>Aaa	p.E979K	TTN_uc021vsz.1_Missense_Mutation_p.E933K|TTN_uc021vta.1_Missense_Mutation_p.E933K|TTN_uc021vtb.1_Missense_Mutation_p.E933K|TTN_uc002unb.2_Missense_Mutation_p.E979K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	979	Ig-like 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S979N(1)		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)			TGGTAGTCTTCCCTGTACCAT	0.478000														33			13		0	0	0.000308642	0	0
APOL3	80833	broad.mit.edu	37	22	36538042	36538042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:36538042C>T	uc003aot.3	-	2	453	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	APOL3_uc003aoq.3_Missense_Mutation_p.E68K|APOL3_uc003aor.3_Missense_Mutation_p.E68K|APOL3_uc003aos.3_Missense_Mutation_p.E68K|APOL3_uc003aou.3_5'UTR|APOL3_uc003aov.3_5'UTR|APOL3_uc021wol.1_5'Flank	NM_145640	NP_663617	O95236	APOL3_HUMAN	Homo sapiens apolipoprotein L, 3 (APOL3), transcript variant alpha/d, mRNA.	139					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TGCACATATTCGTCCTCAATA	0.438000														38			14		0	0	0.00185496	0	0
CSMD1	64478	broad.mit.edu	37	8	3165250	3165250	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:3165250C>A	uc022aqr.1	-	24	4307	c.3917G>T	c.(3916-3918)tGg>tTg	p.W1306L	CSMD1_uc011kwj.2_Missense_Mutation_p.W699L|CSMD1_uc003wqe.3_Missense_Mutation_p.W463L	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1307	CUB 8.					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)		CTCTATAATCCAGGTGCAGTG	0.453000														123			20		4.26978e-12	1.44269e-11	0.00047179	1	0
RFC5	5985	broad.mit.edu	37	12	118462717	118462717	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:118462717C>T	uc001twq.3	+	5	610	c.483C>T	c.(481-483)atC>atT	p.I161I	RFC5_uc010syx.2_Silent_p.I140I|RFC5_uc010syz.2_Silent_p.I76I|RFC5_uc009zwr.3_Silent_p.I161I	NM_007370	NP_001123584	P40937	RFC5_HUMAN	Homo sapiens replication factor C (activator 1) 5, 36.5kDa (RFC5), transcript variant 1, mRNA.	161					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|cell cycle checkpoint|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGTCAAAGATCATCCCTGCCT	0.463000														40			9		0	0	0.000274275	0	0
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48746086	48746086	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:48746086G>A	uc002xvf.3	-	3	636	c.475C>T	c.(475-477)Cct>Tct	p.P159S	TMEM189-UBE2V1_uc010zyq.1_Non-coding_Transcript|TMEM189-UBE2V1_uc002xvg.2_Missense_Mutation_p.P159S|TMEM189-UBE2V1_uc010gif.2_Missense_Mutation_p.P156S|TMEM189-UBE2V1_uc010zyp.1_Missense_Mutation_p.P84S	NM_199203	NP_954673	A5PLL7	TM189_HUMAN	Homo sapiens TMEM189-UBE2V1 readthrough (TMEM189-UBE2V1), mRNA.	159						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			GTCTCACCAGGGCTGTGGGTG	0.617000														16			4		0	0	0.00116845	0	0
MED12L	116931	broad.mit.edu	37	3	151094807	151094807	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:151094807A>G	uc003eyp.3	+	27	4181	c.4052A>G	c.(4051-4053)aAc>aGc	p.N1351S	MED12L_uc011bnz.2_Missense_Mutation_p.N1211S|P2RY12_uc011boa.2_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.N514S	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	1351					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GAAATGAACAACTTACTGGAC	0.398000														25			6		0	0	0.00198382	0	0
SEPT7	989	broad.mit.edu	37	7	35923579	35923579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:35923579C>T	uc010kxc.3	+	7	1020	c.796C>T	c.(796-798)Cct>Tct	p.P266S	SEPT7_uc011kat.2_Missense_Mutation_p.P266S|SEPT7_uc011kau.2_Missense_Mutation_p.P232S|SEPT7_uc011kav.2_Missense_Mutation_p.P215S	NM_001788	NP_001779	Q16181	SEPT7_HUMAN	Homo sapiens septin 7 (SEPT7), transcript variant 1, mRNA.	268					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						AAGGCAGTATCCTTGGGGTGT	0.338000														55			12		0	0	0.00244969	0	0
ALDH5A1	7915	broad.mit.edu	37	6	24503518	24503518	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:24503518G>A	uc003nef.3	+	2	494	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K	ALDH5A1_uc003neg.3_Missense_Mutation_p.E156K	NM_170740	NP_733936	P51649	SSDH_HUMAN	Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	156					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	GGCACATGGAGAAATTCTCTA	0.463000														41			8		0	0	0.000442599	0	0
PRR5-ARHGAP8	553158	broad.mit.edu	37	22	45258226	45258226	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:45258226C>T	uc003bfd.3	+	16	1960	c.1683C>T	c.(1681-1683)atC>atT	p.I561I	PRR5-ARHGAP8_uc011aqi.2_Silent_p.I473I|PRR5-ARHGAP8_uc011aqj.2_Silent_p.I404I|PRR5-ARHGAP8_uc010gzv.3_3'UTR|PRR5-ARHGAP8_uc003bfj.3_Silent_p.I382I|PRR5-ARHGAP8_uc003bfk.3_Silent_p.I351I|PRR5-ARHGAP8_uc003bfl.3_Non-coding_Transcript	NM_181335	NP_851852			Homo sapiens Rho GTPase activating protein 8 (ARHGAP8), transcript variant 2, mRNA.											breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						TGAATTTGATCTGGCCATCCC	0.532000														36			7		0	0	0.00198382	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140778464	140778464	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140778464C>T	uc003lkf.2	+	0	770	c.770C>T	c.(769-771)cCa>cTa	p.P257L	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_uc011daw.2_Missense_Mutation_p.P257L	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	257	Cadherin 3.				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)			AACGTGCCACCAGGCACCACT	0.522000														55			18		0	0	0.00074312	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090427	238090427	+	RNA	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:238090427G>A	uc010pyc.2	+	11		c.1933G>A								Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA.																		GGCCCTGGAGGAGCACCCAGT	0.562000														7			5		0	0	0.000602214	0	0
TPH2	121278	broad.mit.edu	37	12	72335409	72335409	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:72335409G>A	uc009zrw.1	+	1	292	c.151G>A	c.(151-153)Gga>Aga	p.G51R	TPH2_uc001swy.2_5'UTR	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	51					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	AGGCAACAAGGGAAGCAGCAA	0.413000														19			7		0	0	0.00198382	0	0
OR13C4	138804	broad.mit.edu	37	9	107288800	107288800	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:107288800C>T	uc011lvn.2	-	0	691	c.691G>A	c.(691-693)Gcc>Acc	p.A231T		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S230S(2)|p.S230*(1)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						CTTCCTGTGGCCGAGTTCGTT	0.418000														60			13		0	0	0.00244969	0	0
MAEL	84944	broad.mit.edu	37	1	166958983	166958983	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:166958983G>A	uc001gdy.1	+	1	213	c.142G>A	c.(142-144)Gag>Aag	p.E48K	MAEL_uc021peh.1_5'UTR|MAEL_uc001gdz.1_Intron|MAEL_uc009wvf.1_5'Flank	NM_032858	NP_116247	Q96JY0	MAEL_HUMAN	Homo sapiens maelstrom homolog (Drosophila) (MAEL), mRNA.	48					DNA methylation involved in gamete generation|cell differentiation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GCTTCTGAGGGAGGAAGAAAA	0.547000														61			10		0	0	0.000442599	0	0
GJA10	84694	broad.mit.edu	37	6	90605509	90605509	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:90605509G>A	uc011eaa.2	+	0	1322	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	441					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity	p.R441*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TCTGAAAAGCGACATCTGCAC	0.532000														36			14		0	0	0.000422831	0	0
CPD	1362	broad.mit.edu	37	17	28772953	28772953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:28772953C>T	uc002hfb.2	+	11	2845	c.2788C>T	c.(2788-2790)Ctt>Ttt	p.L930F	CPD_uc010wbo.2_Missense_Mutation_p.L683F|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	930	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GGCTCTGGCTCTTTATCGATA	0.383000														24			55		0	0	0.000781405	0	0
RPP40	10799	broad.mit.edu	37	6	4998971	4998971	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:4998971G>A	uc003mwl.3	-	4	573	c.538C>T	c.(538-540)Ctt>Ttt	p.L180F	RPP40_uc003mwm.3_Missense_Mutation_p.L157F	NM_006638	NP_006629	O75818	RPP40_HUMAN	Homo sapiens ribonuclease P/MRP 40kDa subunit (RPP40), mRNA.	180					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CAAGCCAAAAGAAAATCAAAT	0.289000														56			7		0	0	0.000157383	0	0
KRTAP1-3	81850	broad.mit.edu	37	17	39190932	39190932	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:39190932G>A	uc002hvv.3	-	0	176	c.142C>T	c.(142-144)Cct>Tct	p.P48S		NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	Homo sapiens keratin associated protein 1-3 (KRTAP1-3), mRNA.	58			Missing (in allele KAP1.1).			extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GAGAAGCTAGGAAATCCGCAG	0.622000														64			13		0	0	0.00244969	0	0
OR6C65	403282	broad.mit.edu	37	12	55795008	55795008	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:55795008G>A	uc010spl.2	+	0	696	c.696G>A	c.(694-696)agG>agA	p.R232R		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						CCCAGCAAAGGAAAAAGGCTT	0.398000														77			27		0	0	0.000878237	0	0
DNAH11	8701	broad.mit.edu	37	7	21640507	21640507	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:21640507A>G	uc003svc.3	+	15	3245	c.3214A>G	c.(3214-3216)Att>Gtt	p.I1072V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1072	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E1071*(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAATGAAGAAATTCCCGAACA	0.408000									Kartagener syndrome					76			16		0	0	0.000566183	0	0
STARD6	147323	broad.mit.edu	37	18	51863622	51863622	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:51863622C>T	uc010xdt.2	-	3	141	c.141_splice	c.e3-1	p.L47_splice		NM_139171	NP_631910	P59095	STAR6_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 6 (STARD6), mRNA.	47	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		AACACGATATCTACAGTTAAC	0.318000														61			5		0	0	0.000602214	0	0
ABCB5	340273	broad.mit.edu	37	7	20739693	20739693	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:20739693G>T	uc010kuh.3	+	18	2509	c.2272G>T	c.(2272-2274)Ggc>Tgc	p.G758C	ABCB5_uc003suw.4_Missense_Mutation_p.G313C	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	313	ABC transporter 2.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATTATTTTACGGCAGAGCAGG	0.303000														122			18		1.36565e-18	4.62349e-18	0.00278032	1	0
PRKCD	5580	broad.mit.edu	37	3	53223221	53223221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:53223221C>T	uc003dgl.3	+	16	2055	c.1702C>T	c.(1702-1704)Ccc>Tcc	p.P568S	PRKCD_uc003dgm.3_Missense_Mutation_p.P568S	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	568	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of MAP kinase activity|negative regulation of insulin receptor signaling pathway|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	p.P568A(2)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GCCACATTATCCCCGCTGGAT	0.617000														26			5		0	0	0.00116845	0	0
SV2B	9899	broad.mit.edu	37	15	91811791	91811791	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:91811791G>A	uc002bqv.3	+	9	2220	c.1329G>A	c.(1327-1329)acG>acA	p.T443T	SV2B_uc002bqt.3_Silent_p.T443T|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Silent_p.T292T	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	443					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TCAACTTCACGATGGAAAATC	0.438000														245			70		0	0	0.000781405	0	0
HEATR7B2	133558	broad.mit.edu	37	5	40999860	40999860	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:40999860G>A	uc003jmj.4	-	39	4994	c.4504C>T	c.(4504-4506)Ctg>Ttg	p.L1502L	HEATR7B2_uc003jmi.4_Silent_p.L1057L	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1502							binding	p.L1502M(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AGGATCCACAGAATTTCCTGG	0.473000														30			18		0	0	0.00278032	0	0
WDR33	55339	broad.mit.edu	37	2	128466428	128466428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:128466428C>T	uc002tpg.2	-	20	3803	c.3604G>A	c.(3604-3606)Gat>Aat	p.D1202N		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	1202					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)		GGGGGATGATCAGGGCGGGGA	0.542000														31			5		0	0	0.000602214	0	0
TOM1	10043	broad.mit.edu	37	22	35717964	35717965	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:35717964_35717965CC>TA	uc003ann.3	+	2	275_276	c.150_151CC>TA	c.(148-153)gccctc>gcTAtc	p.L51I	TOM1_uc011ami.2_Missense_Mutation_p.L18I|TOM1_uc003anp.3_Missense_Mutation_p.L51I|TOM1_uc011aml.2_Missense_Mutation_p.L51I|TOM1_uc011amk.2_Intron|TOM1_uc003ano.3_Non-coding_Transcript|TOM1_uc011amj.2_5'UTR	NM_005488	NP_005479	O60784	TOM1_HUMAN	Homo sapiens target of myb1 (chicken) (TOM1), transcript variant 1, mRNA.	51	VHS.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CCAAAGATGCCCTCCGAGCAGT	0.510000														30			17		0	0	6.4e-05	0	0
SPHKAP	80309	broad.mit.edu	37	2	228882743	228882743	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:228882743C>T	uc002vpq.2	-	6	2874	c.2827G>A	c.(2827-2829)Gaa>Aaa	p.E943K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E943K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E943K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	943	PKA-RII subunit binding domain (By similarity).					cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCTGCAATTTCAGTTGCCATG	0.478000														42			23		0	0	0.00278032	0	0
SEMA4D	10507	broad.mit.edu	37	9	92006203	92006203	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:92006203G>A	uc004aqo.1	-	10	1322	c.750C>T	c.(748-750)atC>atT	p.I250I	SEMA4D_uc011ltm.1_Silent_p.I250I|SEMA4D_uc011ltn.1_Non-coding_Transcript|SEMA4D_uc011lto.1_Non-coding_Transcript|SEMA4D_uc004aqp.1_Silent_p.I250I	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	250	Sema.				anti-apoptosis|axon guidance|cell adhesion|immune response	integral to membrane|plasma membrane	receptor activity|receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(8)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34						CTATCCGTGGGATCAGCACCC	0.572000														31			7		0	0	0.000442599	0	0
FBN3	84467	broad.mit.edu	37	19	8175830	8175831	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:8175830_8175831CC>TT	uc002mjf.3	-	32	4248_4249	c.4231_4232GG>AA	c.(4231-4233)ggg>AAg	p.G1411K		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1411	EGF-like 22; calcium-binding.					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						ACAGAGGTTCCCTTGCGCACAC	0.634000														37			12		0	0	6.4e-05	0	0
H6PD	9563	broad.mit.edu	37	1	9305248	9305248	+	Silent	SNP	C	T	T	rs138775586	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:9305248C>T	uc001apt.3	+	1	528	c.255C>T	c.(253-255)tcC>tcT	p.S85S		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	85	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	AATCCCTCTCCTGCCCCAAGG	0.592000														15			6		0	0	0.000157383	0	0
SYN3	8224	broad.mit.edu	37	22	32937673	32937673	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:32937673G>A	uc003amx.3	-	6	963	c.801C>T	c.(799-801)ttC>ttT	p.F267F	SYN3_uc003amy.3_Silent_p.F267F|SYN3_uc003amz.3_Silent_p.F266F	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	267	C; actin-binding and synaptic-vesicle binding.				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						TGATGTCCTGGAAGTCAAGCT	0.557000														29			6		0	0	0.00116845	0	0
SYNE1	23345	broad.mit.edu	37	6	152737772	152737772	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:152737772G>A	uc021zhb.1	-	38	6023	c.5800C>T	c.(5800-5802)Caa>Taa	p.Q1934*	SYNE1_uc003qot.4_Nonsense_Mutation_p.Q1941*|SYNE1_uc003qou.4_Nonsense_Mutation_p.Q1934*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.Q1917*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1934					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGATGGTATTGGGCTTTGGAA	0.483000										HNSCC(10;0.0054)				30			21		0	0	0.00229938	0	0
TRANK1	9881	broad.mit.edu	37	3	36887847	36887847	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:36887847G>A	uc003cgj.3	-	15	5199	c.4951C>T	c.(4951-4953)Cgg>Tgg	p.R1651W		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	1651					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						AGGTTGACCCGAGCCCGTGTG	0.443000														18			6		0	0	0.00198382	0	0
HRNR	388697	broad.mit.edu	37	1	152187501	152187501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152187501C>T	uc001ezt.1	-	2	6680	c.6604G>A	c.(6604-6606)Ggg>Agg	p.G2202R		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2202					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)			GAGCCAGACCCATGTTGGCCG	0.622000														173			8		0	0	0.00136819	0	0
OBP2B	29989	broad.mit.edu	37	9	136081313	136081313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:136081313C>T	uc004ccz.3	-	5	547	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	OBP2B_uc010nad.3_Non-coding_Transcript|OBP2B_uc011mcy.2_Missense_Mutation_p.E101K	NM_014581	NP_055396	Q9NPH6	OBP2B_HUMAN	Homo sapiens odorant binding protein 2B (OBP2B), mRNA.	169					chemosensory behavior|sensory perception of smell	extracellular region	odorant binding|transporter activity	p.P168P(1)		central_nervous_system(2)|large_intestine(1)|lung(3)|skin(1)	7				OV - Ovarian serous cystadenocarcinoma(145;3.41e-06)|Epithelial(140;1.88e-05)		CCCTAGTGTTCGGGAACGCAG	0.617000														37			6		0	0	0.000274275	0	0
MARCH7	64844	broad.mit.edu	37	2	160604951	160604951	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:160604951C>A	uc002uax.3	+	4	1272	c.1150C>A	c.(1150-1152)Cca>Aca	p.P384T	MARCH7_uc010foq.3_Missense_Mutation_p.P384T|MARCH7_uc010zcn.2_Missense_Mutation_p.P328T|MARCH7_uc010for.3_Missense_Mutation_p.P346T|MARCH7_uc002uay.3_Non-coding_Transcript	NM_022826	NP_073737	Q9H992	MARH7_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 7 (MARCH7), mRNA.	384	Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						AAATACAGGACCATGGTTATC	0.413000														94			12		0.000151284	0.000507638	0.00185496	1	0
CORO1B	57175	broad.mit.edu	37	11	67205905	67205906	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:67205905_67205906CC>AT	uc001oll.2	-	11	1544_1545	c.1411_1412GG>AT	c.(1411-1413)ggc>ATc	p.G471I	PTPRCAP_uc001oli.1_5'Flank|CORO1B_uc001olk.1_Missense_Mutation_p.G471I|CORO1B_uc009yrt.1_Non-coding_Transcript	NM_001018070	NP_065174	Q9BR76	COR1B_HUMAN	Homo sapiens coronin, actin binding protein, 1B (CORO1B), transcript variant 2, mRNA.	471					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GATGCGGTCGCCCTGCTCCTTG	0.693000														28			5		0	0	6.4e-05	0	0
OR5K4	403278	broad.mit.edu	37	3	98073283	98073283	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:98073283G>A	uc011bgv.2	+	0	586	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TTCTATTAATGAACTAATGAT	0.308000														42			11		0	0	0.000978159	0	0
SPESP1	246777	broad.mit.edu	37	15	69222999	69222999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:69222999C>T	uc002arn.2	+	0	161	c.7C>T	c.(7-9)Ccc>Tcc	p.P3S	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_5'UTR|NOX5_uc002arp.2_5'UTR|NOX5_uc010bid.2_5'UTR	NM_145658	NP_663633	Q6UW49	SPESP_HUMAN	Homo sapiens sperm equatorial segment protein 1 (SPESP1), mRNA.	3					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						GCCTATGAAGCCCTTAGTCCT	0.622000														74			16		0	0	0.000566183	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174246	207174246	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:207174246G>A	uc002vbp.2	+	4	5244	c.4994G>A	c.(4993-4995)gGa>gAa	p.G1665E		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1665							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						GGTTCTAAAGGAAAATTTAAT	0.408000														56			26		0	0	0.000878237	0	0
SLC22A11	55867	broad.mit.edu	37	11	64326684	64326684	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:64326684C>T	uc001oai.3	+	1	845	c.471C>T	c.(469-471)tcC>tcT	p.S157S	SLC22A11_uc001oah.1_Intron|SLC22A11_uc009ypq.3_Silent_p.S157S|SLC22A11_uc001oak.1_5'Flank	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	157					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TGGTGGGCTCCTTTATCTGGG	0.602000														26			4		0	0	0.00024832	0	0
P2RY14	9934	broad.mit.edu	37	3	150931448	150931448	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:150931448C>T	uc003eyr.1	-	2	1135	c.657G>A	c.(655-657)aaG>aaA	p.K219K	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron|P2RY14_uc003eys.1_Silent_p.K219K|P2RY14_uc021xfz.1_Silent_p.K219K	NM_001081455	NP_055694	Q15391	P2Y14_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 14 (P2RY14), transcript variant 1, mRNA.	219						integral to membrane|plasma membrane	UDP-activated nucleotide receptor activity|purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TCCGACTTGACTTAAGGTGGG	0.373000														45			7		0	0	0.000157383	0	0
LIF	3976	broad.mit.edu	37	22	30639958	30639958	+	Silent	SNP	C	T	T	rs146178572		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:30639958C>T	uc003agz.2	-	2	403	c.291G>A	c.(289-291)acG>acA	p.T97T	LIF_uc011aks.1_Missense_Mutation_p.G38R|MGC20647_uc003aha.3_5'Flank	NM_002309	NP_002300	P15018	LIF_HUMAN	Homo sapiens leukemia inhibitory factor (cholinergic differentiation factor) (LIF), mRNA.	97					immune response|leukemia inhibitory factor signaling pathway|negative regulation of hormone secretion|positive regulation of MAPKKK cascade|positive regulation of cell proliferation|positive regulation of macrophage differentiation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of metanephric nephron tubule epithelial cell differentiation		cytokine activity|growth factor activity|leukemia inhibitory factor receptor binding			breast(1)|lung(3)|skin(3)	7			Epithelial(10;0.171)			TGGCCTTCTCCGTGCCGTTGG	0.632000														19			4		0	0	0.000602214	0	0
JAK2	3717	broad.mit.edu	37	9	5123083	5123083	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:5123083C>A	uc010mhm.3	+	21	3252	c.3139C>A	c.(3139-3141)Ctt>Att	p.L1047I	JAK2_uc003ziw.3_Missense_Mutation_p.L1047I	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	1047	Protein kinase 2.				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TCTGTATGAACTTTTCACATA	0.348000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial					23			13		9.31168e-06	3.12918e-05	0.00185496	1	0
COL14A1	7373	broad.mit.edu	37	8	121209146	121209146	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:121209146G>A	uc003yox.3	+	5	818	c.553G>A	c.(553-555)Gtt>Att	p.V185I	COL14A1_uc003yoy.3_5'UTR|COL14A1_uc010mde.1_5'UTR	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	185	VWFA 1.				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)			GGAAAACCTGGTTACAGCATT	0.418000														169			31		0	0	0.00283554	0	0
WDR62	284403	broad.mit.edu	37	19	36557193	36557193	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:36557193T>G	uc002odd.2	+	4	516	c.425T>G	c.(424-426)gTg>gGg	p.V142G	WDR62_uc002odc.2_Missense_Mutation_p.V142G|WDR62_uc002odb.2_Missense_Mutation_p.V142G	NM_001083961	NP_001077430	O43379	WDR62_HUMAN	Homo sapiens WD repeat domain 62 (WDR62), transcript variant 1, mRNA.	142					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			ATCTGGGATGTGGAGGAGAAG	0.572000														19			4		0	0	0.000602214	0	0
ITIH2	3698	broad.mit.edu	37	10	7750997	7750997	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:7750997C>T	uc001ijs.3	+	3	367	c.205C>T	c.(205-207)Caa>Taa	p.Q69*		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	69	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AGAGGTTGATCAAGTAACTCT	0.398000														70			14		0	0	0.000422831	0	0
RNF213	57674	broad.mit.edu	37	17	78247198	78247198	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:78247198C>T	uc002jyh.2	+	2	399	c.256C>T	c.(256-258)Caa>Taa	p.Q86*	RNF213_uc002jyf.3_Nonsense_Mutation_p.Q86*|RNF213_uc021uen.1_Nonsense_Mutation_p.Q86*	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	75										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)			CTGGACCGTCCAAGAAGTGAG	0.632000														16			14		0	0	0.00244969	0	0
DDB1	1642	broad.mit.edu	37	11	61093105	61093105	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:61093105G>A	uc001nrc.4	-	5	966	c.740C>T	c.(739-741)gCt>gTt	p.A247V	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.A247V|DDB1_uc010rlg.1_Non-coding_Transcript|DDB1_uc001nrd.2_Missense_Mutation_p.A247V|DDB1_uc009ynl.1_Missense_Mutation_p.A134V	NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	247	Interaction with CDT1.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AGGGGCAATAGCCAGGTATTT	0.463000								Nucleotide excision repair (NER)						28			8		0	0	0.000442599	0	0
CPSF7	79869	broad.mit.edu	37	11	61188022	61188022	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:61188022G>A	uc001nrq.3	-	3	431	c.297C>T	c.(295-297)atC>atT	p.I99I	CPSF7_uc001nrp.3_Silent_p.I142I|CPSF7_uc001nrr.3_Silent_p.I99I|CPSF7_uc001nrs.1_Silent_p.I9I	NM_001136040	NP_001129512	Q8N684	CPSF7_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 7, 59kDa (CPSF7), transcript variant 2, mRNA.	99	RRM.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	RNA binding|nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GAATAACCTGGATCAGCTGCT	0.517000														61			22		0	0	0.000720815	0	0
ZNF609	23060	broad.mit.edu	37	15	64967235	64967235	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:64967235A>G	uc002ann.3	+	3	2182	c.2182A>G	c.(2182-2184)Aaa>Gaa	p.K728E		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	728	Poly-Lys.					nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAAGGACAAGAAAAAGAAAGA	0.493000														83			13		0	0	0.00185496	0	0
IL7R	3575	broad.mit.edu	37	5	35861078	35861078	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:35861078G>A	uc003jjs.3	+	1	296	c.207G>A	c.(205-207)ctG>ctA	p.L69L	IL7R_uc011coo.2_Silent_p.L69L|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	69					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TCACCAATCTGGAATTTGAAA	0.408000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							50			18		0	0	0.00121646	0	0
USH2A	7399	broad.mit.edu	37	1	215853563	215853563	+	Silent	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:215853563T>A	uc001hku.1	-	61	12609	c.12222A>T	c.(12220-12222)gtA>gtT	p.V4074V		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4074	Fibronectin type-III 26.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTTTCTGTTCTACTATAAAGT	0.418000										HNSCC(13;0.011)				58			8		0	0	0.000157383	0	0
COL6A3	1293	broad.mit.edu	37	2	238269788	238269788	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:238269788G>A	uc002vwl.2	-	15	6471	c.6186C>T	c.(6184-6186)ggC>ggT	p.G2062G	COL6A3_uc002vwo.2_Silent_p.G1856G|COL6A3_uc010znj.1_Silent_p.G1455G	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2062	Collagen-like 1.|Triple-helical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CACCAGGATAGCCTCGGTAGC	0.463000														20			17		0	0	0.000958276	0	0
ERG	2078	broad.mit.edu	37	21	39755561	39755561	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:39755561G>A	uc010gnw.3	-	11	1520	c.1225C>T	c.(1225-1227)Cac>Tac	p.H409Y	ERG_uc021wjd.1_Intron|ERG_uc002yxa.3_Missense_Mutation_p.H402Y|ERG_uc011aek.2_Missense_Mutation_p.H310Y|ERG_uc010gnv.3_Missense_Mutation_p.H286Y|ERG_uc010gnx.3_Missense_Mutation_p.H385Y|ERG_uc011ael.2_Missense_Mutation_p.H409Y|ERG_uc002yxb.3_Missense_Mutation_p.H385Y	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	409					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				TCCGGGGGGTGGGGCTGGAGG	0.587000			T	"""EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"""	"""Ewing sarcoma, prostate, AML"""									31			15		0	0	0.000422831	0	0
OR2B2	81697	broad.mit.edu	37	6	27879307	27879307	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:27879307G>A	uc011dkw.2	-	0	868	c.791C>T	c.(790-792)tCa>tTa	p.S264L		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						GGAGCTGGGTGAAGGTGGTTG	0.458000														68			11		0	0	0.000978159	0	0
RWDD3	25950	broad.mit.edu	37	1	95712135	95712135	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:95712135T>C	uc009wdu.3	+	2	687	c.611T>C	c.(610-612)gTg>gCg	p.V204A	RWDD3_uc001drh.4_Silent_p.C173C|RWDD3_uc001dri.4_Silent_p.C188C|RWDD3_uc001drf.4_Intron|RWDD3_uc009wdv.3_Non-coding_Transcript|RWDD3_uc001drg.4_Non-coding_Transcript	NM_015485	NP_056300	Q9Y3V2	RWDD3_HUMAN	Homo sapiens RWD domain containing 3 (RWDD3), transcript variant 1, mRNA.	204						cytoplasm|nucleus	protein binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		AAAGTAGATGTGGACTCAAGT	0.318000														70			25		0	0	0.00106085	0	0
OR52R1	119695	broad.mit.edu	37	11	4825358	4825358	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:4825358A>G	uc021qcs.1	-	0	253	c.253T>C	c.(253-255)Ttg>Ctg	p.L85L		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	85					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)		AATATGGCCAACATCTTAGGT	0.507000														42			7		0	0	0.000274275	0	0
PKP2	5318	broad.mit.edu	37	12	33031961	33031961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:33031961G>A	uc001rlj.4	-	1	344	c.229C>T	c.(229-231)Ctt>Ttt	p.L77F	PKP2_uc001rlk.4_Missense_Mutation_p.L77F|PKP2_uc010skj.2_Missense_Mutation_p.L77F	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	77					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GTTCGGTGAAGATTTCCTGCA	0.338000														63			13		0	0	0.00244969	0	0
TTN	7273	broad.mit.edu	37	2	179462773	179462773	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179462773C>T	uc021vsy.1	-	241	49645	c.49420G>A	c.(49420-49422)Gaa>Aaa	p.E16474K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E10169K|TTN_uc021vta.1_Missense_Mutation_p.E10102K|TTN_uc021vtb.1_Missense_Mutation_p.E9977K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17401	Fibronectin type-III 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P16473L(1)		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)			CCTCTCACTTCTTTATCTTTA	0.393000														108			16		0	0	0.00188189	0	0
KRT72	140807	broad.mit.edu	37	12	52984626	52984626	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:52984626C>T	uc001sar.2	-	5	1169	c.1083G>A	c.(1081-1083)aaG>aaA	p.K361K	KRT72_uc001saq.2_Silent_p.K361K|KRT72_uc010sns.1_Intron|KRT72_uc010snt.1_Silent_p.K173K	NM_001146225	NP_542785	Q14CN4	K2C72_HUMAN	Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA.	361	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		CCACCTGCTTCTTCACATTCC	0.483000														41			8		0	0	0.000157383	0	0
OR5T2	219464	broad.mit.edu	37	11	55999650	55999650	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:55999650C>T	uc010rjc.2	-	0	1012	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	338					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					TTCATTGAGTCTTTTACATCT	0.333000														45			14		0	0	0.00185496	0	0
TSIX	9383	broad.mit.edu	37	X	73045047	73045047	+	RNA	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:73045047C>T	uc004ebn.2	+	0		c.33008C>T			XIST_uc004ebm.1_Non-coding_Transcript					Homo sapiens TSIX transcript, XIST antisense RNA (non-protein coding) (TSIX), antisense RNA.																		CATGTGTTTTCGTTTCTGATA	0.333000														22			12		0	0	0.000978159	0	0
KIAA1383	54627	broad.mit.edu	37	1	232940797	232940797	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:232940797T>A	uc001hvh.2	+	0	160	c.28T>A	c.(28-30)Tgg>Agg	p.W10R		NM_019090	NP_061963	Q9P2G4	K1383_HUMAN	Homo sapiens KIAA1383 (KIAA1383), mRNA.	0										breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)	20		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)				GTTAACTAACTGGCTCTGTTT	0.473000														106			16		0	0	0.00121646	0	0
CDH9	1007	broad.mit.edu	37	5	26885885	26885885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:26885885C>T	uc003jgs.1	-	10	1889	c.1720G>A	c.(1720-1722)Gat>Aat	p.D574N	CDH9_uc011cnv.1_Missense_Mutation_p.D167N	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	574	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATTGGATAATCGTTGTCAAAG	0.453000														23			7		0	0	0.000157383	0	0
TRIML1	339976	broad.mit.edu	37	4	189060821	189060821	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:189060821C>T	uc003izm.1	+	0	224	c.109C>T	c.(109-111)Ctg>Ttg	p.L37L		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	37					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CAGCTTTTGTCTGGTGTGTCT	0.532000														88			9		0	0	0.000978159	0	0
SSH3	54961	broad.mit.edu	37	11	67075683	67075683	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:67075683C>T	uc001okj.3	+	8	1102	c.924C>T	c.(922-924)ctC>ctT	p.L308L	SSH3_uc001okk.3_Non-coding_Transcript|SSH3_uc001okl.3_Silent_p.L162L	NM_017857	NP_060327	Q8TE77	SSH3_HUMAN	Homo sapiens slingshot homolog 3 (Drosophila) (SSH3), mRNA.	308					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGCTCCCCCTCCAGCAGTACC	0.652000														33			11		0	0	0.00136819	0	0
UBE3C	9690	broad.mit.edu	37	7	156974994	156974994	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:156974994C>T	uc010lqs.3	+	7	1275	c.963C>T	c.(961-963)ttC>ttT	p.F321F	UBE3C_uc003wnf.2_Silent_p.F278F|UBE3C_uc003wng.2_Silent_p.F321F	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	321					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TTTTCTATTTCGTTTTAACTG	0.418000														91			12		0	0	0.00244969	0	0
UGT2B11	10720	broad.mit.edu	37	4	70066355	70066355	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:70066355C>T	uc003heh.3	-	5	1402	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	465					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						ATGACAAATTCAATCCAGAAG	0.418000														21			7		0	0	0.00198382	0	0
PEG10	23089	broad.mit.edu	37	7	94293378	94293378	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:94293378G>A	uc003uno.3	+	1	989	c.510G>A	c.(508-510)aaG>aaA	p.K170K	PEG10_uc011kie.2_Silent_p.K246K|PEG10_uc022ahn.1_Silent_p.K170K	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA.	170	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.K170*(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CCAAACGCAAGATCAGACGCC	0.537000														151			19		0	0	0.00188189	0	0
OR4E2	26686	broad.mit.edu	37	14	22133687	22133687	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:22133687C>T	uc010tmd.2	+	0	391	c.391C>T	c.(391-393)Cac>Tac	p.H131Y		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		CACTCCACTCCACTACCCCAA	0.483000														49			21		0	0	0.000586117	0	0
PTPRD	5789	broad.mit.edu	37	9	8504401	8504401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:8504401C>T	uc003zkk.3	-	22	2425	c.1682G>A	c.(1681-1683)cGa>cAa	p.R561Q	PTPRD_uc003zkp.3_Missense_Mutation_p.R561Q|PTPRD_uc003zkq.3_Missense_Mutation_p.R561Q|PTPRD_uc003zkr.3_Missense_Mutation_p.R555Q|PTPRD_uc003zks.3_Missense_Mutation_p.R551Q|PTPRD_uc022bdj.1_Missense_Mutation_p.R558Q	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	561	Fibronectin type-III 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATGGTAATTCGTTGCTGGAA	0.433000										TSP Lung(15;0.13)				43			21		0	0	0.000586117	0	0
DNAH3	55567	broad.mit.edu	37	16	21078707	21078707	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:21078707G>A	uc010vbe.2	-	23	3415	c.3415C>T	c.(3415-3417)Cag>Tag	p.Q1139*		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1139	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCCGTGGCTGGTCGGCTGCC	0.453000														73			14		0	0	0.000308642	0	0
PROX1	5629	broad.mit.edu	37	1	214170452	214170452	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:214170452G>A	uc001hkh.3	+	1	846	c.574G>A	c.(574-576)Gag>Aag	p.E192K	PROX1_uc001hkg.1_Missense_Mutation_p.E192K	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	192					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		AAATGAAAGAGAGATGGCCCC	0.517000														37			11		0	0	0.000978159	0	0
ENPP5	59084	broad.mit.edu	37	6	46135445	46135445	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:46135445G>A	uc003oxz.1	-	1	763	c.555C>T	c.(553-555)ctC>ctT	p.L185L	ENPP5_uc010jzc.1_Silent_p.L185L|ENPP5_uc011dvz.1_Silent_p.L91L|ENPP5_uc003oya.1_Silent_p.L185L	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	185						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						CTTCCCAATAGAGAAGACCAA	0.418000														81			14		0	0	0.00244969	0	0
CD1C	911	broad.mit.edu	37	1	158263252	158263252	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158263252C>T	uc001fru.3	+	5	1280	c.988C>T	c.(988-990)Cag>Tag	p.Q330*	CD1C_uc021pbl.1_Non-coding_Transcript	NM_001765	NP_001756	P29017	CD1C_HUMAN	Homo sapiens CD1c molecule (CD1C), mRNA.	330				CSYQDIL -> W (in Ref. 1; AAA51942).	T cell activation involved in immune response|antigen processing and presentation	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					CAGCTCATATCAGGACATCCT	0.483000														60			9		0	0	0.000673444	0	0
C2CD2	25966	broad.mit.edu	37	21	43325844	43325844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:43325844G>A	uc002yzw.3	-	10	1663	c.1421C>T	c.(1420-1422)tCt>tTt	p.S474F	C2CD2_uc002yzt.3_Missense_Mutation_p.S90F|C2CD2_uc002yzu.3_Missense_Mutation_p.S306F|C2CD2_uc002yzv.3_Missense_Mutation_p.S319F|C2CD2_uc002yzx.1_Missense_Mutation_p.S319F	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	474						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TGTGTCTGAAGAAGAGAGTGT	0.527000														26			8		0	0	0.000274275	0	0
ZDHHC23	254887	broad.mit.edu	37	3	113677249	113677249	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:113677249C>T	uc003eau.3	+	4	1379	c.1080C>T	c.(1078-1080)atC>atT	p.I360I	ZDHHC23_uc003eav.3_Silent_p.I354I|ZDHHC23_uc003eaw.1_Silent_p.I54I	NM_173570	NP_775841	Q8IYP9	ZDH23_HUMAN	Homo sapiens zinc finger, DHHC-type containing 23 (ZDHHC23), mRNA.	360						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						ACTCTGTGATCATCACAGCAG	0.522000														48			16		0	0	0.000958276	0	0
SLC25A17	10478	broad.mit.edu	37	22	41175075	41175075	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:41175075T>C	uc003azc.3	-	4	529	c.389A>G	c.(388-390)aAg>aGg	p.K130R	SLC25A17_uc010gyg.3_Non-coding_Transcript|SLC25A17_uc011aou.2_Missense_Mutation_p.K93R|SLC25A17_uc003azd.3_Non-coding_Transcript|SLC25A17_uc011aov.2_Missense_Mutation_p.K57R	NM_006358	NP_006349	O43808	PM34_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17 (SLC25A17), nuclear gene encoding mitochondrial protein, mRNA.	130					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						TCCTTGAAGCTTCAGTCTGGT	0.383000														23			18		0	0	0.000566183	0	0
CCDC132	55610	broad.mit.edu	37	7	92978030	92978030	+	Silent	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:92978030T>C	uc003umo.3	+	23	2343	c.2215T>C	c.(2215-2217)Ttg>Ctg	p.L739L	CCDC132_uc003ump.3_Silent_p.L709L|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Silent_p.L459L	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	739										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TAGGGTATTCTTGGCTGAACA	0.408000														74			13		0	0	0.000566183	0	0
HMCN1	83872	broad.mit.edu	37	1	186106980	186106980	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:186106980G>A	uc001grq.1	+	88	14029	c.13800G>A	c.(13798-13800)agG>agA	p.R4600R	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Silent_p.R169R	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4600	TSP type-1 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AATGCACAAGGAGCTGTGGAC	0.463000														59			5		0	0	0.00198382	0	0
FTSJD2	23070	broad.mit.edu	37	6	37414221	37414221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:37414221C>T	uc003ons.3	+	3	693	c.440C>T	c.(439-441)cCa>cTa	p.P147L	FTSJD2_uc010jwu.2_Missense_Mutation_p.P147L	NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.	147					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						CGAGATGAGCCAGAGGTAAGT	0.493000														144			37		0	0	0.00111076	0	0
C9	735	broad.mit.edu	37	5	39311367	39311367	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:39311367G>A	uc003jlv.4	-	6	1072	c.983C>T	c.(982-984)aCt>aTt	p.T328I		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	328	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTCATAGGTAGTTGGCAAAGC	0.383000														46			8		0	0	0.000157383	0	0
E2F8	79733	broad.mit.edu	37	11	19251093	19251093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:19251093C>T	uc001mpm.3	-	9	2323	c.1801G>A	c.(1801-1803)Gaa>Aaa	p.E601K	E2F8_uc009yhv.3_Intron|E2F8_uc001mpn.4_Missense_Mutation_p.E601K	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	601					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GAGCCTCTTTCTCCAGCTGGC	0.517000														73			25		0	0	0.00047179	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21331521	21331521	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:21331521G>A	uc001req.4	+	5	597	c.493G>A	c.(493-495)Gaa>Aaa	p.E165K		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	165					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTGTTTAAAGGAATCTGGGTC	0.323000														51			11		0	0	0.00244969	0	0
SPHKAP	80309	broad.mit.edu	37	2	228883615	228883615	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:228883615G>A	uc002vpq.2	-	6	2002	c.1955C>T	c.(1954-1956)tCa>tTa	p.S652L	SPHKAP_uc002vpp.2_Missense_Mutation_p.S652L|SPHKAP_uc010zlx.1_Missense_Mutation_p.S652L	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	652						cytoplasm	protein binding	p.A651S(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGAGACTTTGAAGCAGTTTC	0.463000														51			13		0	0	0.00136819	0	0
CGNL1	84952	broad.mit.edu	37	15	57730232	57730232	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:57730232A>C	uc010bfw.3	+	2	228	c.35A>C	c.(34-36)cAg>cCg	p.Q12P	CGNL1_uc002aeg.3_Missense_Mutation_p.Q12P	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	12	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CAACATGTGCAGCAGGAATAT	0.468000														112			36		0	0	0.00148497	0	0
MAN1C1	57134	broad.mit.edu	37	1	26107523	26107523	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:26107523G>A	uc001bkm.2	+	9	1900	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K	MAN1C1_uc009vry.1_Missense_Mutation_p.E344K	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	524					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		CCTCCGGCCAGAGGTGGTGGA	0.622000														38			10		0	0	0.00136819	0	0
CASP1	834	broad.mit.edu	37	11	104971442	104971442	+	Silent	SNP	G	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:104971442G>C	uc001pir.1	-	1	89	c.72C>G	c.(70-72)ggC>ggG	p.G24G	CASP1_uc010rve.2_Intron|CASP1_uc010rvf.2_Intron|CASP1_uc010rvg.2_Intron|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron	NM_001007232	NP_001007233	P29466	CASP1_HUMAN	Homo sapiens caspase recruitment domain family, member 17 (CARD17), mRNA.	24	CARD.				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	CACCCAGTAAGCCATTTATTG	0.433000														47			9		0	0	0.000274275	0	0
ASB17	127247	broad.mit.edu	37	1	76397819	76397819	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:76397819T>G	uc001dhe.2	-	0	298	c.158A>C	c.(157-159)aAa>aCa	p.K53T	ASB17_uc001dhf.2_Non-coding_Transcript	NM_080868	NP_543144	Q8WXJ9	ASB17_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 17 (ASB17), transcript variant 1, mRNA.	53					intracellular signal transduction			p.K53N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						CCTCAGAATTTTTGCCAGTGA	0.393000														98			34		0	0	0.000814825	0	0
ZNF701	55762	broad.mit.edu	37	19	53085577	53085577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:53085577G>A	uc010ydn.2	+	4	526	c.463G>A	c.(463-465)Gaa>Aaa	p.E155K	ZNF701_uc002pzs.2_Missense_Mutation_p.E89K|ZNF701_uc021uyw.1_Missense_Mutation_p.E155K	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TTGCTTCCAGGAAATTGAGAA	0.393000														77			12		0	0	0.00136819	0	0
ZNF442	79973	broad.mit.edu	37	19	12461221	12461221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:12461221C>T	uc002mtr.1	-	5	1789	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q	ZNF442_uc010xmk.1_Missense_Mutation_p.R324Q	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	Homo sapiens zinc finger protein 442 (ZNF442), mRNA.	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R393Q(2)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						CATATGACTTCGAAAGCTTGA	0.428000														111			16		0	0	0.00074312	0	0
MUC17	140453	broad.mit.edu	37	7	100678878	100678878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:100678878G>A	uc003uxp.1	+	2	4234	c.4181G>A	c.(4180-4182)gGa>gAa	p.G1394E	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1394	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CCTAGTGAAGGAACCACTCCG	0.512000														204			25		0	0	0.00178596	0	0
WWC1	23286	broad.mit.edu	37	5	167855772	167855772	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:167855772C>T	uc003lzu.3	+	12	2073	c.1980C>T	c.(1978-1980)acC>acT	p.T660T	WWC1_uc003lzv.3_Silent_p.T660T|WWC1_uc011den.2_Silent_p.T660T|WWC1_uc003lzw.3_Silent_p.T459T|WWC1_uc010jjf.1_5'Flank	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	660	C2.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		TGGGTGCGACCCGAATTCAGA	0.542000														31			10		0	0	0.000978159	0	0
MAGEE1	57692	broad.mit.edu	37	X	75649401	75649401	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:75649401C>T	uc004ecm.2	+	0	1356	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	360	Pro-rich.					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						ACTGCCAATCCCCGGTGAGGG	0.672000														16			7		0	0	0.00198382	0	0
DSCAM	1826	broad.mit.edu	37	21	41385037	41385037	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:41385037G>A	uc002yyq.1	-	32	6415	c.5963C>T	c.(5962-5964)tCc>tTc	p.S1988F	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.	1988				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	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.S1988F(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)				TGATTCTTGGGAGCTGCTCAT	0.562000														22			5		0	0	0.000602214	0	0
KCNJ1	3758	broad.mit.edu	37	11	128709697	128709697	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:128709697C>T	uc001qeo.1	-	1	550	c.499G>A	c.(499-501)Gga>Aga	p.G167R	KCNJ1_uc001qep.1_Missense_Mutation_p.G148R|KCNJ1_uc001qeq.1_Missense_Mutation_p.G148R|KCNJ1_uc001qer.1_Missense_Mutation_p.G148R|KCNJ1_uc001qes.1_Missense_Mutation_p.G148R|KCNJ1_uc021qsb.1_Missense_Mutation_p.G148R	NM_000220	NP_000211	P48048	IRK1_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 1 (KCNJ1), transcript variant rom-k1, mRNA.	167			G -> E (in BS2).		excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	ATTATAACTCCAAGTATAGAC	0.438000														51			18		0	0	0.00121646	0	0
OR4F6	390648	broad.mit.edu	37	15	102346365	102346365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:102346365C>T	uc010utr.2	+	0	443	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TTAGTCATTTCCTGGATTATA	0.403000														87			62		0	0	0.000781405	0	0
ZNF625	90589	broad.mit.edu	37	19	12256823	12256823	+	Silent	SNP	T	C	C	rs34016739		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:12256823T>C	uc010dyo.2	-	3	581	c.408A>G	c.(406-408)aaA>aaG	p.K136K	ZNF20_uc002mtg.2_Intron|ZNF625_uc010dyn.2_Non-coding_Transcript|ZNF625_uc002mth.3_Silent_p.K70K|ZNF625_uc021upn.1_Silent_p.K70K	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	Homo sapiens zinc finger protein 625 (ZNF625), transcript variant 1, mRNA.	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						AGTATGTACATTTATATGGCT	0.458000														47			10		0	0	0.000442599	0	0
MACC1	346389	broad.mit.edu	37	7	20198551	20198551	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:20198551C>T	uc003sus.4	-	4	1742	c.1433G>A	c.(1432-1434)aGa>aAa	p.R478K	MACC1_uc010kug.3_Missense_Mutation_p.R478K	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	478					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GTGCATCTCTCTGTGCTCAAC	0.393000														32			8		0	0	0.000157383	0	0
PRODH2	58510	broad.mit.edu	37	19	36297455	36297455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:36297455C>T	uc002obx.1	-	7	1124	c.1106G>A	c.(1105-1107)aGg>aAg	p.R369K		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	369					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGGCCGGCCCTGTGCGCAGC	0.637000														57			12		0	0	0.00185496	0	0
NR3C2	4306	broad.mit.edu	37	4	149356895	149356895	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:149356895G>A	uc003ilj.4	-	1	1481	c.1118C>T	c.(1117-1119)cCt>cTt	p.P373L	NR3C2_uc003ilk.4_Missense_Mutation_p.P373L|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	373	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	CTTAGGAAAAGGGACCTCTTG	0.498000														19			22		0	0	0.000720815	0	0
ZNF827	152485	broad.mit.edu	37	4	146824009	146824009	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:146824009G>A	uc003ikn.3	-	1	450	c.402C>T	c.(400-402)ctC>ctT	p.L134L	ZNF827_uc003ikm.3_Silent_p.L134L|ZNF827_uc010iox.3_Intron	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CTGCAGCATCGAGTTTGAGGG	0.597000														21			7		0	0	0.000157383	0	0
CXADRP3	440224	broad.mit.edu	37	18	14478132	14478132	+	RNA	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:14478132G>A	uc010xai.2	-	2		c.1432C>T								Homo sapiens coxsackie virus and adenovirus receptor pseudogene 3 (CXADRP3), non-coding RNA.																		AAAAGGAAAGGAACACGGAAA	0.393000														7			14		0	0	0.00244969	0	0
RORB	6096	broad.mit.edu	37	9	77280476	77280476	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:77280476G>T	uc004aji.3	+	6	1047	c.998G>T	c.(997-999)gGa>gTa	p.G333V	RORB_uc004ajh.3_Missense_Mutation_p.G322V	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	333	Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CTGTTTGAAGGAAAATATGGA	0.353000														57			24		7.07758e-08	2.38253e-07	0.000720815	1	0
NUP210L	91181	broad.mit.edu	37	1	154029408	154029408	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:154029408C>T	uc001fdw.3	-	22	3195	c.3123G>A	c.(3121-3123)caG>caA	p.Q1041Q	NUP210L_uc009woq.3_Intron|NUP210L_uc010peh.2_Silent_p.Q1041Q	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1041						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGTATTCGTCCTGTTGCTCCA	0.423000														62			6		0	0	0.00198382	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846657	47846657	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:47846657G>A	uc011dwm.2	-	2	1957	c.1923C>T	c.(1921-1923)atC>atT	p.I641I	PTCHD4_uc011dwn.2_Silent_p.I388I	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	641						integral to membrane	hedgehog receptor activity	p.I641I(1)									GGTTGAACACGATGAATCGGA	0.483000														81			8		0	0	0.000274275	0	0
UBE3B	89910	broad.mit.edu	37	12	109945401	109945401	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:109945401C>T	uc001top.3	+	14	2086	c.1483C>T	c.(1483-1485)Ctg>Ttg	p.L495L	UBE3B_uc001toq.3_Silent_p.L495L|UBE3B_uc001tos.3_5'Flank|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Silent_p.L495L	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	495					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GCTTCCCAAACTGTGGGCATT	0.493000														58			12		0	0	0.00185496	0	0
BAG3	9531	broad.mit.edu	37	10	121432051	121432051	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:121432051C>T	uc001lem.3	+	2	1098	c.792C>T	c.(790-792)tcC>tcT	p.S264S	BAG3_uc001lel.3_Silent_p.S264S	NM_004281	NP_004272	O95817	BAG3_HUMAN	Homo sapiens BCL2-associated athanogene 3 (BAG3), mRNA.	264					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GGGCGGCATCCCCGTTCAGGT	0.687000														13			4		0	0	0.000602214	0	0
BPI	671	broad.mit.edu	37	20	36940320	36940320	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:36940320G>A	uc002xib.2	+	4	655	c.593G>A	c.(592-594)cGa>cAa	p.R198Q		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	198					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding	p.R198Q(2)		kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCTGCGCTTCGAAACAAGATG	0.507000														35			7		0	0	0.000157383	0	0
OR9A4	130075	broad.mit.edu	37	7	141619132	141619132	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:141619132T>C	uc003vwu.1	+	0	457	c.457T>C	c.(457-459)Ttt>Ctt	p.F153L		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GGTGTTTGGGTTTCTTTTTCA	0.423000														144			12		0	0	0.00136819	0	0
FILIP1	27145	broad.mit.edu	37	6	76023567	76023567	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:76023567C>T	uc010kbe.3	-	5	2520	c.1990G>A	c.(1990-1992)Gat>Aat	p.D664N	FILIP1_uc003phy.1_Missense_Mutation_p.D661N|FILIP1_uc003phz.3_Missense_Mutation_p.D562N|FILIP1_uc003pia.3_Missense_Mutation_p.D661N|FILIP1_uc003pib.1_Missense_Mutation_p.D413N	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	661										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCCAGCTGATCATACTCATCT	0.393000														100			27		0	0	0.0024448	0	0
COL14A1	7373	broad.mit.edu	37	8	121237404	121237404	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:121237404C>T	uc003yox.3	+	14	2080	c.1815C>T	c.(1813-1815)tcC>tcT	p.S605S	COL14A1_uc003yoy.3_Silent_p.S283S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	605	Fibronectin type-III 4.				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)			CTATTTTCTCCATCTATGATG	0.393000														69			7		0	0	0.000157383	0	0
KIAA1804	84451	broad.mit.edu	37	1	233489594	233489594	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:233489594C>T	uc001hvt.4	+	2	1289	c.1028C>T	c.(1027-1029)cCc>cTc	p.P343L	KIAA1804_uc001hvs.1_Missense_Mutation_p.P343L	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	343	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GGAGAAGTCCCCTATCGGGGC	0.517000														24			10		0	0	0.000978159	0	0
TNFRSF10D	8793	broad.mit.edu	37	8	23003424	23003424	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:23003424C>T	uc003xcz.1	-	4	585	c.493G>A	c.(493-495)Ggg>Agg	p.G165R		NM_003840	NP_003831	Q9UBN6	TR10D_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain (TNFRSF10D), mRNA.	165					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TTGACCATCCCTCTGGGACAC	0.562000														58			17		0	0	0.00121646	0	0
CHRNA2	1135	broad.mit.edu	37	8	27319156	27319156	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:27319156C>T	uc010lur.3	-	6	2189	c.1580G>A	c.(1579-1581)gGa>gAa	p.G527E	CHRNA2_uc011lal.2_Missense_Mutation_p.G512E|CHRNA2_uc010lus.3_Missense_Mutation_p.G329E	NM_000742	NP_000733	Q15822	ACHA2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 2 (neuronal) (CHRNA2), mRNA.	527						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	TCAGATCATTCCAGCTAGGAA	0.572000														62			12		0	0	0.00185496	0	0
ZCWPW2	152098	broad.mit.edu	37	3	28562581	28562581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:28562581G>A	uc003ceh.3	+	8	1051	c.883G>A	c.(883-885)Gga>Aga	p.G295R	ZCWPW2_uc003cei.3_Missense_Mutation_p.G295R|ZCWPW2_uc010hfo.3_Missense_Mutation_p.G100R	NM_001040432	NP_001035522	Q504Y3	ZCPW2_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 2 (ZCWPW2), mRNA.	295							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						AGAAGGACATGGAGAGGAAAT	0.383000														23			4		0	0	0.000602214	0	0
DPPA4	55211	broad.mit.edu	37	3	109052744	109052744	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:109052744C>T	uc003dxq.4	-	1	206	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	DPPA4_uc011bho.2_Missense_Mutation_p.E51K|DPPA4_uc011bhp.1_Missense_Mutation_p.E51K	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	51						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GACATTTTTTCTTTGGTTCTC	0.428000														61			7		0	0	0.000442599	0	0
ITGA7	3679	broad.mit.edu	37	12	56088048	56088048	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:56088048G>A	uc001shh.3	-	17	2656	c.2436C>T	c.(2434-2436)tcC>tcT	p.S812S	ITGA7_uc001shg.3_Silent_p.S808S|ITGA7_uc010sps.2_Silent_p.S715S|ITGA7_uc009znw.3_Silent_p.S55S|ITGA7_uc009znx.3_Silent_p.S689S	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	852					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACCCTGCAATGGACAGTGGCA	0.607000														61			9		0	0	0.000673444	0	0
OR1L6	392390	broad.mit.edu	37	9	125512861	125512861	+	Silent	SNP	C	T	T	rs150308775		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:125512861C>T	uc022bna.1	+	0	735	c.735C>T	c.(733-735)caC>caT	p.H245H		NM_001004453	NP_001004453	Q8NGR2	OR1L6_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 6 (OR1L6), mRNA.	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	12						GTGGCTCCCACCTCACTGCAG	0.507000														25			5		0	0	0.00198382	0	0
MBOAT1	154141	broad.mit.edu	37	6	20126751	20126752	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:20126751_20126752GG>TT	uc003ncx.1	-	6	915_916	c.710_711CC>AA	c.(709-711)ccc>cAA	p.P237Q	MBOAT1_uc011dji.1_Missense_Mutation_p.P88Q	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 1 (MBOAT1), mRNA.	237					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			AACTTACTGTGGGAGAAGGTTC	0.431000														240			10		0	0	6.4e-05	0	0
TRIP10	9322	broad.mit.edu	37	19	6750016	6750016	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:6750016C>T	uc002mfs.3	+	11	1400	c.1334C>T	c.(1333-1335)cCc>cTc	p.P445L	TRIP10_uc010dux.2_Missense_Mutation_p.P389L|TRIP10_uc002mfr.3_Missense_Mutation_p.P389L|TRIP10_uc010duy.3_Non-coding_Transcript	NM_004240	NP_004231	Q15642	CIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA.	445	Interaction with CDC42.|Interaction with PDE6G (By similarity).				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi apparatus|cell cortex|cell projection|cytoskeleton|cytosol|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						AGCTTGGAGCCCCAGATCGCT	0.552000														49			12		0	0	0.00244969	0	0
SCN5A	6331	broad.mit.edu	37	3	38622577	38622577	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:38622577C>T	uc021wvo.1	-	15	3125	c.3073G>A	c.(3073-3075)Gaa>Aaa	p.E1025K	SCN5A_uc021wvk.1_Missense_Mutation_p.E1025K|SCN5A_uc021wvl.1_Missense_Mutation_p.E1025K|SCN5A_uc021wvm.1_Missense_Mutation_p.E1025K|SCN5A_uc021wvn.1_Missense_Mutation_p.E1025K|SCN5A_uc021wvp.1_Missense_Mutation_p.E1025K|SCN5A_uc021wvq.1_Missense_Mutation_p.E1025K|SCN5A_uc021wvr.1_Missense_Mutation_p.E1025K|SCN5A_uc021wvs.1_Missense_Mutation_p.E1025K|SCN5A_uc021wvt.1_Missense_Mutation_p.E1025K|SCN5A_uc021wvu.1_Missense_Mutation_p.E1025K|SCN5A_uc021wvv.1_Missense_Mutation_p.E1025K|SCN5A_uc021wvj.1_Missense_Mutation_p.E891K|SCN5A_uc021wvi.1_Missense_Mutation_p.E891K|SCN5A_uc021wvw.1_Missense_Mutation_p.E636K	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1025					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)	AACCGTGTTTCCTTGCGGGTG	0.682000														11			5		0	0	0.00198382	0	0
SCN4A	6329	broad.mit.edu	37	17	62036630	62036630	+	Missense_Mutation	SNP	G	A	A	rs80338785		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:62036630G>A	uc002jds.1	-	11	2091	c.2014C>T	c.(2014-2016)Cgt>Tgt	p.R672C		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	672			R -> C (in HOKPP2).|R -> G (in HOKPP2).|R -> H (in HOKPP2).|R -> S (in HOKPP2).		muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGTACCAGACGGAAGGAGCGT	0.607000														24			8		0	0	0.000673444	0	0
NETO2	81831	broad.mit.edu	37	16	47117221	47117221	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:47117221C>T	uc002eer.2	-	8	1902	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K	NETO2_uc002eeq.2_Missense_Mutation_p.E232K|NETO2_uc010vgf.2_Missense_Mutation_p.E490K	NM_018092	NP_060562	Q8NC67	NETO2_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 2 (NETO2), transcript variant 1, mRNA.	497						integral to membrane	receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	29		all_cancers(37;0.00114)|all_lung(18;0.00432)|Lung NSC(13;0.0384)|Breast(268;0.174)				ACTCGGTCTTCCAGGGCCTGC	0.438000										HNSCC(25;0.065)				36			17		0	0	0.00074312	0	0
KRT4	3851	broad.mit.edu	37	12	53202105	53202105	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:53202105C>T	uc001saz.3	-	5	1320	c.1320G>A	c.(1318-1320)cgG>cgA	p.R440R		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	366						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CGATCTCTGCCCGCAGCCTCT	0.547000														77			11		0	0	0.000308642	0	0
CD1E	913	broad.mit.edu	37	1	158325885	158325885	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158325885C>T	uc001fse.3	+	3	1187	c.894C>T	c.(892-894)atC>atT	p.I298I	CD1E_uc010pid.2_Silent_p.I296I|CD1E_uc010pie.2_Silent_p.I199I|CD1E_uc001fsh.3_Silent_p.I109I|CD1E_uc001fry.3_Intron|CD1E_uc001fsf.3_Silent_p.I298I|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Silent_p.I199I|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Silent_p.I208I|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Intron|CD1E_uc001frz.3_Silent_p.I208I|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Silent_p.I109I|CD1E_uc021pbm.1_Intron|CD1E_uc009wsw.3_Silent_p.I56I	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	298	Ig-like.				antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					ATGATCTAATCATCCATTGGG	0.547000														38			6		0	0	0.000157383	0	0
TMEM132D	121256	broad.mit.edu	37	12	129822329	129822329	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:129822329G>A	uc009zyl.1	-	3	1477	c.1149C>T	c.(1147-1149)atC>atT	p.I383I		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	383						integral to membrane		p.I383I(2)		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)		CCTCCACATCGATCTGCATGA	0.587000														70			17		0	0	0.000958276	0	0
OPHN1	4983	broad.mit.edu	37	X	67273531	67273531	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:67273531C>T	uc004dww.4	-	21	2574	c.2280G>A	c.(2278-2280)aaG>aaA	p.K760K	OPHN1_uc011mpg.2_Silent_p.K652K	NM_002547	NP_002538	O60890	OPHN1_HUMAN	Homo sapiens oligophrenin 1 (OPHN1), mRNA.	760	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	Rho GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						CAATATCTGGCTTTGGTTCTG	0.547000														19			5		0	0	0.000602214	0	0
EXOC2	55770	broad.mit.edu	37	6	572625	572625	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:572625G>A	uc003mtd.3	-	12	1472	c.1338C>T	c.(1336-1338)ccC>ccT	p.P446P	EXOC2_uc003mte.3_Silent_p.P446P|EXOC2_uc011dho.2_Silent_p.P41P	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	446					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CCACCCTGTGGGGAGTTTTGT	0.443000														103			23		0	0	0.000586117	0	0
VWA7	80737	broad.mit.edu	37	6	31735472	31735472	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31735472C>T	uc011dog.2	-	10	1801	c.1563G>A	c.(1561-1563)gtG>gtA	p.V521V	VWA7_uc003nxd.2_Silent_p.V196V	NM_025258	NP_079534	Q9Y334	G7C_HUMAN	Homo sapiens von Willebrand factor A domain containing 7 (VWA7), mRNA.	521						extracellular region											GCAGCCCATCCACGCTGAACA	0.557000														225			35		0	0	0.00111076	0	0
C17orf104	284071	broad.mit.edu	37	17	42745168	42745168	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:42745168C>T	uc002iha.3	+	4	2109	c.1889C>T	c.(1888-1890)tCa>tTa	p.S630L	C17orf104_uc002igy.1_Missense_Mutation_p.S464L|C17orf104_uc002igz.3_Missense_Mutation_p.S464L|C17orf104_uc010wja.1_Non-coding_Transcript	NM_001145080	NP_001138552	A2RUB1	CQ104_HUMAN	Homo sapiens chromosome 17 open reading frame 104 (C17orf104), mRNA.	630										autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|skin(1)	24						GATGGCTTATCACAAAATACA	0.413000														41			7		0	0	0.00198382	0	0
ZNF573	126231	broad.mit.edu	37	19	38229581	38229581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:38229581G>A	uc002ohe.3	-	4	1879	c.1810C>T	c.(1810-1812)Cat>Tat	p.H604Y	ZNF573_uc010efs.2_Missense_Mutation_p.H517Y|ZNF573_uc002ohd.3_Missense_Mutation_p.H602Y|ZNF573_uc002ohf.3_Missense_Mutation_p.H546Y|ZNF573_uc002ohg.3_Missense_Mutation_p.H516Y|ZNF573_uc021utv.1_Missense_Mutation_p.H516Y	NM_001172690	NP_001166161	Q86YE8	ZN573_HUMAN	Homo sapiens zinc finger protein 573 (ZNF573), transcript variant 3, mRNA.	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H546Y(1)		NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			CCACCAGTATGAATTTTCTGA	0.388000														60			14		0	0	0.00244969	0	0
ATP13A4	84239	broad.mit.edu	37	3	193185217	193185217	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:193185217C>T	uc003ftd.3	-	9	1110	c.1002G>A	c.(1000-1002)tgG>tgA	p.W334*	ATP13A4_uc003fte.1_Nonsense_Mutation_p.W334*|ATP13A4_uc011bsr.1_5'UTR|ATP13A4_uc010hzi.3_Non-coding_Transcript|ATP13A4_uc003ftf.4_Nonsense_Mutation_p.W40*	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	334					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TCTGTGTTTTCCAGGGCACAG	0.507000														50			10		0	0	0.000442599	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98388183	98388183	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:98388183C>T	uc001kmq.3	-	8	1571	c.1443G>A	c.(1441-1443)aaG>aaA	p.K481K	PIK3AP1_uc001kmo.3_Silent_p.K80K|PIK3AP1_uc001kmp.3_Silent_p.K303K	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	481						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCATAGAGTCCTTAGTGGCCC	0.423000														64			28		0	0	0.00058488	0	0
ACOT12	134526	broad.mit.edu	37	5	80626289	80626289	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:80626289G>A	uc003khl.4	-	14	1647	c.1592C>T	c.(1591-1593)tCc>tTc	p.S531F	RNU5E-1_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	531	START.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TTCTTCAATGGATTTTGACCA	0.363000														33			32		0	0	0.0024448	0	0
INTU	27152	broad.mit.edu	37	4	128628090	128628090	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:128628090C>T	uc003ifk.2	+	11	2340	c.2237C>T	c.(2236-2238)tCt>tTt	p.S746F	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	746										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TCTCAGGGCTCTGATGGTTTA	0.453000														54			14		0	0	0.000422831	0	0
UCP1	7350	broad.mit.edu	37	4	141483493	141483493	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:141483493G>A	uc011chj.2	-	4	739	c.663C>T	c.(661-663)atC>atT	p.I221I	UCP1_uc011chk.2_Silent_p.I220I	NM_021833	NP_068605	P25874	UCP1_HUMAN	Homo sapiens uncoupling protein 1 (mitochondrial, proton carrier) (UCP1), nuclear gene encoding mitochondrial protein, mRNA.	221					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					AAAATCCAGCGATAAGAGCCG	0.458000														15			7		0	0	0.00198382	0	0
OR8U8	504189	broad.mit.edu	37	11	56143323	56143323	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:56143323C>T	uc001nit.2	+	0	224	c.224C>T	c.(223-225)tCt>tTt	p.S75F		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										TGTTACTCTTCTGTCATTACA	0.393000														56			20		0	0	0.00152264	0	0
ERBB3	2065	broad.mit.edu	37	12	56488219	56488219	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:56488219C>T	uc001sjh.3	+	14	2014	c.1738C>T	c.(1738-1740)Cga>Tga	p.R580*	ERBB3_uc009zoj.3_Intron|ERBB3_uc010sqb.2_Intron|ERBB3_uc010sqc.2_Nonsense_Mutation_p.R521*|ERBB3_uc009zok.3_Nonsense_Mutation_p.R22*|ERBB3_uc001sjk.3_5'Flank	NM_001982	NP_001973	P21860	ERBB3_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 3 (avian) (ERBB3), transcript variant 1, mRNA.	580					Schwann cell differentiation|cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			TGCCCATTTTCGAGATGGGCC	0.527000														49			21		0	0	0.00229938	0	0
TJP2	9414	broad.mit.edu	37	9	71842944	71842944	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:71842944C>T	uc004ahe.3	+	8	1685	c.1367C>T	c.(1366-1368)cCc>cTc	p.P456L	TJP2_uc011lrs.2_Missense_Mutation_p.P433L|TJP2_uc011lrt.1_Missense_Mutation_p.P433L|TJP2_uc004ahd.3_Missense_Mutation_p.P456L|TJP2_uc004ahf.3_Missense_Mutation_p.P456L|TJP2_uc011lru.2_Missense_Mutation_p.P460L|TJP2_uc011lrv.2_Missense_Mutation_p.P487L	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN	Homo sapiens tight junction protein 2 (zona occludens 2) (TJP2), transcript variant 1, mRNA.	456					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GGTGCGACACCCACTCCCTTT	0.493000														13			8		0	0	0.000274275	0	0
TMC5	79838	broad.mit.edu	37	16	19501851	19501851	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:19501851G>A	uc002dgc.4	+	17	3457	c.2708G>A	c.(2707-2709)gGa>gAa	p.G903E	TMC5_uc010vaq.2_Missense_Mutation_p.G851E|TMC5_uc002dgb.4_Intron|TMC5_uc010var.2_Missense_Mutation_p.G903E|TMC5_uc002dgd.1_Missense_Mutation_p.G657E|TMC5_uc002dge.4_Missense_Mutation_p.G657E|TMC5_uc002dgf.4_Missense_Mutation_p.G586E|TMC5_uc002dgg.4_Missense_Mutation_p.G544E	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	903						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AACCTCATTGGAAGTGTGCAC	0.527000														106			31		0	0	0.00058488	0	0
OR10A5	144124	broad.mit.edu	37	11	6867534	6867535	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:6867534_6867535GG>AA	uc001met.1	+	0	621_622	c.621_622GG>AA	c.(619-624)gtggtc>gtAAtc	p.V208I		NM_178168	NP_835462	Q9H207	O10A5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 5 (OR10A5), mRNA.	208					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)		CCATTCTGGTGGTCATGATCCC	0.510000														72			13		0	0	6.4e-05	0	0
SREBF2	6721	broad.mit.edu	37	22	42296418	42296418	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:42296418C>T	uc003bbi.3	+	15	2992	c.2823C>T	c.(2821-2823)tcC>tcT	p.S941S	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript|MIR33A_uc011api.1_5'Flank	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	941					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGCAGAGTTCCTTCTGCCATT	0.622000														25			6		0	0	0.000442599	0	0
TAS1R2	80834	broad.mit.edu	37	1	19184086	19184086	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:19184086G>A	uc001bba.1	-	1	223	c.222C>T	c.(220-222)gcC>gcT	p.A74A		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	74					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CAAAGCGCATGGCCTGCATGA	0.527000														36			6		0	0	0.000157383	0	0
GABRA6	2559	broad.mit.edu	37	5	161116108	161116108	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:161116108C>T	uc003lyu.2	+	3	717	c.379C>T	c.(379-381)Cac>Tac	p.H127Y	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	127					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)	GTCCATTGCTCACAACATGAC	0.403000										TCGA Ovarian(5;0.080)				29			9		0	0	0.000442599	0	0
OR14C36	127066	broad.mit.edu	37	1	248512880	248512880	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248512880G>A	uc010pzl.2	+	0	804	c.804G>A	c.(802-804)caG>caA	p.Q268Q		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q268K(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						CAGCCACCCAGGATCTGATCC	0.458000														48			19		0	0	0.00121646	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155935153	155935153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:155935153G>A	uc001fmu.2	-	9	911	c.656C>T	c.(655-657)tCc>tTc	p.S219F	ARHGEF2_uc001fmr.2_Missense_Mutation_p.S147F|ARHGEF2_uc001fms.2_Missense_Mutation_p.S174F|ARHGEF2_uc001fmt.2_Missense_Mutation_p.S174F|ARHGEF2_uc010pgt.1_Missense_Mutation_p.S147F|ARHGEF2_uc010pgu.1_Missense_Mutation_p.S219F	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	174					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGAGTCTGTGGACTGTGAGAG	0.577000														40			14		0	0	0.00074312	0	0
MS4A6E	245802	broad.mit.edu	37	11	60107351	60107351	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:60107351C>T	uc001npd.3	+	2	381	c.367C>T	c.(367-369)Ctg>Ttg	p.L123L		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6E (MS4A6E), mRNA.	123						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						AACTCTGTCTCTGATGCTGGT	0.488000														95			22		0	0	0.000720815	0	0
HTT	3064	broad.mit.edu	37	4	3134593	3134593	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:3134593G>A	uc021xkv.1	+	17	2593	c.2448G>A	c.(2446-2448)aaG>aaA	p.K816K		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	816					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)		AAACACTGAAGGATGAGTCTT	0.388000														104			26		0	0	0.00127121	0	0
RAB6C	84084	broad.mit.edu	37	2	130738117	130738117	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:130738117G>A	uc002tpx.1	+	0	883	c.429G>A	c.(427-429)agG>agA	p.R143R	LOC100131320_uc002tpw.1_5'Flank	NM_032144	NP_115520	Q9H0N0	RAB6C_HUMAN	Homo sapiens RAB6C, member RAS oncogene family (RAB6C), mRNA.	143					protein transport|response to drug|small GTPase mediated signal transduction		GTP binding|GTPase activity			large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					AGGGAGAGAGGAAAGCCAAAG	0.448000														193			27		0	0	0.00106085	0	0
COPS2	9318	broad.mit.edu	37	15	49436470	49436470	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:49436470C>T	uc001zxh.3	-	2	279	c.200G>A	c.(199-201)tGg>tAg	p.W67*	COPS2_uc001zxf.3_Nonsense_Mutation_p.W67*|COPS2_uc010ufa.2_Intron	NM_001143887	NP_001137359	P61201	CSN2_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis) (COPS2), transcript variant 2, mRNA.	67					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		TTTAAATCCCCATTCTCCTTT	0.289000														58			11		0	0	0.000978159	0	0
CACNA2D2	9254	broad.mit.edu	37	3	50417203	50417203	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:50417203C>T	uc003daq.3	-	9	984	c.946G>A	c.(946-948)Gag>Aag	p.E316K	CACNA2D2_uc003dap.3_Missense_Mutation_p.E316K	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	316	VWFA.				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)	TCCAGCATCTCGCAGACAGAT	0.597000														28			9		0	0	0.000673444	0	0
SCN5A	6331	broad.mit.edu	37	3	38620973	38620973	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:38620973G>A	uc021wvo.1	-	16	3294	c.3242C>T	c.(3241-3243)cCt>cTt	p.P1081L	SCN5A_uc021wvk.1_Missense_Mutation_p.P1080L|SCN5A_uc021wvl.1_Intron|SCN5A_uc021wvm.1_Missense_Mutation_p.P1081L|SCN5A_uc021wvn.1_Missense_Mutation_p.P1080L|SCN5A_uc021wvp.1_Missense_Mutation_p.P1081L|SCN5A_uc021wvq.1_Missense_Mutation_p.P1080L|SCN5A_uc021wvr.1_Missense_Mutation_p.P1081L|SCN5A_uc021wvs.1_Missense_Mutation_p.P1081L|SCN5A_uc021wvt.1_Missense_Mutation_p.P1080L|SCN5A_uc021wvu.1_Intron|SCN5A_uc021wvv.1_Missense_Mutation_p.P1081L|SCN5A_uc021wvj.1_Intron|SCN5A_uc021wvi.1_Missense_Mutation_p.P947L|SCN5A_uc021wvw.1_Missense_Mutation_p.P691L	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1081					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)	ACCGGACACAGGCTGGGATTC	0.657000														12			4		0	0	0.000602214	0	0
TEX15	56154	broad.mit.edu	37	8	30703216	30703216	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:30703216C>T	uc003xil.3	-	0	3318	c.3318G>A	c.(3316-3318)agG>agA	p.R1106R		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1106	Ser-rich.									NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CCATACTTTTCCTAGAAAGGC	0.388000														63			14		0	0	0.00185496	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121452	38121452	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:38121452C>T	uc003atr.3	+	6	3160	c.2889C>T	c.(2887-2889)tcC>tcT	p.S963S	TRIOBP_uc003atu.3_Silent_p.S791S|TRIOBP_uc003atq.1_Silent_p.S963S|TRIOBP_uc003ats.1_Silent_p.S791S	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	963					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CACCCCAGTCCTCCTTTGGCC	0.642000														50			17		0	0	0.000566183	0	0
CADM3	57863	broad.mit.edu	37	1	159166775	159166775	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:159166775G>A	uc001ftl.2	+	6	1056	c.877G>A	c.(877-879)Gac>Aac	p.D293N	CADM3_uc009wsy.1_Missense_Mutation_p.D247N|CADM3_uc001ftk.2_Missense_Mutation_p.D327N|LOC100131825_uc001ftm.2_Non-coding_Transcript	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	293	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CAACAAGAGTGACAGTGGCAC	0.562000														34			10		0	0	0.000673444	0	0
ZFP42	132625	broad.mit.edu	37	4	188924305	188924305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:188924305C>T	uc003izh.1	+	3	752	c.344C>T	c.(343-345)tCc>tTc	p.S115F	ZFP42_uc003izi.1_Missense_Mutation_p.S115F|ZFP42_uc021xvm.1_Missense_Mutation_p.S115F	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	115					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)		GAAGCAAGCTCCCTTGAATGT	0.398000														49			14		0	0	0.00244969	0	0
CEACAM20	125931	broad.mit.edu	37	19	45033495	45033495	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:45033495C>T	uc010ejn.1	-	0	54	c.38G>A	c.(37-39)gGa>gAa	p.G13E	CEACAM20_uc010ejo.1_Missense_Mutation_p.G13E|CEACAM20_uc010ejp.1_Missense_Mutation_p.G13E|CEACAM20_uc010ejq.1_Missense_Mutation_p.G13E	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	13						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AAGCAGGATTCCCATCCAGTG	0.582000														95			13		0	0	0.00074312	0	0
MPP6	51678	broad.mit.edu	37	7	24689321	24689321	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:24689321C>T	uc003swx.3	+	4	660	c.361C>T	c.(361-363)Cag>Tag	p.Q121*	MPP6_uc003swy.3_Nonsense_Mutation_p.Q121*	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	121					protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TATCAATAATCAGTTATTACC	0.383000														100			14		0	0	0.00244969	0	0
CACNA1E	777	broad.mit.edu	37	1	181726166	181726166	+	Silent	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:181726166C>G	uc009wxt.3	+	29	4428	c.4233C>G	c.(4231-4233)ccC>ccG	p.P1411P	CACNA1E_uc001gow.3_Silent_p.P1411P|CACNA1E_uc009wxs.3_Silent_p.P1392P|CACNA1E_uc001gox.1_Silent_p.P637P	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1411					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGGTCTTCCCCTTCTTCTTTG	0.483000														47			8		0	0	0.000274275	0	0
RP1	6101	broad.mit.edu	37	8	55542526	55542526	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:55542526G>A	uc003xsd.1	+	3	6232	c.6084G>A	c.(6082-6084)ttG>ttA	p.L2028L	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	2028					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.D2027N(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AACCAGATTTGAAGGAAAGGT	0.338000														116			11		0	0	0.00185496	0	0
SLC27A6	28965	broad.mit.edu	37	5	128365291	128365291	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:128365291T>G	uc003kuy.3	+	9	1970	c.1574T>G	c.(1573-1575)aTg>aGg	p.M525R	SLC27A6_uc003kuz.3_Missense_Mutation_p.M525R	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	525					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		AGAGCAGGAATGGCTTCTATT	0.289000														34			6		0	0	0.00198382	0	0
MAMDC2	256691	broad.mit.edu	37	9	72840934	72840934	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:72840934G>A	uc004ahm.2	+	13	2664	c.2047G>A	c.(2047-2049)Gaa>Aaa	p.E683K	MAMDC2_uc004ahn.2_Non-coding_Transcript|LOC100507299_uc004ahq.1_Intron|LOC100507299_uc022bhz.1_Intron	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	683						endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						GGACTTAAATGAAATTGAGTA	0.299000														27			30		0	0	0.000692331	0	0
DENND5A	23258	broad.mit.edu	37	11	9202335	9202335	+	Silent	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:9202335T>C	uc001mhl.3	-	5	1691	c.1434A>G	c.(1432-1434)agA>agG	p.R478R	DENND5A_uc010rbw.2_Silent_p.R478R|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	478										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCACCCCAGTTCTCTTGACCA	0.498000														86			19		0	0	0.00278032	0	0
SYNE1	23345	broad.mit.edu	37	6	152716751	152716751	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:152716751A>G	uc021zhb.1	-	48	7835	c.7612T>C	c.(7612-7614)Ttc>Ctc	p.F2538L	SYNE1_uc003qot.4_Missense_Mutation_p.F2545L|SYNE1_uc003qou.4_Missense_Mutation_p.F2538L|SYNE1_uc010kjb.1_Missense_Mutation_p.F2521L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2538					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TCCGTATTGAACCTTTCTTCC	0.373000										HNSCC(10;0.0054)				41			13		0	0	0.00136819	0	0
SIM2	6493	broad.mit.edu	37	21	38095380	38095380	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:38095380G>A	uc002yvr.2	+	4	548	c.492G>A	c.(490-492)atG>atA	p.M164I	SIM2_uc002yvq.3_Missense_Mutation_p.M164I	NM_005069	NP_005060	Q14190	SIM2_HUMAN	Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA.	164					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						TTCTTCGAATGAAATGTGTCT	0.547000														43			18		0	0	0.000586117	0	0
CEP128	145508	broad.mit.edu	37	14	80971266	80971266	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:80971266G>A	uc001xux.2	-	22	3341	c.3170C>T	c.(3169-3171)tCa>tTa	p.S1057L	CEP128_uc010asz.2_Non-coding_Transcript	NM_152446	NP_689659	Q6ZU80	CE128_HUMAN	Homo sapiens centrosomal protein 128kDa (CEP128), mRNA.	1057						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						GTTCACGTATGAAAATCTTGG	0.398000														22			10		0	0	0.000673444	0	0
FCGBP	8857	broad.mit.edu	37	19	40430384	40430384	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:40430384C>T	uc002omp.4	-	2	1567	c.1559G>A	c.(1558-1560)cGg>cAg	p.R520Q		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	520	VWFD 1.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCGGCTGCCCCGGTGCTCGTT	0.652000														15			4		0	0	0.000602214	0	0
FGF13	2258	broad.mit.edu	37	X	137715087	137715087	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:137715087C>T	uc004fam.3	-	4	1324	c.662G>A	c.(661-663)gGg>gAg	p.G221E	FGF13_uc004fan.3_Missense_Mutation_p.G168E|FGF13_uc011mwi.2_Missense_Mutation_p.G202E|FGF13_uc004faq.3_Missense_Mutation_p.G231E|FGF13_uc004far.3_Missense_Mutation_p.G202E|FGF13_uc011mwj.2_Missense_Mutation_p.G231E|FGF13_uc011mwk.2_Missense_Mutation_p.G175E	NM_004114	NP_004105	Q92913	FGF13_HUMAN	Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 1, mRNA.	221					MAPKKK cascade|cell-cell signaling|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GGTTGGGGTCCCGCTTCCAGA	0.522000														22			11		0	0	0.00185496	0	0
CDH2	1000	broad.mit.edu	37	18	25585831	25585831	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:25585831G>A	uc002kwg.2	-	5	1288	c.829C>T	c.(829-831)Cct>Tct	p.P277S	CDH2_uc010xbn.1_Missense_Mutation_p.P246S	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	277	Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GATCCCTCAGGAACTGTCCCA	0.398000														31			60		0	0	0.000781405	0	0
SPTA1	6708	broad.mit.edu	37	1	158650416	158650417	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158650416_158650417CC>TT	uc001fst.1	-	4	833_834	c.634_635GG>AA	c.(634-636)ggg>AAg	p.G212K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	212					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.G212V(2)		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)					AACAACTCTCCCTTCTTTAGCT	0.465000														62			17		0	0	6.4e-05	0	0
FAT3	120114	broad.mit.edu	37	11	92613902	92613902	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:92613902C>T	uc001pdj.4	+	21	12150	c.12133C>T	c.(12133-12135)Cag>Tag	p.Q4045*	FAT3_uc001pdi.4_Nonsense_Mutation_p.Q485*	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4045	EGF-like 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCAGGCTATCAGTGTACCTG	0.502000										TCGA Ovarian(4;0.039)				128			31		0	0	0.000814825	0	0
VWF	7450	broad.mit.edu	37	12	6128270	6128270	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:6128270G>A	uc001qnn.1	-	27	4564	c.4314C>T	c.(4312-4314)ttC>ttT	p.F1438F	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1438	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGCTCAGCACGAAGGCCTTGT	0.592000														27			7		0	0	0.00198382	0	0
OR4M2	390538	broad.mit.edu	37	15	22368766	22368766	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:22368766C>T	uc010tzu.2	+	0	289	c.191C>T	c.(190-192)gCt>gTt	p.A64V	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		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)		TTCCTGTTGGCTAATCTGGCC	0.403000														151			11		0	0	0.000978159	0	0
PRKG2	5593	broad.mit.edu	37	4	82010939	82010939	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:82010939G>A	uc003hmh.2	-	17	2225	c.2212C>T	c.(2212-2214)Cac>Tac	p.H738Y	PRKG2_uc011ccf.1_Missense_Mutation_p.H318Y|PRKG2_uc011ccg.1_Missense_Mutation_p.H318Y|PRKG2_uc011cch.1_Missense_Mutation_p.H709Y	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	738	AGC-kinase C-terminal.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AAGTAGCTGTGATCTATGGGT	0.368000														40			7		0	0	0.00198382	0	0
LAMA3	3909	broad.mit.edu	37	18	21396436	21396436	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:21396436G>A	uc002kuq.3	+	17	2218	c.2132G>A	c.(2131-2133)gGa>gAa	p.G711E	LAMA3_uc002kur.3_Missense_Mutation_p.G711E	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	711	Domain V.|Laminin EGF-like 8.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CATGTCGTGGGAAAGGTGTGC	0.567000														23			5		0	0	0.000157383	0	0
IL1RL2	8808	broad.mit.edu	37	2	102805703	102805703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:102805703G>A	uc002tbs.3	+	2	352	c.226G>A	c.(226-228)Gac>Aac	p.D76N	IL1RL2_uc002tbt.3_Intron	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	76	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AATTCACCAGGACGAGACTTG	0.393000														18			12		0	0	0.00185496	0	0
OXTR	5021	broad.mit.edu	37	3	8809232	8809232	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:8809232G>A	uc003brc.3	-	2	1264	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_000916	NP_000907	P30559	OXYR_HUMAN	Homo sapiens oxytocin receptor (OXTR), mRNA.	214					female pregnancy|lactation|muscle contraction	integral to plasma membrane	oxytocin receptor activity|vasopressin receptor activity			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)	CAGCGAGCACGATGACCGGCA	0.642000														24			6		0	0	0.00116845	0	0
TCTE1	202500	broad.mit.edu	37	6	44250045	44250045	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:44250045G>A	uc003oxi.2	-	3	1254	c.1098C>T	c.(1096-1098)tcC>tcT	p.S366S	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	366								p.S366F(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTAGGTTGAGGGAAATGAGGT	0.612000														121			46		0	0	0.000781405	0	0
CRB1	23418	broad.mit.edu	37	1	197396624	197396624	+	Silent	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:197396624T>G	uc001gtz.3	+	6	2378	c.2169T>G	c.(2167-2169)ggT>ggG	p.G723G	CRB1_uc010poz.2_Silent_p.G654G|CRB1_uc009wza.3_Silent_p.G611G|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Intron|CRB1_uc010ppc.1_Non-coding_Transcript|CRB1_uc010ppd.2_Silent_p.G204G|CRB1_uc001gub.1_Silent_p.G372G	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	723	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						ACTCCACTGGTTATGTCATCT	0.428000														54			6		0	0	0.00116845	0	0
FEN1	2237	broad.mit.edu	37	11	61563639	61563639	+	Missense_Mutation	SNP	C	T	T	rs138109450		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:61563639C>T	uc021qkj.1	+	0	806	c.806C>T	c.(805-807)cCt>cTt	p.P269L	FEN1_uc001nsg.3_Missense_Mutation_p.P269L	NM_004111	NP_004102	P39748	FEN1_HUMAN	Homo sapiens flap structure-specific endonuclease 1 (FEN1), mRNA.	269					DNA replication, removal of RNA primer|S phase of mitotic cell cycle|UV protection|base-excision repair|double-strand break repair|phosphatidylinositol-mediated signaling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrion|nucleolus|nucleoplasm	5'-3' exonuclease activity|5'-flap endonuclease activity|damaged DNA binding|double-stranded DNA binding|double-stranded DNA specific exodeoxyribonuclease activity|metal ion binding|protein binding|ribonuclease H activity			endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						AACAAGTACCCTGTGCCAGAA	0.572000								Editing and processing nucleases						29			7		0	0	0.00198382	0	0
LGI1	9211	broad.mit.edu	37	10	95552643	95552643	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:95552643C>T	uc001kjc.4	+	5	983	c.647C>T	c.(646-648)tCg>tTg	p.S216L	LGI1_uc021pwk.1_Missense_Mutation_p.S216L|LGI1_uc010qnv.2_Missense_Mutation_p.S168L|LGI1_uc009xui.3_Non-coding_Transcript	NM_005097	NP_005088	O95970	LGI1_HUMAN	Homo sapiens leucine-rich, glioma inactivated 1 (LGI1), mRNA.	216	LRRCT.				axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				AGTCTCTCCTCGAAGGATTTT	0.418000														27			16		0	0	0.00188189	0	0
CLEC4C	170482	broad.mit.edu	37	12	7883484	7883484	+	Silent	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:7883484T>G	uc001qtg.1	-	4	580	c.406A>C	c.(406-408)Aga>Cga	p.R136R	CLEC4C_uc001qth.1_Silent_p.R136R|CLEC4C_uc001qti.1_Silent_p.R105R	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.	136	C-type lectin.				innate immune response	integral to membrane	sugar binding	p.R136I(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		GAAGAATTTCTTTTCAGATTC	0.453000														47			12		0	0	0.00244969	0	0
MRC2	9902	broad.mit.edu	37	17	60741973	60741973	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:60741973G>A	uc002jad.3	+	1	585	c.183G>A	c.(181-183)caG>caA	p.Q61Q	Y_RNA_uc021ubi.1_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	61	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						AGGGCGGGCAGGTCAGAGTCA	0.622000														36			5		0	0	0.000602214	0	0
KIAA1462	57608	broad.mit.edu	37	10	30317902	30317902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:30317902C>T	uc009xle.2	-	2	1312	c.1175G>A	c.(1174-1176)gGa>gAa	p.G392E	KIAA1462_uc001iux.3_Missense_Mutation_p.G392E|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.G254E	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	392	Pro-rich.							p.G392E(2)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ATTCCCAGTTCCAGGGGGGCC	0.617000														37			14		0	0	0.00244969	0	0
PPP4R4	57718	broad.mit.edu	37	14	94731805	94731805	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:94731805C>T	uc001ycs.1	+	20	2433	c.2279C>T	c.(2278-2280)tCg>tTg	p.S760L		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	760						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						GTCACCCCATCGACAAGTAAG	0.373000														19			11		0	0	0.000978159	0	0
ZNF235	9310	broad.mit.edu	37	19	44792819	44792819	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:44792819G>A	uc002oza.4	-	4	872	c.769C>T	c.(769-771)Cac>Tac	p.H257Y	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF235_uc002ozb.4_Missense_Mutation_p.H253Y	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				TGTCCTGTGTGAATACTACGC	0.393000														22			7		0	0	0.000274275	0	0
ZBTB40	9923	broad.mit.edu	37	1	22852823	22852823	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:22852823C>T	uc001bft.2	+	18	4165	c.3654C>T	c.(3652-3654)ctC>ctT	p.L1218L	ZBTB40_uc001bfu.2_Silent_p.L1218L|ZBTB40_uc009vqi.1_Silent_p.L1106L	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	1218					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GCTCTGAGCTCGTGGCGGTGA	0.582000														66			14		0	0	0.00121646	0	0
DNAH7	56171	broad.mit.edu	37	2	196759856	196759856	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:196759856C>T	uc002utj.4	-	29	4841	c.4740G>A	c.(4738-4740)atG>atA	p.M1580I		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1580	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.M1580L(1)		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						TTTGCAAATTCATGGAGGCAC	0.373000														67			9		0	0	0.000673444	0	0
CREB5	9586	broad.mit.edu	37	7	28534529	28534529	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:28534529C>T	uc003szq.3	+	2	471	c.81C>T	c.(79-81)ttC>ttT	p.F27F	CREB5_uc003szo.3_5'UTR|CREB5_uc003szr.3_Silent_p.F20F	NM_182898	NP_878902	Q02930	CREB5_HUMAN	Homo sapiens cAMP responsive element binding protein 5 (CREB5), transcript variant 1, mRNA.	27					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GACAGCGCTTCCCAACAGAGG	0.363000														290			54		0	0	0.000781405	0	0
ARHGAP32	9743	broad.mit.edu	37	11	128839676	128839676	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:128839676T>A	uc009zcp.3	-	21	5390	c.5390A>T	c.(5389-5391)gAt>gTt	p.D1797V	ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Missense_Mutation_p.D756V|ARHGAP32_uc001qez.3_Missense_Mutation_p.D1448V	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	1797	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi membrane|cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						TTTCCCAGGATCTGATTTACT	0.542000														62			9		0	0	0.000673444	0	0
MARCH10	162333	broad.mit.edu	37	17	60813389	60813389	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:60813389C>T	uc010dds.3	-	6	2239	c.1954G>A	c.(1954-1956)Gat>Aat	p.D652N	MARCH10_uc010ddr.3_Missense_Mutation_p.D614N|MARCH10_uc002jag.4_Missense_Mutation_p.D614N|MARCH10_uc002jah.2_Missense_Mutation_p.D613N|BC037347_uc002jaj.1_Non-coding_Transcript|BC037347_uc002jak.3_Intron	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	614							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CTCCCATTATCATTTTGATTT	0.413000														82			22		0	0	0.00229938	0	0
TNC	3371	broad.mit.edu	37	9	117810801	117810801	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:117810801G>A	uc004bjj.4	-	15	5002	c.4590C>T	c.(4588-4590)ccC>ccT	p.P1530P	TNC_uc010mvf.3_Intron|TNC_uc022bmj.1_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1530	Fibronectin type-III 11.				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						TTTCCAGAAGGGGCAGGGCCT	0.483000														25			4		0	0	0.000602214	0	0
LRRC16B	90668	broad.mit.edu	37	14	24523473	24523473	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:24523473T>C	uc001wlj.2	+	3	366	c.209T>C	c.(208-210)cTg>cCg	p.L70P		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	70										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TTCAATGTCCTGGAGATCCGT	0.602000														31			10		0	0	0.000673444	0	0
DDX41	51428	broad.mit.edu	37	5	176940065	176940065	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:176940065C>T	uc003mho.3	-	11	1270	c.1249G>A	c.(1249-1251)Gag>Aag	p.E417K	DOK3_uc003mhi.4_5'Flank|DOK3_uc003mhj.4_5'Flank|DDX41_uc003mhn.3_Missense_Mutation_p.E286K|DDX41_uc003mhp.3_Missense_Mutation_p.E286K|DDX41_uc003mhq.1_Missense_Mutation_p.E197K	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	417	Helicase C-terminal.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|RNA binding|protein binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	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)|Epithelial(233;0.191)			TTGGCCTCCTCCTTCACATAT	0.612000														57			30		0	0	0.00058488	0	0
TMC2	117532	broad.mit.edu	37	20	2621818	2621818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:2621818G>A	uc002wgf.1	+	19	2557	c.2542G>A	c.(2542-2544)Gac>Aac	p.D848N	TMC2_uc002wgg.1_Missense_Mutation_p.D832N	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	848						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCAGGCCATGGACAAGAAGGC	0.572000														70			15		0	0	0.000958276	0	0
MMP16	4325	broad.mit.edu	37	8	89086840	89086840	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:89086840G>A	uc003yeb.4	-	6	1497	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	405	Hemopexin-like 2.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TACCTTTAAAGAACACAAAAT	0.393000														45			5		0	0	0.00198382	0	0
SLC30A8	169026	broad.mit.edu	37	8	118184870	118184870	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:118184870C>T	uc003yoh.3	+	7	1290	c.1060C>T	c.(1060-1062)Cca>Tca	p.P354S	SLC30A8_uc010mcz.3_Missense_Mutation_p.P305S|SLC30A8_uc003yog.3_Missense_Mutation_p.P305S|SLC30A8_uc011lia.2_Missense_Mutation_p.P305S|SLC30A8_uc022bab.1_Missense_Mutation_p.P305S	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	354					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			GATGGAATCTCCAGTTGACCA	0.507000														151			21		0	0	0.00106085	0	0
LRWD1	222229	broad.mit.edu	37	7	102106288	102106288	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:102106288C>T	uc003uzn.3	+	1	243	c.105C>T	c.(103-105)tcC>tcT	p.S35S	ALKBH4_uc003uzl.3_5'Flank|ALKBH4_uc003uzm.3_5'Flank	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA.	35					DNA-dependent DNA replication initiation|G1 phase of mitotic cell cycle|chromatin modification|establishment of protein localization to chromatin	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						AGCTGCTTTCCGAGCACCTGG	0.622000														37			7		0	0	0.00198382	0	0
RALB	5899	broad.mit.edu	37	2	121036296	121036296	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:121036296T>A	uc002tmk.3	+	1	246	c.56T>A	c.(55-57)aTg>aAg	p.M19K	RALB_uc010yys.2_Missense_Mutation_p.M41K|RALB_uc002tml.3_Missense_Mutation_p.M19K|RALB_uc010yyt.2_Non-coding_Transcript	NM_002881	NP_002872	P11234	RALB_HUMAN	Homo sapiens v-ral simian leukemia viral oncogene homolog B (ras related; GTP binding protein) (RALB), mRNA.	19					Ras protein signal transduction|apoptosis|cell cycle|cytokinesis|nerve growth factor receptor signaling pathway|regulation of exocyst assembly|regulation of exocyst localization	cytosol|midbody|plasma membrane	GTP binding|GTPase activity|protein binding	p.M19T(2)|p.M19I(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(154;0.122)				AAGGTGATCATGGTTGGCAGC	0.567000														19			17		0	0	0.00229938	0	0
C2orf77	129881	broad.mit.edu	37	2	170506900	170506900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:170506900C>T	uc002ufe.2	-	6	1185	c.1091G>A	c.(1090-1092)aGa>aAa	p.R364K		NM_001085447	NP_001078916	Q0VFZ6	CB077_HUMAN	Homo sapiens chromosome 2 open reading frame 77 (C2orf77), mRNA.	364										endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|urinary_tract(2)	23						ATCTTTTTCTCTTTCTCTTTT	0.313000														53			12		0	0	0.000978159	0	0
PPFIA4	8497	broad.mit.edu	37	1	203037626	203037626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:203037626C>T	uc009xaj.3	+	31	3569	c.3569C>T	c.(3568-3570)tCt>tTt	p.S1190F	PPFIA4_uc010pqf.2_Missense_Mutation_p.S772F|PPFIA4_uc001gyz.3_Missense_Mutation_p.S559F|PPFIA4_uc001gza.3_Missense_Mutation_p.S550F|PPFIA4_uc001gzb.1_Missense_Mutation_p.S245F|PPFIA4_uc001gzc.1_Missense_Mutation_p.S101F			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	559					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						TGGGTCCAGTCTATTGGGCTC	0.557000														16			5		0	0	0.000602214	0	0
HEPACAM	220296	broad.mit.edu	37	11	124793776	124793776	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:124793776G>A	uc001qbk.3	-	2	964	c.558C>T	c.(556-558)ccC>ccT	p.P186P	HEPACAM_uc009zbj.3_5'Flank|HEPACAM_uc001qbl.1_Silent_p.P186P	NM_152722	NP_689935	Q14CZ8	HECAM_HUMAN	Homo sapiens hepatic and glial cell adhesion molecule (HEPACAM), mRNA.	186	Ig-like C2-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CATTGAGGAGGGGCTTGCCAT	0.577000														14			11		0	0	0.000978159	0	0
TNXB	7148	broad.mit.edu	37	6	32037356	32037356	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:32037356C>T	uc003nzl.2	-	14	5763	c.5561G>A	c.(5560-5562)gGc>gAc	p.G1854D		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1936					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						CGAGATGGGGCCCACACGCTT	0.662000														109			40		0	0	0.0025221	0	0
IFT172	26160	broad.mit.edu	37	2	27676352	27676352	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:27676352G>A	uc002rku.3	-	34	3901	c.3850C>T	c.(3850-3852)Cga>Tga	p.R1284*	IFT172_uc010ezb.3_Non-coding_Transcript	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	1284					cilium assembly	cilium	binding	p.R1284Q(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCCCAGTGTCGAGCTTGTTCC	0.582000														13			12		0	0	0.000978159	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846101	47846101	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:47846101C>T	uc011dwm.2	-	2	2513	c.2479G>A	c.(2479-2481)Gag>Aag	p.E827K	PTCHD4_uc011dwn.2_Missense_Mutation_p.E574K	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	Homo sapiens chromosome 6 open reading frame 138 (C6orf138), transcript variant 1, mRNA.	827						integral to membrane	hedgehog receptor activity										TCCTCTCTCTCCTTTCGCTTG	0.413000														83			9		0	0	0.000978159	0	0
PRDM9	56979	broad.mit.edu	37	5	23526565	23526565	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:23526565C>T	uc003jgo.3	+	10	1550	c.1368C>T	c.(1366-1368)atC>atT	p.I456I		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	456					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.E455D(2)|p.E455G(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GTCAAGAGATCAAAGAAAGGT	0.483000										HNSCC(3;0.000094)				10			12		0	0	0.000978159	0	0
FPR3	2359	broad.mit.edu	37	19	52327484	52327484	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:52327484C>T	uc002pxt.1	+	1	667	c.483C>T	c.(481-483)ttC>ttT	p.F161F	FPR3_uc021uyq.1_Silent_p.F161F	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	161					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.F161F(2)		NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TACCAAATTTCATCTTCTGGA	0.473000														35			11		0	0	0.000978159	0	0
TPR	7175	broad.mit.edu	37	1	186286631	186286631	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:186286631G>A	uc001grv.3	-	48	7220	c.6923C>T	c.(6922-6924)cCt>cTt	p.P2308L	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	2308					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGAGCTAGAAGGAGGATCCTG	0.433000			T	NTRK1	papillary thyroid									59			12		0	0	0.00244969	0	0
GIMAP2	26157	broad.mit.edu	37	7	150389490	150389490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:150389490G>A	uc003who.3	+	2	204	c.116G>A	c.(115-117)gGg>gAg	p.G39E		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	39						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTGCTGCAGGGAACAGCATC	0.512000														25			4		0	0	0.00024832	0	0
SLC24A3	57419	broad.mit.edu	37	20	19665909	19665909	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:19665909G>A	uc002wrl.3	+	11	1425	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	410						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGCTGGCAACGAAACAgagaa	0.537000														30			7		0	0	0.00198382	0	0
OR52J3	119679	broad.mit.edu	37	11	5068032	5068032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5068032G>A	uc010qyv.2	+	0	277	c.277G>A	c.(277-279)Gag>Aag	p.E93K		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E93K(2)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGATGCTCACGAGATTAACTA	0.488000														16			11		0	0	0.00136819	0	0
ZNF536	9745	broad.mit.edu	37	19	31040258	31040258	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:31040258C>T	uc002nsu.1	+	3	3870	c.3732C>T	c.(3730-3732)ccC>ccT	p.P1244P	ZNF536_uc010edd.1_Silent_p.P1244P	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCAGGACCCCTTGGCGGGCC	0.642000														19			4		0	0	0.00024832	0	0
TBC1D9	23158	broad.mit.edu	37	4	141592033	141592033	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:141592033G>A	uc010ioj.3	-	6	1379	c.1107C>T	c.(1105-1107)ccC>ccT	p.P369P		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	369						intracellular	Rab GTPase activator activity|calcium ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGATGGATAAGGGACTGGGGA	0.443000														48			52		0	0	0.000781405	0	0
ZNF702P	79986	broad.mit.edu	37	19	53473687	53473687	+	RNA	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:53473687G>A	uc002qan.4	-	3		c.814C>T								Homo sapiens zinc finger protein 702, pseudogene (ZNF702P), non-coding RNA.																		ATGGGTTTTAGGAATACAAGA	0.363000														23			7		0	0	0.00198382	0	0
BANK1	55024	broad.mit.edu	37	4	102946525	102946525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:102946525G>A	uc003hvy.4	+	8	1727	c.1453G>A	c.(1453-1455)Gat>Aat	p.D485N	BANK1_uc003hvx.4_Missense_Mutation_p.D470N|BANK1_uc010ill.3_Missense_Mutation_p.D352N|BANK1_uc003hvz.4_Missense_Mutation_p.D455N	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	485					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		AGACCAGTATGATGACTTGTA	0.502000														14			11		0	0	0.00136819	0	0
DDX27	55661	broad.mit.edu	37	20	47846794	47846794	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:47846794C>G	uc002xuh.3	+	8	1093	c.1032C>G	c.(1030-1032)atC>atG	p.I344M		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	344	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			ACATCCTCATCGCCACCCCAG	0.622000														35			6		0	0	0.000157383	0	0
ZCCHC2	54877	broad.mit.edu	37	18	60237405	60237405	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:60237405C>T	uc002lip.4	+	11	1916	c.1916C>T	c.(1915-1917)cCa>cTa	p.P639L	ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Missense_Mutation_p.P109L	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.	639					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TACAGTTCTCCATCTAGTCCC	0.398000														12			23		0	0	0.000586117	0	0
MAGI2	9863	broad.mit.edu	37	7	77885265	77885265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:77885265C>T	uc003ugx.3	-	9	2296	c.2042G>A	c.(2041-2043)cGa>cAa	p.R681Q	MAGI2_uc003ugy.3_Missense_Mutation_p.R681Q|MAGI2_uc010ldx.1_Missense_Mutation_p.R290Q|MAGI2_uc010ldy.1_Missense_Mutation_p.R290Q|MAGI2_uc011kgr.1_Missense_Mutation_p.R513Q|MAGI2_uc011kgs.1_Missense_Mutation_p.R518Q	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	681	PDZ 3.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTTACCTCCTCGATGGATAAT	0.368000														29			7		0	0	0.000274275	0	0
UPF2	26019	broad.mit.edu	37	10	12077174	12077174	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:12077174C>T	uc001ila.3	-	0	723	c.249G>A	c.(247-249)gaG>gaA	p.E83E	UPF2_uc001ilb.3_Silent_p.E83E|UPF2_uc001ilc.3_Silent_p.E83E|UPF2_uc009xiz.2_Silent_p.E83E	NM_080599	NP_542166	Q9HAU5	RENT2_HUMAN	Homo sapiens UPF2 regulator of nonsense transcripts homolog (yeast) (UPF2), transcript variant 1, mRNA.	83	Glu/Lys-rich.				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)				ttgattcttcctCTGCCTTCA	0.408000														340			66		0	0	0.000781405	0	0
WASF3	10810	broad.mit.edu	37	13	27241696	27241696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:27241696C>T	uc001uqv.3	+	4	536	c.311C>T	c.(310-312)tCc>tTc	p.S104F	WASF3_uc001uqw.3_Missense_Mutation_p.S104F	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	104					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TTCAAAAGTTCCACAGTCCAA	0.373000														56			15		0	0	0.000422831	0	0
ANO4	121601	broad.mit.edu	37	12	101477564	101477564	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:101477564C>T	uc010svm.1	+	15	2076	c.1504C>T	c.(1504-1506)Ctt>Ttt	p.L502F	ANO4_uc001thw.2_Missense_Mutation_p.L467F|ANO4_uc001thx.2_Missense_Mutation_p.L502F|ANO4_uc001thy.2_Intron	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	502						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ATGCAGCAGACTTATCGTTTC	0.323000										HNSCC(74;0.22)				37			8		0	0	0.000673444	0	0
C12orf63	374467	broad.mit.edu	37	12	97137619	97137619	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:97137619G>A	uc021rcc.1	+	20	2841	c.2763G>A	c.(2761-2763)aaG>aaA	p.K921K				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	921										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGAAATTCAAGGAATCTCCCT	0.398000														29			10		0	0	0.000442599	0	0
OR9K2	441639	broad.mit.edu	37	12	55523961	55523961	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:55523961G>A	uc010spe.2	+	0	409	c.409G>A	c.(409-411)Gga>Aga	p.G137R		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						TGTGACTGAGGGATTTCTCCT	0.498000														42			10		0	0	0.000442599	0	0
TCOF1	6949	broad.mit.edu	37	5	149755694	149755694	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:149755694C>T	uc003lry.3	+	12	2051	c.1943C>T	c.(1942-1944)aCc>aTc	p.T648I	TCOF1_uc003lrw.3_Missense_Mutation_p.T648I|TCOF1_uc003lrz.3_Missense_Mutation_p.T648I|TCOF1_uc011dch.2_Missense_Mutation_p.T648I|TCOF1_uc003lrx.3_Missense_Mutation_p.T571I|TCOF1_uc003lsa.3_Missense_Mutation_p.T571I|TCOF1_uc011dci.1_Missense_Mutation_p.T137I	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	648					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAAAGAAAACCAATACCACT	0.572000														77			25		0	0	0.00106085	0	0
ESYT3	83850	broad.mit.edu	37	3	138193065	138193065	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:138193065A>G	uc003esk.3	+	19	2565	c.2339A>G	c.(2338-2340)aAc>aGc	p.N780S		NM_031913	NP_114119	A0FGR9	ESYT3_HUMAN	Homo sapiens extended synaptotagmin-like protein 3 (ESYT3), mRNA.	780	C2 3.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CAAATCAGAAACCTAACACCA	0.433000														151			37		0	0	0.000692331	0	0
F5	2153	broad.mit.edu	37	1	169511128	169511128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:169511128G>A	uc001ggg.1	-	12	3345	c.3200C>T	c.(3199-3201)tCg>tTg	p.S1067L		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1067	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AAGCACCAACGAATGCTTAAG	0.438000														109			18		0	0	0.00152264	0	0
ODZ4	26011	broad.mit.edu	37	11	78423526	78423526	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:78423526C>T	uc001ozl.4	-	26	4517	c.4054_splice	c.e26+1	p.G1352_splice		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1352					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						CAAGGCCTTACCCCTGGGATT	0.463000														34			11		0	0	0.000673444	0	0
CCNDBP1	23582	broad.mit.edu	37	15	43483740	43483740	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:43483740C>T	uc001zqv.3	+	7	958	c.727C>T	c.(727-729)Cca>Tca	p.P243S	CCNDBP1_uc021sjs.1_Missense_Mutation_p.P115S|CCNDBP1_uc010udl.2_Missense_Mutation_p.P82S|CCNDBP1_uc021sjt.1_Missense_Mutation_p.P82S|CCNDBP1_uc021sju.1_Non-coding_Transcript|CCNDBP1_uc010bdb.3_Missense_Mutation_p.P115S|CCNDBP1_uc001zqy.3_Missense_Mutation_p.P115S	NM_012142	NP_036274	O95273	CCDB1_HUMAN	Homo sapiens cyclin D-type binding-protein 1 (CCNDBP1), transcript variant 1, mRNA.	243	Interaction with RPLP0.|Interaction with TCF3.				cell cycle	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		GCTCATAATCCCATGCCTTGC	0.493000														19			19		0	0	0.00152264	0	0
DOCK6	57572	broad.mit.edu	37	19	11348916	11348916	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:11348916G>A	uc002mqs.4	-	14	1749	c.1708C>T	c.(1708-1710)Ctt>Ttt	p.L570F	DOCK6_uc010xlq.2_5'Flank|C19orf80_uc021upf.1_Non-coding_Transcript|C19orf80_uc010dxw.3_Intron|C19orf80_uc021upg.1_5'Flank	NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	570	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CGCACAGCAAGGTTGCGCACG	0.667000														17			6		0	0	0.00116845	0	0
CSMD1	64478	broad.mit.edu	37	8	3611545	3611545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:3611545G>A	uc022aqr.1	-	5	1228	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	280	CUB 2.					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)		ACTGGAGAGGGGAGGTTCATG	0.453000														38			8		0	0	0.000157383	0	0
PHRF1	57661	broad.mit.edu	37	11	607121	607121	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:607121C>T	uc001lqe.3	+	13	1796	c.1665C>T	c.(1663-1665)ttC>ttT	p.F555F	PHRF1_uc010qwc.2_Silent_p.F554F|PHRF1_uc010qwd.2_Silent_p.F553F|PHRF1_uc010qwe.2_Silent_p.F551F|PHRF1_uc009ybz.1_Silent_p.F345F|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	555							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						AAGAAGGATTCAAGGGCTGCC	0.562000														21			8		0	0	0.000274275	0	0
ABCA12	26154	broad.mit.edu	37	2	215882755	215882755	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:215882755G>A	uc002vew.3	-	13	1979	c.1759C>T	c.(1759-1761)Ccc>Tcc	p.P587S	ABCA12_uc002vev.3_Missense_Mutation_p.P269S|ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	587					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			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)		tcagggatgggaatggccagc	0.383000														21			21		0	0	0.00229938	0	0
PAK7	57144	broad.mit.edu	37	20	9525085	9525085	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:9525085C>T	uc002wnl.2	-	8	2345	c.1800G>A	c.(1798-1800)agG>agA	p.R600R	PAK7_uc002wnk.2_Silent_p.R600R|PAK7_uc002wnj.2_Silent_p.R600R|PAK7_uc010gby.1_Intron	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	600	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCAATGATTTCCTCTTCGGCA	0.453000														44			24		0	0	0.00229938	0	0
STAT4	6775	broad.mit.edu	37	2	191919251	191919251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:191919251C>T	uc002usm.2	-	13	1531	c.1216G>A	c.(1216-1218)Gaa>Aaa	p.E406K	STAT4_uc002usn.2_Missense_Mutation_p.E406K|STAT4_uc010zgk.1_Missense_Mutation_p.E251K|STAT4_uc002uso.2_Missense_Mutation_p.E406K	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	406					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			GACTTCATTTCCTTTGGTTGC	0.338000														181			47		0	0	0.000781405	0	0
SOGA3	387104	broad.mit.edu	37	6	127796835	127796835	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:127796835C>T	uc003qbd.3	-	5	3201	c.2336G>A	c.(2335-2337)gGc>gAc	p.G779D	KIAA0408_uc003qbc.3_5'UTR	NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	779						integral to membrane											GTCGCTCTCGCCGCCGATGGG	0.726000														10			6		0	0	0.00116845	0	0
FAH	2184	broad.mit.edu	37	15	80452764	80452764	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:80452764C>T	uc002bfm.2	+	3	491	c.327C>T	c.(325-327)tcC>tcT	p.S109S	FAH_uc002bfn.2_Silent_p.S39S|FAH_uc010unl.2_Silent_p.S109S	NM_000137	NP_000128	P16930	FAAA_HUMAN	Homo sapiens fumarylacetoacetate hydrolase (fumarylacetoacetase) (FAH), mRNA.	109					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CATTCATCTCCCAGGCTTCTG	0.572000									Tyrosinemia, type 1					54			6		0	0	0.000157383	0	0
ALPK2	115701	broad.mit.edu	37	18	56205126	56205126	+	Missense_Mutation	SNP	G	A	A	rs115584025	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:56205126G>A	uc002lhj.4	-	4	2507	c.2293C>T	c.(2293-2295)Cgt>Tgt	p.R765C	ALPK2_uc002lhk.1_Missense_Mutation_p.R96C	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	765							ATP binding|protein serine/threonine kinase activity	p.R765S(1)|p.R131S(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AAGTCAGCACGAGCATCCTTG	0.517000														13			42		0	0	0.00222228	0	0
GCOM1	145781	broad.mit.edu	37	15	57910298	57910298	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:57910298G>A	uc002aei.3	+	2	361	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	GCOM1_uc002aej.3_Missense_Mutation_p.R77Q|GCOM1_uc002aek.3_Non-coding_Transcript|GCOM1_uc002ael.3_Non-coding_Transcript|GCOM1_uc002aem.3_Missense_Mutation_p.R77Q|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aeo.3_Missense_Mutation_p.R77Q	NM_001018100	NP_001018110	P0CAP1	GCOM1_HUMAN	Homo sapiens myocardial zonula adherens protein (MYZAP), transcript variant 1, mRNA.	77					intracellular signal transduction	I band|extrinsic to internal side of plasma membrane				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GGTGTGGTGCGAAGATCAGAT	0.408000														23			9		0	0	0.000673444	0	0
ZSWIM4	65249	broad.mit.edu	37	19	13915869	13915869	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:13915869C>T	uc002mxh.1	+	2	808	c.619C>T	c.(619-621)Ctc>Ttc	p.L207F	ZSWIM4_uc010xng.1_Missense_Mutation_p.L13F	NM_023072	NP_075560	Q9H7M6	ZSWM4_HUMAN	Homo sapiens zinc finger, SWIM-type containing 4 (ZSWIM4), mRNA.	207							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CGTGCAGTACCTCATCAGCGC	0.612000											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		19			5		0	0	0.000602214	0	0
FRMD3	257019	broad.mit.edu	37	9	85913696	85913696	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:85913696G>A	uc004ams.2	-	11	1239	c.1037C>T	c.(1036-1038)tCc>tTc	p.S346F	FRMD3_uc004amr.1_Missense_Mutation_p.S346F|FRMD3_uc022bja.1_Missense_Mutation_p.S302F|FRMD3_uc022biz.1_Missense_Mutation_p.S152F	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	346						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CTGGATCTTGGAACTGGCCTC	0.493000														22			12		0	0	0.000422831	0	0
SCN3A	6328	broad.mit.edu	37	2	166012313	166012313	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:166012313G>A	uc002ucx.3	-	9	1624	c.1132C>T	c.(1132-1134)Cga>Tga	p.R378*	SCN3A_uc002ucy.3_Nonsense_Mutation_p.R378*|SCN3A_uc002ucz.3_Nonsense_Mutation_p.R378*|SCN3A_uc002uda.1_Nonsense_Mutation_p.R247*|SCN3A_uc002udb.1_Nonsense_Mutation_p.R247*	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	378						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R378Q(2)|p.R378*(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTCATGAGTCGAAATAGAGAC	0.413000														72			15		0	0	0.000422831	0	0
TAS2R16	50833	broad.mit.edu	37	7	122634905	122634905	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:122634905C>T	uc003vkl.1	-	0	850	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	262					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	p.E262E(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACAAAAGCTTCCCAGACCCAT	0.403000														77			16		0	0	0.00188189	0	0
TMEM225	338661	broad.mit.edu	37	11	123753896	123753896	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:123753896C>T	uc001pzi.3	-	3	835	c.627G>A	c.(625-627)gtG>gtA	p.V209V		NM_001013743	NP_001013765	Q6GV28	TM225_HUMAN	Homo sapiens transmembrane protein 225 (TMEM225), mRNA.	209						integral to membrane		p.T208I(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TTAGGGAATTCACAGTGTGTG	0.398000														9			25		0	0	0.001512	0	0
GPR56	9289	broad.mit.edu	37	16	57685217	57685217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:57685217C>T	uc002emb.2	+	3	462	c.170C>T	c.(169-171)tCc>tTc	p.S57F	GPR56_uc002elz.1_Intron|GPR56_uc002ema.1_5'UTR|GPR56_uc002emc.2_Missense_Mutation_p.S57F|GPR56_uc002emf.2_Missense_Mutation_p.S57F|GPR56_uc010vhs.1_Missense_Mutation_p.S57F|GPR56_uc002emd.2_Missense_Mutation_p.S57F|GPR56_uc002eme.2_Missense_Mutation_p.S57F|GPR56_uc010vht.1_Missense_Mutation_p.S62F|GPR56_uc002emg.3_Missense_Mutation_p.S57F|GPR56_uc010vhu.1_5'UTR	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	Homo sapiens G protein-coupled receptor 56 (GPR56), transcript variant 1, mRNA.	57					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						CTGCGCATCTCCATCGAGAAC	0.622000														37			9		0	0	0.000442599	0	0
CDH18	1016	broad.mit.edu	37	5	19473750	19473750	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:19473750T>A	uc003jgd.3	-	12	2492	c.1958A>T	c.(1957-1959)gAg>gTg	p.E653V	CDH18_uc011cnm.2_3'UTR|CDH18_uc003jgc.3_Missense_Mutation_p.E653V|CDH18_uc021xwu.1_3'UTR	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	653					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GACCACGTTCTCCCGTACATC	0.483000														123			24		0	0	0.000586117	0	0
ZP2	7783	broad.mit.edu	37	16	21215354	21215354	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:21215354C>T	uc010bwn.1	-	8	1168	c.1086G>A	c.(1084-1086)acG>acA	p.T362T	ZP2_uc002dii.2_Silent_p.T323T|ZP2_uc010bwo.3_Silent_p.T362T	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	323					binding of sperm to zona pellucida|intracellular protein transport	Golgi apparatus|endoplasmic reticulum|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AACATACTTTCGTTTTGAGCA	0.433000														36			12		0	0	0.00244969	0	0
MPDZ	8777	broad.mit.edu	37	9	13168523	13168523	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:13168523G>A	uc010mia.1	-	20	3153	c.3096C>T	c.(3094-3096)atC>atT	p.I1032I	MPDZ_uc003zkz.4_5'UTR|MPDZ_uc010mhz.3_Silent_p.I1032I|MPDZ_uc011lmn.2_Silent_p.I1032I|MPDZ_uc010mhy.3_Silent_p.I1032I|MPDZ_uc003zlb.4_Silent_p.I1032I	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1032	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TGCTTCGAACGATCATCCCCA	0.373000														73			21		0	0	0.00127121	0	0
OPRK1	4986	broad.mit.edu	37	8	54147445	54147445	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:54147445G>A	uc003xrh.1	-	1	859	c.484C>T	c.(484-486)Cac>Tac	p.H162Y	OPRK1_uc022aup.1_Missense_Mutation_p.H42Y|OPRK1_uc003xri.1_Missense_Mutation_p.H162Y|OPRK1_uc010lyc.1_Missense_Mutation_p.H73Y	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	162					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	TTCACGGGGTGGCACACGGCA	0.483000														24			4		0	0	0.00024832	0	0
OMA1	115209	broad.mit.edu	37	1	59002385	59002385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:59002385G>A	uc001cyy.3	-	2	617	c.529C>T	c.(529-531)Cct>Tct	p.P177S	DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Missense_Mutation_p.P177S|OMA1_uc009vzz.3_Missense_Mutation_p.P177S	NM_145243	NP_660286	Q96E52	OMA1_HUMAN	Homo sapiens OMA1 zinc metallopeptidase homolog (S. cerevisiae) (OMA1), mRNA.	177					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TTGTTAGGAGGAAGTGCCTGC	0.353000														87			16		0	0	0.000958276	0	0
SYT1	6857	broad.mit.edu	37	12	79747310	79747310	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:79747310C>T	uc001sys.3	+	9	1510	c.839C>T	c.(838-840)tCc>tTc	p.S280F	SYT1_uc001syt.3_Missense_Mutation_p.S280F|SYT1_uc001syu.3_Missense_Mutation_p.S277F|SYT1_uc001syv.3_Missense_Mutation_p.S280F	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	280	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						ATCTGCTTCTCCCTTCGCTAC	0.388000														72			16		0	0	0.000958276	0	0
METTL14	57721	broad.mit.edu	37	4	119626904	119626904	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:119626904C>T	uc003icf.3	+	9	1110	c.994C>T	c.(994-996)Cat>Tat	p.H332Y		NM_020961	NP_066012	Q9HCE5	MTL14_HUMAN	Homo sapiens methyltransferase like 14 (METTL14), mRNA.	332						nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						AGAAATTTTTCATATAATTGA	0.353000														34			31		0	0	0.000814825	0	0
COL12A1	1303	broad.mit.edu	37	6	75904613	75904613	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:75904613G>A	uc021zbv.1	-	1	159	c.124C>T	c.(124-126)Cat>Tat	p.H42Y	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.H42Y|COL12A1_uc003pht.3_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	42	Fibronectin type-III 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CATGACATATGAACAGTATTT	0.368000														39			14		0	0	0.000566183	0	0
USP29	57663	broad.mit.edu	37	19	57642776	57642776	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:57642776G>A	uc002qny.3	+	3	3089	c.2733G>A	c.(2731-2733)ggG>ggA	p.G911G	USP29_uc021vci.1_Silent_p.G911G	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	911					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCCCTCAGGGGGAATACGAAG	0.468000														77			5		0	0	0.00198382	0	0
EYS	346007	broad.mit.edu	37	6	66200553	66200553	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:66200553A>T	uc011dxu.1	-	4	1334	c.796T>A	c.(796-798)Ttc>Atc	p.F266I	EYS_uc003peq.3_Missense_Mutation_p.F266I|EYS_uc003per.1_Missense_Mutation_p.F266I|EYS_uc021zbn.1_Missense_Mutation_p.F266I|EYS_uc010kaj.1_Non-coding_Transcript	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	266	EGF-like 3.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTTCCATGGAAACAGACATGT	0.299000														42			21		0	0	0.000878237	0	0
PCLO	27445	broad.mit.edu	37	7	82585683	82585683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:82585683C>T	uc003uhx.2	-	4	4875	c.4586G>A	c.(4585-4587)cGa>cAa	p.R1529Q	PCLO_uc003uhv.2_Missense_Mutation_p.R1529Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1460					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R1460L(1)|p.R1529L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTAGTTCTTCGTTTTCTTTG	0.398000														82			12		0	0	0.00136819	0	0
GPR116	221395	broad.mit.edu	37	6	46852000	46852000	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:46852000G>A	uc003oyo.3	-	4	626	c.337C>T	c.(337-339)Cct>Tct	p.P113S	GPR116_uc003oyp.3_Missense_Mutation_p.P113S|GPR116_uc003oyq.3_Missense_Mutation_p.P113S|GPR116_uc003oyr.2_Missense_Mutation_p.P113S	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	113					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTTCCAGCAGGTCTGCAGACT	0.463000														51			14		0	0	0.000308642	0	0
RASAL1	8437	broad.mit.edu	37	12	113543681	113543681	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:113543681G>A	uc001tun.2	-	16	1972	c.1671C>T	c.(1669-1671)gtC>gtT	p.V557V	RASAL1_uc010syp.2_Silent_p.V556V|RASAL1_uc001tul.3_Silent_p.V555V|RASAL1_uc001tum.2_Silent_p.V555V|RASAL1_uc010syq.2_Silent_p.V556V|RASAL1_uc001tuo.4_Silent_p.V556V	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	555					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CCCTGGCTGGGACACCAGCTT	0.627000														49			14		0	0	0.00074312	0	0
GABRB2	2561	broad.mit.edu	37	5	160757911	160757911	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:160757911C>T	uc003lys.1	-	8	1274	c.1056G>A	c.(1054-1056)aaG>aaA	p.K352K	GABRB2_uc011deh.1_Silent_p.K191K|GABRB2_uc003lyr.1_Silent_p.K352K|GABRB2_uc003lyt.1_Silent_p.K352K|GABRB2_uc021yhg.1_Silent_p.K289K	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	352					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCAGGCGCATCTTCTCATTGT	0.488000														104			25		0	0	0.00106085	0	0
WNT2	7472	broad.mit.edu	37	7	116955182	116955182	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:116955182C>T	uc003viz.3	-	2	831	c.531G>A	c.(529-531)agG>agA	p.R177R	WNT2_uc003vja.3_Silent_p.R81R	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	177					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)		cctttcctttcctttcctttG	0.483000														82			16		0	0	0.000308642	0	0
SLC4A10	57282	broad.mit.edu	37	2	162820767	162820767	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:162820767C>T	uc002ubx.4	+	21	3169	c.2985C>T	c.(2983-2985)ggC>ggT	p.G995G	SLC4A10_uc010zcs.2_Silent_p.G976G|SLC4A10_uc002uby.4_Silent_p.G965G	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	995					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTTGCCTTGGCCTTTTGTGGA	0.393000														37			9		0	0	0.000673444	0	0
UTRN	7402	broad.mit.edu	37	6	144812176	144812176	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:144812176C>T	uc003qkt.3	+	30	4467	c.4375C>T	c.(4375-4377)Cac>Tac	p.H1459Y		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	1459	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		AGCAGAACTTCACGTTCTGGA	0.522000														56			15		0	0	0.00244969	0	0
TULP1	7287	broad.mit.edu	37	6	35476999	35476999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:35476999C>T	uc003okv.4	-	7	821	c.809G>A	c.(808-810)gGa>gAa	p.G270E	TULP1_uc003okw.4_Missense_Mutation_p.G217E|TULP1_uc021yyx.1_Missense_Mutation_p.G270E|TULP1_uc021yyy.1_Missense_Mutation_p.G270E	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	270					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TTTGCCTTTTCCTTTGGCTTT	0.602000														268			36		0	0	0.00148497	0	0
TRPM2	7226	broad.mit.edu	37	21	45798946	45798946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:45798946G>A	uc010gpt.1	+	7	1181	c.1081G>A	c.(1081-1083)Gac>Aac	p.D361N	TRPM2_uc002zet.1_Missense_Mutation_p.D361N|TRPM2_uc002zeu.1_Missense_Mutation_p.D361N|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.D361N|TRPM2_uc002zex.1_Missense_Mutation_p.D147N	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	361						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCGCGTGGCCGACGTCATTGC	0.617000														24			8		0	0	0.000157383	0	0
CDYL2	124359	broad.mit.edu	37	16	80646538	80646538	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:80646538G>A	uc002ffs.3	-	4	1308	c.1203C>T	c.(1201-1203)atC>atT	p.I401I		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	401						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CGACGCCCAGGATCTGGGGGA	0.617000														30			12		0	0	0.00185496	0	0
WDR70	55100	broad.mit.edu	37	5	37396570	37396570	+	Silent	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:37396570A>C	uc003jkv.3	+	4	448	c.390A>C	c.(388-390)ccA>ccC	p.P130P	WDR70_uc010iva.1_Silent_p.P130P	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	Homo sapiens WD repeat domain 70 (WDR70), mRNA.	130										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TAGGAAAACCAGTTAATTTTA	0.433000														47			24		0	0	0.000586117	0	0
RBL2	5934	broad.mit.edu	37	16	53485635	53485635	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:53485635G>T	uc002ehi.4	+	4	776	c.658G>T	c.(658-660)Gat>Tat	p.D220Y	RBL2_uc010vgv.1_Missense_Mutation_p.D146Y|RBL2_uc002ehj.3_5'UTR|RBL2_uc010vgw.2_Missense_Mutation_p.D4Y	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	220					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CATGATTAGTGATGATTTGGT	0.333000														286			10		0.00010058	0.000337581	0.00136819	1	0
ANK3	288	broad.mit.edu	37	10	61802491	61802491	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:61802491C>T	uc001jky.3	-	42	13430	c.13092G>A	c.(13090-13092)acG>acA	p.T4364T	ANK3_uc001jkw.3_Silent_p.T988T|ANK3_uc009xpa.3_Silent_p.T987T|ANK3_uc001jkx.3_Silent_p.T1031T|ANK3_uc010qih.2_Silent_p.T1855T|ANK3_uc001jkz.4_Silent_p.T1848T|ANK3_uc001jkv.3_Silent_p.T387T	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	4364					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTCTTTCTTCGTTTTCACCT	0.398000														53			20		0	0	0.00229938	0	0
TRAFD1	10906	broad.mit.edu	37	12	112587634	112587634	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:112587634A>C	uc001ttp.3	+	8	1324	c.1238A>C	c.(1237-1239)gAg>gCg	p.E413A	TRAFD1_uc001tto.3_Missense_Mutation_p.E413A|TRAFD1_uc010syj.1_Non-coding_Transcript	NM_006700	NP_006691	O14545	TRAD1_HUMAN	Homo sapiens TRAF-type zinc finger domain containing 1 (TRAFD1), transcript variant 2, mRNA.	413					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						CAGCCTCAAGAGACCTCACCA	0.552000														26			6		0	0	0.00198382	0	0
ANK2	287	broad.mit.edu	37	4	114262906	114262906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:114262906G>A	uc003ibe.4	+	32	4056	c.3956G>A	c.(3955-3957)aGa>aAa	p.R1319K	ANK2_uc003ibd.4_Missense_Mutation_p.R1310K|ANK2_uc003ibf.4_Missense_Mutation_p.R1319K|ANK2_uc011cgc.2_Missense_Mutation_p.R495K|ANK2_uc003ibg.4_Missense_Mutation_p.R314K|ANK2_uc003ibh.4_5'UTR|ANK2_uc011cgb.1_Missense_Mutation_p.R1334K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1286					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAAGTATACAGAGAAATTATC	0.373000														73			29		0	0	0.00209593	0	0
C11orf9	745	broad.mit.edu	37	11	61541529	61541529	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:61541529C>T	uc001nsc.1	+	7	1302	c.1206C>T	c.(1204-1206)ttC>ttT	p.F402F	C11orf9_uc001nse.1_Silent_p.F393F	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	402					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						AGAACCACTTCCAGGTGACAG	0.612000														22			7		0	0	0.000274275	0	0
LOC649330	649330	broad.mit.edu	37	1	12907990	12907990	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:12907990G>A	uc010obf.2	-	1	379	c.153C>T	c.(151-153)ggC>ggT	p.G51G	LOC649330_uc009vno.2_Silent_p.G51G	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	51							nucleic acid binding|nucleotide binding										CGAAGGCAAAGCCCTTATGAA	0.458000														53			6		0	0	0.00116845	0	0
SYT10	341359	broad.mit.edu	37	12	33535331	33535331	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:33535331C>T	uc001rll.1	-	4	1620	c.1323G>A	c.(1321-1323)gaG>gaA	p.E441E	SYT10_uc009zju.1_Silent_p.E251E	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	441	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.P440A(1)		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)					GGTCCACGTTCTCTGGAGGGA	0.443000														49			13		0	0	0.00185496	0	0
OR11G2	390439	broad.mit.edu	37	14	20665672	20665672	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:20665672G>A	uc010tlb.2	+	0	178	c.178G>A	c.(178-180)Gag>Aag	p.E60K		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R59T(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		TTGCCCCAGGGAGGGGCAGAT	0.527000														10			4		0	0	0.00024832	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830542	7830542	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:7830542C>T	uc010dvt.3	+	3	351	c.233C>T	c.(232-234)tCc>tTc	p.S78F	CLEC4M_uc010xjv.1_Missense_Mutation_p.S50F|CLEC4M_uc002mhy.2_Missense_Mutation_p.S22F|CLEC4M_uc002mih.3_Missense_Mutation_p.S78F|CLEC4M_uc010xjw.2_Missense_Mutation_p.S57F|CLEC4M_uc010dvs.3_Missense_Mutation_p.S77F|CLEC4M_uc010xjx.2_Missense_Mutation_p.S50F|CLEC4M_uc002mhz.3_Missense_Mutation_p.S78F|CLEC4M_uc002mic.3_Missense_Mutation_p.S50F|CLEC4M_uc002mia.3_Missense_Mutation_p.S57F	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	78					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GTCCCCAGCTCCCTAAGTCAG	0.507000														55			14		0	0	0.000566183	0	0
NTNG1	22854	broad.mit.edu	37	1	107691306	107691306	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:107691306G>A	uc001dvh.4	+	1	809	c.91G>A	c.(91-93)Gat>Aat	p.D31N	NTNG1_uc001dvc.4_Missense_Mutation_p.D31N|NTNG1_uc010out.2_Missense_Mutation_p.D31N|NTNG1_uc001dvf.4_Missense_Mutation_p.D31N|NTNG1_uc001dvd.1_Missense_Mutation_p.D31N	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	31					axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GGGACATTATGATTTGTGTAA	0.443000														57			14		0	0	0.00244969	0	0
ZNF483	158399	broad.mit.edu	37	9	114304503	114304503	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:114304503G>A	uc004bff.2	+	5	1512	c.1288G>A	c.(1288-1290)Gag>Aag	p.E430K	ZNF483_uc004bfg.2_Intron	NM_133464	NP_597721	Q8TF39	ZN483_HUMAN	Homo sapiens zinc finger protein 483 (ZNF483), transcript variant 1, mRNA.	430					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AAATAAAGATGAGGGAAATGA	0.388000														30			16		0	0	0.000422831	0	0
OR2B3	442184	broad.mit.edu	37	6	29054169	29054169	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:29054169T>C	uc003nlx.3	-	0	922	c.857A>G	c.(856-858)aAc>aGc	p.N286S		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.									p.L285L(1)		breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						GATGAGGGAGTTCAACATGGA	0.408000														76			9		0	0	0.000274275	0	0
NRCAM	4897	broad.mit.edu	37	7	107818488	107818488	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:107818488G>A	uc022aka.1	-	22	3027	c.2921C>T	c.(2920-2922)cCa>cTa	p.P974L	NRCAM_uc011kmk.2_Missense_Mutation_p.P974L|NRCAM_uc003vfd.3_Missense_Mutation_p.P955L|NRCAM_uc003vfe.3_Missense_Mutation_p.P955L|NRCAM_uc003vfc.3_Missense_Mutation_p.P958L|NRCAM_uc011kmj.2_5'Flank	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	974	Fibronectin type-III 4.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GTGGCTCGGTGGATCCCATTC	0.438000														45			8		0	0	0.000157383	0	0
CFHR5	81494	broad.mit.edu	37	1	196971688	196971688	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:196971688G>A	uc001gts.4	+	7	1352	c.1224G>A	c.(1222-1224)caG>caA	p.Q408Q		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	408	Sushi 7.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TGAATTATCAGGATGGAGAAA	0.368000														25			17		0	0	0.000958276	0	0
TXLNB	167838	broad.mit.edu	37	6	139609972	139609972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:139609972G>A	uc021zfy.1	-	1	230	c.65C>T	c.(64-66)tCa>tTa	p.S22L		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	22						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GGGTAATGATGAACTGTCACC	0.517000														42			10		0	0	0.000673444	0	0
PCSK1	5122	broad.mit.edu	37	5	95757642	95757642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:95757642C>T	uc003kls.2	-	4	801	c.562G>A	c.(562-564)Gat>Aat	p.D188N	PCSK1_uc021ybq.1_Missense_Mutation_p.D141N	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	188	Catalytic.				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)	TCATTAAAATCATAGCTAGCC	0.328000														123			31		0	0	0.00283554	0	0
TTC39B	158219	broad.mit.edu	37	9	15203850	15203850	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:15203850G>A	uc003zlr.2	-	6	767	c.730C>T	c.(730-732)Cta>Tta	p.L244L	TTC39B_uc003zlq.2_Silent_p.L147L|TTC39B_uc011lmp.2_Silent_p.L79L|TTC39B_uc010mie.2_Silent_p.L242L|TTC39B_uc011lmr.2_Silent_p.L175L|TTC39B_uc011lmq.2_Silent_p.L244L|TTC39B_uc010mif.2_Silent_p.L244L|TTC39B_uc003zls.1_Silent_p.L79L|TTC39B_uc010mig.1_Silent_p.L147L|TTC39B_uc011lms.2_Non-coding_Transcript	NM_152574	NP_001161814	Q5VTQ0	TT39B_HUMAN	Homo sapiens tetratricopeptide repeat domain 39B (TTC39B), transcript variant 1, mRNA.	178							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						GCTTTCTGTAGGAGACACTCG	0.393000														34			8		0	0	0.000673444	0	0
LAIR1	3903	broad.mit.edu	37	19	54868146	54868146	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:54868146G>A	uc002qfk.1	-	5	847	c.537C>T	c.(535-537)ctC>ctT	p.L179L	LAIR1_uc002qfl.1_Silent_p.L162L|LAIR1_uc002qfm.1_Silent_p.L178L|LAIR1_uc002qfn.1_Silent_p.L161L|LAIR1_uc010yex.2_Silent_p.L172L|LAIR1_uc002qfo.3_Silent_p.L161L	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	179						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GGACCAGGAGGAGGAGACAGA	0.542000														47			10		0	0	0.000673444	0	0
ABCC8	6833	broad.mit.edu	37	11	17483345	17483345	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:17483345C>T	uc001mnc.3	-	4	733	c.607G>A	c.(607-609)Gag>Aag	p.E203K	ABCC8_uc010rcy.1_Missense_Mutation_p.E203K	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	203					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			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)	GGCTTCACCTCCCTCGGTGTC	0.577000														135			31		0	0	0.00058488	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68236426	68236426	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:68236426G>A	uc001xka.2	-	28	5645	c.5506C>T	c.(5506-5508)Cgc>Tgc	p.R1836C	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.R1836C	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1836					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CCACAGCGGCGACAATGATGA	0.502000														30			9		0	0	0.000442599	0	0
KSR1	8844	broad.mit.edu	37	17	25937142	25937142	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:25937142C>T	uc010crg.3	+	17	2372	c.1927C>T	c.(1927-1929)Cct>Tct	p.P643S	KSR1_uc002gzm.3_Missense_Mutation_p.P423S|KSR1_uc002gzn.3_5'UTR	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	779	Protein kinase.				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CTATCTGGCCCCTGAGATTGT	0.582000											OREG0024262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			12		0	0	0.00136819	0	0
OR52L1	338751	broad.mit.edu	37	11	6008119	6008119	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:6008119C>T	uc001mcd.2	-	0	97	c.42G>A	c.(40-42)ttG>ttA	p.L14L		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGCATTATCAATGGCTTGG	0.453000														39			10		0	0	0.00136819	0	0
GMIP	51291	broad.mit.edu	37	19	19745506	19745506	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:19745506C>T	uc002nnd.3	-	17	2011	c.1894G>A	c.(1894-1896)Gag>Aag	p.E632K	GMIP_uc010xrb.2_Missense_Mutation_p.E606K|GMIP_uc010xrc.2_Missense_Mutation_p.E603K	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	632	Rho-GAP.				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						ATCACGGGCTCGGTGAGCTGG	0.672000														70			13		0	0	0.00244969	0	0
SYNE1	23345	broad.mit.edu	37	6	152651014	152651014	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:152651014A>G	uc021zhb.1	-	75	15029	c.14806T>C	c.(14806-14808)Tcc>Ccc	p.S4936P	SYNE1_uc003qot.4_Missense_Mutation_p.S4865P|SYNE1_uc003qou.4_Missense_Mutation_p.S4936P|SYNE1_uc010kiz.3_Missense_Mutation_p.S691P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4936					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCAAGCTGGACTGGACCTCT	0.488000										HNSCC(10;0.0054)				121			25		0	0	0.00127121	0	0
HTR4	3360	broad.mit.edu	37	5	147863878	147863878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:147863878G>A	uc021yfj.1	-	5	1188	c.1141C>T	c.(1141-1143)Cca>Tca	p.P381S	HTR4_uc021yfg.1_Intron|HTR4_uc021yfh.1_Intron|HTR4_uc010jgu.1_Intron|HTR4_uc021yfi.1_Intron|HTR4_uc011dby.1_Intron|HTR4_uc003lpn.3_Intron|HTR4_uc010jgv.3_Intron	NM_001040173	NP_001035263	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant i, mRNA.	359					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CCTGAGAATGGACCCGCTCTG	0.388000														26			6		0	0	0.00116845	0	0
UGT2B10	7365	broad.mit.edu	37	4	69683876	69683876	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:69683876C>T	uc003hee.3	+	1	873	c.848C>T	c.(847-849)cCt>cTt	p.P283L	UGT2B10_uc011cam.2_Missense_Mutation_p.P199L	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	283					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CACTGCAAACCTGCCAAACCC	0.373000														61			12		0	0	0.00244969	0	0
C22orf28	51493	broad.mit.edu	37	22	32784016	32784016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:32784016G>A	uc003amm.2	-	11	1612	c.1481C>T	c.(1480-1482)gCc>gTc	p.A494V		NM_014306	NP_055121	Q9Y3I0	RTCB_HUMAN	Homo sapiens chromosome 22 open reading frame 28 (C22orf28), mRNA.	494					cell-matrix adhesion|substrate adhesion-dependent cell spreading|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|tRNA-splicing ligase complex	ATP binding|RNA ligase (ATP) activity|metal ion binding|vinculin binding			breast(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	21						CAGTTTAATGGCTTTCTTGCT	0.458000														51			14		0	0	0.000308642	0	0
XIRP2	129446	broad.mit.edu	37	2	168105040	168105040	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:168105040C>T	uc002udx.3	+	8	7227	c.7138C>T	c.(7138-7140)Ctt>Ttt	p.L2380F	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.L2205F|XIRP2_uc010fpq.3_Missense_Mutation_p.L2158F|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2205					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						AGCACATCTCCTTTCCTCCTC	0.463000														34			7		0	0	0.00198382	0	0
OR10R2	343406	broad.mit.edu	37	1	158450377	158450377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158450377C>T	uc010pik.2	+	0	710	c.710C>T	c.(709-711)tCt>tTt	p.S237F	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					ATCTGTGTTTCTTATCTCTGC	0.433000														46			15		0	0	0.00244969	0	0
ABCA8	10351	broad.mit.edu	37	17	66936911	66936911	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:66936911G>A	uc002jhq.3	-	3	629	c.289C>T	c.(289-291)Ccc>Tcc	p.P97S	ABCA8_uc002jhp.3_Missense_Mutation_p.P97S|ABCA8_uc010wqq.2_Missense_Mutation_p.P97S|ABCA8_uc010wqr.2_Missense_Mutation_p.P36S|ABCA8_uc002jhr.3_Missense_Mutation_p.P97S|ABCA8_uc002jhs.3_Missense_Mutation_p.P97S|ABCA8_uc002jht.3_Missense_Mutation_p.P97S	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	97						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GCCAGGAAGGGAGTAGAGGCT	0.373000														39			13		0	0	0.000308642	0	0
GPR174	84636	broad.mit.edu	37	X	78427049	78427049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:78427049C>T	uc004edg.1	+	0	581	c.545C>T	c.(544-546)tCc>tTc	p.S182F		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	182						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CTGGCCCAGTCCGTTGTTATG	0.448000										HNSCC(63;0.18)				16			4		0	0	0.000602214	0	0
CLVS2	134829	broad.mit.edu	37	6	123369870	123369870	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:123369870G>A	uc003pzi.1	+	3	1537	c.668G>A	c.(667-669)cGg>cAg	p.R223Q		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	223	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						GAGAAAACTCGGAAAAGGGTA	0.378000														59			14		0	0	0.000422831	0	0
TTN	7273	broad.mit.edu	37	2	179407867	179407867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179407867C>T	uc021vsy.1	-	295	89354	c.89129G>A	c.(89128-89130)aGg>aAg	p.R29710K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R23405K|TTN_uc021vta.1_Missense_Mutation_p.R23338K|TTN_uc021vtb.1_Missense_Mutation_p.R23213K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30637	Fibronectin type-III 116.						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)			ATTTTGTGCCCTTATTCTAAA	0.408000														75			47		0	0	0.000781405	0	0
FNBP1	23048	broad.mit.edu	37	9	132658145	132658145	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:132658145G>A	uc004byw.1	-	15	2037	c.1818C>T	c.(1816-1818)gtC>gtT	p.V606V	FNBP1_uc011mbv.1_Silent_p.V596V|FNBP1_uc011mbw.1_Silent_p.V601V|FNBP1_uc004bza.2_Silent_p.V540V|FNBP1_uc004byz.1_Silent_p.V577V|FNBP1_uc004byv.1_5'Flank|FNBP1_uc011mbu.1_Silent_p.V234V|FNBP1_uc004byx.1_Silent_p.V522V|FNBP1_uc004byy.1_Silent_p.V512V	NM_015033	NP_055848	Q96RU3	FNBP1_HUMAN	Homo sapiens formin binding protein 1 (FNBP1), mRNA.	606	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and DNM3.|Interaction with DNM2 and WASL.|Interaction with FASLG.|Interaction with PDE6G (By similarity).|Required for interaction with TNKS.|Required for self-association and induction of membrane tubulation.|SH3.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		AACAGACTTCGACATATGAAG	0.383000			T	MLL	AML									14			5		0	0	0.000602214	0	0
ODZ1	10178	broad.mit.edu	37	X	123525979	123525979	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:123525979C>A	uc010nqy.3	-	27	5675	c.5611G>T	c.(5611-5613)Gaa>Taa	p.E1871*	ODZ1_uc011muj.2_Nonsense_Mutation_p.E1870*|ODZ1_uc004euj.3_Nonsense_Mutation_p.E1864*	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1864					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.S1870S(1)		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						TGGTCATATTCCATTTTTTCA	0.378000														25			12		5.16669e-11	1.74401e-10	0.000978159	1	0
USP17L2	377630	broad.mit.edu	37	8	11995102	11995102	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:11995102C>T	uc003wvc.1	-	0	1168	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	390					G2/M transition checkpoint|apoptosis|cell cycle|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						GCTCTTGGTTCCCTGCCTCTT	0.557000														32			13		0	0	0.00074312	0	0
FAT2	2196	broad.mit.edu	37	5	150905352	150905352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:150905352C>T	uc003lue.4	-	16	10496	c.10483G>A	c.(10483-10485)Gaa>Aaa	p.E3495K	FAT2_uc003lud.4_Missense_Mutation_p.E188K	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3495	Cadherin 31.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.Q3494L(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGATACCATTCCTGAGCCCTC	0.567000														24			6		0	0	0.000157383	0	0
COL4A6	1288	broad.mit.edu	37	X	107422581	107422581	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:107422581G>A	uc004enw.4	-	25	2325	c.2222C>T	c.(2221-2223)cCa>cTa	p.P741L	COL4A6_uc004env.4_Missense_Mutation_p.P740L|COL4A6_uc011msn.2_Missense_Mutation_p.P740L|COL4A6_uc010npk.3_Missense_Mutation_p.P740L	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	741	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.P740S(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGGTAAGCCTGGACTGCCAAT	0.537000									Alport syndrome with Diffuse Leiomyomatosis					6			8		0	0	0.000157383	0	0
ANO2	57101	broad.mit.edu	37	12	5708775	5708775	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:5708775C>T	uc001qnm.2	-	20	2180	c.2108G>A	c.(2107-2109)cGa>cAa	p.R703Q		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	708						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						TTTCAGCTTTCGAAATAGTTT	0.423000														29			9		0	0	0.000274275	0	0
PRDM1	639	broad.mit.edu	37	6	106543594	106543594	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:106543594G>A	uc003prd.2	+	2	630	c.396G>A	c.(394-396)agG>agA	p.R132R		NM_001198	NP_001189	O75626	PRDM1_HUMAN	Homo sapiens PR domain containing 1, with ZNF domain (PRDM1), transcript variant 1, mRNA.	132	SET.				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)		ACGCCAACAGGAAATATTTTT	0.408000			"""D, N, Mis, F, S"""		DLBCL									27			9		0	0	0.000673444	0	0
CACNA1G	8913	broad.mit.edu	37	17	48655906	48655906	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:48655906G>A	uc002irk.1	+	8	2654	c.2282G>A	c.(2281-2283)gGc>gAc	p.G761D	CACNA1G_uc002iri.1_Missense_Mutation_p.G761D|CACNA1G_uc002irj.1_Missense_Mutation_p.G761D|CACNA1G_uc002irl.1_Missense_Mutation_p.G761D|CACNA1G_uc002irm.1_Missense_Mutation_p.G761D|CACNA1G_uc002irn.1_Missense_Mutation_p.G761D|CACNA1G_uc002iro.1_Missense_Mutation_p.G761D|CACNA1G_uc002irp.1_Missense_Mutation_p.G761D|CACNA1G_uc002irq.1_Missense_Mutation_p.G761D|CACNA1G_uc002irr.1_Missense_Mutation_p.G761D|CACNA1G_uc002irs.1_Missense_Mutation_p.G761D|CACNA1G_uc002irt.1_Missense_Mutation_p.G761D|CACNA1G_uc002iru.1_Missense_Mutation_p.G761D|CACNA1G_uc002irv.1_Missense_Mutation_p.G761D|CACNA1G_uc002irw.1_Missense_Mutation_p.G761D|CACNA1G_uc002irx.1_Missense_Mutation_p.G674D|CACNA1G_uc002iry.1_Missense_Mutation_p.G674D|CACNA1G_uc002isg.1_Missense_Mutation_p.G674D|CACNA1G_uc002ish.1_Missense_Mutation_p.G674D|CACNA1G_uc002isi.1_Missense_Mutation_p.G674D|CACNA1G_uc002irz.1_Missense_Mutation_p.G674D|CACNA1G_uc002isa.1_Missense_Mutation_p.G674D|CACNA1G_uc002isd.1_Missense_Mutation_p.G674D|CACNA1G_uc002isb.1_Missense_Mutation_p.G674D|CACNA1G_uc002isc.1_Missense_Mutation_p.G674D|CACNA1G_uc002ise.1_Missense_Mutation_p.G674D|CACNA1G_uc002isf.1_Missense_Mutation_p.G674D	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	761					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCAGCATGGGCATCGAATAC	0.582000														35			9		0	0	0.00136819	0	0
TULP1	7287	broad.mit.edu	37	6	35477063	35477063	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:35477063C>T	uc003okv.4	-	7	757	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	TULP1_uc003okw.4_Missense_Mutation_p.E196K|TULP1_uc021yyx.1_Missense_Mutation_p.E249K|TULP1_uc021yyy.1_Missense_Mutation_p.E249K	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	249	Poly-Glu.				dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						TCCTCTTCTTCCTCCTTCCTC	0.557000														330			52		0	0	0.000781405	0	0
PRAMEF6	440561	broad.mit.edu	37	1	13001181	13001181	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:13001181G>A	uc001auq.2	-	2	588	c.502C>T	c.(502-504)Ctt>Ttt	p.L168F	PRAMEF6_uc001aur.2_Intron	NM_001010889	NP_001010889	Q5VXH4	PRAM6_HUMAN	Homo sapiens PRAME family member 6 (PRAMEF6), mRNA.	168										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCATAGAAGGAGGCAGGTG	0.468000														118			9		0	0	0.000958276	0	0
TATDN2	9797	broad.mit.edu	37	3	10291219	10291219	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:10291219C>T	uc011atr.2	+	1	916	c.335C>T	c.(334-336)tCa>tTa	p.S112L	TATDN2_uc003bvg.2_Missense_Mutation_p.S112L|TATDN2_uc003bvf.3_Missense_Mutation_p.S112L|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	112						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						TTCCTGTCTTCAGGGGGATCC	0.602000														39			12		0	0	0.00185496	0	0
CCKAR	886	broad.mit.edu	37	4	26491783	26491783	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:26491783G>A	uc003gse.1	-	0	260	c.107C>T	c.(106-108)tCc>tTc	p.S36F		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	36					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	CTTACCTTTGGAAGGACGGGG	0.438000														24			8		0	0	0.000673444	0	0
PCDHB6	56130	broad.mit.edu	37	5	140531337	140531337	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140531337C>T	uc003lir.3	+	0	1499	c.1499C>T	c.(1498-1500)tCc>tTc	p.S500F		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	500	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCTCTCTTCCCTGGTCTCC	0.652000														43			15		0	0	0.00074312	0	0
NFATC1	4772	broad.mit.edu	37	18	77170516	77170517	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:77170516_77170517CC>TT	uc010xfg.2	+	1	694_695	c.241_242CC>TT	c.(241-243)ccg>TTg	p.P81L	NFATC1_uc002lnc.1_Missense_Mutation_p.P81L|NFATC1_uc010xff.1_Missense_Mutation_p.P81L|NFATC1_uc002lnd.3_Missense_Mutation_p.P81L|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Missense_Mutation_p.P81L|NFATC1_uc010xfi.1_Missense_Mutation_p.P68L|NFATC1_uc010xfj.2_Intron|NFATC1_uc002lnf.3_Missense_Mutation_p.P68L|NFATC1_uc002lng.3_Missense_Mutation_p.P68L|NFATC1_uc010xfk.2_Missense_Mutation_p.P68L	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	81					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.P68L(1)|p.D81D(1)		NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GGGCATCATCCCGCCGGCGGAT	0.718000														31			8		0	0	6.4e-05	0	0
ZNF273	10793	broad.mit.edu	37	7	64388601	64388601	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:64388601T>C	uc003tto.3	+	3	971	c.895T>C	c.(895-897)Ttt>Ctt	p.F299L	ZNF273_uc003ttl.3_Missense_Mutation_p.F234L|ZNF273_uc003ttn.3_Missense_Mutation_p.F234L	NM_021148	NP_066971	Q14593	ZN273_HUMAN	Homo sapiens zinc finger protein 273 (ZNF273), transcript variant 1, mRNA.	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TGGCAAAGTCTTTAGTGTATT	0.328000														58			8		0	0	0.000274275	0	0
GRIN2A	2903	broad.mit.edu	37	16	9892287	9892287	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:9892287A>T	uc010uym.2	-	11	2513	c.2203T>A	c.(2203-2205)Ttg>Atg	p.L735M	GRIN2A_uc002czo.4_Missense_Mutation_p.L735M|GRIN2A_uc010uyn.2_Missense_Mutation_p.L578M|GRIN2A_uc002czr.4_Missense_Mutation_p.L735M	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	735					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGTAATTCAAGACTGCGGCA	0.552000														15			16		0	0	0.000566183	0	0
SUSD2	56241	broad.mit.edu	37	22	24579502	24579502	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:24579502C>T	uc002zzn.1	+	2	371	c.327C>T	c.(325-327)tcC>tcT	p.S109S		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	109					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						ATGTGGACTCCTCCGGGCAAG	0.622000														31			7		0	0	0.000274275	0	0
MYOF	26509	broad.mit.edu	37	10	95116512	95116512	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:95116512G>A	uc001kin.3	-	29	3337	c.3214C>T	c.(3214-3216)Cgc>Tgc	p.R1072C	MYOF_uc001kio.3_Missense_Mutation_p.R1059C|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1072	Poly-Arg.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CGTCTGCGGCGGAAGGTATCT	0.473000														33			15		0	0	0.000308642	0	0
SPTBN4	57731	broad.mit.edu	37	19	41071430	41071430	+	Missense_Mutation	SNP	G	A	A	rs139699793	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:41071430G>A	uc002ony.3	+	27	6103	c.6017G>A	c.(6016-6018)cGa>cAa	p.R2006Q	SPTBN4_uc002onz.3_Missense_Mutation_p.R2006Q|SPTBN4_uc010egx.3_Missense_Mutation_p.R749Q	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	2006					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.R2006P(2)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGCTGGGGCGATCTCTGCTG	0.632000														11			6		0	0	0.000157383	0	0
GON4L	54856	broad.mit.edu	37	1	155723012	155723012	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:155723012C>G	uc001flz.2	-	28	5922	c.5825G>C	c.(5824-5826)gGa>gCa	p.G1942A	GON4L_uc021paz.1_Intron|GON4L_uc009wrg.1_Intron|GON4L_uc001fly.1_Missense_Mutation_p.G1942A|GON4L_uc009wrh.1_Missense_Mutation_p.G1942A|GON4L_uc001fma.1_Missense_Mutation_p.G1942A	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	1942					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGGCATCTCTCCCTTTCTGGT	0.562000														28			5		0	0	0.00116845	0	0
LIPI	149998	broad.mit.edu	37	21	15535790	15535790	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:15535790G>A	uc002yjm.3	-	6	1029	c.1019C>T	c.(1018-1020)cCt>cTt	p.P340L	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.P289L|LIPI_uc021whh.1_Missense_Mutation_p.P319L|LIPI_uc021whi.1_Missense_Mutation_p.P154L|LIPI_uc021whj.1_Missense_Mutation_p.P319L|LIPI_uc021whe.1_Missense_Mutation_p.P284L|LIPI_uc021whf.1_Missense_Mutation_p.P319L	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	319					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GGTCCTAAGAGGTCTTCCTTC	0.299000														57			20		0	0	0.00047179	0	0
TIAM1	7074	broad.mit.edu	37	21	32575283	32575283	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:32575283G>A	uc002yow.1	-	12	2906	c.2434C>T	c.(2434-2436)Cta>Tta	p.L812L	TIAM1_uc011adk.1_Silent_p.L812L|TIAM1_uc011adl.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	812	RBD.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TTTTCTATTAGAAATTTCAGG	0.393000														78			22		0	0	0.000878237	0	0
CD5L	922	broad.mit.edu	37	1	157803006	157803006	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:157803006C>T	uc001frk.4	-	4	1158	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	339	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCCACATCTTCCTGGTGGGTG	0.542000														46			17		0	0	0.000958276	0	0
ATP2C2	9914	broad.mit.edu	37	16	84444324	84444324	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:84444324G>A	uc010chj.3	+	5	557	c.468G>A	c.(466-468)gaG>gaA	p.E156E	ATP2C2_uc002fhx.3_Silent_p.E156E|ATP2C2_uc002fhy.3_Silent_p.E173E|ATP2C2_uc002fhz.3_Intron	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	156					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						ACAGGTCGGAGAAATCTCTGG	0.542000														27			10		0	0	0.000978159	0	0
PARP4	143	broad.mit.edu	37	13	25009128	25009128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:25009128G>A	uc001upl.3	-	30	4257	c.4151C>T	c.(4150-4152)cCc>cTc	p.P1384L		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1384					DNA repair|cell death|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|NAD+ ADP-ribosyltransferase activity|enzyme binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGGTCCTGTGGGACAAGACGC	0.542000														14			6		0	0	0.00116845	0	0
DIMT1	27292	broad.mit.edu	37	5	61689822	61689822	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:61689822C>T	uc003jta.3	-	7	752	c.623G>A	c.(622-624)aGg>aAg	p.R208K	DIMT1_uc011cqq.1_Missense_Mutation_p.R208K	NM_014473	NP_055288	Q9UNQ2	DIMT1_HUMAN	Homo sapiens DIM1 dimethyladenosine transferase 1 homolog (S. cerevisiae) (DIMT1), mRNA.	208						nucleolus	RNA binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity										AGGTTCTATCCTTACAACACT	0.393000														68			20		0	0	0.000586117	0	0
CHURC1-FNTB	100529261	broad.mit.edu	37	14	65390783	65390783	+	Silent	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:65390783T>C	uc010tsl.2	+	1	249	c.195T>C	c.(193-195)ttT>ttC	p.F65F	CHURC1-FNTB_uc010tsk.2_Silent_p.F65F|CHURC1-FNTB_uc010tsj.2_Silent_p.F65F|CHURC1-FNTB_uc010tsm.2_5'UTR|CHURC1-FNTB_uc021rup.1_Silent_p.F65F|CHURC1-FNTB_uc001xhv.2_Silent_p.F38F|CHURC1-FNTB_uc001xhw.2_Silent_p.F65F	NM_001202559	NP_001189488	B4DL54	B4DL54_HUMAN	Homo sapiens CHURC1-FNTB readthrough (CHURC1-FNTB), transcript variant 1, mRNA.	38					multicellular organismal development|positive regulation of transcription, DNA-dependent		transferase activity|zinc ion binding										AGCGGGATTTTATGCTGATCA	0.368000														35			15		0	0	0.000308642	0	0
FCGBP	8857	broad.mit.edu	37	19	40420093	40420093	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:40420093C>T	uc002omp.4	-	5	2909	c.2901G>A	c.(2899-2901)agG>agA	p.R967R		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	967	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGACGGCATCCCTGCCCTGTC	0.602000														17			13		0	0	0.00244969	0	0
METTL2B	55798	broad.mit.edu	37	7	128119262	128119262	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:128119262C>T	uc003vnf.3	+	2	290	c.253C>T	c.(253-255)Cac>Tac	p.H85Y	METTL2B_uc003vng.3_Missense_Mutation_p.H20Y|METTL2B_uc011kop.2_5'UTR	NM_018396	NP_060866	Q6P1Q9	MTL2B_HUMAN	Homo sapiens methyltransferase like 2B (METTL2B), mRNA.	85							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTACAAAATCCACGAAAATGG	0.338000														95			12		0	0	0.000422831	0	0
LY6G6F	259215	broad.mit.edu	37	6	31677893	31677893	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31677893G>A	uc003nwb.1	+	3	737	c.737G>A	c.(736-738)gGa>gAa	p.G246E	ABHD16A_uc011dnz.2_Intron|LY6G6F_uc003nwa.1_Missense_Mutation_p.G246E	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6F (LY6G6F), mRNA.	246						integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						ATGGGCCAGGGAGTTGTCATC	0.622000														278			41		0	0	0.000781405	0	0
DNAH7	56171	broad.mit.edu	37	2	196922841	196922841	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:196922841C>T	uc002utj.4	-	2	117	c.16_splice	c.e2-1	p.D6_splice		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	6	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCGATTTATCCTGTATGAAAA	0.318000														89			20		0	0	0.00229938	0	0
CELSR3	1951	broad.mit.edu	37	3	48697011	48697011	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:48697011G>A	uc003cuf.1	-	2	3267	c.3267C>T	c.(3265-3267)gtC>gtT	p.V1089V	CELSR3_uc003cul.3_Silent_p.V1019V	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1019	Cadherin 8.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTACTGTACGGACAATTCCAG	0.552000														28			9		0	0	0.000274275	0	0
TRAF1	7185	broad.mit.edu	37	9	123667328	123667328	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:123667328G>A	uc004bku.2	-	7	1793	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	TRAF1_uc011lyg.2_Silent_p.F285F|TRAF1_uc010mvl.2_Silent_p.F407F	NM_005658	NP_001177876	Q13077	TRAF1_HUMAN	Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA.	407	MATH.				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						TGCACTTGAGGAACATTGTGT	0.587000														11			6		0	0	0.00198382	0	0
HCAR3	8843	broad.mit.edu	37	12	123201251	123201251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:123201251C>T	uc001ucy.4	-	0	189	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	HCAR1_uc001ucw.1_Intron	NM_006018	NP_006009	P49019	HCAR3_HUMAN	Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA.	12						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Mepenzolate(DB04843)|Niacin(DB00627)	TTGTCTATTTCCAGAAAGTGA	0.527000														101			11		0	0	0.00244969	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21011408	21011408	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:21011408G>A	uc010sil.2	+	2	327	c.262G>A	c.(262-264)Gga>Aga	p.G88R	SLCO1B3_uc001rek.3_Missense_Mutation_p.G88R|SLCO1B3_uc001rel.3_Missense_Mutation_p.G88R|SLCO1B3_uc010sim.2_Missense_Mutation_p.G88R			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	88					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AAGTTACTTTGGATCTAAACT	0.313000														36			9		0	0	0.000274275	0	0
FGG	2266	broad.mit.edu	37	4	155526062	155526062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:155526062C>T	uc003ioj.3	-	8	1427	c.1286G>A	c.(1285-1287)gGg>gAg	p.G429E	FGG_uc003iog.3_Missense_Mutation_p.G429E	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	429	Platelet aggregation and Staphylococcus clumping.				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			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTTGGCTCCCCCCAGGTGGTG	0.453000														34			33		0	0	0.000692331	0	0
TNKS	8658	broad.mit.edu	37	8	9592514	9592514	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:9592514G>C	uc003wss.3	+	15	2458	c.2453G>C	c.(2452-2454)aGa>aCa	p.R818T	TNKS_uc011kww.2_Missense_Mutation_p.R581T|TNKS_uc010lrt.1_Non-coding_Transcript	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	818					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)		TGCCTGGCAAGAGTGCAGAAG	0.532000														38			9		0	0	0.00136819	0	0
CMKLR1	1240	broad.mit.edu	37	12	108686311	108686311	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:108686311G>A	uc009zuw.3	-	2	620	c.429C>T	c.(427-429)ctC>ctT	p.L143L	CMKLR1_uc001tmw.3_Silent_p.L143L|CMKLR1_uc001tmv.3_Silent_p.L141L|CMKLR1_uc009zuv.3_Silent_p.L143L|CMKLR1_uc021rdj.1_Silent_p.L141L	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	143					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						ACCAGACAGGGAGGAGCACAG	0.552000														28			9		0	0	0.000442599	0	0
SLIT1	6585	broad.mit.edu	37	10	98819289	98819289	+	Splice_Site	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:98819289C>G	uc001kmw.2	-	11	1266	c.1014_splice	c.e11-1	p.I338_splice	SLIT1_uc009xvh.1_Missense_Mutation_p.R348T	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	338					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	Roundabout binding|calcium ion binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GCTCAGGTCTCTGCAAGGTGA	0.597000														12			10		0	0	0.000673444	0	0
STXBP2	6813	broad.mit.edu	37	19	7706927	7706927	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:7706927G>A	uc010xjr.2	+	7	664	c.619G>A	c.(619-621)Gag>Aag	p.E207K	STXBP2_uc002mha.4_Missense_Mutation_p.E196K|STXBP2_uc002mhb.4_Missense_Mutation_p.E193K|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_5'Flank	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	196					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						CAGGGGCCCAGAGGACACAGC	0.667000														61			16		0	0	0.00229938	0	0
POLK	51426	broad.mit.edu	37	5	74892785	74892785	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:74892785T>C	uc003kdw.3	+	12	2363	c.2267T>C	c.(2266-2268)gTt>gCt	p.V756A	POLK_uc003kdx.3_Non-coding_Transcript|POLK_uc003kdy.3_Non-coding_Transcript|POLK_uc010izq.3_Missense_Mutation_p.V558A|POLK_uc003kec.3_Missense_Mutation_p.V666A|POLK_uc010izr.3_Non-coding_Transcript|POLK_uc010izs.3_Non-coding_Transcript|POLK_uc003ked.3_Intron|POLK_uc003kee.3_Intron	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	Homo sapiens polymerase (DNA directed) kappa (POLK), mRNA.	756					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		AACGAAGATGTTGGATCATTT	0.378000								DNA polymerases (catalytic subunits)						61			18		0	0	0.00229938	0	0
EPHA6	285220	broad.mit.edu	37	3	96706323	96706323	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:96706323C>T	uc010how.1	+	2	643	c.600C>T	c.(598-600)ttC>ttT	p.F200F	EPHA6_uc003drp.1_Silent_p.F200F	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	105	Ephrin-binding.					integral to plasma membrane	ATP binding|ephrin receptor activity			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						AAATGAAATTCACACTAAGGG	0.393000														23			11		0	0	0.000978159	0	0
STARD13	90627	broad.mit.edu	37	13	33704318	33704318	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:33704318C>T	uc001uuw.3	-	4	622	c.496G>A	c.(496-498)Gga>Aga	p.G166R	STARD13_uc001uuu.3_Missense_Mutation_p.G158R|STARD13_uc001uuv.3_Missense_Mutation_p.G48R|STARD13_uc001uux.3_Missense_Mutation_p.G131R|STARD13_uc010abh.1_Missense_Mutation_p.G151R|STARD13_uc021rhz.1_Missense_Mutation_p.G158R|STARD13_uc021ria.1_Missense_Mutation_p.G48R	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	166					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding	p.R165*(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		TTTCTGTCTCCTCGAGGGAGC	0.562000														12			4		0	0	0.00024832	0	0
RNFT2	84900	broad.mit.edu	37	12	117187937	117187937	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:117187937C>T	uc009zwn.3	+	3	608	c.375C>T	c.(373-375)tcC>tcT	p.S125S	RNFT2_uc001twb.4_Silent_p.S125S|RNFT2_uc001twa.4_Silent_p.S35S	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	Homo sapiens ring finger protein, transmembrane 2 (RNFT2), transcript variant 1, mRNA.	125	His-rich.					integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		GCGGGGGCTCCCTGCTGCAGC	0.761000														2			3		0	0	0.000602214	0	0
IL18	3606	broad.mit.edu	37	11	112014513	112014513	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:112014513C>T	uc001pnb.2	-	5	608	c.388G>A	c.(388-390)Gat>Aat	p.D130N	IL18_uc001pna.2_Missense_Mutation_p.D104N|IL18_uc009yym.2_Missense_Mutation_p.D126N	NM_001562	NP_001553	Q14116	IL18_HUMAN	Homo sapiens interleukin 18 (interferon-gamma-inducing factor) (IL18), transcript variant 1, mRNA.	130					T-helper 1 type immune response|angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of NK T cell proliferation|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|regulation of cell adhesion|sleep|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		CTTTTTGTATCCTTGATGTTA	0.313000														34			9		0	0	0.000673444	0	0
EXOC7	23265	broad.mit.edu	37	17	74084899	74084900	+	Silent	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:74084899_74084900GG>AA	uc002jqs.3	-	9	1400_1401	c.1305_1306CC>TT	c.(1303-1308)atcctg>atTTtg	p.435_436IL>IL	EXOC7_uc010dgv.2_Silent_p.331_332IL>IL|EXOC7_uc010wsv.2_Silent_p.343_344IL>IL|EXOC7_uc010wsw.2_Silent_p.407_408IL>IL|EXOC7_uc002jqq.3_Silent_p.384_385IL>IL|EXOC7_uc010wsx.2_Silent_p.376_377IL>IL|EXOC7_uc002jqr.3_Silent_p.353_354IL>IL	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	435					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			AGGTGTCGCAGGATGGGGAAGA	0.609000														35			11		0	0	6.4e-05	0	0
ATP5C1	509	broad.mit.edu	37	10	7844269	7844269	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:7844269T>G	uc001iju.3	+	6	752	c.674T>G	c.(673-675)gTg>gGg	p.V225G	ATP5C1_uc009xiq.1_Missense_Mutation_p.V225G|ATP5C1_uc010qbc.1_Missense_Mutation_p.V176G|ATP5C1_uc001ijv.3_Missense_Mutation_p.V225G	NM_001001973	NP_001001973	P36542	ATPG_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 (ATP5C1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	225					oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						GATGCTGACGTGCTGCAAAAT	0.403000														50			6		0	0	0.000274275	0	0
CCDC67	159989	broad.mit.edu	37	11	93148263	93148263	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:93148263G>A	uc001pdq.3	+	12	1721	c.1621G>A	c.(1621-1623)Gat>Aat	p.D541N	CCDC67_uc001pdo.1_Missense_Mutation_p.D541N	NM_181645	NP_857596	Q05D60	CCD67_HUMAN	Homo sapiens coiled-coil domain containing 67 (CCDC67), mRNA.	541										endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824)				GGTTAGTGATGATGATGTATT	0.403000														77			18		0	0	0.00121646	0	0
DHRSX	207063	broad.mit.edu	37	X	2209608	2209608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:2209608G>A	uc004cqf.4	-	3	372	c.323C>T	c.(322-324)tCc>tTc	p.S108F		NM_145177	NP_660160	Q8N5I4	DHRSX_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) X-linked (DHRSX), mRNA.	108							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)				CTGCCGGATGGAAGTCATGGA	0.418000														113			41		0	0	0.000781405	0	0
TRIML1	339976	broad.mit.edu	37	4	189068223	189068223	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:189068223C>T	uc003izm.1	+	5	1219	c.1104C>T	c.(1102-1104)ctC>ctT	p.L368L	TRIML1_uc003izn.1_Silent_p.L92L	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	368	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|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)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGGGGAATCTCCCCAAGCCAC	0.527000														36			13		0	0	0.000308642	0	0
GRM5	2915	broad.mit.edu	37	11	88780834	88780834	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:88780834C>T	uc001pcq.3	-	0	407	c.207G>A	c.(205-207)gtG>gtA	p.V69V	GRM5_uc009yvm.3_Silent_p.V69V|GRM5_uc009yvn.2_Silent_p.V69V	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	69					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			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)	GCATGGCCTCCACTCTCTGAA	0.517000														12			6		0	0	0.00116845	0	0
MUC17	140453	broad.mit.edu	37	7	100686365	100686365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:100686365C>T	uc003uxp.1	+	2	11721	c.11668C>T	c.(11668-11670)Cct>Tct	p.P3890S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3890						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AACTAGCTTTCCTGGGGCCAG	0.478000														102			18		0	0	0.000958276	0	0
ZNF665	79788	broad.mit.edu	37	19	53669145	53669145	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:53669145G>A	uc010eqm.1	-	3	698	c.598C>T	c.(598-600)Cat>Tat	p.H200Y		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	135					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)		TCTCCAGTATGAATTCTCTTA	0.393000														126			38		0	0	0.00128727	0	0
ZNF568	374900	broad.mit.edu	37	19	37441016	37441016	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:37441016C>G	uc002ofc.3	+	6	1479	c.961C>G	c.(961-963)Ctc>Gtc	p.L321V	ZNF568_uc010efg.3_Intron|ZNF568_uc010xtn.2_Intron|ZNF568_uc021uts.1_Missense_Mutation_p.L320V|ZNF568_uc002ofd.3_Missense_Mutation_p.L257V|ZNF568_uc010efe.3_Missense_Mutation_p.L257V|ZNF568_uc010eff.2_Intron	NM_198539	NP_001191766	Q3ZCX4	ZN568_HUMAN	Homo sapiens zinc finger protein 568 (ZNF568), transcript variant 1, mRNA.	321					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)			GAAATCAAATCTCATTGAACA	0.398000														18			10		0	0	0.000442599	0	0
BAI3	577	broad.mit.edu	37	6	70070772	70070772	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:70070772G>A	uc010kak.3	+	27	3883	c.3607G>A	c.(3607-3609)Gat>Aat	p.D1203N	BAI3_uc003pev.4_Missense_Mutation_p.D1203N|BAI3_uc011dxx.2_Missense_Mutation_p.D409N	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1203					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCTTCATAAGGATATTGGTCC	0.358000														37			4		0	0	0.000602214	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140885026	140885026	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140885026C>T	uc003lla.2	+	2	2586	c.2586C>T	c.(2584-2586)gcC>gcT	p.A862A	PCDHGC5_uc003lji.2_Silent_p.A849A|PCDHGC5_uc003ljk.2_Silent_p.A850A|PCDHGC5_uc003ljm.2_Silent_p.A850A|PCDHGC5_uc003ljo.2_Silent_p.A845A|PCDHGC5_uc003ljq.2_Silent_p.A849A|PCDHGC5_uc003ljs.2_Silent_p.A849A|PCDHGC5_uc003lju.2_Silent_p.A849A|PCDHGC5_uc003ljw.2_Silent_p.A847A|PCDHGC5_uc003ljy.2_Silent_p.A850A|PCDHGC5_uc003lka.2_Silent_p.A850A|PCDHGC5_uc003lkc.2_Silent_p.A841A|PCDHGC5_uc003lkd.2_Silent_p.A850A|PCDHGC5_uc003lkf.2_Silent_p.A841A|PCDHGC5_uc003lkh.2_Silent_p.A850A|PCDHGC5_uc003lkj.2_Silent_p.A848A|PCDHGC5_uc003lkl.2_Silent_p.A854A|PCDHGC5_uc003lkn.2_Silent_p.A847A|PCDHGC5_uc003lkq.2_Silent_p.A853A|PCDHGC5_uc003lkp.2_Silent_p.A668A|PCDHGC5_uc003lkt.2_Silent_p.A850A|PCDHGC5_uc003lkv.2_Silent_p.A852A|PCDHGC5_uc003lkw.2_Silent_p.A52A|PCDHGC5_uc003lky.2_Silent_p.A856A	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA.	862					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)			TGCTGCAAGCCATGATCTTGG	0.577000														58			12		0	0	0.00244969	0	0
PTGS2	5743	broad.mit.edu	37	1	186648472	186648472	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:186648472C>T	uc001gsb.3	-	1	288	c.151G>A	c.(151-153)Gga>Aga	p.G51R	PTGS2_uc009wyo.3_5'UTR	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	51	EGF-like.				cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)|gamma-Homolinolenic acid(DB00154)	CAGTTTTCTCCATAGAATCCT	0.433000														49			8		0	0	0.000442599	0	0
PLCB1	23236	broad.mit.edu	37	20	8741080	8741080	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:8741080G>A	uc002wnb.3	+	24	2686	c.2683G>A	c.(2683-2685)Gaa>Aaa	p.E895K	PLCB1_uc010zrb.1_Missense_Mutation_p.E794K|PLCB1_uc002wna.3_Missense_Mutation_p.E895K|PLCB1_uc002wnc.1_Missense_Mutation_p.E794K|PLCB1_uc002wnd.1_Missense_Mutation_p.E472K	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	895					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGCCAAAACAGAAGATCTTAT	0.358000														53			10		0	0	0.000673444	0	0
KIF9	64147	broad.mit.edu	37	3	47307352	47307352	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:47307352G>A	uc010hjp.3	-	8	1388	c.784C>T	c.(784-786)Ctg>Ttg	p.L262L	KIF9_uc003cqx.3_Silent_p.L262L|KIF9_uc003cqy.3_Silent_p.L262L|KIF9_uc011bat.1_Non-coding_Transcript|KIF9_uc011bau.1_Non-coding_Transcript	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	262	Kinesin-motor.				blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GCTTCCTTCAGGACTTGGCCC	0.522000														71			18		0	0	0.00229938	0	0
ESRRG	2104	broad.mit.edu	37	1	216850657	216850657	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:216850657C>T	uc001hkw.2	-	1	406	c.233G>A	c.(232-234)gGa>gAa	p.G78E	ESRRG_uc009xdp.1_Missense_Mutation_p.G55E|ESRRG_uc001hky.1_Missense_Mutation_p.G55E|ESRRG_uc001hkz.2_Missense_Mutation_p.G55E|ESRRG_uc010puc.2_Missense_Mutation_p.G55E|ESRRG_uc001hla.2_Missense_Mutation_p.G55E|ESRRG_uc001hlb.2_Missense_Mutation_p.G55E|ESRRG_uc010pud.2_Intron|ESRRG_uc021pja.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.G55E|ESRRG_uc001hld.1_Missense_Mutation_p.G55E|ESRRG_uc001hkx.2_Missense_Mutation_p.G83E|ESRRG_uc009xdo.2_Missense_Mutation_p.G55E|ESRRG_uc001hle.2_Missense_Mutation_p.G55E|ESRRG_uc021piz.1_Missense_Mutation_p.G55E	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	78					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CGAGTCAAGTCCGTTCTGATG	0.562000														23			9		0	0	0.000274275	0	0
SELPLG	6404	broad.mit.edu	37	12	109017651	109017651	+	Missense_Mutation	SNP	G	A	A	rs63748999		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:109017651G>A	uc010sxe.2	-	1	658	c.481C>T	c.(481-483)Cca>Tca	p.P161S	SELPLG_uc001tni.3_Missense_Mutation_p.P145S|SELPLG_uc021rdm.1_Missense_Mutation_p.P135S|SELPLG_uc001tnh.3_Missense_Mutation_p.P135S	NM_001206609	NP_001193538	Q14242	SELPL_HUMAN	Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA.	145	12 X 10 AA tandem repeats.				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GCTGCCAGTGGAGTGGTCTGT	0.617000														39			12		0	0	0.00185496	0	0
RGL1	23179	broad.mit.edu	37	1	183895301	183895301	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:183895301T>C	uc001gqm.3	+	18	2748	c.2287T>C	c.(2287-2289)Ttc>Ctc	p.F763L	RGL1_uc010pog.2_Missense_Mutation_p.F726L|RGL1_uc010poh.2_Missense_Mutation_p.F726L|RGL1_uc001gqo.3_Missense_Mutation_p.F728L|RGL1_uc010poi.2_Missense_Mutation_p.F699L	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	728					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ral guanyl-nucleotide exchange factor activity|protein binding			breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						GAACTTTGACTTCATTTTGCG	0.448000														104			22		0	0	0.00106085	0	0
TAF3	83860	broad.mit.edu	37	10	8007196	8007196	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:8007196C>T	uc010qbd.2	+	2	1723	c.1723C>T	c.(1723-1725)Ccc>Tcc	p.P575S		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	575	Lys-rich.				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						AACAAAGTATCCCTGGAAGGA	0.378000														49			35		0	0	0.0024448	0	0
GFRAL	389400	broad.mit.edu	37	6	55196626	55196626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:55196626G>A	uc003pcm.1	+	1	222	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	46						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GAGAGTAATGGAAGATGCCTG	0.318000														39			7		0	0	0.000442599	0	0
CD22	933	broad.mit.edu	37	19	35832865	35832865	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:35832865T>C	uc010edt.3	+	8	2116	c.2032T>C	c.(2032-2034)Tac>Cac	p.Y678H	CD22_uc010edu.3_Missense_Mutation_p.Y590H|CD22_uc010edv.3_Missense_Mutation_p.Y678H|CD22_uc002nzb.4_Missense_Mutation_p.Y501H|CD22_uc010xst.2_Missense_Mutation_p.Y506H|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	678					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CCTCACCGTCTACTGTAAGGC	0.567000														32			4		0	0	0.000602214	0	0
ERI1	90459	broad.mit.edu	37	8	8877879	8877879	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:8877879T>C	uc003wsk.2	+	5	972	c.712T>C	c.(712-714)Ttc>Ctc	p.F238L		NM_153332	NP_699163	Q8IV48	ERI1_HUMAN	Homo sapiens exoribonuclease 1 (ERI1), mRNA.	238	Exonuclease.				gene silencing by RNA|rRNA 3'-end processing	cytoplasm|histone pre-mRNA 3'end processing complex|nucleolus	3'-5' exonuclease activity|histone pre-mRNA stem-loop binding|metal ion binding|rRNA binding|ribosome binding			NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11					Adenosine monophosphate(DB00131)	TATGAGTAAGTTCTTGAACAT	0.299000														70			21		0	0	0.00188189	0	0
ADAMTS19	171019	broad.mit.edu	37	5	128863523	128863523	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:128863523C>T	uc003kvb.1	+	5	1152	c.1152_splice	c.e5+1	p.P384_splice	ADAMTS19_uc003kvc.1_Splice_Site	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	384	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CATGAAACTCCAGTAAGAAAG	0.318000														56			8		0	0	0.000442599	0	0
TAC1	6863	broad.mit.edu	37	7	97361934	97361934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:97361934C>T	uc003uop.4	+	1	256	c.10C>T	c.(10-12)Ctc>Ttc	p.L4F	TAC1_uc003uoq.4_Missense_Mutation_p.L4F|TAC1_uc003uor.4_Missense_Mutation_p.L4F|TAC1_uc003uos.4_Missense_Mutation_p.L4F	NM_003182	NP_003173	P20366	TKN1_HUMAN	Homo sapiens tachykinin, precursor 1 (TAC1), transcript variant beta, mRNA.	4					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	CATGAAAATCCTCGTGGCCTT	0.438000														187			21		0	0	0.00188189	0	0
KIAA1024	23251	broad.mit.edu	37	15	79748522	79748522	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:79748522G>C	uc002bew.1	+	1	108	c.33G>C	c.(31-33)ttG>ttC	p.L11F	KIAA1024_uc010unk.1_Missense_Mutation_p.L11F	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	11						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CCCTCTTCTTGGTGAAGATCT	0.468000														21			16		0	0	0.000566183	0	0
DDO	8528	broad.mit.edu	37	6	110714134	110714134	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:110714134G>A	uc003puc.3	-	4	958	c.954C>T	c.(952-954)ctC>ctT	p.L318L	METTL24_uc003pub.2_Intron|DDO_uc003pud.3_Silent_p.L259L	NM_003649	NP_003640	Q99489	OXDD_HUMAN	Homo sapiens D-aspartate oxidase (DDO), transcript variant 1, mRNA.	290					aspartate catabolic process	peroxisome	D-amino-acid oxidase activity|D-aspartate oxidase activity|binding	p.E317fs*>53(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		CTCGCGCAAGGAGCTCTGTCT	0.647000														32			10		0	0	0.00136819	0	0
COL8A1	1295	broad.mit.edu	37	3	99513236	99513236	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:99513236G>A	uc003dti.1	+	2	622	c.494G>A	c.(493-495)gGa>gAa	p.G165E	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G164E|COL8A1_uc003dth.1_Missense_Mutation_p.G164E	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	164	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						GGTATGCCTGGAATGCCAGGG	0.562000														14			10		0	0	0.000673444	0	0
BAI3	577	broad.mit.edu	37	6	69758097	69758097	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:69758097C>T	uc010kak.3	+	12	2404	c.2128C>T	c.(2128-2130)Cct>Tct	p.P710S	BAI3_uc003pev.4_Missense_Mutation_p.P710S	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	710					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TCAGAAGCTTCCTGCAGCCTC	0.358000														102			25		0	0	0.000720815	0	0
LPHN2	23266	broad.mit.edu	37	1	82372750	82372750	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:82372750C>T	uc001dit.4	+	3	303	c.122C>T	c.(121-123)tCc>tTc	p.S41F	LPHN2_uc001dis.3_Missense_Mutation_p.S41F|LPHN2_uc001diu.3_Missense_Mutation_p.S41F|LPHN2_uc001div.3_Missense_Mutation_p.S41F|LPHN2_uc009wcd.3_Missense_Mutation_p.S41F	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	41	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CGAGAATTATCCTGTGAAGGT	0.393000														31			12		0	0	0.00136819	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43822244	43822244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:43822244C>T	uc010skx.2	-	25	3745	c.3745G>A	c.(3745-3747)Gaa>Aaa	p.E1249K	ADAMTS20_uc001rno.1_Missense_Mutation_p.E367K|ADAMTS20_uc001rnp.1_Missense_Mutation_p.E403K	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1249	TSP type-1 8.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GGGCGAACTTCAGGATCACAG	0.468000														24			5		0	0	0.00116845	0	0
HDAC9	9734	broad.mit.edu	37	7	18624924	18624924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:18624924C>T	uc003sui.3	+	1	84	c.43C>T	c.(43-45)Cct>Tct	p.P15S	HDAC9_uc003sue.3_Missense_Mutation_p.P15S|HDAC9_uc011jyd.2_Missense_Mutation_p.P15S|HDAC9_uc003suh.3_Missense_Mutation_p.P15S|HDAC9_uc003suj.3_Missense_Mutation_p.P15S|HDAC9_uc011jya.2_Missense_Mutation_p.P57S|HDAC9_uc003sua.1_Missense_Mutation_p.P34S|HDAC9_uc003sud.2_Missense_Mutation_p.P15S|HDAC9_uc011jyc.2_Missense_Mutation_p.P15S|HDAC9_uc011jyb.2_Missense_Mutation_p.P15S|HDAC9_uc003suf.2_Missense_Mutation_p.P43S|HDAC9_uc010kud.2_Missense_Mutation_p.P15S|HDAC9_uc011jye.2_5'UTR|HDAC9_uc011jyf.2_5'UTR	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	15					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GTCAGAAGTTCCTGTGGGCCT	0.478000														69			87		0	0	0.000781405	0	0
HTT	3064	broad.mit.edu	37	4	3136170	3136170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:3136170G>A	uc021xkv.1	+	18	2681	c.2536G>A	c.(2536-2538)Gga>Aga	p.G846R		NM_002111	NP_002102	P42858	HD_HUMAN	Homo sapiens huntingtin (HTT), mRNA.	846					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)		CAGTGAGTTAGGACTGCAGCT	0.517000														83			24		0	0	0.000586117	0	0
RDH13	112724	broad.mit.edu	37	19	55559837	55559837	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:55559837G>A	uc002qio.3	-	4	703	c.518C>T	c.(517-519)tCg>tTg	p.S173L	RDH13_uc002qip.2_Missense_Mutation_p.S102L|RDH13_uc010esr.1_Non-coding_Transcript	NM_001145971	NP_612421	Q8NBN7	RDH13_HUMAN	Homo sapiens retinol dehydrogenase 13 (all-trans/9-cis) (RDH13), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	173							binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	GGCCAGGGACGAGAGGTTGAT	0.522000														56			7		0	0	0.00198382	0	0
MGA	23269	broad.mit.edu	37	15	42028729	42028729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:42028729C>T	uc010ucy.2	+	12	4448	c.4267C>T	c.(4267-4269)Cct>Tct	p.P1423S	MGA_uc010ucz.2_Missense_Mutation_p.P1423S|MGA_uc010uda.1_Intron	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1423						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCCATTGTCCCCTGGGAAAAT	0.463000														6			13		0	0	0.000308642	0	0
SLC8A1	6546	broad.mit.edu	37	2	40656528	40656528	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:40656528G>A	uc002rrx.3	-	0	917	c.893C>T	c.(892-894)tCt>tTt	p.S298F	SLC8A1_uc002rry.3_Missense_Mutation_p.S298F|SLC8A1_uc002rsb.2_Missense_Mutation_p.S298F|SLC8A1_uc002rrz.3_Missense_Mutation_p.S298F|SLC8A1_uc002rsa.3_Missense_Mutation_p.S298F|SLC8A1_uc002rsd.4_Missense_Mutation_p.S298F|SLC8A1_uc010fan.1_Missense_Mutation_p.S298F|SLC8A1_uc002rsc.1_Missense_Mutation_p.S298F	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	298					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTCAACATGAGAATTGACCAC	0.453000														57			8		0	0	0.000157383	0	0
PDGFRA	5156	broad.mit.edu	37	4	55127443	55127443	+	Silent	SNP	C	T	T	rs143939281		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:55127443C>T	uc003han.4	+	2	562	c.231C>T	c.(229-231)aaC>aaT	p.N77N	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_Silent_p.N77N|PDGFRA_uc010igq.1_Intron|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	77	Ig-like C2-type 1.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AAGAAAACAACAGCGGCCTTT	0.498000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				77			24		0	0	0.000878237	0	0
TECPR1	25851	broad.mit.edu	37	7	97863002	97863002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:97863002C>T	uc003upg.3	-	10	1608	c.1403G>A	c.(1402-1404)aGg>aAg	p.R468K	TECPR1_uc003uph.1_Missense_Mutation_p.R398K	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	468						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TCTGGCCTCCCTGCTGCCCTC	0.662000														50			7		0	0	0.000673444	0	0
CPT2	1376	broad.mit.edu	37	1	53679099	53679099	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:53679099C>T	uc001cvb.4	+	4	2324	c.1809C>T	c.(1807-1809)gcC>gcT	p.A603A		NM_000098	NP_000089	P23786	CPT2_HUMAN	Homo sapiens carnitine palmitoyltransferase 2 (CPT2), nuclear gene encoding mitochondrial protein, mRNA.	603					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	GGGGCTTTGCCCCTGTGGTCT	0.562000														45			11		0	0	0.00244969	0	0
MUSK	4593	broad.mit.edu	37	9	113547146	113547146	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:113547146C>A	uc022blv.1	+	11	1570	c.1436C>A	c.(1435-1437)cCt>cAt	p.P479H	MUSK_uc022blt.1_3'UTR|MUSK_uc004bez.2_Missense_Mutation_p.P390H|MUSK_uc022blu.1_Missense_Mutation_p.P380H	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	479					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCAAATCTGCCTTCCTCCTCC	0.398000														50			11		1.36491e-13	4.61756e-13	0.00185496	1	0
LOC440563	440563	broad.mit.edu	37	1	13183468	13183468	+	Silent	SNP	G	A	A	rs149064359	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:13183468G>A	uc010obg.2	-	1	648	c.405C>T	c.(403-405)ccC>ccT	p.P135P		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	135						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										CCAGAGCAATGGGAGGAGGAG	0.507000														120			7		0	0	0.000274275	0	0
C10orf81	79949	broad.mit.edu	37	10	115533988	115533988	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:115533988G>A	uc001lat.2	+	7	1219	c.657G>A	c.(655-657)ttG>ttA	p.L219L	C10orf81_uc009xyc.2_Silent_p.L137L|C10orf81_uc001lar.2_Silent_p.L225L|C10orf81_uc001las.2_Silent_p.L137L|C10orf81_uc001lau.2_Silent_p.L39L	NM_182601	NP_872407	Q5SXH7	CJ081_HUMAN	Homo sapiens chromosome 10 open reading frame 81 (C10orf81), transcript variant 1, mRNA.	219										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)	15		Colorectal(252;0.175)		Epithelial(162;0.0181)|all cancers(201;0.0204)		ATCTGCAGTTGGATAATATCA	0.403000														25			9		0	0	0.000442599	0	0
LRRC7	57554	broad.mit.edu	37	1	70555436	70555436	+	Silent	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:70555436T>G	uc001dep.3	+	22	4395	c.4365T>G	c.(4363-4365)ccT>ccG	p.P1455P	LRRC7_uc009wbg.3_Silent_p.P739P|LRRC7_uc001deq.3_Silent_p.P649P	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1455	PDZ.					centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAAAGAATCCTGGCCTTGGAT	0.294000														68			10		0	0	0.000442599	0	0
GBP2	2634	broad.mit.edu	37	1	89579775	89579775	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:89579775C>T	uc001dmz.1	-	6	1344	c.1073G>A	c.(1072-1074)aGt>aAt	p.S358N	GBP2_uc001dmy.1_Non-coding_Transcript	NM_004120	NP_004111	P32456	GBP2_HUMAN	Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.	358					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CTCTCTCTCACTGTCCCTGTG	0.507000														53			7		0	0	0.000157383	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110460499	110460499	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:110460499C>T	uc003yne.3	+	38	6008	c.5904C>T	c.(5902-5904)atC>atT	p.I1968I		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1968	IPT/TIG 12.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGCAGTGCATCGTGGGAGATC	0.433000										HNSCC(38;0.096)				42			13		0	0	0.00185496	0	0
SEL1L3	23231	broad.mit.edu	37	4	25783937	25783937	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:25783937T>C	uc003gru.4	-	14	2536	c.2384A>G	c.(2383-2385)aAc>aGc	p.N795S	SEL1L3_uc003grv.3_Missense_Mutation_p.N202S	NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	795						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CGCATCTGGGTTCCCCATTTC	0.463000														57			8		0	0	0.000274275	0	0
OR8B8	26493	broad.mit.edu	37	11	124310360	124310360	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:124310360C>T	uc010sal.2	-	0	622	c.622G>A	c.(622-624)Ggt>Agt	p.G208S		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G208G(2)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GTGGGCACACCAATATCAATG	0.488000														54			9		0	0	0.000274275	0	0
CDKN2A	1029	broad.mit.edu	37	9	21971109	21971109	+	Missense_Mutation	SNP	G	C	C	rs34968276		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:21971109G>C	uc003zpk.3	-	1	555	c.249C>G	c.(247-249)caC>caG	p.H83Q	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Missense_Mutation_p.H83Q|CDKN2A_uc003zpl.3_Missense_Mutation_p.R98G	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	83			H -> N (in a lung tumor).|H -> Q (in dbSNP:rs34968276).|H -> Y (in a pancreas and a head and neck tumor).		G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|Ras protein signal transduction|cell cycle arrest|cell cycle checkpoint|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|replicative senescence	cytosol|nucleus	NF-kappaB binding|cyclin-dependent protein kinase inhibitor activity|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83Y(34)|p.H83fs*2(4)|p.D84fs*63(2)|p.V82_G89>G(2)|p.E61_L94del(2)|p.V82fs*62(2)|p.P81_A85del(2)|p.V82_E88del(2)|p.H83Q(2)|p.V82M(2)|p.H83P(2)|p.R80fs*34(1)|p.H83N(1)|p.R139*(1)|p.A68fs*3(1)|p.V82fs*44(1)|p.H83R(1)|p.V82V(1)|p.0(1)|p.V82fs*64(1)|p.D84fs*36(1)|p.R137fs*48(1)|p.V82L(1)|p.D84fs*1(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GGGCAGCGTCGTGCACGGGTC	0.741000		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				28			12		0	0	0.000308642	0	0
HECTD1	25831	broad.mit.edu	37	14	31598272	31598272	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:31598272G>A	uc001wrc.1	-	24	4794	c.4305C>T	c.(4303-4305)gtC>gtT	p.V1435V	HECTD1_uc001wrb.1_5'UTR|HECTD1_uc001wrd.1_Silent_p.V903V	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	1435	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CTGTTTGAGGGACGTTTTCAG	0.443000														69			21		0	0	0.00152264	0	0
OR9A2	135924	broad.mit.edu	37	7	142723401	142723401	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142723401C>T	uc003wcc.1	-	0	819	c.819G>A	c.(817-819)ttG>ttA	p.L273L		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L272M(1)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					ACACAGAAACCAACAGGGAAA	0.458000														75			8		0	0	0.000157383	0	0
GPR158	57512	broad.mit.edu	37	10	25886961	25886961	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:25886961C>T	uc001isj.3	+	10	2466	c.2406C>T	c.(2404-2406)tcC>tcT	p.S802S	GPR158_uc001isk.3_Silent_p.S177S	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	802						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAGGGAAATCCAAGGAGGAGA	0.542000														7			5		0	0	0.000602214	0	0
SAMSN1	64092	broad.mit.edu	37	21	15858346	15858346	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:15858346C>T	uc002yju.1	-	7	1091	c.1009G>A	c.(1009-1011)Gac>Aac	p.D337N	SAMSN1_uc010gky.1_Missense_Mutation_p.D169N|SAMSN1_uc002yjv.1_Missense_Mutation_p.D405N	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	337					negative regulation of B cell activation|negative regulation of adaptive immune response|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CAACCAGAGTCCCTTGGGCAG	0.398000														25			11		0	0	0.000673444	0	0
FLG	2312	broad.mit.edu	37	1	152283490	152283490	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152283490G>A	uc001ezu.1	-	2	3908	c.3872C>T	c.(3871-3873)tCc>tTc	p.S1291F	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1291	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			atggtttctggaagCAGACCC	0.567000									Ichthyosis					62			25		0	0	0.00047179	0	0
MALT1	10892	broad.mit.edu	37	18	56401549	56401549	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:56401549G>A	uc002lhm.1	+	11	1669	c.1411G>A	c.(1411-1413)Gat>Aat	p.D471N	MALT1_uc002lhn.1_Missense_Mutation_p.D460N	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.	471	Caspase-like.				T cell receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|protein oligomerization|proteolysis	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						AAATGACTACGATGATACCAT	0.358000			T	BIRC3	MALT									22			48		0	0	0.000781405	0	0
MAP4K1	11184	broad.mit.edu	37	19	39087756	39087756	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:39087756C>T	uc002oix.1	-	24	1967	c.1859G>A	c.(1858-1860)gGc>gAc	p.G620D	MAP4K1_uc002oiy.1_Missense_Mutation_p.G620D	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	620	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGGAACGGGCCCCCAGAGCT	0.597000														11			4		0	0	0.00024832	0	0
KRTAP4-3	85290	broad.mit.edu	37	17	39324205	39324205	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:39324205A>G	uc010cxl.3	-	0	220	c.220T>C	c.(220-222)Tgc>Cgc	p.C74R		NM_033187	NP_149443	Q9BYR4	KRA43_HUMAN	Homo sapiens keratin associated protein 4-3 (KRTAP4-3), mRNA.	74	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].					keratin filament				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			gaaatgcagcagctggggcgg	0.627000														9			3		0	0	0.000602214	0	0
AGT	183	broad.mit.edu	37	1	230846251	230846251	+	Missense_Mutation	SNP	G	A	A	rs147355405		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:230846251G>A	uc001hty.4	-	1	854	c.346C>T	c.(346-348)Cgt>Tgt	p.R116C	AGT_uc009xff.3_Missense_Mutation_p.R88C	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	116					G-protein signaling, coupled to cGMP nucleotide second messenger|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	CCATATATACGGAAGCCCAAG	0.592000														40			10		0	0	0.000673444	0	0
LOC646813	646813	broad.mit.edu	37	11	50375243	50375243	+	RNA	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:50375243C>T	uc001nhe.2	+	2		c.134C>T			LOC646813_uc001nhf.1_Intron|LOC646813_uc001nhg.1_Non-coding_Transcript|LOC646813_uc001nhh.1_Non-coding_Transcript|LOC646813_uc010rib.1_5'Flank					Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 9 pseudogene (LOC646813), non-coding RNA.																		AGACTGACTTCCTTTTGATAG	0.318000														15			6		0	0	0.00116845	0	0
AP3D1	8943	broad.mit.edu	37	19	2115325	2115325	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:2115325C>G	uc002lva.3	-	19	2465	c.2242G>C	c.(2242-2244)Gag>Cag	p.E748Q	AP3D1_uc002luy.3_Missense_Mutation_p.E657Q|AP3D1_uc002luz.3_Missense_Mutation_p.E748Q	NM_003938	NP_003929	O14617	AP3D1_HUMAN	Homo sapiens adaptor-related protein complex 3, delta 1 subunit (AP3D1), transcript variant 2, mRNA.	748					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	Golgi membrane|endosome membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		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)		ttctccttctccttcctcttt	0.617000														27			11		0	0	0.000978159	0	0
ANO3	63982	broad.mit.edu	37	11	26646015	26646015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:26646015G>A	uc001mqt.4	+	17	1988	c.1843G>A	c.(1843-1845)Gaa>Aaa	p.E615K	ANO3_uc010rdr.2_Missense_Mutation_p.E599K|ANO3_uc010rds.2_Missense_Mutation_p.E454K|ANO3_uc010rdt.2_Missense_Mutation_p.E469K	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	615						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						ACAGGCTTATGAAAAAATTGC	0.318000														77			13		0	0	0.000308642	0	0
BMP2K	55589	broad.mit.edu	37	4	79832642	79832642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:79832642C>T	uc003hlk.3	+	15	3107	c.2941C>T	c.(2941-2943)Cgc>Tgc	p.R981C	PAQR3_uc003hlm.3_Intron|PAQR3_uc003hln.3_Intron|BMP2K_uc010ijm.2_5'UTR	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	981						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						ACTGTCCTCTCGCCAAAGGCG	0.488000														25			8		0	0	0.000274275	0	0
SCAPER	49855	broad.mit.edu	37	15	76646476	76646476	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:76646476G>A	uc002bby.3	-	28	3920	c.3861C>T	c.(3859-3861)atC>atT	p.I1287I	SCAPER_uc010bkr.3_Silent_p.I545I|SCAPER_uc002bbx.3_Silent_p.I1041I	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	1286						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CGGACTGCACGATCACCTGAA	0.582000														56			6		0	0	0.00198382	0	0
KRT19P2	160313	broad.mit.edu	37	12	95228213	95228213	+	RNA	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:95228213G>A	uc001tdk.2	+	0		c.40G>A								Homo sapiens keratin 19 pseudogene 2 (KRT19P2), non-coding RNA.																		AGGACCTGCGGGACAAGATTC	0.532000														21			9		0	0	0.000978159	0	0
SLC5A1	6523	broad.mit.edu	37	22	32445982	32445982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:32445982G>A	uc003amc.3	+	1	438	c.188G>A	c.(187-189)cGa>cAa	p.R63Q		NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	63					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						CTGGCAGGCCGAAGTATGGTG	0.453000														75			60		0	0	0.000781405	0	0
TOP3A	7156	broad.mit.edu	37	17	18186042	18186042	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:18186042T>C	uc002gsx.1	-	15	2220	c.1991A>G	c.(1990-1992)gAc>gGc	p.D664G	TOP3A_uc010cpz.1_Missense_Mutation_p.D116G|TOP3A_uc010vxr.1_Missense_Mutation_p.D194G|TOP3A_uc002gsw.1_Missense_Mutation_p.D116G|TOP3A_uc010vxs.1_Missense_Mutation_p.D562G	NM_004618	NP_004609	Q13472	TOP3A_HUMAN	Homo sapiens topoisomerase (DNA) III alpha (TOP3A), mRNA.	664					DNA topological change|meiosis	PML body|chromosome	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						AAGGACCATGTCCTTGTTGCA	0.577000														37			22		0	0	0.00047179	0	0
COL4A6	1288	broad.mit.edu	37	X	107431774	107431774	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:107431774C>T	uc004enw.4	-	20	1666	c.1563G>A	c.(1561-1563)ggG>ggA	p.G521G	COL4A6_uc004env.4_Silent_p.G520G|COL4A6_uc011msn.2_Silent_p.G520G|COL4A6_uc010npk.3_Silent_p.G520G	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	521	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTGTGCACCCCCAGAGCCTC	0.582000									Alport syndrome with Diffuse Leiomyomatosis					18			6		0	0	0.000274275	0	0
PREX2	80243	broad.mit.edu	37	8	68972989	68972989	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:68972989A>G	uc003xxv.1	+	10	1341	c.1314A>G	c.(1312-1314)ttA>ttG	p.L438L	PREX2_uc003xxu.1_Silent_p.L438L|PREX2_uc011lez.1_Silent_p.L373L	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	438	DEP 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GACAAGCATTATTAGAAAATG	0.353000														89			26		0	0	0.00106085	0	0
MXRA5	25878	broad.mit.edu	37	X	3228008	3228008	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:3228008G>A	uc004crg.4	-	6	8393	c.8236C>T	c.(8236-8238)Cgg>Tgg	p.R2746W		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2746	Ig-like C2-type 12.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTCCCGGGCCGGGTGTAGATG	0.597000														27			8		0	0	0.000274275	0	0
AHNAK	79026	broad.mit.edu	37	11	62285642	62285642	+	Missense_Mutation	SNP	G	A	A	rs116181632	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:62285642G>A	uc001ntl.3	-	4	16547	c.16247C>T	c.(16246-16248)cCg>cTg	p.P5416L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5416					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTCGGACCCCGGAGTAGAGAT	0.537000														38			10		0	0	0.000978159	0	0
PADI3	51702	broad.mit.edu	37	1	17603141	17603141	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:17603141C>T	uc001bai.3	+	11	1475	c.1435C>T	c.(1435-1437)Cct>Tct	p.P479S		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	479					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GAGCTTTGTCCCTGCCCCCGA	0.612000														51			9		0	0	0.00136819	0	0
EXTL3	2137	broad.mit.edu	37	8	28573693	28573693	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:28573693C>T	uc003xgz.1	+	2	710	c.117C>T	c.(115-117)atC>atT	p.I39I		NM_001440	NP_001431	O43909	EXTL3_HUMAN	Homo sapiens exostoses (multiple)-like 3 (EXTL3), mRNA.	39						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCTTTGTCATCCTGGTCTTCT	0.617000														32			9		0	0	0.000978159	0	0
RBM10	8241	broad.mit.edu	37	X	47035920	47035920	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:47035920C>T	uc004dhi.3	+	6	1022	c.793C>T	c.(793-795)Cag>Tag	p.Q265*	RBM10_uc004dhe.2_Missense_Mutation_p.P165L|RBM10_uc004dhf.3_Nonsense_Mutation_p.Q200*|RBM10_uc004dhh.3_Nonsense_Mutation_p.Q200*|RBM10_uc010nhq.3_Nonsense_Mutation_p.Q123*|RBM10_uc004dhg.3_Nonsense_Mutation_p.Q123*	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	200					RNA splicing|mRNA processing	chromatin remodeling complex	RNA binding|nucleotide binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CATCCTGGGCCAGAAGGTGTC	0.572000														19			9		0	0	0.000673444	0	0
APOB	338	broad.mit.edu	37	2	21225802	21225802	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:21225802G>A	uc002red.3	-	28	12620	c.12492C>T	c.(12490-12492)ttC>ttT	p.F4164F		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4164					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)	TGAGTCCCTGGAAACTGGCTT	0.473000														90			88		0	0	0.000781405	0	0
HHIPL2	79802	broad.mit.edu	37	1	222696219	222696219	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:222696219C>T	uc001hnh.1	-	8	1957	c.1899G>A	c.(1897-1899)ttG>ttA	p.L633L		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	633					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TTAGCAAGTCCAAGACTGTCT	0.383000														145			26		0	0	0.00106085	0	0
SLC15A3	51296	broad.mit.edu	37	11	60704703	60704703	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:60704703C>T	uc001nqn.2	-	7	1968	c.1734G>A	c.(1732-1734)agG>agA	p.R578R	SLC15A3_uc001nqo.2_3'UTR	NM_016582	NP_057666	Q8IY34	S15A3_HUMAN	Homo sapiens solute carrier family 15, member 3 (SLC15A3), transcript variant 1, mRNA.	578					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	p.R578S(2)		central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						AGCCCCTGTCCCTGCTGAAAC	0.597000														15			6		0	0	0.00198382	0	0
FAM105A	54491	broad.mit.edu	37	5	14601330	14601330	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:14601330G>A	uc003jfj.3	+	2	346	c.233G>A	c.(232-234)gGa>gAa	p.G78E		NM_019018	NP_061891	Q9NUU6	F105A_HUMAN	Homo sapiens family with sequence similarity 105, member A (FAM105A), mRNA.	78										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					AGGTGGATTGGATATCTGCAG	0.308000														64			9		0	0	0.000978159	0	0
LYST	1130	broad.mit.edu	37	1	235973692	235973692	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:235973692T>G	uc001hxj.2	-	4	601	c.426A>C	c.(424-426)aaA>aaC	p.K142N	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.K142N	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	142					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTCGTCTGCTTTTTCGAAAAA	0.388000														92			19		0	0	0.00188189	0	0
SYTL4	94121	broad.mit.edu	37	X	99955922	99955922	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:99955922C>T	uc004egd.4	-	6	866	c.510G>A	c.(508-510)aaG>aaA	p.K170K	SYTL4_uc010nnc.3_Silent_p.K170K|SYTL4_uc004ege.4_Silent_p.K170K|SYTL4_uc004egf.4_Silent_p.K170K|SYTL4_uc004egg.4_Silent_p.K170K	NM_080737	NP_542775	Q96C24	SYTL4_HUMAN	Homo sapiens synaptotagmin-like 4 (SYTL4), transcript variant 1, mRNA.	170					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	Rab GTPase binding|neurexin binding|phospholipid binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTGAATGATCTTTCTTCCTG	0.403000														61			65		0	0	0.000781405	0	0
ABCC11	85320	broad.mit.edu	37	16	48261816	48261816	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:48261816C>T	uc002eff.1	-	2	646	c.296G>A	c.(295-297)tGg>tAg	p.W99*	ABCC11_uc002efg.1_Nonsense_Mutation_p.W99*|ABCC11_uc002efh.1_Nonsense_Mutation_p.W99*|ABCC11_uc010vgl.1_Nonsense_Mutation_p.W99*	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	99						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CGGGGTGAGCCATGACACGGT	0.527000														41			14		0	0	0.00244969	0	0
SERPINA4	5267	broad.mit.edu	37	14	95030272	95030272	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:95030272C>T	uc010avd.3	+	1	838	c.564C>T	c.(562-564)ttC>ttT	p.F188F	SERPINA4_uc001ydk.3_Silent_p.F151F|SERPINA4_uc001ydl.3_Silent_p.F151F	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	151					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.K188*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		ACCTGAAGTTCCTTGCAAAAT	0.542000														43			17		0	0	0.000422831	0	0
SNAPC4	6621	broad.mit.edu	37	9	139272788	139272788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:139272788G>A	uc004chh.3	-	20	3500	c.3491C>T	c.(3490-3492)cCt>cTt	p.P1164L		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	1164	Pro-rich.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGCTTCTGCAGGACTTTGGGA	0.632000														6			5		0	0	0.000602214	0	0
NEK11	79858	broad.mit.edu	37	3	130871529	130871529	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:130871529C>T	uc003eny.3	+	8	1178	c.852C>T	c.(850-852)atC>atT	p.I284I	NEK11_uc003enx.3_Silent_p.I284I|NEK11_uc003eoa.3_Silent_p.I284I|NEK11_uc003enz.3_Silent_p.I102I|NEK11_uc011blk.2_Silent_p.I136I|NEK11_uc011bll.2_Intron|NEK11_uc011blm.2_Silent_p.I284I	NM_024800	NP_079076	Q8NG66	NEK11_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 11 (NEK11), transcript variant 1, mRNA.	284	Protein kinase.				cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						TTTTAAAAATCCCTTACCTTG	0.323000														24			11		0	0	0.000978159	0	0
THSD7A	221981	broad.mit.edu	37	7	11630095	11630095	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:11630095T>C	uc021zzo.1	-	3	1697	c.1445A>G	c.(1444-1446)aAc>aGc	p.N482S	THSD7A_uc021zzn.1_Missense_Mutation_p.N482S	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	482	TSP type-1 4.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACCTTCTTTGTTCTTGTGGGT	0.493000										HNSCC(18;0.044)				34			4		0	0	0.000602214	0	0
SERPINE3	647174	broad.mit.edu	37	13	51915300	51915300	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:51915300G>A	uc001vfh.2	+	0	133	c.73G>A	c.(73-75)Gga>Aga	p.G25R	SERPINE3_uc010tgp.2_Missense_Mutation_p.G25R	NM_001101320	NP_001094790	A8MV23	SERP3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3 (SERPINE3), mRNA.	25					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						CCTCCGTGAAGGAATGACATT	0.532000														26			5		0	0	0.000602214	0	0
GPR45	11250	broad.mit.edu	37	2	105859087	105859087	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:105859087G>A	uc002tco.1	+	0	888	c.772G>A	c.(772-774)Gac>Aac	p.D258N		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	258						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.V257V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GGTCAGCGTGGACTTGAGCTT	0.652000														51			33		0	0	0.000953801	0	0
SULT1A1	6817	broad.mit.edu	37	16	28618084	28618084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:28618084C>T	uc002dqn.3	-	8	1457	c.865G>A	c.(865-867)Gag>Aag	p.E289K	NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Missense_Mutation_p.E198K|SULT1A1_uc002dqi.3_Missense_Mutation_p.E198K|SULT1A1_uc002dqk.3_Missense_Mutation_p.E198K|SULT1A1_uc002dql.3_Missense_Mutation_p.E198K|SULT1A1_uc002dqm.3_Missense_Mutation_p.E120K|SULT1A1_uc002dqp.3_Missense_Mutation_p.E198K	NM_177534	NP_803878	P50225	ST1A1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.	198					3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						GGTCTCACCTCCTTCATGTCT	0.632000														29			8		0	0	0.000274275	0	0
CACNA1E	777	broad.mit.edu	37	1	181705548	181705548	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:181705548T>C	uc009wxt.3	+	21	3595	c.3400T>C	c.(3400-3402)Ttc>Ctc	p.F1134L	CACNA1E_uc001gow.3_Missense_Mutation_p.F1134L|CACNA1E_uc009wxs.3_Missense_Mutation_p.F1115L|CACNA1E_uc001gox.1_Missense_Mutation_p.F360L	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	1134					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CAGCTCAATGTTCATCTTCAG	0.572000														8			4		0	0	0.00116845	0	0
LRP1B	53353	broad.mit.edu	37	2	141986896	141986896	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:141986896G>A	uc002tvj.1	-	5	1678	c.706C>T	c.(706-708)Cat>Tat	p.H236Y	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	236					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)		TCCAGAGTATGAATTTCATTT	0.303000										TSP Lung(27;0.18)				80			12		0	0	0.00185496	0	0
ZNF223	7766	broad.mit.edu	37	19	44570592	44570592	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:44570592T>G	uc002oyf.1	+	4	864	c.611T>G	c.(610-612)tTt>tGt	p.F204C	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	Homo sapiens zinc finger protein 223 (ZNF223), mRNA.	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				GAGAAACTCTTTAAGTGTGAC	0.423000														90			5		0	0	0.000602214	0	0
abParts	0	broad.mit.edu	37	14	106815853	106815853	+	RNA	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:106815853C>T	uc021ser.1	-	558		c.15874G>A								Parts of antibodies, mostly variable regions.																		TTATTACTTCCATCATACCAT	0.517000														54			10		0	0	0.00136819	0	0
FABP12	646486	broad.mit.edu	37	8	82441702	82441702	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:82441702C>T	uc011lfp.2	-	1	217	c.217G>A	c.(217-219)Gaa>Aaa	p.E73K	FABP12_uc003ycg.4_Non-coding_Transcript	NM_001105281	NP_001098751	A6NFH5	FBP12_HUMAN	Homo sapiens fatty acid binding protein 12 (FABP12), mRNA.	73							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						GGCGTGATTTCCTCAAACTCT	0.403000														237			26		0	0	0.00283554	0	0
VPS13B	157680	broad.mit.edu	37	8	100844830	100844830	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:100844830G>A	uc003yiv.3	+	51	9750	c.9639G>A	c.(9637-9639)caG>caA	p.Q3213Q	VPS13B_uc003yiw.3_Silent_p.Q3188Q	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3213					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCCCAGACAGAGTGTGGCAG	0.473000														60			7		0	0	0.000442599	0	0
CCDC93	54520	broad.mit.edu	37	2	118696639	118696639	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:118696639G>A	uc002tlj.3	-	19	1739	c.1571C>T	c.(1570-1572)aCc>aTc	p.T524I	CCDC93_uc010fld.2_Missense_Mutation_p.T580I	NM_019044	NP_061917	Q567U6	CCD93_HUMAN	Homo sapiens coiled-coil domain containing 93 (CCDC93), mRNA.	524										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						ATCATCCAGGGTATTATATAA	0.358000														22			11		0	0	0.00244969	0	0
MAMDC2	256691	broad.mit.edu	37	9	72724664	72724664	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:72724664G>A	uc004ahm.2	+	3	1066	c.449G>A	c.(448-450)gGa>gAa	p.G150E	MAMDC2_uc004ahn.2_Non-coding_Transcript	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	150	MAM 1.					endoplasmic reticulum|membrane		p.Q149H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CTAGGACAGGGAAACACAGCC	0.383000														40			16		0	0	0.00121646	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413779	22413779	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:22413779C>T	uc001yuf.3	+	0	318	c.78C>T	c.(76-78)ttC>ttT	p.F26F	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		TCTTGCACTTCCTTGGAGGAG	0.493000														78			18		0	0	0.00278032	0	0
ING1	3621	broad.mit.edu	37	13	111367820	111367821	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:111367820_111367821CC>TT	uc001vri.3	+	0	462_463	c.30_31CC>TT	c.(28-33)tcccct>tcTTct	p.P11S	CARS2_uc010tjm.1_5'Flank|DJ031140_uc001vre.3_5'Flank|ING1_uc001vrf.3_Intron|ING1_uc001vrg.3_Intron|ING1_uc001vrh.3_Intron	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	Homo sapiens inhibitor of growth family, member 1 (ING1), transcript variant 4, mRNA.	11					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CTTATCATTCCCCTGCGGAACG	0.505000														41			24		0	0	6.4e-05	0	0
FRMD3	257019	broad.mit.edu	37	9	85958174	85958174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:85958174C>T	uc004ams.2	-	4	605	c.403G>A	c.(403-405)Gac>Aac	p.D135N	FRMD3_uc004amr.1_Missense_Mutation_p.D135N|FRMD3_uc022bja.1_Missense_Mutation_p.D91N	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	135	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	p.R134R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TGAAAAATGTCCCTTTTAATC	0.463000														27			18		0	0	0.00152264	0	0
PRMT8	56341	broad.mit.edu	37	12	3701474	3701474	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:3701474G>A	uc001qmf.3	+	8	1424	c.1057G>A	c.(1057-1059)Gaa>Aaa	p.E353K	PRMT8_uc009zed.3_Missense_Mutation_p.E344K|PRMT8_uc001qmg.3_Missense_Mutation_p.E167K|PRMT8_uc001qmh.3_Non-coding_Transcript	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA.	353					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GAGGGGGGAGGAAATCTACGG	0.552000														28			5		0	0	0.00116845	0	0
SETD3	84193	broad.mit.edu	37	14	99927618	99927618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:99927618C>T	uc001ygc.3	-	3	426	c.256G>A	c.(256-258)Gcc>Acc	p.A86T	SETD3_uc001ygd.3_Missense_Mutation_p.A86T|SETD3_uc021sbn.1_Missense_Mutation_p.A86T|SETD3_uc001ygf.3_Missense_Mutation_p.A86T	NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	Homo sapiens SET domain containing 3 (SETD3), transcript variant 1, mRNA.	86	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				TTTTCAGAGGCCCATTTCATT	0.373000														56			12		0	0	0.000978159	0	0
CRLF2	64109	broad.mit.edu	37	X	1321372	1321372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:1321372G>A	uc004cpk.2	-	3	385	c.383C>T	c.(382-384)tCg>tTg	p.S128L	CRLF2_uc022brt.1_Missense_Mutation_p.S128L|CRLF2_uc004cpl.2_Missense_Mutation_p.S16L|CRLF2_uc022brs.1_Missense_Mutation_p.S128L	NM_022148	NP_071431	Q9HC73	CRLF2_HUMAN	Homo sapiens cytokine receptor-like factor 2 (CRLF2), transcript variant 1, mRNA.	128	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity	p.S128L(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		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)				CTGATGCCACGAAAATCTCAC	0.547000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""									58			19		0	0	0.00278032	0	0
NADKD1	133686	broad.mit.edu	37	5	36195254	36195254	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:36195254C>T	uc003jkf.4	-	11	1321	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	NADKD1_uc003jke.4_Non-coding_Transcript|NADKD1_uc010iux.3_Missense_Mutation_p.E246K|NADKD1_uc003jkg.4_Missense_Mutation_p.E278K|NADKD1_uc011cov.2_Missense_Mutation_p.E300K	NM_001085411	NP_694558	Q4G0N4	NAKD1_HUMAN	Homo sapiens NAD kinase domain containing 1 (NADKD1), transcript variant 1, mRNA.	441							NAD+ kinase activity			NS(1)|breast(1)|lung(5)|ovary(4)|prostate(1)	12						CTTCACTGTTCAAGAAGCACA	0.363000														25			17		0	0	0.000958276	0	0
SBF2	81846	broad.mit.edu	37	11	10064411	10064411	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:10064411C>T	uc001mib.2	-	2	397	c.259G>A	c.(259-261)Gag>Aag	p.E87K	SBF2_uc001mif.3_5'UTR	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	87					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ATCTCTGCCTCATAGAAGGTT	0.413000														48			7		0	0	0.00198382	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629400	1629400	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:1629400G>A	uc001ltw.1	-	0	294	c.216C>T	c.(214-216)ggC>ggT	p.G72G	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	72	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		CCCCCTTGCAGCCCCCACAAG	0.677000														30			15		0	0	0.00244969	0	0
PIK3CB	5291	broad.mit.edu	37	3	138474786	138474786	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:138474786G>A	uc011bmq.2	-	1	207	c.207C>T	c.(205-207)ttC>ttT	p.F69F		NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	69	PI3K-ABD.				G-protein coupled receptor protein signaling pathway|T cell receptor signaling pathway|activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TAAGGAGGTTGAACATTGGGT	0.368000														300			90		0	0	0.000781405	0	0
FKBP5	2289	broad.mit.edu	37	6	35565094	35565094	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:35565094G>A	uc011dte.1	-	5	799	c.596C>T	c.(595-597)cCa>cTa	p.P199L	FKBP5_uc003okx.2_Missense_Mutation_p.P199L|FKBP5_uc011dtf.1_Missense_Mutation_p.P20L|FKBP5_uc003oky.2_Missense_Mutation_p.P199L|FKBP5_uc003okz.2_Missense_Mutation_p.P199L	NM_001145776	NP_004108	Q13451	FKBP5_HUMAN	Homo sapiens FK506 binding protein 5 (FKBP5), transcript variant 3, mRNA.	199	PPIase FKBP-type 2.				protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						AATTCCAATTGGAATGTCGTG	0.483000														143			10		0	0	0.000978159	0	0
CALB2	794	broad.mit.edu	37	16	71423651	71423651	+	Splice_Site	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:71423651G>A	uc002faa.4	+	11	780	c.700_splice	c.e11-1	p.E234_splice	CALB2_uc010vme.2_Splice_Site|CALB2_uc002fac.4_Splice_Site	NM_001740	NP_001731	P22676	CALB2_HUMAN	Homo sapiens calbindin 2 (CALB2), transcript variant CALB2, mRNA.	234							calcium ion binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18		Ovarian(137;0.125)				GTATTTCCTAGGAAATGAATA	0.517000														62			17		0	0	0.00074312	0	0
TNFSF4	7292	broad.mit.edu	37	1	173176298	173176298	+	Silent	SNP	G	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:173176298G>C	uc001giw.3	-	0	174	c.18C>G	c.(16-18)ccC>ccG	p.P6P	TNFSF4_uc001giv.3_5'Flank	NM_003326	NP_003317	P23510	TNFL4_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 4 (TNFSF4), mRNA.	6					T-helper 2 cell activation|acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of T-helper 1 cell differentiation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell activation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of alpha-beta T cell proliferation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction	cell surface|extracellular space|integral to plasma membrane	cytokine activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						TCTCTTCCAGGGGTTGGACCC	0.498000														27			10		0	0	0.00136819	0	0
USF1	7391	broad.mit.edu	37	1	161010423	161010423	+	Silent	SNP	G	A	A	rs138288820		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:161010423G>A	uc001fxi.3	-	8	852	c.657C>T	c.(655-657)atC>atT	p.I219I	F11R_uc010pjw.2_5'Flank|F11R_uc001fxf.4_5'Flank|F11R_uc010pjx.2_5'Flank|F11R_uc009wtw.3_5'Flank|F11R_uc001fxh.4_5'Flank|USF1_uc001fxj.3_Silent_p.I160I	NM_007122	NP_996888	P22415	USF1_HUMAN	Homo sapiens upstream transcription factor 1 (USF1), transcript variant 1, mRNA.	219	Helix-loop-helix motif.				cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to UV|response to hypoxia	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			AGAGCTGCACGATCCAGTTGT	0.542000														43			9		0	0	0.000442599	0	0
OR10J1	26476	broad.mit.edu	37	1	159409836	159409836	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:159409836C>T	uc010piv.2	+	0	325	c.288C>T	c.(286-288)ctC>ctT	p.L96L	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	96					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	p.L96I(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					TCTCCAGCCTCGTAGGTATGA	0.468000														25			14		0	0	0.00185496	0	0
LILRB1	10859	broad.mit.edu	37	19	55142956	55142956	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:55142956C>T	uc002qgj.3	+	4	416	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.L26F|LILRB1_uc002qgk.3_Missense_Mutation_p.L26F|LILRB1_uc002qgm.3_Missense_Mutation_p.L26F|LILRB1_uc010erq.3_Missense_Mutation_p.L26F|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	26					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TCCAGGGCACCTCCCCAAGCC	0.622000										HNSCC(37;0.09)				42			9		0	0	0.000978159	0	0
HSPA8	3312	broad.mit.edu	37	11	122928507	122928507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:122928507G>A	uc001pyo.3	-	8	2011	c.1876C>T	c.(1876-1878)Cct>Tct	p.P626S	HSPA8_uc009zbc.3_Missense_Mutation_p.P390S|HSPA8_uc001pyp.3_Missense_Mutation_p.P473S|HSPA8_uc010rzu.2_Missense_Mutation_p.P549S	NM_006597	NP_006588	P11142	HSP7C_HUMAN	Homo sapiens heat shock 70kDa protein 8 (HSPA8), transcript variant 1, mRNA.	626					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		CCACCACCAGGAAATCCCCCA	0.522000														51			16		0	0	0.000422831	0	0
RANBP6	26953	broad.mit.edu	37	9	6012763	6012763	+	Missense_Mutation	SNP	G	A	A	rs147043824		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:6012763G>A	uc003zjr.3	-	0	2878	c.2845C>T	c.(2845-2847)Cgt>Tgt	p.R949C	RANBP6_uc011lmf.2_Missense_Mutation_p.R597C|RANBP6_uc003zjs.3_3'UTR	NM_012416	NP_036548	O60518	RNBP6_HUMAN	Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.	949					protein transport	cytoplasm|nucleus	binding	p.R949C(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CATAAAGAACGATAATCATCT	0.413000														34			8		0	0	0.000157383	0	0
EGR1	1958	broad.mit.edu	37	5	137802972	137802972	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:137802972G>A	uc003ldb.1	+	1	1104	c.834G>A	c.(832-834)gaG>gaA	p.E278E		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	278					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGGGCCTGGAGAGCCGCACCC	0.617000														31			6		0	0	0.000157383	0	0
SCN9A	6335	broad.mit.edu	37	2	167143021	167143021	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:167143021C>T	uc010fpl.3	-	10	1768	c.1427G>A	c.(1426-1428)aGa>aAa	p.R476K	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.R347K|SCN9A_uc002uds.1_Missense_Mutation_p.R347K|SCN9A_uc002udt.1_Missense_Mutation_p.R347K	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	476						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)	TCTGTTTCTTCTTTCTTTAGC	0.408000														19			12		0	0	0.000978159	0	0
SYNJ1	8867	broad.mit.edu	37	21	34003813	34003813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:34003813G>A	uc002yqh.2	-	31	4331	c.4331C>T	c.(4330-4332)cCt>cTt	p.P1444L	SYNJ1_uc011ads.1_3'UTR|SYNJ1_uc002yqf.2_3'UTR|SYNJ1_uc002yqg.2_Missense_Mutation_p.P1358L|SYNJ1_uc002yqi.2_3'UTR|SYNJ1_uc002yqe.4_Missense_Mutation_p.P30L	NM_003895	NP_003886	O43426	SYNJ1_HUMAN	Homo sapiens synaptojanin 1 (SYNJ1), transcript variant 1, mRNA.	1405	Pro-rich.						RNA binding|inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GTCACTGAAAGGATTTGTCCT	0.468000														16			4		0	0	0.00024832	0	0
PAX7	5081	broad.mit.edu	37	1	19027170	19027170	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:19027170C>T	uc001bay.3	+	5	1408	c.810C>T	c.(808-810)gcC>gcT	p.A270A	PAX7_uc001baz.3_Silent_p.A268A|PAX7_uc010oct.2_Silent_p.A270A	NM_002584	NP_002575	P23759	PAX7_HUMAN	Homo sapiens paired box 7 (PAX7), transcript variant 1, mRNA.	270					anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		ACCGCCGCGCCCGTTGGCGTA	0.647000			T	FOXO1A	alveolar rhabdomyosarcoma									31			4		0	0	0.00198382	0	0
TRIM42	287015	broad.mit.edu	37	3	140406593	140406593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:140406593G>A	uc003eto.2	+	2	1275	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	357						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						TGACCTAATGGAATTCAACAT	0.373000														33			9		0	0	0.000442599	0	0
MYH8	4626	broad.mit.edu	37	17	10302164	10302164	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:10302164A>T	uc002gmm.2	-	28	3997	c.3902T>A	c.(3901-3903)gTc>gAc	p.V1301D	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1301					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AAGCTGAGAGACTAAAGCATC	0.358000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					51			18		0	0	0.00121646	0	0
FLJ43315	644316	broad.mit.edu	37	GL000211.1	107039	107039	+	RNA	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrGL000211.1:107039G>A	uc003boa.3	+	3		c.738G>A								Homo sapiens asparagine synthetase pseudogene (FLJ43315), non-coding RNA.																		CTGTGACAAAGAAAATAGAAC	0.373000														195			9		0	0	0.000673444	0	0
AP2A2	161	broad.mit.edu	37	11	988673	988674	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:988673_988674CC>TT	uc001lst.2	+	9	1469_1470	c.1256_1257CC>TT	c.(1255-1257)tcc>tTT	p.S419F	AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Missense_Mutation_p.S418F	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	418					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	p.S419C(2)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCTGACTACTCCATCCGAGAAG	0.604000														43			9		0	0	6.4e-05	0	0
TYW1	55253	broad.mit.edu	37	7	66489954	66489955	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:66489954_66489955CC>TT	uc003tvn.3	+	6	1078_1079	c.929_930CC>TT	c.(928-930)tcc>tTT	p.S310F	TYW1_uc010lai.3_Non-coding_Transcript	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	310					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				AGCCTAAATTCCATTGTTGATG	0.426000														103			9		0	0	6.4e-05	0	0
ZNF253	56242	broad.mit.edu	37	19	20002943	20002943	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:20002943C>T	uc002noj.3	+	3	979	c.887C>T	c.(886-888)cCc>cTc	p.P296L	ZNF253_uc002nok.3_Missense_Mutation_p.P220L|ZNF253_uc002nol.3_Non-coding_Transcript	NM_021047	NP_066385	O75346	ZN253_HUMAN	Homo sapiens zinc finger protein 253 (ZNF253), mRNA.	296				Missing (in Ref. 1; AAC26844).|Missing (in Ref. 2; BAC11185).	negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTAAGCACCCCTCACACGTT	0.408000														17			4		0	0	0.00024832	0	0
WWP2	11060	broad.mit.edu	37	16	69832662	69832662	+	Missense_Mutation	SNP	C	T	T	rs150059700	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:69832662C>T	uc002exu.1	+	3	237	c.148C>T	c.(148-150)Ccc>Tcc	p.P50S	WWP2_uc002ext.3_Missense_Mutation_p.P50S|WWP2_uc002exv.1_Missense_Mutation_p.P50S	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	50	C2.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGATGGACTCCCCAGTGAGAC	0.493000											OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		65			14		0	0	0.00074312	0	0
FLG	2312	broad.mit.edu	37	1	152281216	152281216	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152281216C>T	uc001ezu.1	-	2	6182	c.6146G>A	c.(6145-6147)gGa>gAa	p.G2049E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2049	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTGAATGTCCCTCACTGTC	0.562000									Ichthyosis					224			40		0	0	0.00128727	0	0
DTX1	1840	broad.mit.edu	37	12	113532692	113532692	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:113532692C>T	uc001tuk.1	+	5	1662	c.1326C>T	c.(1324-1326)ggC>ggT	p.G442G		NM_004416	NP_004407	Q86Y01	DTX1_HUMAN	Homo sapiens deltex homolog 1 (Drosophila) (DTX1), mRNA.	442					Notch signaling pathway|negative regulation of neuron differentiation|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GCCGCCTGGGCCGCTGTGGCC	0.642000														36			7		0	0	0.000673444	0	0
IKZF1	10320	broad.mit.edu	37	7	50444346	50444346	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:50444346G>A	uc003tow.4	+	3	431	c.276G>A	c.(274-276)atG>atA	p.M92I	IKZF1_uc022acq.1_Missense_Mutation_p.M92I|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.M92I|IKZF1_uc022acv.1_Intron|IKZF1_uc022acw.1_Intron|IKZF1_uc022acx.1_Missense_Mutation_p.M92I|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Intron|IKZF1_uc003toy.4_Missense_Mutation_p.M92I|IKZF1_uc003toz.4_Missense_Mutation_p.M62I|IKZF1_uc010kyx.3_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	92					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)				GAGAGAAAATGAATGGCTCCC	0.488000			"""D,T"""	BCL6	"""ALL, DLBCL"""									46			12		0	0	0.00185496	0	0
RYR1	6261	broad.mit.edu	37	19	38976641	38976641	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:38976641C>T	uc002oit.3	+	33	5476	c.5346C>T	c.(5344-5346)ttC>ttT	p.F1782F	RYR1_uc002oiu.3_Silent_p.F1782F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1782	6 X approximate repeats.				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)	CCCCCTGTTTCGTGGCCGCTC	0.682000														25			5		0	0	0.00116845	0	0
SGCZ	137868	broad.mit.edu	37	8	13948047	13948047	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:13948047C>T	uc003wwq.3	-	7	1504	c.844G>A	c.(844-846)Gaa>Aaa	p.E282K	SGCZ_uc010lss.3_Missense_Mutation_p.E235K	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	269					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		ACGCAGAGTTCATACACTGTC	0.473000														20			6		0	0	0.00116845	0	0
RERE	473	broad.mit.edu	37	1	8674734	8674734	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:8674734G>A	uc001ape.3	-	4	1218	c.408C>T	c.(406-408)tcC>tcT	p.S136S	RERE_uc001apf.3_Silent_p.S136S|RERE_uc001aph.1_Silent_p.S136S	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	136	BAH.				NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AACAGGCCTGGGAGTTGTGGA	0.537000														41			11		0	0	0.00185496	0	0
DNAH11	8701	broad.mit.edu	37	7	21654753	21654753	+	Silent	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:21654753T>C	uc003svc.3	+	20	3905	c.3874T>C	c.(3874-3876)Tta>Cta	p.L1292L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1292	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCTTGAGGCCTTAGAAGAAGA	0.398000									Kartagener syndrome					41			4		0	0	0.00024832	0	0
BAHCC1	57597	broad.mit.edu	37	17	79409825	79409825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:79409825C>T	uc002kaf.2	+	3	1264	c.1264C>T	c.(1264-1266)Cct>Tct	p.P422S	BAHCC1_uc002kae.2_5'Flank	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	484							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			CCCCGGACTCCCTAAAAGCGG	0.682000														8			7		0	0	0.000442599	0	0
ITSN2	50618	broad.mit.edu	37	2	24507641	24507641	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:24507641G>A	uc002rfe.2	-	16	2193	c.1935C>T	c.(1933-1935)ctC>ctT	p.L645L	ITSN2_uc002rff.2_Intron|ITSN2_uc002rfg.3_Silent_p.L645L	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	645					endocytosis|regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity|calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTAAGTAAGAGGAAGAGGT	0.338000														116			27		0	0	0.00209593	0	0
ZNF823	55552	broad.mit.edu	37	19	11833312	11833312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:11833312G>A	uc002msm.2	-	3	1163	c.1037C>T	c.(1036-1038)tCa>tTa	p.S346L	ZNF823_uc010xmd.1_Missense_Mutation_p.S164L|ZNF823_uc010dyi.1_Missense_Mutation_p.S302L	NM_001080493	NP_001073962	P16415	ZN823_HUMAN	Homo sapiens zinc finger protein 823 (ZNF823), mRNA.	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						ATTTCGAACTGAACTAGGACA	0.413000										HNSCC(68;0.2)				48			18		0	0	0.000566183	0	0
SVIL	6840	broad.mit.edu	37	10	29812863	29812863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:29812863G>A	uc001iut.1	-	14	3433	c.2680C>T	c.(2680-2682)Ctt>Ttt	p.L894F	SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Missense_Mutation_p.L468F	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	894					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TTTGTGCGAAGATCTCCGGCA	0.468000														56			16		0	0	0.000566183	0	0
MYLK	4638	broad.mit.edu	37	3	123512533	123512533	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:123512533G>A	uc003ego.3	-	3	438	c.156C>T	c.(154-156)ttC>ttT	p.F52F	MYLK_uc011bjw.2_Silent_p.F52F|MYLK_uc003egp.3_Silent_p.F52F|MYLK_uc003egq.3_Silent_p.F52F|MYLK_uc003egr.3_Silent_p.F52F|MYLK_uc003egs.3_5'UTR|MYLK_uc010hrs.1_Silent_p.F52F|MYLK_uc003egu.1_Silent_p.F62F	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	52	Ig-like C2-type 1.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity	p.F52F(4)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCCGCCCTTCGAACTTGGCGG	0.602000														18			9		0	0	0.000442599	0	0
AKTIP	64400	broad.mit.edu	37	16	53529232	53529232	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:53529232C>A	uc002ehm.3	-	3	437	c.255G>T	c.(253-255)ttG>ttT	p.L85F	AKTIP_uc002ehk.3_Missense_Mutation_p.L85F|AKTIP_uc002ehl.3_Missense_Mutation_p.L85F|AKTIP_uc010vgx.2_Missense_Mutation_p.L85F	NM_022476	NP_071921	Q9H8T0	AKTIP_HUMAN	Homo sapiens AKT interacting protein (AKTIP), transcript variant 2, mRNA.	85					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)				GCTTCACAACCAAGGTACTAC	0.418000														206			9		0.000978159	0.00327336	0.000978159	1	0
MUC13	56667	broad.mit.edu	37	3	124635246	124635246	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:124635246G>A	uc003ehq.2	-	5	918	c.879C>T	c.(877-879)acC>acT	p.T293T		NM_033049	NP_149038	Q9H3R2	MUC13_HUMAN	Homo sapiens mucin 13, cell surface associated (MUC13), mRNA.	293	SEA.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						TGTCACTTGTGGTTTCTGCCA	0.323000														44			20		0	0	0.00152264	0	0
FGFR1	2260	broad.mit.edu	37	8	38275794	38275794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:38275794G>A	uc022aua.1	-	9	2324	c.1382C>T	c.(1381-1383)tCt>tTt	p.S461F	FGFR1_uc010lwf.3_Non-coding_Transcript|FGFR1_uc011lbu.2_Missense_Mutation_p.S492F|FGFR1_uc011lbv.2_Missense_Mutation_p.S459F|FGFR1_uc011lbw.2_Missense_Mutation_p.S372F|FGFR1_uc003xlp.3_Missense_Mutation_p.S459F|FGFR1_uc022aub.1_Missense_Mutation_p.S459F|FGFR1_uc022auc.1_Missense_Mutation_p.S372F|FGFR1_uc022aud.1_Missense_Mutation_p.S370F|FGFR1_uc010lwk.3_Missense_Mutation_p.S451F	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	461					MAPKKK cascade|axon guidance|cell growth|insulin receptor signaling pathway|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	p.V460V(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CTCATACTCAGAGACCCCTGC	0.542000		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""							42			9		0	0	0.000274275	0	0
RPF2	84154	broad.mit.edu	37	6	111345505	111345505	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:111345505C>T	uc003pun.3	+	8	735	c.716C>T	c.(715-717)tCt>tTt	p.S239F	RPF2_uc003puo.3_Missense_Mutation_p.S176F	NM_032194	NP_115570	Q9H7B2	RPF2_HUMAN	Homo sapiens ribosome production factor 2 homolog (S. cerevisiae) (RPF2), mRNA.	239						nucleolus	protein binding	p.L238S(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						TATAAATTATCTATGAAAATG	0.378000														41			10		0	0	0.000673444	0	0
DYSF	8291	broad.mit.edu	37	2	71708023	71708023	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:71708023G>A	uc010fen.3	+	1	243	c.102G>A	c.(100-102)aaG>aaA	p.K34K	DYSF_uc010fei.3_Silent_p.K33K|DYSF_uc010feh.3_Silent_p.K33K|DYSF_uc002sig.4_Silent_p.K33K|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.K33K|DYSF_uc010fee.3_Silent_p.K33K|DYSF_uc010fef.3_Silent_p.K33K|DYSF_uc002sie.3_Silent_p.K33K|DYSF_uc010feo.3_Silent_p.K34K|DYSF_uc010fej.3_Silent_p.K34K|DYSF_uc010fel.3_Silent_p.K34K|DYSF_uc010fem.3_Silent_p.K34K|DYSF_uc002sif.3_Silent_p.K34K|DYSF_uc010fek.3_Silent_p.K34K	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	33	C2 1.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GGGTGAAGAAGAGAACCAAAG	0.483000														17			4		0	0	0.000274275	0	0
CYP4B1	1580	broad.mit.edu	37	1	47276554	47276554	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:47276554C>T	uc001cqn.4	+	1	339	c.255C>T	c.(253-255)ttC>ttT	p.F85F	CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Silent_p.F85F|CYP4B1_uc009vym.3_Silent_p.F85F|CYP4B1_uc010omk.2_Intron|CYP4B1_uc010oml.1_5'Flank	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	85					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.F85F(4)		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)					CACTCTGGTTCGGACAGTTCA	0.567000														16			5		0	0	0.000602214	0	0
U2AF1L4	199746	broad.mit.edu	37	19	36234992	36234992	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:36234992A>G	uc002obg.3	-	4	418	c.109T>C	c.(109-111)Ttc>Ctc	p.F37L	IGFLR1_uc002obb.3_5'Flank|IGFLR1_uc002obc.3_5'Flank|IGFLR1_uc010xsy.2_5'Flank|IGFLR1_uc002obd.4_5'Flank|IGFLR1_uc010eej.3_5'UTR|U2AF1L4_uc002obe.3_Missense_Mutation_p.F96L|U2AF1L4_uc002obf.3_Missense_Mutation_p.F96L|U2AF1L4_uc002obh.1_Silent_p.G13G|PSENEN_uc002obi.1_5'Flank|PSENEN_uc002obj.1_5'Flank|PSENEN_uc002obk.1_5'Flank			Q8WU68	U2AF4_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 1-like 4 (U2AF1L4), transcript variant 1, mRNA.	135					RNA splicing|mRNA processing	nuclear speck|spliceosomal complex	RNA binding|nucleotide binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCCCGTTGAACCAGCGGTTA	0.577000														20			6		0	0	0.00116845	0	0
SLC35G6	643664	broad.mit.edu	37	17	7386304	7386305	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7386304_7386305GG>AA	uc010cmj.1	+	1	1116_1117	c.1001_1002GG>AA	c.(1000-1002)ggg>gAA	p.G334E	ZBTB4_uc002ghd.4_Intron|POLR2A_uc002ghe.3_5'Flank|POLR2A_uc002ghf.4_5'Flank	NM_001102614	NP_001096084	P0C7Q6	AMCL3_HUMAN	Homo sapiens solute carrier family 35, member G6 (SLC35G6), mRNA.	334						integral to membrane											GAGAGGGAAGGGAAGGTGGAGG	0.559000														19			6		0	0	6.4e-05	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146536841	146536841	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:146536841C>T	uc003weu.2	+	2	763	c.247C>T	c.(247-249)Caa>Taa	p.Q83*		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	83	F5/8 type C.				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			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)			CGACCATTATCAATGGCTTCA	0.468000										HNSCC(39;0.1)				52			14		0	0	0.00074312	0	0
ABCC8	6833	broad.mit.edu	37	11	17464409	17464409	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:17464409C>T	uc001mnc.3	-	9	1614	c.1488G>A	c.(1486-1488)ctG>ctA	p.L496L	ABCC8_uc010rcy.1_Silent_p.L495L	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	496	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			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)	TGGTCTGCTTCAGCCGCTCAT	0.607000														83			33		0	0	0.000953801	0	0
KIAA1456	57604	broad.mit.edu	37	8	12879296	12879296	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:12879296C>T	uc010lsq.3	+	4	1600	c.1108C>T	c.(1108-1110)Cct>Tct	p.P370S	KIAA1456_uc011kxw.2_Intron|KIAA1456_uc003wwj.4_Missense_Mutation_p.P283S|KIAA1456_uc010lsr.3_Missense_Mutation_p.P244S	NM_020844	NP_001093147	Q9P272	K1456_HUMAN	Homo sapiens KIAA1456 (KIAA1456), transcript variant 1, mRNA.	370							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7						AGATGATAATCCTTCTGCTAG	0.403000														11			20		0	0	0.00152264	0	0
WDR18	57418	broad.mit.edu	37	19	989777	989777	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:989777C>T	uc002lqm.1	+	2	363	c.337C>T	c.(337-339)Ctt>Ttt	p.L113F		NM_024100	NP_077005	Q9BV38	WDR18_HUMAN	Homo sapiens WD repeat domain 18 (WDR18), mRNA.	113										endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCGGGAACCTTCTGGTCAT	0.627000														35			12		0	0	0.000308642	0	0
GLB1	2720	broad.mit.edu	37	3	33038575	33038576	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:33038575_33038576GG>AA	uc011axk.1	-	16	2256_2257	c.2139_2140CC>TT	c.(2137-2142)cccccg>ccTTcg	p.P714S	GLB1_uc003cfh.1_Missense_Mutation_p.P636S|GLB1_uc003cfi.1_Missense_Mutation_p.P666S|GLB1_uc003cfj.1_Missense_Mutation_p.P535S	NM_001079811	NP_001073279	P16278	BGAL_HUMAN	Homo sapiens galactosidase, beta 1 (GLB1), transcript variant 2, mRNA.	666					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TTTTTTTGCGGGGGTGGGGGCA	0.480000														44			20		0	0	6.4e-05	0	0
EXPH5	23086	broad.mit.edu	37	11	108381478	108381478	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:108381478C>T	uc001pkk.3	-	5	4867	c.4756G>A	c.(4756-4758)Gaa>Aaa	p.E1586K	EXPH5_uc010rvz.2_Missense_Mutation_p.E1430K|EXPH5_uc010rvy.2_Missense_Mutation_p.E1398K	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1586					intracellular protein transport		Rab GTPase binding	p.G1585G(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GATCTATTTTCCCCCTTTACT	0.418000														99			18		0	0	0.00229938	0	0
ASXL2	55252	broad.mit.edu	37	2	26029195	26029195	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:26029195G>A	uc002rgs.2	-	2	376	c.155C>T	c.(154-156)cCt>cTt	p.P52L		NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	52					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATGCAAGAGGAGAAGTCCC	0.373000														13			10		0	0	0.00136819	0	0
SBK1	388228	broad.mit.edu	37	16	28330371	28330371	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:28330371C>T	uc002dpd.3	+	2	1071	c.282C>T	c.(280-282)ttC>ttT	p.F94F		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA.	94	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						TGAAGAACTTCCTACGGGAGG	0.522000														58			19		0	0	0.00229938	0	0
NEBL	10529	broad.mit.edu	37	10	21129735	21129735	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:21129735C>T	uc001iqi.3	-	12	1668	c.1271G>A	c.(1270-1272)gGa>gAa	p.G424E	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.	424					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						AAGTTCCATTCCTTTCCCTTT	0.333000														47			9		0	0	0.000274275	0	0
OR2G6	391211	broad.mit.edu	37	1	248685473	248685473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248685473C>T	uc001ien.1	+	0	526	c.526C>T	c.(526-528)Cat>Tat	p.H176Y		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	176					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)			CACACTGGATCATATTTTCTG	0.532000														32			11		0	0	0.000978159	0	0
CDK13	8621	broad.mit.edu	37	7	40037154	40037154	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:40037154C>T	uc003thh.4	+	2	2215	c.1933C>T	c.(1933-1935)Ctt>Ttt	p.L645F	CDK13_uc003thi.4_Missense_Mutation_p.L645F|CDK13_uc011kbf.2_Missense_Mutation_p.L31F	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	645					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						ACTCCGATGTCTTCTTGCTGA	0.368000														197			28		0	0	0.00209593	0	0
CTNND1	1500	broad.mit.edu	37	11	57563996	57563996	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:57563996T>G	uc001nmc.4	+	5	1059	c.488T>G	c.(487-489)tTg>tGg	p.L163W	CTNND1_uc001nlf.2_Missense_Mutation_p.L163W|CTNND1_uc021qjk.1_Missense_Mutation_p.L163W|CTNND1_uc001nlh.1_Missense_Mutation_p.L163W|CTNND1_uc001nlj.4_Missense_Mutation_p.L109W|CTNND1_uc001nlq.4_Missense_Mutation_p.L62W|CTNND1_uc001nlr.4_Missense_Mutation_p.L109W|CTNND1_uc001nln.4_Missense_Mutation_p.L163W|CTNND1_uc001nli.4_Missense_Mutation_p.L163W|CTNND1_uc001nlo.4_Missense_Mutation_p.L62W|CTNND1_uc001nlp.4_Missense_Mutation_p.L109W|CTNND1_uc001nlu.4_Missense_Mutation_p.L62W|CTNND1_uc001nlt.4_Missense_Mutation_p.L62W|CTNND1_uc001nlv.4_Missense_Mutation_p.L62W|CTNND1_uc001nls.4_Missense_Mutation_p.L62W|CTNND1_uc001nlw.4_Missense_Mutation_p.L62W|CTNND1_uc001nmf.4_Missense_Mutation_p.L163W|CTNND1_uc001nlx.4_Intron|CTNND1_uc001nlz.4_Intron|CTNND1_uc009ymn.3_Intron|CTNND1_uc001nly.4_Intron|CTNND1_uc001nmb.4_Intron|CTNND1_uc001nma.4_Intron|CTNND1_uc001nmd.4_Missense_Mutation_p.L109W|CTNND1_uc001nlk.4_Missense_Mutation_p.L109W|CTNND1_uc001nme.4_Missense_Mutation_p.L163W|CTNND1_uc001nll.4_Missense_Mutation_p.L109W|CTNND1_uc001nlm.4_Missense_Mutation_p.L163W|CTNND1_uc001nmi.4_Missense_Mutation_p.L62W|CTNND1_uc001nmg.4_Missense_Mutation_p.L109W|CTNND1_uc001nmh.4_Missense_Mutation_p.L163W	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	163					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				CCAGACGGGTTGCCTGTGGAT	0.473000														28			12		0	0	0.000978159	0	0
SLC44A5	204962	broad.mit.edu	37	1	75685496	75685496	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:75685496G>A	uc010oqz.1	-	13	1350	c.1284C>T	c.(1282-1284)gtC>gtT	p.V428V	SLC44A5_uc001dgt.2_Silent_p.V389V|SLC44A5_uc001dgs.2_Silent_p.V347V|SLC44A5_uc001dgr.2_Silent_p.V347V|SLC44A5_uc001dgu.3_Silent_p.V389V|SLC44A5_uc010ora.2_Silent_p.V383V|SLC44A5_uc010orb.2_Silent_p.V259V	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	389						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CTGCTGTCACGACCCAGTAGC	0.403000														24			6		0	0	0.00198382	0	0
PRDM9	56979	broad.mit.edu	37	5	23522427	23522427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:23522427G>A	uc003jgo.3	+	6	705	c.523G>A	c.(523-525)Gag>Aag	p.E175K		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	175					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAGGAAGAAGGAGACTGAAAG	0.428000										HNSCC(3;0.000094)				71			46		0	0	0.000781405	0	0
GPR87	53836	broad.mit.edu	37	3	151012560	151012560	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:151012560C>T	uc003eyt.2	-	2	835	c.474G>A	c.(472-474)acG>acA	p.T158T	MED12L_uc003eyp.3_Intron|MED12L_uc011bnz.2_Intron	NM_023915	NP_076404	Q9BY21	GPR87_HUMAN	Homo sapiens G protein-coupled receptor 87 (GPR87), mRNA.	158						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATAAAACCTTCGTGAAGGTTA	0.438000														53			12		0	0	0.00136819	0	0
DGKD	8527	broad.mit.edu	37	2	234368427	234368427	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:234368427C>T	uc002vui.1	+	22	2731	c.2719C>T	c.(2719-2721)Ctt>Ttt	p.L907F	DGKD_uc002vuj.1_Missense_Mutation_p.L863F|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	907					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GATCTCCATCCTTGGGGATGA	0.567000														22			5		0	0	0.00116845	0	0
KCNG4	93107	broad.mit.edu	37	16	84270431	84270431	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:84270431T>A	uc010voc.2	-	1	782	c.661A>T	c.(661-663)Aag>Tag	p.K221*	KCNG4_uc002fhu.1_Nonsense_Mutation_p.K221*	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	221						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GCGAAGACCTTCCCGGGCAGC	0.682000														21			5		0	0	0.000602214	0	0
OR4X1	390113	broad.mit.edu	37	11	48285545	48285545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:48285545G>A	uc010rht.2	+	0	133	c.133G>A	c.(133-135)Gtg>Atg	p.V45M		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CCTCATTGTGGTGACCATCCT	0.493000														15			10		0	0	0.000442599	0	0
OSBPL6	114880	broad.mit.edu	37	2	179214032	179214032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179214032C>T	uc002uly.3	+	12	1688	c.1144C>T	c.(1144-1146)Ccc>Tcc	p.P382S	OSBPL6_uc002ulw.3_Missense_Mutation_p.P326S|OSBPL6_uc002ulx.3_Missense_Mutation_p.P357S|OSBPL6_uc010zfe.2_Missense_Mutation_p.P326S|OSBPL6_uc002ulz.3_Missense_Mutation_p.P357S|OSBPL6_uc002uma.3_Missense_Mutation_p.P361S	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	357					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			ATTTCAGACTCCCCCTAGCCA	0.428000														66			47		0	0	0.000781405	0	0
CTCF	10664	broad.mit.edu	37	16	67650748	67650748	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:67650748C>T	uc002etl.3	+	4	1497	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	CTCF_uc010cek.3_Silent_p.F23F	NM_006565	NP_001177951	P49711	CTCF_HUMAN	Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.	351					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AGAAGCCATTCAAGTGTTCCA	0.463000														151			12		0	0	0.000308642	0	0
ANKRD20A2	441430	broad.mit.edu	37	2	95515041	95515041	+	RNA	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:95515041G>A	uc010fhp.3	-	3		c.410C>T						Q5SQ80	A20A2_HUMAN	Homo sapiens ankyrin repeat domain 20 family, member A8, pseudogene (ANKRD20A8P), non-coding RNA.											large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						ATAAAAGTGGGGTATTACTGT	0.333000														106			27		0	0	0.001512	0	0
FRS3	10817	broad.mit.edu	37	6	41738703	41738703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:41738703G>A	uc003orc.1	-	6	1377	c.1133C>T	c.(1132-1134)gCc>gTc	p.A378V		NM_006653	NP_006644	O43559	FRS3_HUMAN	Homo sapiens fibroblast growth factor receptor substrate 3 (FRS3), mRNA.	378					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCGGATGGCGGCCCGGGTGCT	0.672000														40			29		0	0	0.00283554	0	0
BMP1	649	broad.mit.edu	37	8	22033798	22033798	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:22033798C>T	uc003xbg.3	+	2	671	c.405C>T	c.(403-405)atC>atT	p.I135I	BMP1_uc011kzb.2_Non-coding_Transcript|BMP1_uc003xbf.3_5'UTR|BMP1_uc003xbb.3_Silent_p.I135I|BMP1_uc003xbc.3_5'UTR|BMP1_uc003xbd.3_Non-coding_Transcript|BMP1_uc003xbe.3_Non-coding_Transcript|BMP1_uc011kzc.2_5'UTR|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	135	Metalloprotease.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ATGGGGTCATCCCCTTTGTCA	0.647000														29			9		0	0	0.000978159	0	0
MYBPC3	4607	broad.mit.edu	37	11	47354225	47354225	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:47354225C>T	uc021qis.1	-	31	3574	c.3519G>A	c.(3517-3519)aaG>aaA	p.K1173K	MYBPC3_uc021qir.1_Silent_p.K825K	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	1172					cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	ATPase activator activity|actin binding|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		AGTCCAGGGCCTTATAGTTGG	0.612000														6			3		0	0	6.4e-05	0	0
GLI1	2735	broad.mit.edu	37	12	57865064	57865064	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:57865064C>T	uc001snx.3	+	11	2635	c.2541C>T	c.(2539-2541)ctC>ctT	p.L847L	GLI1_uc021qzi.1_Silent_p.L806L|GLI1_uc009zpq.3_Silent_p.L719L	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	847					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)			CACAGCCTCTCTTTTCCCATT	0.612000														21			7		0	0	0.000274275	0	0
PDE1C	5137	broad.mit.edu	37	7	31855584	31855584	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:31855584C>T	uc003tcm.2	-	14	2228	c.1767G>A	c.(1765-1767)ggG>ggA	p.G589G	PDE1C_uc003tcn.1_Silent_p.G589G|PDE1C_uc003tco.2_Silent_p.G649G|PDE1C_uc003tcr.3_Silent_p.G589G|PDE1C_uc003tcs.3_Silent_p.G589G	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	589					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGGAGTTTTTCCCACGAGGGT	0.458000														99			11		0	0	0.000308642	0	0
DNAH5	1767	broad.mit.edu	37	5	13841988	13841988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:13841988G>A	uc003jfd.2	-	32	5339	c.5297C>T	c.(5296-5298)tCc>tTc	p.S1766F		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1766	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTCTTGAGAGGAAATTGACAG	0.333000									Kartagener syndrome					38			49		0	0	0.000781405	0	0
ZNF80	7634	broad.mit.edu	37	3	113955375	113955375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:113955375G>A	uc010hqo.3	-	0	1051	c.547C>T	c.(547-549)Cac>Tac	p.H183Y	ZNF80_uc003ebf.3_Non-coding_Transcript	NM_007136	NP_009067	P51504	ZNF80_HUMAN	Homo sapiens zinc finger protein 80 (ZNF80), mRNA.	183						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TCTCCAGTGTGAATCTTCATG	0.493000														63			22		0	0	0.000586117	0	0
DYNC1H1	1778	broad.mit.edu	37	14	102453932	102453932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:102453932C>T	uc001yks.2	+	8	2845	c.2681C>T	c.(2680-2682)tCc>tTc	p.S894F		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	894	Stem (By similarity).				G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CACTCCTATTCCAATTTGCCC	0.428000														28			14		0	0	0.000958276	0	0
OR2A2	442361	broad.mit.edu	37	7	143807311	143807311	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:143807311G>A	uc011ktz.2	+	0	636	c.636G>A	c.(634-636)ttG>ttA	p.L212L		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CTCTTTCCTTGATTCTGGTCT	0.527000														28			39		0	0	0.000680045	0	0
MYF5	4617	broad.mit.edu	37	12	81112169	81112169	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:81112169G>A	uc001szg.2	+	1	669	c.534G>A	c.(532-534)aaG>aaA	p.K178K		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	178					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GGTCCAGAAAGAGCAGTACTT	0.398000														102			24		0	0	0.00178596	0	0
TSSC1	7260	broad.mit.edu	37	2	3341912	3341912	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:3341912G>A	uc002qxj.2	-	2	328	c.135C>T	c.(133-135)atC>atT	p.I45I		NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN	Homo sapiens tumor suppressing subtransferable candidate 1 (TSSC1), mRNA.	45							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CAAAATCTATGATATGGATCT	0.388000														37			6		0	0	0.000157383	0	0
P2RX6	9127	broad.mit.edu	37	22	21377300	21377300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:21377300C>T	uc010gsu.1	+	4	533	c.533C>T	c.(532-534)cCc>cTc	p.P178L	P2RX6_uc002ztz.2_Missense_Mutation_p.P152L|P2RX6_uc002zua.2_Non-coding_Transcript|P2RX6_uc002zuc.1_Non-coding_Transcript	NM_005446	NP_005437	O15547	P2RX6_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 6 (P2RX6), transcript variant 1, mRNA.	178					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										AGTTGGTGCCCCGTGGAGAGT	0.577000														31			22		0	0	0.000720815	0	0
GJB4	127534	broad.mit.edu	37	1	35227593	35227593	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:35227593G>A	uc001bxw.4	+	0	738	c.738G>A	c.(736-738)gaG>gaA	p.E246E	GJB4_uc001bxv.1_Silent_p.E246E	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.	246					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)				GGCACCCTGAGGATGGGAACT	0.617000														16			8		0	0	0.000157383	0	0
FSD2	123722	broad.mit.edu	37	15	83456026	83456026	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:83456026C>T	uc002bjd.2	-	1	284	c.117G>A	c.(115-117)gaG>gaA	p.E39E	FSD2_uc010uol.1_Silent_p.E39E|FSD2_uc010uom.1_Silent_p.E39E	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	39										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TCCTAGTGTTCTCTTCTGGAA	0.498000														106			15		0	0	0.000566183	0	0
abParts	0	broad.mit.edu	37	14	106926339	106926339	+	RNA	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:106926339G>A	uc021ser.1	-	325		c.11529C>T								Parts of antibodies, mostly variable regions.																		ACTAATAAGAGAGACCCACTC	0.517000														35			10		0	0	0.00136819	0	0
SBNO2	22904	broad.mit.edu	37	19	1127726	1127726	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:1127726G>A	uc002lrk.4	-	4	556	c.318C>T	c.(316-318)atC>atT	p.I106I	SBNO2_uc002lrj.4_Silent_p.I49I|SBNO2_uc010dse.3_Silent_p.I99I|SBNO2_uc010dsf.3_Silent_p.I49I	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	106					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|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)		ACGAGGAGAAGATGGAGATGT	0.607000														25			9		0	0	0.000442599	0	0
COL5A1	1289	broad.mit.edu	37	9	137622280	137622280	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:137622280G>A	uc004cfe.3	+	6	1505	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	375	Nonhelical 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)		CGCTGGGGCCGAAATTCCCAC	0.617000														8			10		0	0	0.000673444	0	0
PAK7	57144	broad.mit.edu	37	20	9561213	9561213	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:9561213G>A	uc002wnl.2	-	4	1114	c.569C>T	c.(568-570)tCc>tTc	p.S190F	PAK7_uc002wnk.2_Missense_Mutation_p.S190F|PAK7_uc002wnj.2_Missense_Mutation_p.S190F|PAK7_uc010gby.1_Missense_Mutation_p.S190F	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	190	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GGCAAAATCGGATTTCAAAGG	0.473000														46			23		0	0	0.00047179	0	0
USH2A	7399	broad.mit.edu	37	1	216373131	216373131	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:216373131C>T	uc001hku.1	-	16	4036	c.3649G>A	c.(3649-3651)Gat>Aat	p.D1217N	USH2A_uc001hkv.3_Missense_Mutation_p.D1217N	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1217	Fibronectin type-III 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.D1217N(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ACAGAAAAATCGTACTTGGCA	0.517000										HNSCC(13;0.011)				24			8		0	0	0.000274275	0	0
SERGEF	26297	broad.mit.edu	37	11	17809777	17809777	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:17809777T>A	uc001mnm.3	-	10	1312	c.1232A>T	c.(1231-1233)gAc>gTc	p.D411V	SERGEF_uc009yhd.3_Non-coding_Transcript|SERGEF_uc001mnn.3_3'UTR	NM_012139	NP_036271	Q9UGK8	SRGEF_HUMAN	Homo sapiens secretion regulating guanine nucleotide exchange factor (SERGEF), mRNA.	411					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	Ran guanyl-nucleotide exchange factor activity|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						GACCTTGGGGTCCTGGACCAA	0.562000														30			7		0	0	0.000157383	0	0
ZNF701	55762	broad.mit.edu	37	19	53085911	53085911	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:53085911C>T	uc010ydn.2	+	4	860	c.797C>T	c.(796-798)tCa>tTa	p.S266L	ZNF701_uc002pzs.2_Missense_Mutation_p.S200L|ZNF701_uc021uyw.1_Missense_Mutation_p.S266L	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		CTCCAGTCTTCATTACTCACA	0.373000														59			11		0	0	0.00136819	0	0
CX3CR1	1524	broad.mit.edu	37	3	39307743	39307743	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:39307743G>A	uc021wwc.1	-	1	394	c.354C>T	c.(352-354)ttC>ttT	p.F118F	CX3CR1_uc021wwa.1_Silent_p.F86F|CX3CR1_uc021wwb.1_Silent_p.F86F|CX3CR1_uc003cjl.3_Silent_p.F86F|CX3CR1_uc021wwd.1_Silent_p.F86F	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	86					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		AGTGAGTCCAGAAGGGCAAAG	0.463000														35			8		0	0	0.000274275	0	0
ALS2CR8	79800	broad.mit.edu	37	2	203836423	203836424	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:203836423_203836424GG>TT	uc002uzo.2	+	10	1573_1574	c.1293_1294GG>TT	c.(1291-1296)caggga>caTTga	p.431_432QG>H*	ALS2CR8_uc010zhz.1_Non-coding_Transcript|ALS2CR8_uc010ftu.1_Non-coding_Transcript|ALS2CR8_uc010zia.1_Nonsense_Mutation_p.355_356QG>H*|ALS2CR8_uc010zib.1_Nonsense_Mutation_p.355_356QG>H*|ALS2CR8_uc010zic.1_Nonsense_Mutation_p.343_344QG>H*|ALS2CR8_uc002uzp.2_Nonsense_Mutation_p.431_432QG>H*	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	431										breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						TAGTATCACAGGGAATAGAACA	0.347000														360			15		0	0	6.4e-05	0	0
AVPR1B	553	broad.mit.edu	37	1	206224443	206224445	+	Missense_Mutation	DNP	GA	AT	AT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:206224443_206224445GA>AT	uc001hds.2	+	0	161_163	c.3_5GA>AT	c.(1-6)atggat>atATt	p.1_2MD>I		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	1					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCTTGCTCATGGATTCTGGGCCT	0.601000														112			42		0	0	6.4e-05	0	0
OR11G2	390439	broad.mit.edu	37	14	20665543	20665543	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:20665543C>T	uc010tlb.2	+	0	49	c.49C>T	c.(49-51)Cta>Tta	p.L17L		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GATTCCCCATCTATGTTTGCA	0.343000														10			6		0	0	0.000442599	0	0
KIF13A	63971	broad.mit.edu	37	6	17794897	17794897	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:17794897G>A	uc003ncg.4	-	23	3141	c.2981C>T	c.(2980-2982)tCc>tTc	p.S994F	KIF13A_uc003ncf.3_Missense_Mutation_p.S994F|KIF13A_uc003nch.4_Missense_Mutation_p.S994F|KIF13A_uc003nci.4_Missense_Mutation_p.S994F	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	994					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTCTAATATGGAGATCCACAT	0.418000														61			17		0	0	0.000422831	0	0
TRIM14	9830	broad.mit.edu	37	9	100857249	100857249	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:100857249G>A	uc004ayd.2	-	3	618	c.600C>T	c.(598-600)ccC>ccT	p.P200P	TRIM14_uc011luz.1_5'Flank|TRIM14_uc011lva.1_5'Flank|TRIM14_uc004ayg.1_Silent_p.P200P|TRIM14_uc004ayh.1_Silent_p.P200P	NM_033220	NP_150089	Q14142	TRI14_HUMAN	Homo sapiens tripartite motif containing 14 (TRIM14), transcript variant 3, mRNA.	200						cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				AGAGGGGCACGGGATGGCACA	0.597000														22			9		0	0	0.000442599	0	0
MED14	9282	broad.mit.edu	37	X	40534535	40534535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:40534535G>A	uc004dex.4	-	21	3099	c.2959C>T	c.(2959-2961)Cct>Tct	p.P987S		NM_004229	NP_004220	O60244	MED14_HUMAN	Homo sapiens mediator complex subunit 14 (MED14), mRNA.	987					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCCTATAGGAGAAGGGGGA	0.428000														22			10		0	0	0.000442599	0	0
CXCR5	643	broad.mit.edu	37	11	118764769	118764769	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:118764769C>T	uc001pue.4	+	1	692	c.516C>T	c.(514-516)acC>acT	p.T172T	CXCR5_uc001puf.3_Silent_p.T127T	NM_001716	NP_116743	P32302	CXCR5_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 5 (CXCR5), transcript variant 1, mRNA.	172					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		CCTGTGGGACCATCTGGCTGG	0.622000														22			7		0	0	0.00198382	0	0
DEPDC4	120863	broad.mit.edu	37	12	100660750	100660750	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:100660750G>A	uc009ztv.1	-	0	108	c.105C>T	c.(103-105)aaC>aaT	p.N35N	SCYL2_uc009ztw.1_5'Flank|SCYL2_uc001thm.1_5'Flank|SCYL2_uc001thn.3_5'Flank|DEPDC4_uc001thh.1_Non-coding_Transcript|DEPDC4_uc001thi.3_Silent_p.N35N|DEPDC4_uc001thj.1_Silent_p.N35N|DEPDC4_uc001thk.1_5'UTR|DEPDC4_uc001thl.1_Non-coding_Transcript	NM_152317	NP_689530	Q8N2C3	DEPD4_HUMAN	Homo sapiens DEP domain containing 4 (DEPDC4), mRNA.	35					intracellular signal transduction			p.L34L(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						AACTTGGCCCGTTCAGCCCTG	0.587000														53			19		0	0	0.00278032	0	0
SERPINA11	256394	broad.mit.edu	37	14	94909110	94909110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:94909110C>T	uc001ydd.1	-	4	1162	c.1102G>A	c.(1102-1104)Ggg>Agg	p.G368R		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	368					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GCCTCGGTCCCCTTCTCACTC	0.567000														13			9		0	0	0.00136819	0	0
WBSCR17	64409	broad.mit.edu	37	7	70886063	70886063	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:70886063G>A	uc003tvy.3	+	4	934	c.934G>A	c.(934-936)Gac>Aac	p.D312N	WBSCR17_uc003tvz.3_Missense_Mutation_p.D11N	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	312						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.D312D(2)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AGACTGGTGGGACGCCGGAGA	0.592000														26			9		0	0	0.000274275	0	0
LRRC7	57554	broad.mit.edu	37	1	70505212	70505212	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:70505212G>A	uc001dep.3	+	18	3621	c.3591G>A	c.(3589-3591)agG>agA	p.R1197R	LRRC7_uc009wbg.3_Silent_p.R481R|LRRC7_uc001deq.3_Silent_p.R438R	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1197						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TTACCCAAAGGAGGCCATTGT	0.468000														20			4		0	0	0.00024832	0	0
ABCB11	8647	broad.mit.edu	37	2	169874614	169874614	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:169874614G>A	uc002ueo.1	-	1	148	c.22C>T	c.(22-24)Cga>Tga	p.R8*		NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	8					bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TTTATACTTCGAAGAATTACT	0.358000														44			25		0	0	0.000720815	0	0
SAMD9	54809	broad.mit.edu	37	7	92734725	92734725	+	Missense_Mutation	SNP	G	A	A	rs147146654		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:92734725G>A	uc003umf.3	-	2	956	c.686C>T	c.(685-687)tCa>tTa	p.S229L	SAMD9_uc003umg.3_Missense_Mutation_p.S229L|SAMD9_uc022ahg.1_Missense_Mutation_p.S229L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	229						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)			ATTGGTACGTGAATTCATACA	0.403000														159			34		0	0	0.00058488	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39085744	39085744	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:39085744C>T	uc004abi.3	-	20	3670	c.3431G>A	c.(3430-3432)gGa>gAa	p.G1144E	CNTNAP3_uc004abj.3_Missense_Mutation_p.G1063E|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_3'UTR	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	1144	Laminin G-like 4.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TAAAACCTTTCCCAATATGAG	0.408000														76			29		0	0	0.001512	0	0
TXNDC16	57544	broad.mit.edu	37	14	52955155	52955155	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:52955155G>A	uc001wzs.3	-	11	1483	c.1034C>T	c.(1033-1035)tCt>tTt	p.S345F	TXNDC16_uc010tqu.2_Missense_Mutation_p.S340F|TXNDC16_uc010aoe.3_Non-coding_Transcript	NM_020784	NP_065835	Q9P2K2	TXD16_HUMAN	Homo sapiens thioredoxin domain containing 16 (TXNDC16), transcript variant 1, mRNA.	345					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TTCCACATGAGATATTATTAA	0.299000														27			6		0	0	0.00116845	0	0
C2orf78	388960	broad.mit.edu	37	2	74041042	74041042	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:74041042C>T	uc002sjr.1	+	1	657	c.536C>T	c.(535-537)cCa>cTa	p.P179L		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	179										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						CCTCTGTATCCATCACTATCT	0.453000														12			8		0	0	0.000157383	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19412039	19412039	+	RNA	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:19412039T>C	uc010tcj.1	-	0		c.34071A>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		CTTGATGAAGTTGTTCATCAC	0.423000														24			7		0	0	0.000157383	0	0
IL16	3603	broad.mit.edu	37	15	81592017	81592017	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:81592017C>T	uc021ssh.1	+	12	2451	c.2350C>T	c.(2350-2352)Cct>Tct	p.P784S	IL16_uc010blq.1_Missense_Mutation_p.P738S|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Missense_Mutation_p.P826S|IL16_uc002bgg.3_Missense_Mutation_p.P784S|IL16_uc002bgi.1_Missense_Mutation_p.P174S|IL16_uc002bgj.3_Missense_Mutation_p.P278S|IL16_uc021ssi.1_Missense_Mutation_p.P83S|IL16_uc002bgl.1_Missense_Mutation_p.P83S|IL16_uc010unq.1_Missense_Mutation_p.P83S	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	784					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GAAAGGTCCTCCTGTGGCTCC	0.567000														41			15		0	0	0.000566183	0	0
PTPRC	5788	broad.mit.edu	37	1	198665938	198665938	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:198665938A>T	uc001gur.1	+	3	372	c.192A>T	c.(190-192)gaA>gaT	p.E64D	PTPRC_uc001gut.1_Intron|PTPRC_uc009wze.1_Intron|PTPRC_uc009wzf.1_Intron|PTPRC_uc021pgy.1_Missense_Mutation_p.E66D|PTPRC_uc010ppg.1_Intron|PTPRC_uc001guu.1_Missense_Mutation_p.E107D|PTPRC_uc001guv.1_Intron|PTPRC_uc001guw.1_Intron	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	64					B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TTGAAAGAGAAAATGACTTCT	0.458000														72			14		0	0	0.00185496	0	0
CUL2	8453	broad.mit.edu	37	10	35333706	35333707	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:35333706_35333707GG>AA	uc010qer.2	-	6	757_758	c.653_654CC>TT	c.(652-654)ccc>cTT	p.P218L	CUL2_uc021ppa.1_Missense_Mutation_p.P212L|CUL2_uc009xma.3_Missense_Mutation_p.P68L|CUL2_uc001ixv.3_Missense_Mutation_p.P199L|CUL2_uc001ixw.3_Missense_Mutation_p.P199L|CUL2_uc010qes.2_Missense_Mutation_p.P136L	NM_001198778	NP_001185707	Q13617	CUL2_HUMAN	Homo sapiens cullin 2 (CUL2), transcript variant 1, mRNA.	199					G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TTACCTTTAAGGGGAATTTTTT	0.322000														55			11		0	0	6.4e-05	0	0
NLRP9	338321	broad.mit.edu	37	19	56244618	56244618	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:56244618G>A	uc002qly.3	-	1	607	c.579C>T	c.(577-579)atC>atT	p.I193I		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	193	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TGGTCTCTGCGATACCGTTCA	0.458000														35			5		0	0	0.00198382	0	0
EXOSC8	11340	broad.mit.edu	37	13	37581124	37581124	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:37581124C>T	uc001uwa.3	+	7	668	c.403C>T	c.(403-405)Cta>Tta	p.L135L	EXOSC8_uc001uvz.2_Non-coding_Transcript	NM_181503	NP_852480	Q96B26	EXOS8_HUMAN	Homo sapiens exosome component 8 (EXOSC8), mRNA.	135					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		TGTCTGGGTTCTATACTGTGA	0.378000														46			20		0	0	0.00229938	0	0
STAP1	26228	broad.mit.edu	37	4	68459022	68459022	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:68459022G>A	uc003hde.4	+	7	856	c.774G>A	c.(772-774)aaG>aaA	p.K258K	STAP1_uc003hdf.3_Silent_p.K258K	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA.	258	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						ATTTTGTGAAGGAGACTCGAG	0.338000														87			16		0	0	0.00074312	0	0
NPAS3	64067	broad.mit.edu	37	14	33836458	33836458	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:33836458G>A	uc001wru.3	+	3	516	c.452G>A	c.(451-453)gGa>gAa	p.G151E	NPAS3_uc001wrs.3_Missense_Mutation_p.G138E|NPAS3_uc001wrv.3_Missense_Mutation_p.G121E|NPAS3_uc001wrt.3_Missense_Mutation_p.G119E|NPAS3_uc001wrw.3_Missense_Mutation_p.G49E	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	151	PAS 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GCACATTTGGGAAGCCACATT	0.313000														13			7		0	0	0.000274275	0	0
FAM83C	128876	broad.mit.edu	37	20	33876305	33876305	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:33876305G>C	uc021wck.1	-	2	883	c.765C>G	c.(763-765)ttC>ttG	p.F255L	FAM83C_uc002xcb.1_Splice_Site_p.F79_splice	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	255										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAATGAGGACGAACTTCTCCA	0.627000														47			10		0	0	0.00244969	0	0
PRSS37	136242	broad.mit.edu	37	7	141536973	141536973	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:141536973C>T	uc003vws.2	-	3	878	c.506G>A	c.(505-507)gGa>gAa	p.G169E	PRSS37_uc011krl.2_Missense_Mutation_p.G168E|PRSS37_uc011krk.2_Missense_Mutation_p.G156E|PRSS37_uc003vwt.2_Missense_Mutation_p.G156E	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA.	169	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						GTGGCTTTTTCCTTGTTCTGT	0.433000														84			12		0	0	0.000978159	0	0
OR5P2	120065	broad.mit.edu	37	11	7818247	7818247	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:7818247G>A	uc001mfp.1	-	0	243	c.243C>T	c.(241-243)ttC>ttT	p.F81F		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCTCCACCAGGAAGTTTACAA	0.483000														48			17		0	0	0.000958276	0	0
SYNRG	11276	broad.mit.edu	37	17	35913243	35913243	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:35913243A>G	uc002hoa.3	-	13	2665	c.2582T>C	c.(2581-2583)gTt>gCt	p.V861A	SYNRG_uc010wde.2_Missense_Mutation_p.V783A|SYNRG_uc010wdf.2_Missense_Mutation_p.V783A|SYNRG_uc002hoc.3_Missense_Mutation_p.V782A|SYNRG_uc002hoe.3_Missense_Mutation_p.V783A|SYNRG_uc002hod.3_Missense_Mutation_p.V783A|SYNRG_uc010wdg.2_Missense_Mutation_p.V700A|SYNRG_uc002hob.3_Missense_Mutation_p.V861A|SYNRG_uc002hof.3_Missense_Mutation_p.V573A|SYNRG_uc010cvd.1_Missense_Mutation_p.V661A	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	861					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTGGCCACTAACTGTTGGTAA	0.443000														44			9		0	0	0.000442599	0	0
C6orf203	51250	broad.mit.edu	37	6	107365516	107365516	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:107365516T>G	uc011eaj.2	+	3	1213	c.538T>G	c.(538-540)Tta>Gta	p.L180V	C6orf203_uc003prq.3_Missense_Mutation_p.L175V|C6orf203_uc010kde.3_Missense_Mutation_p.L175V	NM_001142470	NP_057571	Q9P0P8	CF203_HUMAN	Homo sapiens chromosome 6 open reading frame 203 (C6orf203), transcript variant 3, mRNA.	175								p.S179R(1)		large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		TGAGGAAAAATTATGGAAGAA	0.373000														65			22		0	0	0.000586117	0	0
MAPK14	1432	broad.mit.edu	37	6	36027100	36027100	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:36027100G>A	uc003olq.3	+	2	762	c.281G>A	c.(280-282)aGg>aAg	p.R94K	MAPK14_uc011dth.2_Missense_Mutation_p.R94K|MAPK14_uc003olo.3_Missense_Mutation_p.R94K|MAPK14_uc003olp.3_Missense_Mutation_p.R94K|MAPK14_uc003olr.3_Missense_Mutation_p.R94K|MAPK14_uc011dti.2_Missense_Mutation_p.R17K	NM_139012	NP_620581	Q16539	MK14_HUMAN	Homo sapiens mitogen-activated protein kinase 14 (MAPK14), transcript variant 2, mRNA.	94	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|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding	p.A93A(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						ACACCTGCAAGGTCTCTGGAG	0.343000														90			37		0	0	0.000680045	0	0
ANGPT2	285	broad.mit.edu	37	8	6420387	6420387	+	Silent	SNP	C	T	T	rs147566463		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:6420387C>T	uc003wqj.4	-	0	398	c.69G>A	c.(67-69)cgG>cgA	p.R23R	MCPH1_uc003wqi.3_Intron|ANGPT2_uc003wqk.4_Silent_p.R23R|ANGPT2_uc010lri.3_Silent_p.R23R|ANGPT2_uc003wql.4_Silent_p.R23R	NM_001147	NP_001138	O15123	ANGP2_HUMAN	Homo sapiens angiopoietin 2 (ANGPT2), transcript variant 1, mRNA.	23					Tie receptor signaling pathway|angiogenesis|blood coagulation|leukocyte migration|negative regulation of blood vessel endothelial cell migration|negative regulation of positive chemotaxis	extracellular space	metal ion binding|receptor tyrosine kinase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		CCATGCTCTTCCGAAAGTTGT	0.473000														39			7		0	0	0.00198382	0	0
CEP104	9731	broad.mit.edu	37	1	3755581	3755581	+	Missense_Mutation	SNP	G	A	A	rs139901107		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:3755581G>A	uc001aky.2	-	7	1197	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C	CEP104_uc010nzm.1_Non-coding_Transcript|CEP104_uc001akz.3_Missense_Mutation_p.R280C	NM_014704	NP_055519	O60308	CE104_HUMAN	Homo sapiens centrosomal protein 104kDa (CEP104), mRNA.	280						centriole	binding	p.R280C(2)		breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						ACCTCGGCACGATACTGCTCC	0.587000														64			14		0	0	0.000308642	0	0
ATXN10	25814	broad.mit.edu	37	22	46085626	46085626	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:46085626C>A	uc003bgm.2	+	1	417	c.151C>A	c.(151-153)Ctg>Atg	p.L51M	ATXN10_uc011aqt.2_Intron|ATXN10_uc003bgn.2_5'UTR	NM_013236	NP_037368	Q9UBB4	ATX10_HUMAN	Homo sapiens ataxin 10 (ATXN10), transcript variant 1, mRNA.	51					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm		p.L51M(2)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		CCAAAGAGTTCTGGATATCCT	0.388000														47			15		4.14922e-12	1.40231e-11	0.000422831	1	0
PTGS1	5742	broad.mit.edu	37	9	125154756	125154756	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:125154756C>T	uc004bmg.1	+	10	1868	c.1733C>T	c.(1732-1734)tCc>tTc	p.S578F	PTGS1_uc011lys.1_Missense_Mutation_p.S516F|PTGS1_uc010mwb.1_Missense_Mutation_p.S432F|PTGS1_uc004bmf.1_Missense_Mutation_p.S541F|PTGS1_uc004bmh.1_Missense_Mutation_p.S469F|PTGS1_uc011lyt.1_Missense_Mutation_p.S469F	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	578					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	Golgi apparatus|endoplasmic reticulum membrane|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)|gamma-Homolinolenic acid(DB00154)	CCCTACGTTTCCTTCCGTGTG	0.582000														28			19		0	0	0.000958276	0	0
ABHD5	51099	broad.mit.edu	37	3	43744062	43744062	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:43744062G>A	uc003cmx.3	+	2	599	c.489G>A	c.(487-489)tcG>tcA	p.S163S		NM_016006	NP_057090	Q8WTS1	ABHD5_HUMAN	Homo sapiens abhydrolase domain containing 5 (ABHD5), mRNA.	163					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		CTGCTTACTCGCTGAAGTACC	0.463000														60			34		0	0	0.00111076	0	0
SNX8	29886	broad.mit.edu	37	7	2304088	2304088	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:2304088G>A	uc003slw.3	-	5	670	c.627C>T	c.(625-627)ttC>ttT	p.F209F		NM_013321	NP_037453	Q9Y5X2	SNX8_HUMAN	Homo sapiens sorting nexin 8 (SNX8), mRNA.	209					cell communication|early endosome to Golgi transport|intracellular protein transport	early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(2)|skin(3)	26		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0853)|OV - Ovarian serous cystadenocarcinoma(56;3.79e-14)		CAGCTGGGAGGAAGTCCTGAC	0.602000														20			5		0	0	0.000602214	0	0
DHX40	79665	broad.mit.edu	37	17	57676818	57676818	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:57676818C>T	uc002ixn.2	+	13	1927	c.1780C>T	c.(1780-1782)Cga>Tga	p.R594*	DHX40_uc010woe.2_Nonsense_Mutation_p.R517*|DHX40_uc010wof.2_Nonsense_Mutation_p.R109*	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.	594							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AGCTCAACTTCGAGAACTAAT	0.378000														162			13		0	0	0.00229938	0	0
SYMPK	8189	broad.mit.edu	37	19	46345590	46345590	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:46345590G>A	uc002pdn.3	-	8	1250	c.1005C>T	c.(1003-1005)atC>atT	p.I335I	SYMPK_uc002pdo.1_Silent_p.I335I|SYMPK_uc002pdp.1_Silent_p.I335I|SYMPK_uc002pdq.2_Silent_p.I335I	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	335					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TGTTGCGGGCGATCTCGGCCT	0.637000														30			7		0	0	0.000274275	0	0
SCN3A	6328	broad.mit.edu	37	2	166011076	166011076	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:166011076C>T	uc002ucx.3	-	10	1758	c.1266G>A	c.(1264-1266)gtG>gtA	p.V422V	SCN3A_uc002ucy.3_Silent_p.V422V|SCN3A_uc002ucz.3_Silent_p.V422V|SCN3A_uc002uda.1_Silent_p.V291V|SCN3A_uc002udb.1_Silent_p.V291V	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	422						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CCATGGCCACCACAGCCAGGA	0.448000														48			14		0	0	0.00185496	0	0
ARHGAP27	201176	broad.mit.edu	37	17	43473413	43473413	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:43473413G>A	uc002iix.3	-	14	1748	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	ARHGAP27_uc010dak.3_Silent_p.F406F	NM_199282	NP_954976	Q6ZUM4	RHG27_HUMAN	Homo sapiens Rho GTPase activating protein 27 (ARHGAP27), transcript variant 1, mRNA.	774	WW 3.				positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					GCTCCCGAAAGAAGAGCTTCA	0.647000														16			11		0	0	0.000978159	0	0
HOMER2	9455	broad.mit.edu	37	15	83527798	83527798	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:83527798C>T	uc002bjg.3	-	4	699	c.510G>A	c.(508-510)aaG>aaA	p.K170K	HOMER2_uc002bjh.3_Silent_p.K159K	NM_199330	NP_955362	Q9NSB8	HOME2_HUMAN	Homo sapiens homer homolog 2 (Drosophila) (HOMER2), transcript variant 2, mRNA.	170					metabotropic glutamate receptor signaling pathway	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				cervix(1)|endometrium(2)|lung(6)	9						TCAAGGCAATCTTCAGCTTGT	0.502000														57			17		0	0	0.00121646	0	0
CYP7A1	1581	broad.mit.edu	37	8	59404192	59404192	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:59404192C>T	uc003xtm.4	-	5	1420	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	453					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TGCTTGATTTCGTGGATAGCG	0.413000									Neonatal Giant Cell Hepatitis					131			28		0	0	0.000692331	0	0
MCM3	4172	broad.mit.edu	37	6	52144289	52144289	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:52144289G>A	uc003pan.1	-	4	750	c.640C>T	c.(640-642)Ccc>Tcc	p.P214S	MCM3_uc011dwu.1_Missense_Mutation_p.P168S	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	214					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|alpha DNA polymerase:primase complex|centrosome|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.L213_P214>LS(2)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					ACAGAGCGGGGGAGCTGGCCG	0.562000														94			13		0	0	0.00136819	0	0
DNAH7	56171	broad.mit.edu	37	2	196825552	196825552	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:196825552C>T	uc002utj.4	-	17	2424	c.2323G>A	c.(2323-2325)Gaa>Aaa	p.E775K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	775	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTGCTAAATTCGACAGCAGTT	0.393000														87			40		0	0	0.00170553	0	0
OR7A17	26333	broad.mit.edu	37	19	14991789	14991789	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:14991789A>C	uc010xob.2	-	0	379	c.379T>G	c.(379-381)Tgt>Ggt	p.C127G		NM_030901	NP_112163	O14581	OR7AH_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					AGAGGATGACAGATGGCCACA	0.502000														31			8		0	0	0.000157383	0	0
AKAP9	10142	broad.mit.edu	37	7	91695830	91695830	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:91695830C>T	uc003ulg.3	+	25	6525	c.6300C>T	c.(6298-6300)ttC>ttT	p.F2100F	AKAP9_uc003ulf.3_Silent_p.F2100F|AKAP9_uc003uli.3_Silent_p.F1723F	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2112	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTCCTCGATTCCAGCCTATCA	0.363000			T	BRAF	papillary thyroid									104			13		0	0	0.000308642	0	0
PCM1	5108	broad.mit.edu	37	8	17871517	17871517	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:17871517C>T	uc022asj.1	+	33	5695	c.5673C>T	c.(5671-5673)gtC>gtT	p.V1891V	PCM1_uc003wyi.4_Silent_p.V1852V|PCM1_uc011kyh.2_Silent_p.V1844V|PCM1_uc003wyj.4_Intron|PCM1_uc011kyi.2_Silent_p.V651V|PCM1_uc011kyj.2_Silent_p.V608V|PCM1_uc003wyk.4_Silent_p.V534V|PCM1_uc011kyk.2_Silent_p.V468V	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	1852					G2/M transition of mitotic cell cycle|centrosome organization|cilium assembly|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	p.E1890D(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GCAAAAATGTCCCATTGGAAC	0.303000			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""									38			5		0	0	0.00198382	0	0
RIOK3	8780	broad.mit.edu	37	18	21044193	21044193	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:21044193C>T	uc002kui.4	+	3	966	c.349C>T	c.(349-351)Cga>Tga	p.R117*	RIOK3_uc010dls.3_Nonsense_Mutation_p.R117*|RIOK3_uc010xas.2_Nonsense_Mutation_p.R101*|RIOK3_uc010xat.2_5'Flank	NM_003831	NP_003822	O14730	RIOK3_HUMAN	Homo sapiens RIO kinase 3 (yeast) (RIOK3), mRNA.	117					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGAAAATTATCGAAAAGTGCA	0.383000														60			10		0	0	0.000978159	0	0
SPEN	23013	broad.mit.edu	37	1	16262634	16262634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:16262634G>A	uc001axk.1	+	10	10103	c.9899G>A	c.(9898-9900)gGg>gAg	p.G3300E	SPEN_uc010obp.1_Missense_Mutation_p.G3259E	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	3300	Pro-rich.				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)		CACTCCAGCGGGGAGCTGTTT	0.627000														25			10		0	0	0.000673444	0	0
OASL	8638	broad.mit.edu	37	12	121458759	121458759	+	Missense_Mutation	SNP	G	A	A	rs139160700	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:121458759G>A	uc001tzj.1	-	5	1156	c.1150C>T	c.(1150-1152)Cgg>Tgg	p.R384W	OASL_uc001tzk.1_3'UTR	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	384	Ubiquitin-like 1.				interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CTGGTCCTCCGGATTTTCTCT	0.542000														98			38		0	0	0.00128727	0	0
POLE	5426	broad.mit.edu	37	12	133252321	133252321	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:133252321C>T	uc001uks.1	-	11	1150	c.1106_splice	c.e11+1	p.W369_splice	POLE_uc010tbq.1_Splice_Site|POLE_uc009zyu.1_Splice_Site_p.W342_splice	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	369					DNA synthesis involved in DNA repair|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|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		ACAGACTCACCAGTCAAAAAA	0.542000								DNA polymerases (catalytic subunits)						60			17		0	0	0.000958276	0	0
KIF14	9928	broad.mit.edu	37	1	200584717	200584717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:200584717G>A	uc010ppk.1	-	2	1572	c.1133C>T	c.(1132-1134)tCc>tTc	p.S378F	KIF14_uc010ppj.1_5'UTR	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	378	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						GACTACCTGGGATGCTTTTTC	0.323000														61			9		0	0	0.000442599	0	0
SPATA16	83893	broad.mit.edu	37	3	172835519	172835519	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:172835519C>T	uc003fin.4	-	1	187	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	1					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TTCCTGCATCCATCGATCCTG	0.393000														22			22		0	0	0.00278032	0	0
TTPA	7274	broad.mit.edu	37	8	63976871	63976871	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:63976871G>A	uc003xux.2	-	3	589	c.557C>T	c.(556-558)tCa>tTa	p.S186L		NM_000370	NP_000361	P49638	TTPA_HUMAN	Homo sapiens tocopherol (alpha) transfer protein (TTPA), mRNA.	186	CRAL-TRIO.				lipid metabolic process		transporter activity|vitamin E binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	CAATGGAAATGAATCCTTTTG	0.299000														72			7		0	0	0.00198382	0	0
IL2RB	3560	broad.mit.edu	37	22	37524624	37524624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:37524624C>T	uc003aqv.1	-	9	1299	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	390					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)	TCAGGGTCTTCCTCTGAGTAG	0.607000														28			11		0	0	0.00136819	0	0
TNC	3371	broad.mit.edu	37	9	117826273	117826273	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:117826273G>T	uc004bjj.4	-	11	3974	c.3562C>A	c.(3562-3564)Cca>Aca	p.P1188T	TNC_uc010mvf.3_Missense_Mutation_p.P1188T|TNC_uc022bmj.1_Intron	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1188	Fibronectin type-III 7.				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						GCCCCTTCTGGAGCAGTCCAG	0.552000														39			24		1.26454e-06	4.25474e-06	0.000878237	1	0
LRRK2	120892	broad.mit.edu	37	12	40681237	40681237	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:40681237G>A	uc001rmg.4	+	19	2706	c.2585G>A	c.(2584-2586)gGa>gAa	p.G862E	LRRK2_uc001rmh.1_Missense_Mutation_p.G484E	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	862					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGCAGCGATGGAAATTTTTCT	0.393000														26			5		0	0	0.000602214	0	0
ST6GAL2	84620	broad.mit.edu	37	2	107459876	107459876	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:107459876C>T	uc002tdq.3	-	1	677	c.558G>A	c.(556-558)ttG>ttA	p.L186L	ST6GAL2_uc002tdr.3_Silent_p.L186L|ST6GAL2_uc002tds.3_Silent_p.L186L	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	186					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			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						CGCCCTCCTCCAACACGTGGC	0.652000														24			13		0	0	0.00185496	0	0
DNAH2	146754	broad.mit.edu	37	17	7691218	7691218	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7691218C>T	uc002giu.1	+	41	6658	c.6644C>T	c.(6643-6645)tCt>tTt	p.S2215F		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2215	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCAATGGCCTCTCCGGCCACT	0.527000														44			8		0	0	0.000442599	0	0
ZFP112	7771	broad.mit.edu	37	19	44890982	44890982	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:44890982C>T	uc010xxa.2	-	3	1489	c.1446G>A	c.(1444-1446)caG>caA	p.Q482Q	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Silent_p.Q475Q	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	768					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						TGTGAACTCTCTGATGAGTGT	0.403000														23			9		0	0	0.000673444	0	0
C11orf65	160140	broad.mit.edu	37	11	108332209	108332209	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:108332209G>A	uc001pkh.3	-	1	148	c.78C>T	c.(76-78)ttC>ttT	p.F26F	C11orf65_uc010rvx.1_Silent_p.F26F|C11orf65_uc009yxu.2_Non-coding_Transcript	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN	Homo sapiens chromosome 11 open reading frame 65 (C11orf65), mRNA.	26										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		AACTCACAAGGAAACTTTTCC	0.303000														216			50		0	0	0.000781405	0	0
SLC2A2	6514	broad.mit.edu	37	3	170723244	170723244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:170723244C>T	uc003fhe.1	-	6	1102	c.793G>A	c.(793-795)Gga>Aga	p.G265R	SLC2A2_uc003fhf.1_Missense_Mutation_p.G92R|SLC2A2_uc011bpu.1_Missense_Mutation_p.G138R	NM_000340	NP_000331	P11168	GTR2_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 2 (SLC2A2), mRNA.	265					carbohydrate metabolic process|cellular lipid metabolic process|endocrine pancreas development|energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane|membrane fraction	D-glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(22;1.41e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TCATCATATCCTCTGAGTCTT	0.338000														26			4		0	0	0.00116845	0	0
ITPKB	3707	broad.mit.edu	37	1	226924800	226924800	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:226924800G>A	uc010pvo.2	-	1	700	c.360C>T	c.(358-360)tcC>tcT	p.S120S	ITPKB_uc001hqh.3_Silent_p.S120S	NM_002221	NP_002212	P27987	IP3KB_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase B (ITPKB), mRNA.	120							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCCCTGGCGGGGAGAGGGTAC	0.667000														20			15		0	0	0.000566183	0	0
EPHA7	2045	broad.mit.edu	37	6	94120510	94120510	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:94120510C>T	uc003poe.3	-	2	782	c.541G>A	c.(541-543)Gga>Aga	p.G181R	EPHA7_uc003pof.3_Missense_Mutation_p.G181R|EPHA7_uc011eac.2_Missense_Mutation_p.G181R|EPHA7_uc003pog.4_Missense_Mutation_p.G181R	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	181						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AGATAGAATCCCTTTTTGGAC	0.423000														19			18		0	0	0.00152264	0	0
PDGFC	56034	broad.mit.edu	37	4	157771520	157771521	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:157771520_157771521CC>TT	uc003iph.2	-	1	657_658	c.166_167GG>AA	c.(166-168)gga>AAa	p.G56K	PDGFC_uc003ipi.2_5'UTR|PDGFC_uc011cis.2_Intron|PDGFC_uc011cir.2_5'UTR	NM_016205	NP_057289	Q9NRA1	PDGFC_HUMAN	Homo sapiens platelet derived growth factor C (PDGFC), transcript variant 1, mRNA.	56	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of DNA replication|positive regulation of cell division|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	Golgi membrane|endoplasmic reticulum lumen|extracellular space|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		GTGAATACTTCCATTAGTAGAC	0.351000														23			9		0	0	6.4e-05	0	0
OR8A1	390275	broad.mit.edu	37	11	124440066	124440066	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:124440066A>C	uc010san.2	+	0	102	c.102A>C	c.(100-102)ttA>ttC	p.L34F		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TCAAGGGTTTAACGAAGAGAG	0.532000														24			5		0	0	0.00116845	0	0
AKAP9	10142	broad.mit.edu	37	7	91651636	91651636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:91651636C>T	uc003ulg.3	+	12	4147	c.3922C>T	c.(3922-3924)Cat>Tat	p.H1308Y	AKAP9_uc003ule.2_Missense_Mutation_p.H1320Y|AKAP9_uc003ulf.3_Missense_Mutation_p.H1308Y|AKAP9_uc003uli.3_Missense_Mutation_p.H933Y	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1320					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTTATCAATCCATTCTCAGAT	0.333000			T	BRAF	papillary thyroid									154			24		0	0	0.00106085	0	0
SULT1B1	27284	broad.mit.edu	37	4	70615461	70615461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:70615461G>A	uc003hen.3	-	3	651	c.353C>T	c.(352-354)tCt>tTt	p.S118F		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	118					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TTCCCAGAAAGATTTAGGAAG	0.368000														55			11		0	0	0.00136819	0	0
WDR59	79726	broad.mit.edu	37	16	74923603	74923603	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:74923603G>A	uc002fdh.1	-	20	2295	c.2193C>T	c.(2191-2193)tcC>tcT	p.S731S	WDR59_uc002fdf.1_Silent_p.S176S|WDR59_uc002fdg.1_Silent_p.S323S	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	731										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						AAACCTACAGGGACTCCAGCA	0.478000														23			9		0	0	0.000274275	0	0
FAM13C	220965	broad.mit.edu	37	10	61011317	61011317	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:61011317C>T	uc010qif.1	-	12	1784	c.1718G>A	c.(1717-1719)aGa>aAa	p.R573K	FAM13C_uc010qid.2_Intron|FAM13C_uc001jkn.3_Intron|FAM13C_uc001jko.3_Intron|FAM13C_uc010qie.2_Intron	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	0										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTTAAAAATCTCTCTGCCGA	0.368000														99			19		0	0	0.00278032	0	0
CCDC40	55036	broad.mit.edu	37	17	78058726	78058726	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:78058726G>A	uc010dht.3	+	12	2205	c.2174G>A	c.(2173-2175)aGg>aAg	p.R725K	CCDC40_uc021uem.1_Missense_Mutation_p.R725K|CCDC40_uc002jxm.4_Missense_Mutation_p.R508K|CCDC40_uc002jxn.4_Missense_Mutation_p.R121K	NM_017950	NP_060420	Q4G0X9	CCD40_HUMAN	Homo sapiens coiled-coil domain containing 40 (CCDC40), transcript variant 1, mRNA.	725					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CTGATCGAGAGGAAGCAAGGG	0.607000														21			12		0	0	0.00244969	0	0
GJB5	2709	broad.mit.edu	37	1	35223303	35223303	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:35223303G>A	uc001bxu.3	+	1	472	c.372G>A	c.(370-372)cgG>cgA	p.R124R	GJB5_uc021okz.1_Silent_p.R124R|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.	124					cell communication|epidermis development	connexon complex|integral to membrane		p.R124L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				GCAAGAAGCGGGGTGGGCTCT	0.572000														45			11		0	0	0.000422831	0	0
HMCN1	83872	broad.mit.edu	37	1	185902767	185902767	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:185902767G>A	uc001grq.1	+	10	1868	c.1639G>A	c.(1639-1641)Gtg>Atg	p.V547M		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	547	Ig-like C2-type 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CATCAGTGCGGTGGATTACAA	0.478000														33			9		0	0	0.000274275	0	0
MAP1B	4131	broad.mit.edu	37	5	71493356	71493356	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:71493356G>A	uc003kbw.4	+	4	4415	c.4174G>A	c.(4174-4176)Gaa>Aaa	p.E1392K	MAP1B_uc010iyw.1_Missense_Mutation_p.E1409K|MAP1B_uc010iyx.1_Missense_Mutation_p.E1266K|MAP1B_uc010iyy.1_Missense_Mutation_p.E1266K	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1392						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GTCTCCTATTGAAAAAGTTTT	0.478000														38			10		0	0	0.000442599	0	0
CELF4	56853	broad.mit.edu	37	18	35145400	35145400	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:35145400C>T	uc002lae.2	-	0	601	c.205G>A	c.(205-207)Gac>Aac	p.D69N	CELF4_uc021uix.1_Missense_Mutation_p.D69N|CELF4_uc021uiy.1_Missense_Mutation_p.D69N|CELF4_uc002lag.2_Missense_Mutation_p.D69N|CELF4_uc002laf.2_Missense_Mutation_p.D65N|CELF4_uc002lai.2_Missense_Mutation_p.D65N	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	69	RRM 1.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GGCTTGAGGTCCTTCTCATCC	0.542000														31			6		0	0	0.00116845	0	0
SOCS7	30837	broad.mit.edu	37	17	36522283	36522283	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:36522283C>T	uc002hqa.3	+	4	1295	c.1174C>T	c.(1174-1176)Ctt>Ttt	p.L392F	SOCS7_uc010cvl.3_Missense_Mutation_p.L358F|SOCS7_uc002hqb.3_Non-coding_Transcript	NM_014598	NP_055413	O14512	SOCS7_HUMAN	Homo sapiens suppressor of cytokine signaling 7 (SOCS7), mRNA.	392	Mediates interaction with SORBS3.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth	cytoplasm|nucleus|plasma membrane	SH3 domain binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|prostate(1)|skin(5)	9	Breast(7;3.47e-17)					TGCAGCCAGCCTTCGAGAGTT	0.537000														45			12		0	0	0.00185496	0	0
GFOD1	54438	broad.mit.edu	37	6	13365590	13365590	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:13365590G>A	uc003nat.2	-	1	1305	c.558C>T	c.(556-558)ttC>ttT	p.F186F	GFOD1_uc021ylt.1_Silent_p.F83F|GFOD1_uc003nas.2_Silent_p.F83F	NM_018988	NP_001229559	Q9NXC2	GFOD1_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 1 (GFOD1), transcript variant 1, mRNA.	186						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)			GGCCGGTGAGGAAGGTGAGCA	0.607000														28			8		0	0	0.000157383	0	0
ABCA13	154664	broad.mit.edu	37	7	48427452	48427452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:48427452C>T	uc003toq.2	+	35	11393	c.11369C>T	c.(11368-11370)cCc>cTc	p.P3790L	ABCA13_uc010kys.1_Missense_Mutation_p.P864L|ABCA13_uc003tos.1_Missense_Mutation_p.P616L|ABCA13_uc010kyt.1_Non-coding_Transcript	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3790					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGTATTTCCCCTTTACTGCC	0.318000														38			5		0	0	0.000602214	0	0
OR5D18	219438	broad.mit.edu	37	11	55587330	55587330	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:55587330C>T	uc010rin.2	+	0	225	c.225C>T	c.(223-225)tcC>tcT	p.S75S		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCTGCTATTCCTCCATCATTG	0.403000														109			24		0	0	0.000586117	0	0
ITIH5	80760	broad.mit.edu	37	10	7682777	7682777	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:7682777C>T	uc021pmv.1	-	3	447	c.341G>A	c.(340-342)aGa>aAa	p.R114K	ITIH5_uc001ijr.2_Missense_Mutation_p.R114K	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	114	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTTCTTTTCTCTCTCTGTAAT	0.373000														67			37		0	0	0.000680045	0	0
CHST15	51363	broad.mit.edu	37	10	125805243	125805243	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:125805243C>T	uc001lhn.3	-	1	1220	c.486G>A	c.(484-486)agG>agA	p.R162R	CHST15_uc001lhm.3_Silent_p.R162R|CHST15_uc010que.2_Silent_p.R162R|CHST15_uc001lho.3_Silent_p.R162R	NM_015892	NP_056976	Q7LFX5	CHSTF_HUMAN	Homo sapiens carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 (CHST15), transcript variant 1, mRNA.	162					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TGAACTCAATCCTAGTTGTGA	0.393000														233			14		0	0	0.00185496	0	0
ITGAD	3681	broad.mit.edu	37	16	31413511	31413511	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:31413511A>C	uc010cap.1	+	5	552	c.503A>C	c.(502-504)cAg>cCg	p.Q168P	ITGAD_uc010vfl.1_Missense_Mutation_p.Q168P|ITGAD_uc002ebv.1_Missense_Mutation_p.Q168P|ITGAD_uc002ebw.1_Intron	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	168	VWFA.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GACTTTAACCAGATGAAGGGC	0.562000														65			12		0	0	0.000308642	0	0
PRDM9	56979	broad.mit.edu	37	5	23527765	23527765	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:23527765G>A	uc003jgo.3	+	10	2750	c.2568G>A	c.(2566-2568)ggG>ggA	p.G856G		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	856					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.T855K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CACACACAGGGGAGAAGCCCT	0.587000										HNSCC(3;0.000094)				31			8		0	0	0.000442599	0	0
RNF133	168433	broad.mit.edu	37	7	122338481	122338481	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:122338481G>A	uc003vkj.1	-	0	728	c.492C>T	c.(490-492)ttC>ttT	p.F164F	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	Homo sapiens ring finger protein 133 (RNF133), mRNA.	164	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TAATTAAATGGAAAATTTCCG	0.423000														79			8		0	0	0.000442599	0	0
COL11A2	1302	broad.mit.edu	37	6	33136775	33136775	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:33136775C>T	uc003ocx.1	-	51	4037	c.3809G>A	c.(3808-3810)gGt>gAt	p.G1270D	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.G1184D|COL11A2_uc003ocz.1_Missense_Mutation_p.G1163D	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1270	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACCAGGAAAACCAACAGGACC	0.602000														54			7		0	0	0.000157383	0	0
LRRC30	339291	broad.mit.edu	37	18	7231711	7231711	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:7231711A>C	uc010wzk.2	+	0	575	c.575A>C	c.(574-576)cAc>cCc	p.H192P		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	192										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ATTTTCTTGCACGTGGGCTCG	0.542000														63			21		0	0	0.00188189	0	0
NAALAD2	10003	broad.mit.edu	37	11	89891372	89891372	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:89891372C>T	uc001pdf.4	+	6	965	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S	NAALAD2_uc009yvx.3_Missense_Mutation_p.P286S|NAALAD2_uc009yvy.3_Intron|NAALAD2_uc001pdd.2_Missense_Mutation_p.P286S|NAALAD2_uc001pde.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	286	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACCTGTACATCCCATTGGATA	0.299000														120			26		0	0	0.00178596	0	0
TSSC4	10078	broad.mit.edu	37	11	2423940	2423941	+	Missense_Mutation	DNP	CC	TT	TT	rs147689306		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:2423940_2423941CC>TT	uc021qcg.1	+	0	77_78	c.77_78CC>TT	c.(76-78)tcc>tTT	p.S26F	TSSC4_uc001lwi.3_Intron|TSSC4_uc001lwk.3_Missense_Mutation_p.S26F|TSSC4_uc001lwl.3_Missense_Mutation_p.S26F	NM_005706	NP_005697	Q9Y5U2	TSSC4_HUMAN	Homo sapiens tumor suppressing subtransferable candidate 4 (TSSC4), mRNA.	26										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACGCTGCCTTCCGACACAGTCT	0.653000														69			20		0	0	6.4e-05	0	0
COL9A1	1297	broad.mit.edu	37	6	70984465	70984465	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:70984465C>T	uc003pfg.4	-	10	1145	c.986G>A	c.(985-987)gGa>gAa	p.G329E	COL9A1_uc003pfe.4_5'UTR|COL9A1_uc003pff.4_Missense_Mutation_p.G86E	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	329	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCCATCAGGTCCTGTTAATCC	0.353000														18			19		0	0	0.00152264	0	0
BSN	8927	broad.mit.edu	37	3	49690793	49690793	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:49690793C>T	uc003cxe.4	+	4	3918	c.3804C>T	c.(3802-3804)gtC>gtT	p.V1268V		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1268					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGAGCATAGTCCGCATGCGGC	0.557000														28			6		0	0	0.00198382	0	0
VWC2L	402117	broad.mit.edu	37	2	215279197	215279197	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:215279197C>T	uc002vet.2	+	1	410	c.280C>T	c.(280-282)Cac>Tac	p.H94Y	VWC2L_uc010zjl.1_Missense_Mutation_p.H94Y	NM_001080500	NP_001073969	B2RUY7	VWC2L_HUMAN	Homo sapiens von Willebrand factor C domain containing protein 2-like (VWC2L), mRNA.	94	VWFC 1.					extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(10)|prostate(1)	16						CCCTAAAATTCACCCAAAGTG	0.418000														14			6		0	0	0.000157383	0	0
CORIN	10699	broad.mit.edu	37	4	47765520	47765520	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:47765520T>A	uc003gxm.3	-	3	586	c.493A>T	c.(493-495)Aac>Tac	p.N165Y	CORIN_uc011bzf.2_Missense_Mutation_p.N26Y|CORIN_uc011bzg.2_Missense_Mutation_p.N98Y|CORIN_uc011bzh.1_Missense_Mutation_p.N165Y|CORIN_uc011bzi.1_Missense_Mutation_p.N165Y|CORIN_uc003gxn.4_Missense_Mutation_p.N165Y	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	165	FZ 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ATTTCCATGTTTCTGACAACT	0.488000														74			23		0	0	0.000720815	0	0
THRB	7068	broad.mit.edu	37	3	24185072	24185072	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:24185072C>T	uc003ccz.4	-	8	1178	c.658G>A	c.(658-660)Gag>Aag	p.E220K	THRB_uc010hfe.3_Missense_Mutation_p.E220K|THRB_uc003ccy.4_Missense_Mutation_p.E220K|THRB_uc003ccx.4_Missense_Mutation_p.E220K	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	220					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TTGATGAGCTCCCATTCCTCG	0.562000														45			12		0	0	0.000308642	0	0
MC3R	4159	broad.mit.edu	37	20	54824480	54824480	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:54824480C>T	uc002xxb.2	+	0	693	c.581C>T	c.(580-582)aCc>aTc	p.T194I		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	231					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	p.T231I(1)|p.T194T(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TGCCTCATCACCATGTTCTTC	0.582000														31			19		0	0	0.00278032	0	0
TET2	54790	broad.mit.edu	37	4	106158123	106158123	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:106158123G>A	uc011cez.2	+	2	3492	c.3087G>A	c.(3085-3087)aaG>aaA	p.K1029K	TET2_uc003hxk.3_Silent_p.K1008K|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Silent_p.K1008K|TET2_uc010ilp.2_Silent_p.K1008K|TET2_uc021xql.1_Silent_p.K1008K	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	1008					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.M1028fs*5(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		AGGTAACTAAGCAAGAGAATC	0.463000			"""Mis N, F"""		MDS									16			5		0	0	0.000602214	0	0
MEPE	56955	broad.mit.edu	37	4	88766817	88766817	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:88766817C>T	uc021xpx.1	+	3	902	c.890C>T	c.(889-891)cCt>cTt	p.P297L	MEPE_uc021xpu.1_Missense_Mutation_p.P266L|MEPE_uc021xpv.1_Missense_Mutation_p.P153L|MEPE_uc021xpw.1_Missense_Mutation_p.P153L|MEPE_uc010ikn.3_Missense_Mutation_p.P153L|MEPE_uc003hqy.3_Missense_Mutation_p.P266L|MEPE_uc021xpy.1_Missense_Mutation_p.P153L	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	266					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AAGGACATTCCTGGTAAAGGA	0.458000														24			6		0	0	0.00116845	0	0
GOLGB1	2804	broad.mit.edu	37	3	121438523	121438523	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:121438523G>A	uc010hrc.3	-	6	867	c.741C>T	c.(739-741)acC>acT	p.T247T	GOLGB1_uc003eei.4_Silent_p.T242T|GOLGB1_uc003eej.4_Silent_p.T208T|GOLGB1_uc021xcy.1_Intron|GOLGB1_uc011bjm.1_Intron|GOLGB1_uc010hrd.1_Intron	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	242					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CATCTGCCTGGGTTACTAACT	0.433000														31			13		0	0	0.000308642	0	0
MDGA1	266727	broad.mit.edu	37	6	37606016	37606016	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:37606016C>T	uc003onu.1	-	15	3920	c.2741G>A	c.(2740-2742)gGg>gAg	p.G914E	MDGA1_uc003onv.1_Missense_Mutation_p.G183E	NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	914	MAM.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GGGACACTCCCCCTTCTTCAG	0.592000														36			4		0	0	0.000602214	0	0
ZNRF3	84133	broad.mit.edu	37	22	29445491	29445492	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:29445491_29445492CC>TT	uc003aeg.3	+	7	1322_1323	c.1322_1323CC>TT	c.(1321-1323)tcc>tTT	p.S441F	ZNRF3_uc021wnq.1_Missense_Mutation_p.S341F	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	441						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CGGGCCTACTCCCCAGCCCACC	0.649000														22			5		0	0	6.4e-05	0	0
ALPK2	115701	broad.mit.edu	37	18	56203325	56203325	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:56203325C>G	uc002lhj.4	-	4	4308	c.4094G>C	c.(4093-4095)gGg>gCg	p.G1365A	ALPK2_uc002lhk.1_Missense_Mutation_p.G696A	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1365							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ATTTTCCTTCCCTCCAGTTTC	0.453000														59			16		0	0	0.000566183	0	0
TMPRSS11A	339967	broad.mit.edu	37	4	68780365	68780365	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:68780365C>T	uc003hdr.1	-	8	1166	c.1045G>A	c.(1045-1047)Gat>Aat	p.D349N	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.D346N	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	349	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.D349H(2)		breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						GGTTTTATATCATTGCCATAC	0.383000														80			13		0	0	0.00185496	0	0
CDCA2	157313	broad.mit.edu	37	8	25341548	25341548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:25341548G>A	uc003xep.1	+	9	1664	c.1187G>A	c.(1186-1188)gGa>gAa	p.G396E	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.G396E|CDCA2_uc003xeq.1_Missense_Mutation_p.G381E|CDCA2_uc003xer.1_Missense_Mutation_p.G59E	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	396					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)		GTTACTTTTGGAGAGGACTTA	0.368000														89			18		0	0	0.000566183	0	0
ZC3H3	23144	broad.mit.edu	37	8	144550396	144550396	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:144550396G>A	uc003yyd.2	-	7	2187	c.2158C>T	c.(2158-2160)Cat>Tat	p.H720Y		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	720					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TTGGACACATGGTGGGAGAAG	0.652000														46			7		0	0	0.000978159	0	0
PLCG2	5336	broad.mit.edu	37	16	81990323	81990323	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:81990323C>T	uc002fgt.3	+	31	3772	c.3594C>T	c.(3592-3594)tcC>tcT	p.S1198S		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	1198					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AACTTTACTCCTCCTGTCGCC	0.527000														18			5		0	0	0.00116845	0	0
GNA12	2768	broad.mit.edu	37	7	2834666	2834666	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:2834666G>A	uc003smu.3	-	1	585	c.421C>T	c.(421-423)Cct>Tct	p.P141S	GNA12_uc011jwb.2_Missense_Mutation_p.P141S|GNA12_uc003smt.3_Missense_Mutation_p.P82S	NM_007353	NP_031379	Q03113	GNA12_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein) alpha 12 (GNA12), mRNA.	141					G-protein signaling, coupled to cAMP nucleotide second messenger|Rho protein signal transduction|platelet activation	brush border membrane|heterotrimeric G-protein complex	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;1.02e-13)		GGCTCCACAGGCAGCCCCGCC	0.562000														123			21		0	0	0.00188189	0	0
RIC8B	55188	broad.mit.edu	37	12	107245347	107245347	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:107245347C>T	uc001tlw.3	+	6	1406	c.1281C>T	c.(1279-1281)ttC>ttT	p.F427F	RIC8B_uc001tlx.3_Silent_p.F427F|RIC8B_uc001tly.3_Silent_p.F387F|RIC8B_uc001tlz.3_Non-coding_Transcript|RIC8B_uc009zur.3_Non-coding_Transcript	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog B (C. elegans) (RIC8B), mRNA.	427					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						CTGCTGAATTCCTTTTTGTCC	0.408000														22			9		0	0	0.000978159	0	0
SYPL2	284612	broad.mit.edu	37	1	110018237	110018237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:110018237C>T	uc001dxp.3	+	2	530	c.164C>T	c.(163-165)tCc>tTc	p.S55F	SYPL2_uc001dxo.2_Missense_Mutation_p.S55F|SYPL2_uc010ovk.2_Missense_Mutation_p.S55F|SYPL2_uc001dxq.2_5'Flank	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN	Homo sapiens synaptophysin-like 2 (SYPL2), mRNA.	55	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TCCTGTGGCTCCTACAGCGGG	0.532000														169			38		0	0	0.00222228	0	0
HMGCR	3156	broad.mit.edu	37	5	74639788	74639789	+	Splice_Site	DNP	GG	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:74639788_74639789GG>TT	uc011cst.2	+	3	589	c.337_splice	c.e3+1	p.G113_splice	HMGCR_uc003kdp.3_Splice_Site_p.G93_splice|HMGCR_uc003kdq.3_Splice_Site_p.G93_splice|HMGCR_uc010izn.1_5'Flank	NM_000859	NP_000850	P04035	HMDH_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), transcript variant 1, mRNA.	93					cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	NADP binding|hydroxymethylglutaryl-CoA reductase (NADPH) activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	AATATATTTTGGGTAATAGTTT	0.312000														381			16		0	0	6.4e-05	0	0
EFTUD1	79631	broad.mit.edu	37	15	82532857	82532858	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:82532857_82532858GG>AA	uc002bgt.1	-	5	586_587	c.417_418CC>TT	c.(415-420)atccgt>atTTgt	p.R140C	EFTUD1_uc002bgu.1_Missense_Mutation_p.R89C	NM_024580	NP_078856	Q7Z2Z2	ETUD1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 1 (EFTUD1), transcript variant 1, mRNA.	140					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						AAAACCGGACGGATGTTTTCAA	0.366000														41			7		0	0	6.4e-05	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186934669	186934669	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:186934669C>T	uc001gsc.3	+	14	1913	c.1708C>T	c.(1708-1710)Ctc>Ttc	p.L570F	PLA2G4A_uc010pos.2_Missense_Mutation_p.L510F	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	570	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	AGGGGTTGATCTCATAATCTC	0.438000														76			6		0	0	0.00198382	0	0
ADCYAP1	116	broad.mit.edu	37	18	905484	905484	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:905484T>C	uc010dkg.3	+	1	216	c.97T>C	c.(97-99)Ttc>Ctc	p.F33L	ADCYAP1_uc010dkh.3_Missense_Mutation_p.F33L	NM_001099733	NP_001108	P18509	PACA_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) (ADCYAP1), transcript variant 1, mRNA.	33					activation of adenylate cyclase activity|cell-cell signaling|female pregnancy|nerve growth factor receptor signaling pathway|regulation of G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|peptide hormone receptor binding			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						CGGACTCCGGTTCCCCGGGAT	0.632000														15			5		0	0	0.000602214	0	0
SORCS2	57537	broad.mit.edu	37	4	7726961	7726961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:7726961C>T	uc003gkb.4	+	19	2692	c.2692C>T	c.(2692-2694)Ccc>Tcc	p.P898S	SORCS2_uc011bwi.2_Missense_Mutation_p.P726S	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	898						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TGTGCTGCTTCCCTTGAACCC	0.622000														16			8		0	0	0.000157383	0	0
PCDHB3	56132	broad.mit.edu	37	5	140482081	140482081	+	Silent	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140482081C>G	uc003lio.3	+	0	1848	c.1848C>G	c.(1846-1848)ggC>ggG	p.G616G	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	616	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTGTTCGGCGTGTGGGCGC	0.687000														48			12		0	0	0.000308642	0	0
CCDC138	165055	broad.mit.edu	37	2	109463278	109463278	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:109463278C>T	uc002ten.1	+	11	1468	c.1408C>T	c.(1408-1410)Cca>Tca	p.P470S	CCDC138_uc002teo.1_Missense_Mutation_p.P470S|CCDC138_uc002tep.1_Missense_Mutation_p.P154S|CCDC138_uc010fjm.1_Missense_Mutation_p.P154S	NM_144978	NP_659415	Q96M89	CC138_HUMAN	Homo sapiens coiled-coil domain containing 138 (CCDC138), mRNA.	470										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						GGATAATTCTCCACAGCATTC	0.353000														44			25		0	0	0.000586117	0	0
TNXB	7148	broad.mit.edu	37	6	32036433	32036433	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:32036433G>A	uc003nzl.2	-	16	6156	c.5954C>T	c.(5953-5955)cCc>cTc	p.P1985L		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2067	Fibronectin type-III 12.				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						AGGCTTGATGGGGGGCTCGGG	0.632000														226			72		0	0	0.000781405	0	0
RBM11	54033	broad.mit.edu	37	21	15592007	15592007	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:15592007C>T	uc002yjo.4	+	1	262	c.220C>T	c.(220-222)Cgt>Tgt	p.R74C	RBM11_uc002yjn.4_5'UTR|RBM11_uc002yjp.4_Intron	NM_144770	NP_658983	P57052	RBM11_HUMAN	Homo sapiens RNA binding motif protein 11 (RBM11), mRNA.	74	RRM.						RNA binding|nucleotide binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		GAATGGAATTCGTTTATATGG	0.388000														21			9		0	0	0.00136819	0	0
SLC44A4	80736	broad.mit.edu	37	6	31831496	31831497	+	Silent	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31831496_31831497GG>AA	uc010jti.3	-	20	2106_2107	c.2040_2041CC>TT	c.(2038-2043)tccctg>tcTTtg	p.680_681SL>SL	NEU1_uc003nxq.4_5'Flank|SLC44A4_uc011dol.2_Silent_p.604_605SL>SL|SLC44A4_uc011dom.2_Silent_p.638_639SL>SL	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	680						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGCCGGTCCAGGGAGCCGTTGT	0.599000														57			6		0	0	6.4e-05	0	0
ZNF767	79970	broad.mit.edu	37	7	149318378	149318378	+	RNA	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:149318378G>A	uc003wfy.3	-	1		c.522C>T			ZNF767_uc003wfx.2_Non-coding_Transcript|ZNF767_uc011kuq.1_Non-coding_Transcript					Homo sapiens zinc finger family member 767 (ZNF767), transcript variant 2, non-coding RNA.											central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)	5	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00434)			TGCTGCCCGGGGGCAGCCGCA	0.682000														78			15		0	0	0.000566183	0	0
HIVEP1	3096	broad.mit.edu	37	6	12120594	12120594	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:12120594C>T	uc003nac.3	+	3	745	c.566C>T	c.(565-567)cCc>cTc	p.P189L	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	189					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACTACGTCCCCCTCCTATACA	0.448000														73			10		0	0	0.000673444	0	0
NF1	4763	broad.mit.edu	37	17	29533315	29533315	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:29533315C>T	uc002hgg.3	+	11	1701	c.1318C>T	c.(1318-1320)Cga>Tga	p.R440*	NF1_uc002hge.2_Nonsense_Mutation_p.R440*|NF1_uc002hgf.2_Nonsense_Mutation_p.R440*|NF1_uc002hgh.3_Nonsense_Mutation_p.R440*|NF1_uc010csn.2_Nonsense_Mutation_p.R300*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	440					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(6)|p.R440*(6)|p.R440>?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGTTGAACTTCGAAATATGTT	0.398000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				46			37		0	0	0.000953801	0	0
COL12A1	1303	broad.mit.edu	37	6	75884929	75884929	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:75884929G>A	uc021zbv.1	-	11	2570	c.2535C>T	c.(2533-2535)ctC>ctT	p.L845L	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Silent_p.L845L|COL12A1_uc003pht.3_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	845	Fibronectin type-III 5.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TATATGTGACGAGATACTGTT	0.473000														62			19		0	0	0.00152264	0	0
IDE	3416	broad.mit.edu	37	10	94228677	94228677	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:94228677G>A	uc001kia.3	-	18	2355	c.2279C>T	c.(2278-2280)cCa>cTa	p.P760L	IDE_uc010qnp.2_Missense_Mutation_p.P205L|IDE_uc001khz.3_Missense_Mutation_p.P205L	NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	760					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGCTGACTTGGAAGGAGAGG	0.418000														227			12		0	0	0.000308642	0	0
IL7R	3575	broad.mit.edu	37	5	35873724	35873724	+	Missense_Mutation	SNP	G	A	A	rs148165103		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:35873724G>A	uc003jjs.3	+	4	769	c.680G>A	c.(679-681)aGa>aAa	p.R227K	IL7R_uc011coo.2_Missense_Mutation_p.R227K|IL7R_uc011cop.2_Intron	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	227					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TATTACTTCAGAACTCCAGAG	0.428000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							36			21		0	0	0.00278032	0	0
GALC	2581	broad.mit.edu	37	14	88417021	88417021	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:88417021A>G	uc001xvt.3	-	10	1340	c.1233T>C	c.(1231-1233)ttT>ttC	p.F411F	GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvy.2_Silent_p.F388F|GALC_uc010tvx.2_Silent_p.F385F|GALC_uc010tvz.1_Silent_p.F355F	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	411					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTTAAGAACAAAGGTGGCAA	0.294000														21			4		0	0	0.000602214	0	0
SH3PXD2B	285590	broad.mit.edu	37	5	171833335	171833335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:171833335G>A	uc003mbr.3	-	2	349	c.178C>T	c.(178-180)Ccc>Tcc	p.P60S	SH3PXD2B_uc003mbs.1_Missense_Mutation_p.P60S	NM_001017995	NP_001017995	A1X283	SPD2B_HUMAN	Homo sapiens SH3 and PX domains 2B (SH3PXD2B), mRNA.	60	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	SH2 domain binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCTTCCATGGGAAATTTGTCC	0.463000														50			16		0	0	0.00074312	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	C	C	rs148060711	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:14414844T>C	uc002yiy.3	+	1		c.281T>C			ANKRD30BP2_uc002yja.4_Non-coding_Transcript					Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		ACTGGGCCTGTGCCAATGGCC	0.433000														19			3		0	0	6.4e-05	0	0
PPYR1	5540	broad.mit.edu	37	10	47087414	47087414	+	Missense_Mutation	SNP	C	T	T	rs142029092	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:47087414C>T	uc001jee.3	+	2	1050	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.R211C|PPYR1_uc021ppu.1_Missense_Mutation_p.R211C	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	211					blood circulation|digestion|feeding behavior	integral to plasma membrane		p.R211C(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGCTCACCACCGCACCATCTA	0.582000														73			8		0	0	0.000274275	0	0
BAZ1A	11177	broad.mit.edu	37	14	35253102	35253102	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:35253102A>C	uc001wsk.3	-	14	2431	c.1863T>G	c.(1861-1863)tgT>tgG	p.C621W	BAZ1A_uc001wsl.3_Missense_Mutation_p.C589W	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	621					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GTAGCTTTCCACAGAGAGCAT	0.348000														30			10		0	0	0.000442599	0	0
OR51A4	401666	broad.mit.edu	37	11	4968000	4968000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:4968000C>T	uc010qys.2	-	0	331	c.331G>A	c.(331-333)Gta>Ata	p.V111I		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACTCCAGTACTGAGAATCCA	0.453000														118			10		0	0	0.00185496	0	0
PRX	57716	broad.mit.edu	37	19	40900064	40900064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:40900064G>A	uc002onr.3	-	6	4464	c.4195C>T	c.(4195-4197)Ccc>Tcc	p.P1399S	PRX_uc002onq.3_Missense_Mutation_p.P1260S|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	1399					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGGGACTTGGGGGCTGCATCG	0.701000														20			9		0	0	0.000673444	0	0
ZP1	22917	broad.mit.edu	37	11	60642654	60642654	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:60642654C>T	uc001nqd.3	+	10	1727	c.1707C>T	c.(1705-1707)atC>atT	p.I569I	ZP1_uc001nqe.3_Silent_p.I276I	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	569					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCCAGGACATCGTGAGCTCTC	0.627000														33			10		0	0	0.00136819	0	0
ANKRD2	26287	broad.mit.edu	37	10	99338082	99338083	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:99338082_99338083GG>AA	uc001knw.3	+	2	565_566	c.356_357GG>AA	c.(355-357)cgg>cAA	p.R119Q	ANKRD2_uc009xvu.3_Missense_Mutation_p.R119Q	NM_020349	NP_065082	Q9GZV1	ANKR2_HUMAN	Homo sapiens ankyrin repeat domain 2 (stretch responsive muscle) (ANKRD2), transcript variant 1, mRNA.	119					muscle contraction|muscle organ development		structural constituent of muscle			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		ATCGAGCTGCGGAAGAAACGCA	0.673000														11			4		0	0	6.4e-05	0	0
SLC22A4	6583	broad.mit.edu	37	5	131647942	131647942	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:131647942G>A	uc003kwq.3	+	1	647	c.482G>A	c.(481-483)gGg>gAg	p.G161E	SLC22A4_uc010jdq.1_Non-coding_Transcript|LOC553103_uc021ydj.1_Non-coding_Transcript	NM_003059	NP_003050	Q9H015	S22A4_HUMAN	Homo sapiens solute carrier family 22 (organic cation/ergothioneine transporter), member 4 (SLC22A4), mRNA.	161					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|PDZ domain binding|carnitine transporter activity|cation:cation antiporter activity|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TTCGTGTCCGGGCAGCTGTCA	0.577000														50			11		0	0	0.000673444	0	0
GRIN2C	2905	broad.mit.edu	37	17	72842259	72842259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:72842259C>T	uc002jlt.1	-	10	2452	c.2296G>A	c.(2296-2298)Gac>Aac	p.D766N	GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.D766N	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	766					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CAGTGGGAGTCCTTCTGCATG	0.622000														60			17		0	0	0.00121646	0	0
KIF3B	9371	broad.mit.edu	37	20	30898237	30898237	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:30898237C>T	uc002wxq.3	+	1	837	c.657C>T	c.(655-657)ttC>ttT	p.F219F	KIF3B_uc010ztv.2_Silent_p.F219F|KIF3B_uc010ztw.2_Silent_p.F219F	NM_004798	NP_004789	O15066	KIF3B_HUMAN	Homo sapiens kinesin family member 3B (KIF3B), mRNA.	219	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|Rho GTPase binding|plus-end-directed microtubule motor activity			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			ATGCAATTTTCGTTATCACTA	0.498000														29			6		0	0	0.00116845	0	0
CHD6	84181	broad.mit.edu	37	20	40033758	40033758	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:40033758G>A	uc002xka.1	-	36	7801	c.7623C>T	c.(7621-7623)ccC>ccT	p.P2541P	CHD6_uc002xjz.1_Silent_p.P78P	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2541					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGGTTGCCATGGGTGGACTGA	0.557000														45			23		0	0	0.000586117	0	0
SH2D1A	4068	broad.mit.edu	37	X	123480514	123480514	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:123480514C>T	uc004euf.4	+	0	383	c.22C>T	c.(22-24)Cat>Tat	p.H8Y	SH2D1A_uc004euh.4_Missense_Mutation_p.H8Y|SH2D1A_uc004eug.4_Non-coding_Transcript|SH2D1A_uc010nqw.3_Non-coding_Transcript|SH2D1A_uc004eui.4_Non-coding_Transcript|SH2D1A_uc010nqx.3_Intron	NM_002351	NP_002342	O60880	SH21A_HUMAN	Homo sapiens SH2 domain containing 1A (SH2D1A), transcript variant 1, mRNA.	8	SH2.		H -> D (in XLP1).		cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity	p.Y7H(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GGCTGTGTATCATGGCAAAAT	0.602000														28			11		0	0	0.00136819	0	0
FIGN	55137	broad.mit.edu	37	2	164466983	164466983	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:164466983G>A	uc002uck.1	-	2	1670	c.1359C>T	c.(1357-1359)tcC>tcT	p.S453S		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	453						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CAGAGTGGTTGGATGAGGTAG	0.542000														21			18		0	0	0.000566183	0	0
PTPRN	5798	broad.mit.edu	37	2	220167309	220167309	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:220167309G>A	uc002vkz.3	-	4	869	c.628C>T	c.(628-630)Ctg>Ttg	p.L210L	PTPRN_uc010zlc.2_Silent_p.L120L|PTPRN_uc002vla.3_Silent_p.L210L	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	210					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		TGGTGGAACAGGTAGGGCTGC	0.607000														36			16		0	0	0.000958276	0	0
PPP1R3C	5507	broad.mit.edu	37	10	93390174	93390174	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:93390174T>A	uc001kho.3	-	1	596	c.464A>T	c.(463-465)aAc>aTc	p.N155I		NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3C (PPP1R3C), mRNA.	155	CBM21.|Interaction with EPM2A.						protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				ACAGACAAAGTTCTTCTGAAA	0.423000														48			12		0	0	0.00244969	0	0
STAB2	55576	broad.mit.edu	37	12	104056728	104056728	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:104056728C>T	uc001tjw.3	+	17	2160	c.1974C>T	c.(1972-1974)gtC>gtT	p.V658V		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	658					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CCTCCATTGTCCCGATTCTGC	0.448000														65			14		0	0	0.00121646	0	0
C1orf173	127254	broad.mit.edu	37	1	75078318	75078318	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:75078318A>G	uc001dgg.3	-	8	1395	c.1176T>C	c.(1174-1176)tcT>tcC	p.S392S	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Silent_p.S186S	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	392										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TGTAGCAAGGAGATGATCTCT	0.408000														44			7		0	0	0.000157383	0	0
UBQLNL	143630	broad.mit.edu	37	11	5536697	5536697	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5536697C>T	uc001maz.4	-	0	1260	c.975G>A	c.(973-975)caG>caA	p.Q325Q	HBG1_uc001mak.1_Intron	NM_145053	NP_659490	Q8IYU4	UBQLN_HUMAN	Homo sapiens ubiquilin-like (UBQLNL), mRNA.	325										endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TTGCAGGATGCTGTGTGAGCT	0.507000														26			18		0	0	0.00074312	0	0
LMX1A	4009	broad.mit.edu	37	1	165218718	165218718	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:165218718C>T	uc001gcz.2	-	3	617	c.423G>A	c.(421-423)caG>caA	p.Q141Q	LMX1A_uc021pdz.1_Silent_p.Q141Q	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	141	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TGCAGAGCAGCTGCCCCTCCT	0.607000														50			5		0	0	0.000602214	0	0
MANEA	79694	broad.mit.edu	37	6	96034656	96034656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:96034656C>T	uc003poo.2	+	1	521	c.341C>T	c.(340-342)cCa>cTa	p.P114L	MANEA_uc003pon.3_Missense_Mutation_p.P114L	NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	Homo sapiens mannosidase, endo-alpha (MANEA), mRNA.	114	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		TATGGAAATCCACAATTTGAT	0.378000														21			33		0	0	0.00209593	0	0
CLCN4	1183	broad.mit.edu	37	X	10176551	10176551	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:10176551G>A	uc004csy.4	+	8	1740	c.1310G>A	c.(1309-1311)gGt>gAt	p.G437D	CLCN4_uc011mid.2_Missense_Mutation_p.G343D	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	437						early endosome membrane|integral to membrane|late endosome membrane	ATP binding|antiporter activity|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCTGGTGTCGGTGTTTACACG	0.527000														59			33		0	0	0.00058488	0	0
MYCT1	80177	broad.mit.edu	37	6	153019176	153019176	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:153019176G>A	uc003qpc.4	+	0	147	c.139G>A	c.(139-141)Gat>Aat	p.D47N		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	47						nucleus		p.D47N(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		ATTTCTTGTGGATATTATGGC	0.313000														38			12		0	0	0.00185496	0	0
MAN1C1	57134	broad.mit.edu	37	1	26104700	26104700	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:26104700C>T	uc001bkm.2	+	8	1692	c.1362C>T	c.(1360-1362)ttC>ttT	p.F454F	MAN1C1_uc009vry.1_Silent_p.F274F	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	454					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		TGGCCTGTTTCTCCGGGGGCA	0.607000														17			13		0	0	0.000422831	0	0
RIMS2	9699	broad.mit.edu	37	8	105261011	105261011	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:105261011G>A	uc003yls.3	+	24	3854	c.3613G>A	c.(3613-3615)Gga>Aga	p.G1205R	RIMS2_uc003ylp.3_Missense_Mutation_p.G1187R|RIMS2_uc003ylw.2_Missense_Mutation_p.G1194R|RIMS2_uc003ylq.3_Missense_Mutation_p.G1001R|RIMS2_uc003ylr.3_Missense_Mutation_p.G1026R	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1249					intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCAGCTAGTGGGACGCCAGAC	0.428000										HNSCC(12;0.0054)				47			14		0	0	0.000422831	0	0
HIVEP1	3096	broad.mit.edu	37	6	12164072	12164072	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:12164072C>T	uc003nac.3	+	8	7714	c.7535C>T	c.(7534-7536)cCa>cTa	p.P2512L	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	2512					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAAGTCCATCCACCAGGACTG	0.537000														34			26		0	0	0.00209593	0	0
GLB1L2	89944	broad.mit.edu	37	11	134217228	134217228	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:134217228C>T	uc001qhp.3	+	4	647	c.459C>T	c.(457-459)ctC>ctT	p.L153L	GLB1L2_uc009zdg.1_Non-coding_Transcript	NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	153					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GCTGGCTACTCCAAGACCCTG	0.547000														146			28		0	0	0.000692331	0	0
MTBP	27085	broad.mit.edu	37	8	121528235	121528235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:121528235C>T	uc003ypc.1	+	17	2095	c.2050C>T	c.(2050-2052)Cgt>Tgt	p.R684C		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA.	684	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TCGTCTTATTCGTTATGAAAC	0.403000														50			11		0	0	0.000978159	0	0
PTPRT	11122	broad.mit.edu	37	20	41385139	41385139	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:41385139C>T	uc002xkg.3	-	5	1006	c.822G>A	c.(820-822)ggG>ggA	p.G274G	PTPRT_uc010ggj.3_Silent_p.G274G	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	274	Ig-like C2-type.				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)				ACACACCAGACCCACCATCAG	0.587000														14			4		0	0	0.00024832	0	0
abParts	0	broad.mit.edu	37	15	22473063	22473063	+	RNA	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:22473063C>T	uc001yuj.2	-	6		c.265G>A								Parts of antibodies, mostly variable regions.																		TGATAGATTTCCCCAATCCAC	0.567000														52			14		0	0	0.00244969	0	0
SLC13A1	6561	broad.mit.edu	37	7	122759254	122759254	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:122759254G>A	uc003vkm.3	-	12	1418	c.1393C>T	c.(1393-1395)Ctg>Ttg	p.L465L	SLC13A1_uc010lks.3_Silent_p.L341L	NM_022444	NP_071889	Q9BZW2	S13A1_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 1 (SLC13A1), mRNA.	465						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	AATGAACCCAGAGGAGATAAT	0.343000														74			9		0	0	0.00136819	0	0
DYDC1	143241	broad.mit.edu	37	10	82098873	82098873	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:82098873C>G	uc001kby.1	-	5	544	c.379G>C	c.(379-381)Gaa>Caa	p.E127Q	DYDC1_uc001kbx.3_Missense_Mutation_p.E127Q|DYDC1_uc009xsr.1_Missense_Mutation_p.E127Q			Q8WWB3	DYDC1_HUMAN	Homo sapiens DPY30 domain containing 1 (DYDC1), mRNA.	127										kidney(1)|large_intestine(3)|skin(1)	5			Colorectal(32;0.229)			AGAATATCTTCATTCCTAACT	0.254000														30			8		0	0	0.000274275	0	0
GAS2L2	246176	broad.mit.edu	37	17	34073271	34073271	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:34073271C>T	uc002hjv.2	-	5	1273	c.1245G>A	c.(1243-1245)agG>agA	p.R415R		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	415					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGTGGGAATCCTTCCCCTGG	0.587000														77			12		0	0	0.00185496	0	0
PTPRB	5787	broad.mit.edu	37	12	70928615	70928615	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:70928615C>T	uc001swb.4	-	27	5578	c.5548G>A	c.(5548-5550)Ggt>Agt	p.G1850S	BC031864_uc001svz.3_Intron|PTPRB_uc010sto.2_Missense_Mutation_p.G1760S|PTPRB_uc010stp.2_Missense_Mutation_p.G1760S|PTPRB_uc001swc.4_Missense_Mutation_p.G2068S|PTPRB_uc001swa.4_Missense_Mutation_p.G1980S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1850	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TAACATACACCGCATATCTTA	0.522000														19			4		0	0	0.000602214	0	0
HSF5	124535	broad.mit.edu	37	17	56557512	56557512	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:56557512G>A	uc002iwi.1	-	1	791	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W		NM_001080439	NP_001073908	Q4G112	HSF5_HUMAN	Homo sapiens heat shock transcription factor family member 5 (HSF5), mRNA.	223						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACTGGGGTCCGATCTAAACCT	0.468000														82			15		0	0	0.000422831	0	0
CTNND2	1501	broad.mit.edu	37	5	11111000	11111000	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:11111000C>T	uc003jfa.1	-	13	2578	c.2433G>A	c.(2431-2433)aaG>aaA	p.K811K	CTNND2_uc010itt.2_Silent_p.K720K|CTNND2_uc011cmy.1_Silent_p.K474K|CTNND2_uc011cmz.1_Silent_p.K378K|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.K378K	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	811	Poly-Lys.				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCTTCTTCTTCTTGCCCCAGC	0.512000														197			38		0	0	0.00170553	0	0
DUSP22	56940	broad.mit.edu	37	6	304638	304638	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:304638G>A	uc003msx.3	+	1	471	c.32G>A	c.(31-33)gGc>gAc	p.G11D	DUSP22_uc011dhn.1_Missense_Mutation_p.G11D|DUSP22_uc003msy.1_5'UTR	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.	11					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.P10P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		ATCCTGCCCGGCCTGTACATC	0.443000														207			21		0	0	0.000586117	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45516811	45516811	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:45516811C>T	uc001cnd.2	-	4	1595	c.1367G>A	c.(1366-1368)gGa>gAa	p.G456E		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	456							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TCCATAGTTTCCATCCTCCAG	0.517000														24			16		0	0	0.000422831	0	0
NAAA	27163	broad.mit.edu	37	4	76846923	76846923	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:76846923G>A	uc003hjb.3	-	4	695	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	NAAA_uc003hja.3_Missense_Mutation_p.R211W|NAAA_uc003hjc.4_Missense_Mutation_p.R211W|NAAA_uc003hjd.4_Intron|NAAA_uc011cbq.2_Missense_Mutation_p.R110W	NM_014435	NP_055250	Q02083	NAAA_HUMAN	Homo sapiens N-acylethanolamine acid amidase (NAAA), transcript variant 1, mRNA.	211					lipid metabolic process	lysosome	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						ATGTGTCTCCGAAACAGGGCA	0.448000														32			5		0	0	0.00198382	0	0
HYDIN	54768	broad.mit.edu	37	16	70841527	70841528	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:70841527_70841528TC>GT	uc002ezr.3	-	85	15469_15470	c.15318_15319GA>AC	c.(15316-15321)gagact>gaACct	p.T5107P	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	5108										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)				TTAACTCCAGTCTCACTCCCTT	0.470000														42			7		0	0	6.4e-05	0	0
USP21	27005	broad.mit.edu	37	1	161133981	161133981	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:161133981C>T	uc010pkc.2	+	9	1623	c.1246C>T	c.(1246-1248)Ctg>Ttg	p.L416L	USP21_uc010pkd.2_Silent_p.L416L|USP21_uc021pbv.1_5'Flank|PPOX_uc001fyj.2_5'Flank|PPOX_uc001fyg.2_5'Flank|PPOX_uc010pkg.1_5'Flank|PPOX_uc001fyi.2_5'Flank|PPOX_uc010pkh.1_5'Flank	NM_001014443	NP_036607	Q9UK80	UBP21_HUMAN	Homo sapiens ubiquitin specific peptidase 21 (USP21), transcript variant 3, mRNA.	416					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	NEDD8-specific protease activity|metal ion binding|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAAGGTGTCTCTGCGGGATTG	0.478000														57			6		0	0	0.00198382	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51045390	51045390	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:51045390C>T	uc003bmx.3	+	10	2388	c.2271C>T	c.(2269-2271)tcC>tcT	p.S757S	MAPK8IP2_uc003bmy.3_Silent_p.S730S|MAPK8IP2_uc011asc.2_Silent_p.S112S	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	758	PID.				MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AGAACATCTCCTTCTGCGGCT	0.622000														28			5		0	0	0.00198382	0	0
DDX39B	7919	broad.mit.edu	37	6	31499098	31499098	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31499098G>A	uc003ntt.3	-	7	1610	c.952C>T	c.(952-954)Cac>Tac	p.H318Y	DDX39B_uc003ntr.3_Missense_Mutation_p.H125Y|DDX39B_uc003ntu.3_Missense_Mutation_p.H318Y|DDX39B_uc011dnn.2_Missense_Mutation_p.H240Y|DDX39B_uc003ntv.3_Missense_Mutation_p.H318Y	NM_004640	NP_542165	Q13838	DX39B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B), transcript variant 1, mRNA.	318	Helicase C-terminal.				RNA secondary structure unwinding|intronless viral mRNA export from host nucleus|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent RNA helicase activity|ATP-dependent protein binding|U4 snRNA binding|U6 snRNA binding|identical protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						ATCCCACGGTGGATGGCAATG	0.527000														68			14		0	0	0.000566183	0	0
PLCE1	51196	broad.mit.edu	37	10	95791609	95791609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:95791609C>T	uc001kjk.3	+	1	1440	c.806C>T	c.(805-807)tCt>tTt	p.S269F	PLCE1_uc010qnx.2_Missense_Mutation_p.S269F	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	269					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)				TTTGAAGGCTCTTGTGAGAAG	0.388000														30			13		0	0	0.00185496	0	0
BAZ2A	11176	broad.mit.edu	37	12	57009263	57009263	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:57009263A>C	uc001slq.1	-	2	465	c.271T>G	c.(271-273)Tgt>Ggt	p.C91G	BAZ2A_uc001slp.1_Missense_Mutation_p.C89G|BAZ2A_uc010sqr.1_Missense_Mutation_p.C91G|BAZ2A_uc009zow.1_Missense_Mutation_p.C89G	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	91					DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TTCCAGAGACAGTCGTAGGCC	0.542000														35			9		0	0	0.000442599	0	0
ADAM18	8749	broad.mit.edu	37	8	39468047	39468047	+	Splice_Site	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:39468047G>A	uc003xni.3	+	6	400	c.345_splice	c.e6-1	p.R115_splice	ADAM18_uc003xnh.3_Splice_Site_p.R115_splice|ADAM18_uc010lww.3_Intron|ADAM18_uc010lwx.3_Splice_Site_p.R115_splice	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	115					cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TAAATTTTCAGGGGATTTCTC	0.274000														48			10		0	0	0.000442599	0	0
CNR1	1268	broad.mit.edu	37	6	88854370	88854370	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:88854370G>A	uc010kbz.3	-	1	754	c.624C>T	c.(622-624)ttC>ttT	p.F208F	CNR1_uc011dzr.2_Silent_p.F208F|CNR1_uc011dzs.2_Silent_p.F208F|CNR1_uc003pmq.4_Silent_p.F208F|CNR1_uc011dzt.2_Silent_p.F208F|CNR1_uc010kca.3_Silent_p.F175F|CNR1_uc021zco.1_Silent_p.F208F	NM_016083	NP_057167	P21554	CNR1_HUMAN	Homo sapiens cannabinoid receptor 1 (brain) (CNR1), transcript variant 1, mRNA.	208					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TGGCTGTGAGGAACAGGCTGC	0.567000														20			4		0	0	0.00024832	0	0
KCNH1	3756	broad.mit.edu	37	1	211093130	211093130	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:211093130C>T	uc001hib.2	-	6	1484	c.1314G>A	c.(1312-1314)ggG>ggA	p.G438G	KCNH1_uc001hic.2_Silent_p.G411G	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	438					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)		CTTCCCACTTCCCTGAGCCAG	0.517000														38			6		0	0	0.00116845	0	0
LRRC61	65999	broad.mit.edu	37	7	150034284	150034284	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:150034284C>T	uc003wgz.4	+	0	334	c.334C>T	c.(334-336)Ccg>Tcg	p.P112S	LRRC61_uc003wgv.3_Missense_Mutation_p.P112S|LRRC61_uc003wgx.3_Missense_Mutation_p.P112S|LRRC61_uc003wgw.3_Missense_Mutation_p.P112S	NM_023942	NP_076431	Q9BV99	LRC61_HUMAN	Homo sapiens leucine rich repeat containing 61 (LRRC61), transcript variant 2, mRNA.	112										endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			ACTGGCCACCCCGGGCCAGCT	0.642000														22			7		0	0	0.00198382	0	0
PGA5	5222	broad.mit.edu	37	11	61017144	61017144	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:61017144C>T	uc001nqz.3	+	6	832	c.777C>T	c.(775-777)atC>atT	p.I259I		NM_014224	NP_055039	P00790	PEPA_HUMAN	Homo sapiens pepsinogen 5, group I (pepsinogen A) (PGA5), mRNA.	259					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			large_intestine(1)|skin(1)	2						CCCTCAGCATCACCATGAACG	0.592000														63			13		0	0	0.000422831	0	0
SIDT2	51092	broad.mit.edu	37	11	117059475	117059475	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:117059475C>T	uc001pqg.2	+	13	1315	c.1274C>T	c.(1273-1275)tCt>tTt	p.S425F	SIDT2_uc010rxe.1_Missense_Mutation_p.S404F|SIDT2_uc001pqh.1_Missense_Mutation_p.S404F|SIDT2_uc001pqi.1_Missense_Mutation_p.S401F	NM_001040455	NP_001035545	Q8NBJ9	SIDT2_HUMAN	Homo sapiens SID1 transmembrane family, member 2 (SIDT2), mRNA.	404						integral to membrane|lysosomal membrane				NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	36	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000219)|all cancers(92;0.00144)		TCCATGAGCTCTGTGGAGGAG	0.592000														34			14		0	0	0.00244969	0	0
DOPEY2	9980	broad.mit.edu	37	21	37583878	37583878	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:37583878G>A	uc002yvg.3	+	5	788	c.709G>A	c.(709-711)Gac>Aac	p.D237N	DOPEY2_uc011aeb.2_Missense_Mutation_p.D237N	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	237					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						CTCCCTGTTGGACTCAAATGT	0.393000														49			24		0	0	0.00127121	0	0
DLG4	1742	broad.mit.edu	37	17	7095233	7095233	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7095233G>A	uc010vtn.2	-	16	2035	c.1775C>T	c.(1774-1776)cCc>cTc	p.P592L	DLG4_uc010vtm.2_Intron|DLG4_uc010cly.3_Missense_Mutation_p.P649L|DLG4_uc002get.4_Missense_Mutation_p.P695L|DLG4_uc010vto.2_Missense_Mutation_p.P692L	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	652	Guanylate kinase-like.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein C-terminus binding|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CAGGGAGCGGGGGCGGATGAA	0.672000														46			11		0	0	0.00185496	0	0
PKLR	5313	broad.mit.edu	37	1	155265068	155265068	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:155265068A>C	uc001fkb.4	-	4	572	c.533T>G	c.(532-534)gTg>gGg	p.V178G	PKLR_uc001fka.4_Missense_Mutation_p.V147G	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	178					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	GGAGCCCTTCACCAGCTCCAC	0.672000														56			11		0	0	0.00185496	0	0
SUSD5	26032	broad.mit.edu	37	3	33195379	33195379	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:33195379G>A	uc003cfo.1	-	4	1163	c.745C>T	c.(745-747)Cgt>Tgt	p.R249C		NM_015551	NP_056366	O60279	SUSD5_HUMAN	Homo sapiens sushi domain containing 5 (SUSD5), mRNA.	249					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GAGACCAGACGGTCCTGTTTT	0.562000														22			5		0	0	0.00116845	0	0
PTK7	5754	broad.mit.edu	37	6	43109755	43109755	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:43109755C>T	uc011dve.1	+	11	1921	c.1879C>T	c.(1879-1881)Ccc>Tcc	p.P627S	PTK7_uc003oub.1_Missense_Mutation_p.P619S|PTK7_uc003ouc.1_Missense_Mutation_p.P619S|PTK7_uc003oud.1_Missense_Mutation_p.P579S|PTK7_uc003oue.1_Missense_Mutation_p.P489S|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	619	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCAGGGGGACCCCAAGCCGCT	0.597000														16			7		0	0	0.00198382	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995987	140995987	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:140995987G>A	uc004fbt.3	+	3	3121	c.2797G>A	c.(2797-2799)Gag>Aag	p.E933K	MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_Missense_Mutation_p.E592K	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	933	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CACAAAGGCAGAGATGCTGAC	0.478000										HNSCC(15;0.026)				76			36		0	0	0.000814825	0	0
MAN1C1	57134	broad.mit.edu	37	1	26110160	26110160	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:26110160C>T	uc001bkm.2	+	11	2103	c.1773C>T	c.(1771-1773)ctC>ctT	p.L591L	MAN1C1_uc009vry.1_Silent_p.L411L	NM_020379	NP_065112	Q9NR34	MA1C1_HUMAN	Homo sapiens mannosidase, alpha, class 1C, member 1 (MAN1C1), mRNA.	591					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ACAGGTATCTCTATCTTCTGT	0.582000														31			13		0	0	0.00185496	0	0
PTCH2	8643	broad.mit.edu	37	1	45293593	45293593	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:45293593G>A	uc010olf.2	-	13	1992	c.1980C>T	c.(1978-1980)tcC>tcT	p.S660S	PTCH2_uc021omv.1_Silent_p.S660S|PTCH2_uc010olg.2_Silent_p.S358S	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	660					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CACAGGGCAGGGACTTGCAGG	0.612000									Basal Cell Nevus syndrome					42			8		0	0	0.000978159	0	0
WBSCR17	64409	broad.mit.edu	37	7	71130578	71130578	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:71130578G>A	uc003tvy.3	+	6	1263	c.1263G>A	c.(1261-1263)ctG>ctA	p.L421L	WBSCR17_uc003tvz.3_Silent_p.L120L	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	421						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.P420P(2)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ACCTGCCGCTGGAGGTAGGGA	0.478000														11			29		0	0	0.00283554	0	0
CSMD3	114788	broad.mit.edu	37	8	113267574	113267574	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:113267574G>A	uc003ynu.3	-	61	10104	c.9945C>T	c.(9943-9945)ttC>ttT	p.F3315F	CSMD3_uc003yns.3_Silent_p.F2517F|CSMD3_uc003ynt.3_Silent_p.F3275F|CSMD3_uc011lhx.2_Silent_p.F3146F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3315	Sushi 26.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATTGCAGCTGAATGAAACCT	0.408000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				25			24		0	0	0.00278032	0	0
DSC1	1823	broad.mit.edu	37	18	28739459	28739460	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:28739459_28739460CT>TA	uc002kwn.3	-	1	358_359	c.96_97AG>TA	c.(94-99)aaagtt>aaTAtt	p.32_33KV>NI	DSC1_uc002kwm.3_Missense_Mutation_p.32_33KV>NI	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	32					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CGAAGATAAACTTTCTGACAAG	0.317000														53			73		0	0	6.4e-05	0	0
DCLK3	85443	broad.mit.edu	37	3	36779808	36779808	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:36779808C>T	uc003cgi.2	-	1	834	c.343G>A	c.(343-345)Gaa>Aaa	p.E115K		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	115						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TGCCTCTCTTCCAGAGTGGCT	0.557000														73			22		0	0	0.000878237	0	0
XIRP2	129446	broad.mit.edu	37	2	168099166	168099166	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:168099166G>A	uc002udx.3	+	8	1353	c.1264G>A	c.(1264-1266)Gaa>Aaa	p.E422K	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.E247K|XIRP2_uc010fpq.3_Missense_Mutation_p.E200K|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	247					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						CCAGAGGAAGGAAACATCAAC	0.423000														31			18		0	0	0.000566183	0	0
GAR1	54433	broad.mit.edu	37	4	110739239	110739239	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:110739239G>A	uc003hzt.3	+	2	669	c.362G>A	c.(361-363)aGa>aAa	p.R121K	GAR1_uc003hzu.3_Missense_Mutation_p.R121K|GAR1_uc010imh.1_Missense_Mutation_p.R121K|GAR1_uc010imi.3_Missense_Mutation_p.R121K	NM_018983	NP_127460	Q9NY12	GAR1_HUMAN	Homo sapiens GAR1 ribonucleoprotein homolog (yeast) (GAR1), transcript variant 1, mRNA.	121					rRNA processing|snRNA pseudouridine synthesis	Cajal body|box H/ACA snoRNP complex	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						GGACAACTCAGAGATTTTGTA	0.328000														47			20		0	0	0.00229938	0	0
NSUN2	54888	broad.mit.edu	37	5	6600194	6600194	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:6600194G>A	uc003jdu.3	-	18	2530	c.2149C>T	c.(2149-2151)Ctc>Ttc	p.L717F	NSUN2_uc003jdt.3_Missense_Mutation_p.L481F|NSUN2_uc011cmk.2_Missense_Mutation_p.L682F|NSUN2_uc003jdv.3_Missense_Mutation_p.L481F	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	717						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TCATTTGTGAGGATAACCCCT	0.527000														31			31		0	0	0.000953801	0	0
SLC25A28	81894	broad.mit.edu	37	10	101370859	101370859	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:101370859G>A	uc001kpx.2	-	3	971	c.842C>T	c.(841-843)cCa>cTa	p.P281L	SLC25A28_uc021pwy.1_Missense_Mutation_p.P93L|SLC25A28_uc021pwz.1_Missense_Mutation_p.P126L|SLC25A28_uc001kpy.2_Missense_Mutation_p.P94L	NM_031212	NP_112489	Q96A46	MFRN2_HUMAN	Homo sapiens solute carrier family 25, member 28 (SLC25A28), mRNA.	281					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane		p.P281P(1)		endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		AACGTCCAGTGGGGTTGTGGC	0.557000														22			6		0	0	0.00198382	0	0
MOAP1	64112	broad.mit.edu	37	14	93649538	93649538	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:93649538G>A	uc021saw.1	-	0	1050	c.1050C>T	c.(1048-1050)ttC>ttT	p.F350F	MOAP1_uc001ybj.3_Silent_p.F350F|C14orf109_uc001ybk.4_5'Flank|C14orf109_uc010auo.3_5'Flank	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN	Homo sapiens modulator of apoptosis 1 (MOAP1), mRNA.	350					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		AGACTCAGGTGAAATTACCTT	0.468000														26			8		0	0	0.000274275	0	0
ERMN	57471	broad.mit.edu	37	2	158178150	158178150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:158178150C>T	uc002tzi.3	-	3	682	c.527G>A	c.(526-528)cGa>cAa	p.R176Q	ERMN_uc010zcj.2_Missense_Mutation_p.R57Q|ERMN_uc002tzh.3_Missense_Mutation_p.R163Q|ERMN_uc010zck.2_Missense_Mutation_p.R143Q	NM_001009959	NP_065762	Q8TAM6	ERMIN_HUMAN	Homo sapiens ermin, ERM-like protein (ERMN), transcript variant 1, mRNA.	163						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						GCTAGGTTTTCGAAATCCCAG	0.418000														81			39		0	0	0.00195071	0	0
B3GALNT1	8706	broad.mit.edu	37	3	160804296	160804296	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:160804296G>A	uc003fdv.3	-	4	666	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L	B3GALNT1_uc003fdw.3_Silent_p.L83L|B3GALNT1_uc003fdx.3_Silent_p.L83L|B3GALNT1_uc003fdy.3_Silent_p.L83L|B3GALNT1_uc003fdz.3_Silent_p.L83L|B3GALNT1_uc003fea.3_Silent_p.L83L|B3GALNT1_uc011bpa.2_Intron|B3GALNT1_uc021xgw.1_Silent_p.L83L	NM_033169	NP_149359	O75752	B3GL1_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) (B3GALNT1), transcript variant 4, mRNA.	83					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			GAGGTCACCAGAATGACCAGA	0.428000														52			21		0	0	0.000720815	0	0
KLK4	9622	broad.mit.edu	37	19	51411946	51411946	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:51411946A>G	uc002pua.1	-	2	364	c.364T>C	c.(364-366)Ttg>Ctg	p.L122L	KLK4_uc002pty.1_Silent_p.L73L|KLK4_uc002ptz.1_Non-coding_Transcript|KLK4_uc002pub.1_Silent_p.L27L|KLK4_uc002puc.1_Non-coding_Transcript|KLK4_uc010eoi.1_Silent_p.L27L|KLK4_uc002pud.1_Silent_p.L27L	NM_004917	NP_004908	Q9Y5K2	KLK4_HUMAN	Homo sapiens kallikrein-related peptidase 4 (KLK4), mRNA.	122	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GATTCGTCCAACTTGATGAGC	0.597000														37			6		0	0	0.00198382	0	0
ACTN2	88	broad.mit.edu	37	1	236908053	236908053	+	Silent	SNP	C	T	T	rs34827377	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:236908053C>T	uc001hyf.2	+	11	1587	c.1383C>T	c.(1381-1383)atC>atT	p.I461I	ACTN2_uc001hyg.2_Silent_p.I253I|ACTN2_uc009xgi.1_Silent_p.I461I|ACTN2_uc010pxu.1_Silent_p.I150I	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	461					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGGAGCAGATCGCAGCCATCG	0.652000														9			5		0	0	0.000157383	0	0
HCRTR2	3062	broad.mit.edu	37	6	55039502	55039502	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:55039502C>T	uc003pcl.3	+	0	432	c.117C>T	c.(115-117)ttC>ttT	p.F39F	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzu.1_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	39					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			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)			ACGAGGAATTCCTGCGGTACC	0.542000														35			16		0	0	0.00074312	0	0
KCNK1	3775	broad.mit.edu	37	1	233807123	233807123	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:233807123G>A	uc010pxo.1	+	2	1026	c.858G>A	c.(856-858)aaG>aaA	p.K286K		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	286						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	AGAAGGACAAGGACGAGGATC	0.458000														39			8		0	0	0.000274275	0	0
MOV10	4343	broad.mit.edu	37	1	113231667	113231668	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:113231667_113231668CC>TT	uc001eck.3	+	2	518_519	c.248_249CC>TT	c.(247-249)gcc>gTT	p.A83V	MOV10_uc001ecl.2_Missense_Mutation_p.A83V|MOV10_uc001ecn.3_Missense_Mutation_p.A83V|MOV10_uc001ecm.3_Missense_Mutation_p.A23V|MOV10_uc009wgj.1_Missense_Mutation_p.A23V	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	83					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		GACCGCTGGGCCGACGTGCGGT	0.530000														45			10		0	0	6.4e-05	0	0
C7orf63	79846	broad.mit.edu	37	7	89927075	89927076	+	Nonsense_Mutation	DNP	GG	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:89927075_89927076GG>TT	uc010lep.3	+	15	2039_2040	c.1788_1789GG>TT	c.(1786-1791)ttggga>ttTTga	p.596_597LG>F*	C7orf63_uc003ukf.2_Non-coding_Transcript|C7orf63_uc003ukg.2_Nonsense_Mutation_p.271_272LG>F*|C7orf63_uc011khj.2_Nonsense_Mutation_p.578_579LG>F*|C7orf63_uc011khk.2_Nonsense_Mutation_p.158_159LG>F*	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN	Homo sapiens chromosome 7 open reading frame 63 (C7orf63), transcript variant 1, mRNA.	596							binding	p.L596F(3)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GCTGTATTTTGGGATGTTATCC	0.287000														208			8		0	0	6.4e-05	0	0
TSPAN13	27075	broad.mit.edu	37	7	16817517	16817517	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:16817517C>T	uc003stq.3	+	3	649	c.407C>T	c.(406-408)cCa>cTa	p.P136L		NM_014399	NP_055214	O95857	TSN13_HUMAN	Homo sapiens tetraspanin 13 (TSPAN13), mRNA.	136						integral to plasma membrane|membrane fraction				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	7	Lung NSC(10;0.0494)|all_lung(11;0.109)			UCEC - Uterine corpus endometrioid carcinoma (126;0.188)		AGTGTTAACCCAAATGACACC	0.383000														32			47		0	0	0.000781405	0	0
ABCC8	6833	broad.mit.edu	37	11	17483349	17483349	+	Silent	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:17483349C>G	uc001mnc.3	-	4	729	c.603G>C	c.(601-603)ccG>ccC	p.P201P	ABCC8_uc010rcy.1_Silent_p.P201P	NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	201					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			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)	TCACCTCCCTCGGTGTCTTGA	0.577000														137			25		0	0	0.000720815	0	0
COIL	8161	broad.mit.edu	37	17	55027862	55027862	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:55027862G>A	uc002iuu.3	-	1	772	c.741C>T	c.(739-741)tcC>tcT	p.S247S		NM_004645	NP_004636	P38432	COIL_HUMAN	Homo sapiens coilin (COIL), mRNA.	247	2 X 4 AA repeats of A-R-N-S.|Ser/Thr-rich.					Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CAGACTCCGAGGAGGAACTGG	0.428000														67			61		0	0	0.000781405	0	0
TESPA1	9840	broad.mit.edu	37	12	55356625	55356625	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:55356625A>C	uc010spd.1	-	8	1190	c.1057T>G	c.(1057-1059)Ttg>Gtg	p.L353V	TESPA1_uc001sgl.3_Missense_Mutation_p.L215V|TESPA1_uc001sgm.3_Missense_Mutation_p.L100V|TESPA1_uc010spb.1_Missense_Mutation_p.L100V|TESPA1_uc010spc.1_Missense_Mutation_p.L215V|TESPA1_uc001sgn.3_Missense_Mutation_p.L353V	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	353																	GAAGTGGGCAACTTCTTACCC	0.507000														15			6		0	0	0.00116845	0	0
LRP1B	53353	broad.mit.edu	37	2	141242937	141242937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:141242937C>T	uc002tvj.1	-	58	10372	c.9400G>A	c.(9400-9402)Gac>Aac	p.D3134N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3134					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)		AAAGACAAGTCTCTGGGAAAC	0.348000										TSP Lung(27;0.18)				37			18		0	0	0.00121646	0	0
PSG3	5671	broad.mit.edu	37	19	43383729	43383729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:43383729C>T	uc002ovd.1	-	0	143	c.5G>A	c.(4-6)gGa>gAa	p.G2E	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.G2E|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Missense_Mutation_p.G2E|PSG3_uc002ova.2_Missense_Mutation_p.G2E|PSG3_uc002ouz.2_Missense_Mutation_p.G2E|PSG3_uc002ovb.3_Missense_Mutation_p.G2E	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	2					defense response|female pregnancy	extracellular region		p.G2V(2)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGAGAGGGTTCCCATGGTCTC	0.567000														29			22		0	0	0.000720815	0	0
KIF6	221458	broad.mit.edu	37	6	39607458	39607459	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:39607458_39607459CC>TT	uc003oot.2	-	3	421_422	c.326_327GG>AA	c.(325-327)ggg>gAA	p.G109E	KIF6_uc010jxa.1_5'UTR|KIF6_uc011dua.1_Missense_Mutation_p.G109E|KIF6_uc010jxb.1_Missense_Mutation_p.G109E	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	109	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GCTCTGCACCCCCTGTGATAGT	0.421000														37			10		0	0	6.4e-05	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963193	73963193	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:73963193C>T	uc004eby.3	-	2	1816	c.1199G>A	c.(1198-1200)gGa>gAa	p.G400E		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	400					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						ATTATCCTTTCCATCTTTCTT	0.443000														53			26		0	0	0.00127121	0	0
C10orf71	118461	broad.mit.edu	37	10	50531819	50531819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:50531819C>T	uc021pqb.1	+	0	1229	c.1229C>T	c.(1228-1230)cCt>cTt	p.P410L	C10orf71_uc021pqa.1_Missense_Mutation_p.P409L|C10orf71_uc021pqc.1_Missense_Mutation_p.P410L	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	410										endometrium(1)	1						AGAGGCCCACCTTTGTATACA	0.458000														68			21		0	0	0.000720815	0	0
FAM75C2	645961	broad.mit.edu	37	9	90746873	90746873	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:90746873G>A	uc011lti.2	-	3	1108	c.1079C>T	c.(1078-1080)tCt>tTt	p.S360F		NM_001166137	NP_001159609	B4DYI2	B4DYI2_HUMAN	Homo sapiens family with sequence similarity 75, member C2 (FAM75C2), mRNA.	360																	GACTGGGAAAGAGGATTGAAG	0.532000														101			31		0	0	0.0025221	0	0
TNPO3	23534	broad.mit.edu	37	7	128614962	128614962	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:128614962G>A	uc010lly.2	-	17	2738	c.2335C>T	c.(2335-2337)Cac>Tac	p.H779Y	TNPO3_uc010llx.2_Missense_Mutation_p.H156Y|TNPO3_uc003vol.2_Missense_Mutation_p.H745Y|TNPO3_uc010llz.2_Missense_Mutation_p.H681Y|TNPO3_uc003vom.2_Missense_Mutation_p.H679Y	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.	745					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GTGTCAGGGTGATTCTGGAGA	0.443000														88			8		0	0	0.000274275	0	0
CHD4	1108	broad.mit.edu	37	12	6701628	6701628	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:6701628G>A	uc001qpo.3	-	18	3043	c.2879C>T	c.(2878-2880)gCc>gTc	p.A960V	CHD4_uc001qpn.3_Missense_Mutation_p.A953V|CHD4_uc001qpp.3_Missense_Mutation_p.A957V	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	960					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GAACACATCGGCTTTGAGCCG	0.507000														69			16		0	0	0.000958276	0	0
HM13	81502	broad.mit.edu	37	20	30125987	30125987	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:30125987C>T	uc002wwc.3	+	2	402	c.288C>T	c.(286-288)ttC>ttT	p.F96F	HM13_uc002wwd.3_Silent_p.F96F|HM13_uc002wwe.3_Silent_p.F96F|HM13_uc002wwb.1_Silent_p.F96F	NM_178581	NP_848696	Q8TCT9	HM13_HUMAN	Homo sapiens histocompatibility (minor) 13 (HM13), transcript variant 3, mRNA.	96					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CTCAGATATTCTCCCAGGAGT	0.517000														53			6		0	0	0.000274275	0	0
PENK	5179	broad.mit.edu	37	8	57353980	57353980	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:57353980G>A	uc003xsz.2	-	1	736	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	PENK_uc003xta.3_Missense_Mutation_p.R219C	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	219					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CACTCTGGGCGACCTACTCTT	0.532000														63			34		0	0	0.00170553	0	0
PCNXL2	80003	broad.mit.edu	37	1	233136215	233136215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:233136215C>T	uc001hvl.2	-	29	5399	c.5164G>A	c.(5164-5166)Gag>Aag	p.E1722K	PCNXL2_uc001hvk.1_Missense_Mutation_p.E374K|PCNXL2_uc001hvm.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1722						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)				ACCTTCTTCTCGAAGGACTGG	0.622000														9			6		0	0	0.00116845	0	0
CSNK1A1L	122011	broad.mit.edu	37	13	37678874	37678874	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:37678874G>A	uc001uwm.1	-	0	928	c.520C>T	c.(520-522)Ccg>Tcg	p.P174S		NM_145203	NP_660204	Q8N752	KC1AL_HUMAN	Homo sapiens casein kinase 1, alpha 1-like (CSNK1A1L), mRNA.	174	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity	p.P174Q(1)		NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TCTCTGTACGGTATGTGTTGC	0.453000														42			13		0	0	0.00136819	0	0
MYT1L	23040	broad.mit.edu	37	2	1926476	1926476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:1926476C>T	uc002qxe.3	-	9	1892	c.1065G>A	c.(1063-1065)atG>atA	p.M355I	MYT1L_uc002qxd.3_Missense_Mutation_p.M355I|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	355					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GACGGATGTTCATGTTCTGCT	0.572000														15			7		0	0	0.000274275	0	0
KIF5A	3798	broad.mit.edu	37	12	57961391	57961391	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:57961391G>A	uc001sor.1	+	7	912	c.704G>A	c.(703-705)gGg>gAg	p.G235E	KIF5A_uc010srr.1_Missense_Mutation_p.G146E	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	235	Kinesin-motor.|Microtubule-binding.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GACCTGGCAGGGAGTGAGAAG	0.527000														60			21		0	0	0.00278032	0	0
MUC17	140453	broad.mit.edu	37	7	100685956	100685956	+	Silent	SNP	C	T	T	rs141089332		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:100685956C>T	uc003uxp.1	+	2	11312	c.11259C>T	c.(11257-11259)acC>acT	p.T3753T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3753	Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					AAATAAGCACCCTTGGGACCA	0.483000														139			24		0	0	0.000586117	0	0
KRT75	9119	broad.mit.edu	37	12	52827787	52827787	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:52827787C>T	uc001saj.2	-	0	324	c.302G>A	c.(301-303)gGg>gAg	p.G101E		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	101	Gly-rich.|Head.					keratin filament	structural molecule activity	p.G101W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		AACTCCACCCCCATAGCCAAA	0.597000														31			6		0	0	0.00198382	0	0
LPXN	9404	broad.mit.edu	37	11	58322362	58322362	+	Silent	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:58322362A>C	uc001nmw.3	-	3	415	c.270T>G	c.(268-270)gcT>gcG	p.A90A	LPXN_uc009ymp.3_5'UTR|LPXN_uc010rkj.2_Silent_p.A95A|LPXN_uc010rkk.2_Silent_p.A70A	NM_004811	NP_004802	O60711	LPXN_HUMAN	Homo sapiens leupaxin (LPXN), transcript variant 2, mRNA.	90					cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CCAACTGAGCAGCTGCTGACG	0.478000														67			11		0	0	0.000978159	0	0
VTN	7448	broad.mit.edu	37	17	26696819	26696819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:26696819C>T	uc002hbc.3	-	2	387	c.238G>A	c.(238-240)Gat>Aat	p.D80N	TMEM199_uc010wah.1_Intron|SARM1_uc010waj.1_Intron|SARM1_uc010crl.1_5'Flank	NM_000638	NP_000629	P04004	VTNC_HUMAN	Homo sapiens vitronectin (VTN), mRNA.	80					cell adhesion mediated by integrin|immune response|negative regulation of endopeptidase activity|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein binding|positive regulation of receptor-mediated endocytosis|positive regulation of smooth muscle cell migration|positive regulation of vascular endothelial growth factor receptor signaling pathway|smooth muscle cell-matrix adhesion	alphav-beta3 integrin-vitronectin complex|extracellular space	heparin binding|integrin binding|scavenger receptor activity			kidney(2)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	13	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)	Urokinase(DB00013)	TCCTCGCCATCGTCATAGACC	0.592000														24			17		0	0	0.00188189	0	0
PLAC1L	219990	broad.mit.edu	37	11	59814515	59814515	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:59814515G>A	uc001nol.3	+	3	631	c.446G>A	c.(445-447)gGa>gAa	p.G149E		NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	Homo sapiens placenta-specific 1-like (PLAC1L), mRNA.	149						extracellular region		p.L148I(1)		breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						GAAGAGTTAGGATTATTATCT	0.358000														66			12		0	0	0.00136819	0	0
ITGAM	3684	broad.mit.edu	37	16	31332933	31332933	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:31332933G>A	uc002ebr.3	+	15	2088	c.1990G>A	c.(1990-1992)Gat>Aat	p.D664N	ITGAM_uc002ebq.3_Missense_Mutation_p.D663N|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.3_Missense_Mutation_p.D69N|ITGAM_uc002ebs.1_Missense_Mutation_p.D69N	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	663					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.R664R(1)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GAGCACACGGGATCGGCTAAG	0.532000														33			11		0	0	0.000673444	0	0
GPSM3	63940	broad.mit.edu	37	6	32159205	32159205	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:32159205T>C	uc003oay.4	-	3	823	c.421A>G	c.(421-423)Aga>Gga	p.R141G	PBX2_uc003oav.1_5'Flank|PBX2_uc003oaw.3_5'Flank|GPSM3_uc003oaz.3_Missense_Mutation_p.R141G	NM_022107	NP_071390	Q9Y4H4	GPSM3_HUMAN	Homo sapiens G-protein signaling modulator 3 (GPSM3), mRNA.	141	GoLoco 3.				signal transduction	cytoplasm	GTPase activator activity|protein binding			large_intestine(1)	1						CCCTGAACTCTCAGCAGCAAC	0.647000														194			22		0	0	0.00278032	0	0
MGAM	8972	broad.mit.edu	37	7	141752690	141752690	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:141752690A>T	uc003vwy.3	+	25	3119	c.3065A>T	c.(3064-3066)aAg>aTg	p.K1022M		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1022					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)	ATCTCCTTAAAGTCTTCCGTT	0.458000														78			13		0	0	0.00185496	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24254924	24254924	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:24254924G>A	uc003xdz.2	+	5	802	c.582G>A	c.(580-582)ggG>ggA	p.G194G	ADAMDEC1_uc010lub.2_Silent_p.G115G|ADAMDEC1_uc011lab.1_Silent_p.G115G	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	194					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GCACTGACGGGAAACAAGGCC	0.448000														70			11		0	0	0.00244969	0	0
FER1L6	654463	broad.mit.edu	37	8	124992888	124992888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:124992888C>T	uc003yqw.3	+	10	1453	c.1247C>T	c.(1246-1248)tCc>tTc	p.S416F		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	416						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCTAAATTTTCCAAGGCCCTG	0.458000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		74			8		0	0	0.000274275	0	0
HIST1H2BC	8347	broad.mit.edu	37	6	26123986	26123986	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:26123986G>A	uc003ngk.4	-	0	169	c.147C>T	c.(145-147)gtC>gtT	p.V49V	HIST1H2BC_uc003ngl.3_Silent_p.V49V|HIST1H2AC_uc003ngm.3_5'Flank|HIST1H2AC_uc003ngo.3_5'Flank	NM_003526	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bc (HIST1H2BC), mRNA.	49					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						TGTCGGGATGGACCTGTTTCA	0.547000														163			21		0	0	0.00106085	0	0
FBXW11	23291	broad.mit.edu	37	5	171327068	171327068	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:171327068G>A	uc003mbm.1	-	3	781	c.410C>T	c.(409-411)tCg>tTg	p.S137L	FBXW11_uc011dey.1_Missense_Mutation_p.S105L|FBXW11_uc003mbl.1_Missense_Mutation_p.S124L|FBXW11_uc003mbn.1_Missense_Mutation_p.S103L	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	Homo sapiens F-box and WD repeat domain containing 11 (FBXW11), transcript variant 3, mRNA.	137	F-box.				SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway|cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process	SCF ubiquitin ligase complex|centrosome|cytosol|nucleus	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			ATCCAGGTACGAAAGAATGTT	0.448000														68			23		0	0	0.00047179	0	0
DSCAML1	57453	broad.mit.edu	37	11	117391858	117391858	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:117391858G>A	uc001prh.1	-	5	1382	c.1380C>T	c.(1378-1380)atC>atT	p.I460I	DSCAML1_uc001pri.1_Silent_p.I264I	NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	400	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CAAGTGCAATGATGGCAAAGT	0.647000														43			11		0	0	0.00136819	0	0
FAM171B	165215	broad.mit.edu	37	2	187626805	187626805	+	Missense_Mutation	SNP	G	A	A	rs145287585		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:187626805G>A	uc002ups.3	+	7	1848	c.1736G>A	c.(1735-1737)cGa>cAa	p.R579Q	FAM171B_uc002upr.1_Missense_Mutation_p.R546Q|FAM171B_uc002upt.3_Missense_Mutation_p.R48Q	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	579						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CCAGTAAATCGAGAGAACTTT	0.458000														11			7		0	0	0.000274275	0	0
LRFN2	57497	broad.mit.edu	37	6	40399545	40399545	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:40399545G>A	uc003oph.1	-	1	1773	c.1308C>T	c.(1306-1308)gcC>gcT	p.A436A		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	436	Fibronectin type-III.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACTTGACCAGGGCCGAGGTGG	0.602000														52			10		0	0	0.000673444	0	0
EPHA6	285220	broad.mit.edu	37	3	96706639	96706639	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:96706639C>T	uc010how.1	+	2	959	c.916C>T	c.(916-918)Cgt>Tgt	p.R306C	EPHA6_uc003drp.1_Missense_Mutation_p.R306C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	211						integral to plasma membrane	ATP binding|ephrin receptor activity			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						CTTCACTGTTCGTAACTTGGC	0.458000														63			15		0	0	0.000308642	0	0
NMS	129521	broad.mit.edu	37	2	101089982	101089982	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:101089982C>T	uc002tan.1	+	2	171	c.164C>T	c.(163-165)cCt>cTt	p.P55L		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	Homo sapiens neuromedin S (NMS), mRNA.	55					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CAGTGGGCACCTCTTTCTCGC	0.338000														52			11		0	0	0.00244969	0	0
AKR1B10	57016	broad.mit.edu	37	7	134222966	134222966	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:134222966C>T	uc003vrr.3	+	7	1082	c.762C>T	c.(760-762)atC>atT	p.I254I		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	254					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GTTTCCATATCCAGAGGAATG	0.483000														137			16		0	0	0.00152264	0	0
KCTD8	386617	broad.mit.edu	37	4	44177177	44177177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:44177177G>A	uc003gwu.3	-	1	1336	c.1052C>T	c.(1051-1053)tCc>tTc	p.S351F		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	351						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						CTCATTACAGGAAGTCCCACT	0.468000										HNSCC(17;0.042)				35			14		0	0	0.00244969	0	0
SLC6A1	6529	broad.mit.edu	37	3	11059101	11059101	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:11059101G>A	uc010hdq.3	+	2	615	c.204G>A	c.(202-204)tgG>tgA	p.W68*		NM_003042	NP_003033	P30531	SC6A1_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 1 (SLC6A1), mRNA.	68					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	GCAACGTCTGGAGGTTCCCCT	0.622000														43			12		0	0	0.00244969	0	0
OR52L1	338751	broad.mit.edu	37	11	6007457	6007457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:6007457G>A	uc001mcd.2	-	0	759	c.704C>T	c.(703-705)tCc>tTc	p.S235F		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGGCATAGGAAACACCAAT	0.517000														46			10		0	0	0.000673444	0	0
NR2F1	7025	broad.mit.edu	37	5	92923755	92923755	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:92923755C>T	uc003kkj.3	+	1	2283	c.596C>T	c.(595-597)cCc>cTc	p.P199L	NR2F1_uc021ybj.1_Missense_Mutation_p.P148L|NR2F1_uc021ybk.1_Missense_Mutation_p.P174L	NM_005654	NP_005645	P10589	COT1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 1 (NR2F1), mRNA.	199					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		GAGCCCTACCCCACGTCGCGC	0.657000														25			15		0	0	0.000566183	0	0
SF1	7536	broad.mit.edu	37	11	64535187	64535187	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:64535187G>A	uc001obb.2	-	9	1650	c.1198C>T	c.(1198-1200)Cca>Tca	p.P400S	SF1_uc010rnm.2_Missense_Mutation_p.P92S|SF1_uc010rnn.2_Missense_Mutation_p.P374S|SF1_uc001oaz.2_Missense_Mutation_p.P525S|SF1_uc001oba.2_Missense_Mutation_p.P400S|SF1_uc001obd.2_Missense_Mutation_p.P400S|SF1_uc001obc.2_Missense_Mutation_p.P400S|SF1_uc001obe.2_Missense_Mutation_p.P285S|SF1_uc010rno.2_Missense_Mutation_p.P285S|SF1_uc021qky.1_5'Flank	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	400	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	RNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CTGGGTAATGGGTGTGGGAAG	0.632000											OREG0004010|OREG0021062	type=REGULATORY REGION|Gene=LOC476031|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay|type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			6		0	0	0.00198382	0	0
KIAA0100	9703	broad.mit.edu	37	17	26947568	26947568	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:26947568T>A	uc002hbu.3	-	28	5426	c.5323A>T	c.(5323-5325)Att>Ttt	p.I1775F		NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	1775						extracellular region		p.D1774Y(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TTGTTGACAATGTCCAGGATC	0.502000														24			10		0	0	0.000442599	0	0
ZNF208	7757	broad.mit.edu	37	19	22156927	22156927	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:22156927A>G	uc021urr.1	-	3	1058	c.909T>C	c.(907-909)caT>caC	p.H303H	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GAATTGCCTTATGTGTAGTAA	0.393000														35			7		0	0	0.00198382	0	0
PIGV	55650	broad.mit.edu	37	1	27120624	27120625	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:27120624_27120625CC>TT	uc001bmz.3	+	2	462_463	c.99_100CC>TT	c.(97-102)atccca>atTTca	p.P34S	PIGV_uc001bna.3_Missense_Mutation_p.P34S|PIGV_uc010ofg.2_5'UTR	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 2, mRNA.	34					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		ATGCCATCATCCCAGATCACCA	0.495000														62			15		0	0	6.4e-05	0	0
INTS8	55656	broad.mit.edu	37	8	95877776	95877777	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:95877776_95877777CC>AA	uc003yhb.3	+	16	2245_2246	c.2119_2120CC>AA	c.(2119-2121)cct>AAt	p.P707N	INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Missense_Mutation_p.P534N	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	707					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ACTTCCAGGCCCTAAAGAAAGT	0.401000														456			12		0	0	6.4e-05	0	0
PICK1	9463	broad.mit.edu	37	22	38469033	38469033	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:38469033C>T	uc003auq.3	+	9	1107	c.717C>T	c.(715-717)ctC>ctT	p.L239L	PICK1_uc003aur.3_Silent_p.L239L|PICK1_uc003aus.3_Silent_p.L239L|PICK1_uc003aut.3_Silent_p.L239L	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	Homo sapiens protein interacting with PRKCA 1 (PICK1), transcript variant 1, mRNA.	239	AH.				DNA methylation involved in embryo development|DNA methylation involved in gamete generation|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	Golgi apparatus|cell junction|endocytic vesicle membrane|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					ACACGTACCTCAACAAAGCCA	0.567000														55			7		0	0	0.000274275	0	0
OCM	654231	broad.mit.edu	37	7	5920543	5920543	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:5920543G>A	uc003spe.4	+	0	115	c.23G>A	c.(22-24)aGt>aAt	p.S8N		NM_001097622	NP_001091091	P0CE72	ONCO_HUMAN	Homo sapiens oncomodulin (OCM), mRNA.	8							calcium ion binding			endometrium(1)|large_intestine(3)|lung(2)	6		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0978)|OV - Ovarian serous cystadenocarcinoma(56;2.11e-14)		GACGTGCTCAGTGCTGACGAC	0.537000														71			13		0	0	0.00074312	0	0
IFT74	80173	broad.mit.edu	37	9	26978173	26978173	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:26978173G>A	uc010mja.3	+	2	295	c.168G>A	c.(166-168)ggG>ggA	p.G56G	IFT74_uc010mjb.3_Silent_p.G56G|IFT74_uc003zqf.4_Silent_p.G56G|IFT74_uc003zqg.4_Silent_p.G56G	NM_001099223	NP_079379	Q96LB3	IFT74_HUMAN	Homo sapiens intraflagellar transport 74 homolog (Chlamydomonas) (IFT74), transcript variant 3, mRNA.	56						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		GTCCCATAGGGACTGGTGGAG	0.423000														9			12		0	0	0.00136819	0	0
PITPNM3	83394	broad.mit.edu	37	17	6441390	6441390	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:6441390G>C	uc002gdd.4	-	1	186	c.35C>G	c.(34-36)cCg>cGg	p.P12R	PITPNM3_uc010cln.3_Missense_Mutation_p.P12R	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	12					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		ACCGCCGCCCGGGGGAGGACC	0.562000														11			7		0	0	0.000978159	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417905	150417905	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:150417905C>T	uc003whq.3	+	2	953	c.813C>T	c.(811-813)ccC>ccT	p.P271P	GIMAP1-GIMAP5_uc022apw.1_Intron	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		TGAAGTCCCCCAGGAGCTGGA	0.746000														0			12		0	0	0.00136819	0	0
CHD6	84181	broad.mit.edu	37	20	40081527	40081527	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:40081527G>A	uc002xka.1	-	20	3354	c.3176C>T	c.(3175-3177)tCg>tTg	p.S1059L		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1059					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTCCTCAAACGAGTTGTAGTG	0.502000														37			7		0	0	0.000274275	0	0
KLHL31	401265	broad.mit.edu	37	6	53517009	53517009	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:53517009C>T	uc003pcb.4	-	2	1433	c.1292G>A	c.(1291-1293)gGa>gAa	p.G431E	AX746830_uc003pcc.1_Missense_Mutation_p.S134F	NM_001003760	NP_001003760	Q9H511	KLH31_HUMAN	Homo sapiens kelch-like 31 (Drosophila) (KLHL31), mRNA.	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent					autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(3)	20	Lung NSC(77;0.0158)					GGCCAGGCTTCCTTCTGCGTT	0.672000														38			7		0	0	0.000157383	0	0
HRC	3270	broad.mit.edu	37	19	49657866	49657866	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:49657866C>T	uc002pmv.3	-	0	816	c.629G>A	c.(628-630)gGa>gAa	p.G210E		NM_002152	NP_002143	P23327	SRCH_HUMAN	Homo sapiens histidine rich calcium binding protein (HRC), mRNA.	210	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GGCCTGGTGTCCATACTCAGT	0.587000														9			6		0	0	0.00116845	0	0
TTN	7273	broad.mit.edu	37	2	179552865	179552865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179552865C>T	uc021vsy.1	-	123	28777	c.28552G>A	c.(28552-28554)Gaa>Aaa	p.E9518K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6179K|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10445							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)			TCTGCTTCTTCCTCCTCCTCT	0.388000														81			39		0	0	0.00195071	0	0
TRIM51	84767	broad.mit.edu	37	11	55653632	55653632	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:55653632G>A	uc010rip.2	+	2	537	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	TRIM51_uc010riq.2_Missense_Mutation_p.E6K	NM_032681	NP_116070	Q9BSJ1	SPRY5_HUMAN	Homo sapiens SPRY domain containing 5 (SPRYD5), mRNA.	149						intracellular	zinc ion binding										GTCTTTATGGGAAAAAGCTTG	0.408000														12			14		0	0	0.00244969	0	0
TRPV5	56302	broad.mit.edu	37	7	142630494	142630494	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142630494G>A	uc003wby.1	-	0	327	c.63C>T	c.(61-63)tcC>tcT	p.S21S	TRPV5_uc003wbz.3_Silent_p.S21S	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	21					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TGACCAGAAAGGAGGGCAGAA	0.537000														71			14		0	0	0.000308642	0	0
CCR1	1230	broad.mit.edu	37	3	46245712	46245712	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:46245712G>A	uc003cph.1	-	1	164	c.93C>T	c.(91-93)gcC>gcT	p.A31A	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Silent_p.A31A	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	31					G-protein signaling, coupled to cyclic nucleotide second messenger|cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GGGCCCCAAAGGCCCTCTCGT	0.542000														10			5		0	0	0.000602214	0	0
PAPPA2	60676	broad.mit.edu	37	1	176564105	176564105	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:176564105C>T	uc001gkz.3	+	2	2529	c.1365C>T	c.(1363-1365)gtC>gtT	p.V455V	PAPPA2_uc001gky.1_Silent_p.V455V|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	455	Metalloprotease.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTGACTTGGTCCTGACAGCGA	0.547000														74			12		0	0	0.00185496	0	0
NCAM1	4684	broad.mit.edu	37	11	113105838	113105838	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:113105838G>A	uc021qqp.1	+	14	2221	c.1849G>A	c.(1849-1851)Ggg>Agg	p.G617R	NCAM1_uc001pnp.3_Missense_Mutation_p.G581R|NCAM1_uc021qqo.1_Missense_Mutation_p.G581R|NCAM1_uc001pnq.3_Missense_Mutation_p.G591R|NCAM1_uc001pnr.3_Missense_Mutation_p.G581R	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	593	Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	Golgi membrane|anchored to membrane|extracellular region|integral to membrane		p.L616L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CAATGGCAAAGGGCTGGGTGA	0.597000														7			3		0	0	6.4e-05	0	0
MCHR2	84539	broad.mit.edu	37	6	100382357	100382357	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:100382357G>A	uc003pqh.1	-	4	939	c.624C>T	c.(622-624)ttC>ttT	p.F208F	MCHR2_uc003pqi.1_Silent_p.F208F	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	208						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.F208fs*5(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGGGTAGAGGGAAAAAAAAAG	0.343000														46			12		0	0	0.00185496	0	0
FZD2	2535	broad.mit.edu	37	17	42636534	42636534	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:42636534C>T	uc002igx.2	+	0	1723	c.1478C>T	c.(1477-1479)tCg>tTg	p.S493L		NM_001466	NP_001457	Q14332	FZD2_HUMAN	Homo sapiens frizzled family receptor 2 (FZD2), mRNA.	493					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGGGAGCGCTCGTGGGTGAGC	0.632000														20			10		0	0	0.000673444	0	0
HEPHL1	341208	broad.mit.edu	37	11	93796841	93796841	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:93796841G>A	uc001pep.2	+	2	740	c.583G>A	c.(583-585)Gac>Aac	p.D195N		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	195	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CGCCCCAAAGGACATCTGCTC	0.527000														18			5		0	0	0.000157383	0	0
SH3BP1	23616	broad.mit.edu	37	22	38061867	38061867	+	Silent	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:38061867T>C	uc003atm.1	+	1	933	c.880T>C	c.(880-882)Ttg>Ctg	p.L294L	SH3BP1_uc003atj.1_Silent_p.L603L	NM_020315	NP_064711	Q9Y3L3	3BP1_HUMAN	Homo sapiens pyridoxal (pyridoxine, vitamin B6) phosphatase (PDXP), mRNA.	0	Rho-GAP.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GACAGAGGGGTTGGAGGACTG	0.632000														22			6		0	0	0.00116845	0	0
SCD5	79966	broad.mit.edu	37	4	83602041	83602041	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:83602041C>T	uc003hna.2	-	2	708	c.388G>A	c.(388-390)Gac>Aac	p.D130N	SCD5_uc003hnb.4_Missense_Mutation_p.D130N	NM_001037582	NP_001032671	Q86SK9	SCD5_HUMAN	Homo sapiens stearoyl-CoA desaturase 5 (SCD5), transcript variant 1, mRNA.	130					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				GCTCGGTGGTCCCTGGACCAC	0.582000														37			7		0	0	0.000442599	0	0
DNAH9	1770	broad.mit.edu	37	17	11604564	11604564	+	Splice_Site	SNP	G	A	A	rs55888525		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:11604564G>A	uc002gne.3	+	24	5219	c.5151_splice	c.e24+1	p.Q1717_splice	DNAH9_uc010coo.3_Splice_Site_p.Q1011_splice	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1717	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCCAGCTCAGGTATTCTCCT	0.547000														38			9		0	0	0.000274275	0	0
SCN10A	6336	broad.mit.edu	37	3	38739449	38739449	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:38739449C>T	uc003ciq.3	-	26	5262	c.5262G>A	c.(5260-5262)gaG>gaA	p.E1754E		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1754					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACTGAGTGGCCTCTGGGTCAA	0.493000														34			6		0	0	0.00198382	0	0
STAU1	6780	broad.mit.edu	37	20	47733732	47733732	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:47733732G>A	uc002xud.3	-	11	1974	c.1563C>T	c.(1561-1563)atC>atT	p.I521I	STAU1_uc002xua.3_Silent_p.I440I|STAU1_uc002xub.3_Silent_p.I446I|STAU1_uc002xuc.3_Silent_p.I440I|STAU1_uc002xue.3_Silent_p.I440I|STAU1_uc002xuf.3_Silent_p.I446I|STAU1_uc002xug.3_Silent_p.I521I	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	521						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			AGGAGCAATTGATAAGAGATA	0.478000														45			8		0	0	0.000157383	0	0
SLC9C1	285335	broad.mit.edu	37	3	111898545	111898545	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:111898545C>T	uc003dyu.3	-	22	2974	c.2752G>A	c.(2752-2754)Gaa>Aaa	p.E918K	SLC9C1_uc011bhu.2_Missense_Mutation_p.E181K|SLC9C1_uc010hqc.3_Missense_Mutation_p.E870K	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	918					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										TTTGATTTTTCAAGCTGTTCA	0.333000														45			12		0	0	0.00185496	0	0
SYNJ2	8871	broad.mit.edu	37	6	158514098	158514098	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:158514098C>T	uc003qqx.2	+	25	3812	c.3706C>T	c.(3706-3708)Cct>Tct	p.P1236S	SYNJ2_uc003qqw.2_Missense_Mutation_p.P1236S|SYNJ2_uc003qqy.2_Missense_Mutation_p.P999S|SYNJ2_uc003qqz.2_Missense_Mutation_p.P853S|SYNJ2_uc003qra.2_Missense_Mutation_p.P579S	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	1236	Pro-rich.						RNA binding|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ACCCAGAGTTCCTGCCATCAA	0.552000														16			5		0	0	0.000602214	0	0
DNAH5	1767	broad.mit.edu	37	5	13911527	13911527	+	Missense_Mutation	SNP	C	T	T	rs141651575		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:13911527C>T	uc003jfd.2	-	11	1654	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	538	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAAAACTCTTCGTAATCTTGG	0.343000									Kartagener syndrome					89			17		0	0	0.00229938	0	0
KRT80	144501	broad.mit.edu	37	12	52574432	52574432	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:52574432G>A	uc001rzw.3	-	1	687	c.636C>T	c.(634-636)tcC>tcT	p.S212S	KRT80_uc001rzy.3_Intron|KRT80_uc001rzx.3_Intron	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	0	Coil 1B.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GAGAGGGAATGGAGGGTCCCA	0.592000														10			6		0	0	0.00198382	0	0
SCAPER	49855	broad.mit.edu	37	15	77064234	77064234	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:77064234C>T	uc002bby.3	-	8	1156	c.1097G>A	c.(1096-1098)cGa>cAa	p.R366Q	SCAPER_uc002bbx.3_Missense_Mutation_p.R120Q|SCAPER_uc002bbz.1_Missense_Mutation_p.R231Q|SCAPER_uc002bca.1_Missense_Mutation_p.R231Q|SCAPER_uc002bcb.1_Missense_Mutation_p.R366Q|SCAPER_uc002bcc.1_Missense_Mutation_p.R366Q	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	365						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TTCAGAAGTTCGAACATAATT	0.353000														86			40		0	0	0.00195071	0	0
PSAPL1	768239	broad.mit.edu	37	4	7435758	7435758	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:7435758C>T	uc011bwj.2	-	0	943	c.849G>A	c.(847-849)caG>caA	p.Q283Q	SORCS2_uc003gkb.4_Intron|SORCS2_uc011bwi.2_Intron	NM_001085382	NP_001078851	Q6NUJ1	SAPL1_HUMAN	Homo sapiens prosaposin-like 1 (gene/pseudogene) (PSAPL1), mRNA.	283					sphingolipid metabolic process	extracellular region|lysosome				lung(4)	4						GCATCTCGCTCTGTTTCCTTG	0.592000														18			5		0	0	0.000602214	0	0
SLC47A2	146802	broad.mit.edu	37	17	19612071	19612071	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:19612071C>T	uc002gwe.4	-	5	664	c.489G>A	c.(487-489)gtG>gtA	p.V163V	SLC47A2_uc002gwg.4_Silent_p.V163V|SLC47A2_uc002gwf.4_Silent_p.V163V|SLC47A2_uc002gwh.4_Non-coding_Transcript|SLC47A2_uc002gwi.3_Non-coding_Transcript|SLC47A2_uc010cqs.1_Non-coding_Transcript|SLC47A2_uc010cqt.1_Non-coding_Transcript	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	Homo sapiens solute carrier family 47, member 2 (SLC47A2), transcript variant 1, mRNA.	163						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					AAAGAAAAATCACCTGTATGA	0.423000														53			17		0	0	0.00152264	0	0
MYO15A	51168	broad.mit.edu	37	17	18024939	18024939	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:18024939C>T	uc021trm.1	+	0	3044	c.2825C>T	c.(2824-2826)cCc>cTc	p.P942L	MYO15A_uc021trl.1_Missense_Mutation_p.P942L	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	942	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCACCCTCCCCCTGGCCAGGA	0.701000														2			3		0	0	0.00024832	0	0
DDX60L	91351	broad.mit.edu	37	4	169374299	169374299	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:169374299C>T	uc021xuh.1	-	6	1082	c.972G>A	c.(970-972)agG>agA	p.R324R	DDX60L_uc003irq.4_Silent_p.R324R|DDX60L_uc003irr.1_Silent_p.R324R|DDX60L_uc003irs.1_Silent_p.R51R	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	324							ATP binding|ATP-dependent helicase activity|RNA binding	p.W322_L330delWIRNSDSFL(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AATCACTGTTCCTAATCCAAG	0.368000														32			6		0	0	0.000274275	0	0
HERPUD2	64224	broad.mit.edu	37	7	35707140	35707140	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:35707140G>A	uc003tes.4	-	4	1057	c.398C>T	c.(397-399)gCt>gTt	p.A133V	HERPUD2_uc003tet.3_Missense_Mutation_p.A133V	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	Homo sapiens HERPUD family member 2 (HERPUD2), mRNA.	133	Ser-rich.				response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						AGAACCCACAGCTAAAGACAA	0.398000														77			15		0	0	0.000308642	0	0
ARNT2	9915	broad.mit.edu	37	15	80743333	80743333	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:80743333C>T	uc002bfr.3	+	1	310	c.144C>T	c.(142-144)tcC>tcT	p.S48S	ARNT2_uc002bfq.3_Silent_p.S48S|ARNT2_uc010unm.2_Silent_p.S37S|ARNT2_uc002bfs.3_Silent_p.S37S	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA.	48					central nervous system development|in utero embryonic development|response to hypoxia		DNA binding|aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			AGCGGCGTTCCGGGTAAGCGA	0.547000														44			11		0	0	0.00136819	0	0
KIAA1549	57670	broad.mit.edu	37	7	138603927	138603927	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:138603927C>T	uc011kql.2	-	1	494	c.445G>A	c.(445-447)Gag>Aag	p.E149K	KIAA1549_uc011kqj.2_Missense_Mutation_p.E149K	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	149						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						ACGGCCACCTCTTTACTCGTC	0.453000			O	BRAF	pilocytic astrocytoma									242			29		0	0	0.00058488	0	0
POLR3A	11128	broad.mit.edu	37	10	79778949	79778949	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:79778949G>A	uc001jzn.3	-	8	1393	c.1260C>T	c.(1258-1260)ttC>ttT	p.F420F		NM_007055	NP_008986	O14802	RPC1_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide A, 155kDa (POLR3A), mRNA.	420					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)			TCTGCTGAATGAAGTTTGCTC	0.413000														44			21		0	0	0.000878237	0	0
GPNMB	10457	broad.mit.edu	37	7	23300152	23300152	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:23300152C>T	uc003swc.3	+	5	939	c.778C>T	c.(778-780)Ccc>Tcc	p.P260S	GPNMB_uc003swb.3_Missense_Mutation_p.P260S|GPNMB_uc011jyy.2_Missense_Mutation_p.P202S|GPNMB_uc011jyz.2_Missense_Mutation_p.P161S	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	Homo sapiens glycoprotein (transmembrane) nmb (GPNMB), transcript variant 1, mRNA.	260	PKD.				negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CAAAGATCTCCCCATTATGTT	0.413000														114			19		0	0	0.00188189	0	0
NDNF	79625	broad.mit.edu	37	4	121958645	121958645	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:121958645C>T	uc003idq.1	-	3	1008	c.481G>A	c.(481-483)Gta>Ata	p.V161I		NM_024574	NP_078850	Q8TB73	CD031_HUMAN	Homo sapiens neuron-derived neurotrophic factor (NDNF), mRNA.	161										breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						GTGGCATATACTTTGAAATGT	0.438000														24			7		0	0	0.000274275	0	0
OR52B2	255725	broad.mit.edu	37	11	6191233	6191233	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:6191233C>T	uc010qzy.2	-	0	324	c.324G>A	c.(322-324)atG>atA	p.M108I		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCACAAACATCATATGGACAA	0.493000														33			8		0	0	0.000274275	0	0
AUTS2	26053	broad.mit.edu	37	7	70255391	70255391	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:70255391C>T	uc003tvw.4	+	18	3924	c.3189C>T	c.(3187-3189)taC>taT	p.Y1063Y	AUTS2_uc003tvx.4_Silent_p.Y1039Y|AUTS2_uc011keg.2_Silent_p.Y515Y	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	1063										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GCTTCCCGTACCCTTCTTTCC	0.612000														5			13		0	0	0.00136819	0	0
CYLC1	1538	broad.mit.edu	37	X	83128740	83128740	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:83128740G>A	uc004eei.1	+	3	1045	c.1024G>A	c.(1024-1026)Gat>Aat	p.D342N	CYLC1_uc004eeh.1_Missense_Mutation_p.D341N	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	342					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AGACTCaaaggatgaaaggaa	0.343000														14			5		0	0	0.000602214	0	0
NRP1	8829	broad.mit.edu	37	10	33496571	33496571	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:33496571C>T	uc001iwx.4	-	9	2211	c.1688G>A	c.(1687-1689)aGg>aAg	p.R563K	NRP1_uc001iwv.4_Missense_Mutation_p.R563K|NRP1_uc001iwy.4_Missense_Mutation_p.R563K|NRP1_uc009xlz.3_Missense_Mutation_p.R563K|NRP1_uc001iww.4_Missense_Mutation_p.R382K|NRP1_uc001iwz.2_Missense_Mutation_p.R563K|NRP1_uc001ixa.2_Missense_Mutation_p.R563K|NRP1_uc001ixb.2_Missense_Mutation_p.R563K	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	563	F5/8 type C 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GGGGTAGATCCTGATGAATCG	0.507000														57			17		0	0	0.000566183	0	0
HERC2	8924	broad.mit.edu	37	15	28473473	28473473	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:28473473G>A	uc001zbj.3	-	34	5461	c.5355C>T	c.(5353-5355)ttC>ttT	p.F1785F		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1785					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.R1784L(1)		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)		TCACCAGGAGGAAGCGGGCTT	0.612000														12			7		0	0	0.000157383	0	0
SORL1	6653	broad.mit.edu	37	11	121491895	121491895	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:121491895C>T	uc001pxx.3	+	43	6141	c.6012C>T	c.(6010-6012)atC>atT	p.I2004I	SORL1_uc010rzp.1_Silent_p.I850I|SORL1_uc010rzq.1_Silent_p.I619I	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	2004	Fibronectin type-III 5.				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)		AATACCACATCATTGTCCAAC	0.458000														28			31		0	0	0.0024448	0	0
OPN5	221391	broad.mit.edu	37	6	47749898	47749898	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:47749898G>A	uc003ozc.3	+	0	124	c.96G>A	c.(94-96)gcG>gcA	p.A32A		NM_181744	NP_859528	Q6U736	OPN5_HUMAN	Homo sapiens opsin 5 (OPN5), transcript variant 1, mRNA.	32					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity	p.A32V(1)		endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CTTGGGAAGCGGATTTAGTGG	0.443000														65			10		0	0	0.000673444	0	0
ZNF407	55628	broad.mit.edu	37	18	72632573	72632573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:72632573C>T	uc002llw.2	+	6	5406	c.5353C>T	c.(5353-5355)Ccg>Tcg	p.P1785S	ZNF407_uc010dqu.2_Missense_Mutation_p.P1785S	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1785					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GACCAACGTCCCGGTGGAGTT	0.483000														15			8		0	0	0.000157383	0	0
SPAM1	6677	broad.mit.edu	37	7	123599723	123599723	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:123599723G>A	uc003vle.3	+	4	1669	c.1230G>A	c.(1228-1230)gaG>gaA	p.E410E	SPAM1_uc011koa.1_Silent_p.E66E|SPAM1_uc003vld.3_Silent_p.E410E|SPAM1_uc022aks.1_Silent_p.E410E|SPAM1_uc003vlf.4_Silent_p.E410E|SPAM1_uc010lku.3_Silent_p.E410E	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	410					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.E410V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TTCAACTTGAGAAAGGTGGAA	0.403000														19			6		0	0	0.000157383	0	0
NT5C1A	84618	broad.mit.edu	37	1	40131798	40131798	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:40131798G>A	uc001cdq.1	-	1	246	c.246C>T	c.(244-246)taC>taT	p.Y82Y		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic IA (NT5C1A), mRNA.	82					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GTTCCAGCTGGTAGCGCACGT	0.577000														29			8		0	0	0.000157383	0	0
GPR139	124274	broad.mit.edu	37	16	20043949	20043949	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:20043949C>T	uc002dgu.1	-	1	332	c.170G>A	c.(169-171)aGa>aAa	p.R57K	GPR139_uc010vaw.1_5'UTR	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	57						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						CTTCTGTCTTCTTGCCACCAG	0.463000														39			10		0	0	0.00136819	0	0
HK2	3099	broad.mit.edu	37	2	75108954	75108954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:75108954C>T	uc002snd.3	+	10	3613	c.1687C>T	c.(1687-1689)Ccg>Tcg	p.P563S		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	563	Catalytic.				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						CTACGCCATCCCGCAGGAGGT	0.632000														18			4		0	0	0.000602214	0	0
VARS	7407	broad.mit.edu	37	6	31747781	31747781	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31747781G>A	uc003nxe.3	-	25	3498	c.3075C>T	c.(3073-3075)gtC>gtT	p.V1025V	VWA7_uc011dog.2_5'Flank|VWA7_uc003nxd.2_5'Flank|VWA7_uc011doh.1_5'Flank|VARS_uc021yuy.1_5'UTR	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	1025					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TCACCAAGTAGACATCACAGA	0.602000														225			38		0	0	0.00195071	0	0
C16orf62	57020	broad.mit.edu	37	16	19641094	19641094	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:19641094C>A	uc002dgn.2	+	17	1821	c.1506C>A	c.(1504-1506)taC>taA	p.Y502*	C16orf62_uc002dgo.2_Nonsense_Mutation_p.Y524*|C16orf62_uc002dgp.2_Nonsense_Mutation_p.Y251*	NM_020314	NP_064710	Q7Z3J2	CP062_HUMAN	Homo sapiens chromosome 16 open reading frame 62 (C16orf62), mRNA.	502						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TGTAGGACTACATTAATTGTG	0.378000														43			17		0.000958276	0.00320761	0.000958276	1	0
ANKRD35	148741	broad.mit.edu	37	1	145561741	145561741	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:145561741G>A	uc001eob.1	+	9	1537	c.1429G>A	c.(1429-1431)Ggc>Agc	p.G477S	ANKRD35_uc010oyx.1_Missense_Mutation_p.G320S	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	477										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGAACCAGGAGGCACAGTGGC	0.572000														53			13		0	0	0.00244969	0	0
SCN3A	6328	broad.mit.edu	37	2	166020975	166020975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:166020975C>T	uc002ucx.3	-	5	1021	c.529G>A	c.(529-531)Ggg>Agg	p.G177R	SCN3A_uc002ucy.3_Missense_Mutation_p.G177R|SCN3A_uc002ucz.3_Missense_Mutation_p.G177R|SCN3A_uc002uda.1_Missense_Mutation_p.G46R|SCN3A_uc002udb.1_Missense_Mutation_p.G46R	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	177						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AAGCAAAACCCTCTTGCCAAG	0.368000														30			20		0	0	0.00188189	0	0
LGI3	203190	broad.mit.edu	37	8	22006369	22006369	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:22006369C>T	uc003xav.3	-	7	1240	c.951G>A	c.(949-951)agG>agA	p.R317R	LGI3_uc010ltu.3_Silent_p.R293R	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.	317					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		TGTCTTGCAGCCTGGTGAAGC	0.602000														16			8		0	0	0.000442599	0	0
ACAN	176	broad.mit.edu	37	15	89398695	89398695	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:89398695G>A	uc010upo.1	+	11	3253	c.2879G>A	c.(2878-2880)gGa>gAa	p.G960E	ACAN_uc010upp.1_Missense_Mutation_p.G960E|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	960					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTTCCTTCTGGAGAAGTTCTA	0.567000														24			11		0	0	0.000978159	0	0
DOCK3	1795	broad.mit.edu	37	3	51400070	51400070	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:51400070C>T	uc011bds.2	+	48	5281	c.5258C>T	c.(5257-5259)tCc>tTc	p.S1753F		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1753	Ser-rich.					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)		TCAGCACCATCCCAGATGATT	0.562000														10			4		0	0	0.00116845	0	0
DICER1	23405	broad.mit.edu	37	14	95577700	95577700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:95577700G>A	uc001ydw.2	-	14	2422	c.2210C>T	c.(2209-2211)cCa>cTa	p.P737L	DICER1_uc021sbc.1_Missense_Mutation_p.P737L|DICER1_uc001ydv.2_Missense_Mutation_p.P727L|DICER1_uc001ydx.2_Missense_Mutation_p.P737L|DICER1_uc021sbd.1_Nonsense_Mutation_p.Q16*	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	737					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGGTCTTCCTGGAACACTGGT	0.428000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					84			31		0	0	0.000814825	0	0
FLOT2	2319	broad.mit.edu	37	17	27207791	27207791	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:27207791G>A	uc002hdc.3	-	9	1311	c.1188C>T	c.(1186-1188)aaC>aaT	p.N396N		NM_004475	NP_004466	Q14254	FLOT2_HUMAN	Homo sapiens flotillin 2 (FLOT2), mRNA.	396					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CCAGCAGTCGGTTCACTTCTG	0.567000														52			10		0	0	0.000673444	0	0
PPBP	5473	broad.mit.edu	37	4	74853054	74853054	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:74853054G>A	uc003hhj.3	-	2	409	c.322C>T	c.(322-324)Cca>Tca	p.P108S		NM_002704	NP_002695	P02775	CXCL7_HUMAN	Homo sapiens pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) (PPBP), mRNA.	108					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			GGAGCATCTGGGTCCAGGCAG	0.423000														41			7		0	0	0.00198382	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32224460	32224460	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:32224460T>C	uc002wzg.1	+	9	1807	c.1270T>C	c.(1270-1272)Ttc>Ctc	p.F424L	CBFA2T2_uc010zug.1_Missense_Mutation_p.F198L|CBFA2T2_uc002wze.1_Missense_Mutation_p.F415L|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Missense_Mutation_p.F395L|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript|CBFA2T2_uc002wzk.1_5'Flank	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	424						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TCAGAGAGAGTTCAACAGCAG	0.403000														170			42		0	0	0.000781405	0	0
OR9A4	130075	broad.mit.edu	37	7	141619141	141619141	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:141619141C>T	uc003vwu.1	+	0	466	c.466C>T	c.(466-468)Caa>Taa	p.Q156*		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GTTTCTTTTTCAAATCTGGCC	0.413000														132			26		0	0	0.000720815	0	0
NME8	51314	broad.mit.edu	37	7	37901712	37901712	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:37901712G>A	uc003tfn.3	+	6	725	c.353G>A	c.(352-354)aGa>aAa	p.R118K		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	118	Thioredoxin.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										GATGAGGAGAGAAAAATTGCA	0.338000														35			9		0	0	0.000442599	0	0
DDX31	64794	broad.mit.edu	37	9	135538037	135538037	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:135538037G>A	uc004cbq.1	-	1	588	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S	DDX31_uc010mzu.1_Missense_Mutation_p.P146S|DDX31_uc004cbr.1_Missense_Mutation_p.P146S|DDX31_uc004cbs.2_Missense_Mutation_p.P146S	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	146						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		TTCGCTGGGGGAGCCTCACTG	0.438000														38			7		0	0	0.00198382	0	0
DNTT	1791	broad.mit.edu	37	10	98092307	98092307	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:98092307C>T	uc001kmf.3	+	8	1483	c.1313C>T	c.(1312-1314)cCc>cTc	p.P438L	DNTT_uc001kmg.3_Missense_Mutation_p.P438L	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	438	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		GTTCTGTGCCCCTACGAGCGT	0.537000														31			17		0	0	0.000958276	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138507	126138507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:126138507G>A	uc001uhe.1	+	8	2496	c.2488G>A	c.(2488-2490)Gaa>Aaa	p.E830K	TMEM132B_uc001uhf.1_Missense_Mutation_p.E342K	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	830						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGCAGTCCAGGAATGGTTCCA	0.488000														17			15		0	0	0.000422831	0	0
GRIA4	2893	broad.mit.edu	37	11	105775927	105775927	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:105775927G>A	uc001pix.2	+	8	1504	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q	GRIA4_uc001piu.1_Missense_Mutation_p.R353Q|GRIA4_uc001piw.2_Missense_Mutation_p.R353Q|GRIA4_uc009yxk.1_Missense_Mutation_p.R353Q	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	353					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ACTTAGGTTCGAATTCAAGGG	0.383000														65			13		0	0	0.000566183	0	0
XRN1	54464	broad.mit.edu	37	3	142089449	142089449	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:142089449G>A	uc003eus.3	-	26	3149	c.3082C>T	c.(3082-3084)Caa>Taa	p.Q1028*	XRN1_uc010huu.3_Nonsense_Mutation_p.Q494*|XRN1_uc003eut.3_Nonsense_Mutation_p.Q1028*|XRN1_uc003euu.3_Nonsense_Mutation_p.Q1028*	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	1028					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ATAATTTCTTGAACTTTTTCA	0.269000														50			16		0	0	0.000566183	0	0
COL4A4	1286	broad.mit.edu	37	2	227920696	227920696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:227920696C>T	uc021vxr.1	-	28	2782	c.2681G>A	c.(2680-2682)gGa>gAa	p.G894E	COL4A4_uc021vxs.1_Missense_Mutation_p.G894E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	894	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCCATCATCTCCAAAGGGACC	0.592000														20			8		0	0	0.000274275	0	0
SLAMF9	89886	broad.mit.edu	37	1	159922153	159922153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:159922153G>A	uc001fus.3	-	2	680	c.563C>T	c.(562-564)tCc>tTc	p.S188F	SLAMF9_uc009wtd.3_Intron|SLAMF9_uc001fut.3_Intron	NM_033438	NP_254273	Q96A28	SLAF9_HUMAN	Homo sapiens SLAM family member 9 (SLAMF9), transcript variant 1, mRNA.	188	Ig-like C2-type.					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)			CGGCCTCCAGGATGTGCTGAG	0.582000														44			10		0	0	0.00136819	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18637278	18637278	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:18637278A>T	uc001moy.3	-	2	759	c.543T>A	c.(541-543)ttT>ttA	p.F181L	SPTY2D1_uc010rdi.1_Missense_Mutation_p.F181L	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA.	181										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						CCACTGGTTCAAACTGCTTTT	0.458000														85			23		0	0	0.00278032	0	0
CORIN	10699	broad.mit.edu	37	4	47695045	47695045	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:47695045C>T	uc003gxm.3	-	5	948	c.855G>A	c.(853-855)ggG>ggA	p.G285G	CORIN_uc011bzf.2_Silent_p.G146G|CORIN_uc011bzg.2_Silent_p.G218G|CORIN_uc011bzh.1_Silent_p.G285G|CORIN_uc011bzi.1_Silent_p.G285G|CORIN_uc003gxn.4_Silent_p.G285G	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	285	LDL-receptor class A 1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						ATTGCAGTTTCCCGGGGATGC	0.468000														23			14		0	0	0.00074312	0	0
TGIF2	60436	broad.mit.edu	37	20	35240525	35240525	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:35240525C>T	uc002xfr.3	+	2	549	c.331C>T	c.(331-333)Cgt>Tgt	p.R111C	TGIF2_uc002xfo.3_3'UTR|TGIF2_uc002xfs.3_3'UTR|TGIF2_uc002xfq.3_3'UTR|TGIF2_uc002xft.3_Non-coding_Transcript	NM_199483	NP_955777	Q9GZN2	TGIF2_HUMAN	Homo sapiens chromosome 20 open reading frame 24 (C20orf24), transcript variant 2, mRNA.	0	Repressive function.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGAACTTGATCGTTGGGGAAC	0.512000														152			49		0	0	0.000781405	0	0
ZNF138	7697	broad.mit.edu	37	7	64291840	64291840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:64291840C>T	uc011kdq.2	+	2	318	c.142C>T	c.(142-144)Cgt>Tgt	p.R48C	ZNF138_uc003ttg.3_Missense_Mutation_p.R17C|ZNF138_uc003tth.3_Non-coding_Transcript|ZNF138_uc010kzs.3_Missense_Mutation_p.R42C|ZNF138_uc011kdp.2_Silent_p.L119L	NM_006524	NP_006515	B4DP87	B4DP87_HUMAN	Homo sapiens zinc finger protein 138 (ZNF138), transcript variant 1, mRNA.	48					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				TCTGTGTTCTCGTTTTGCCCA	0.333000														101			17		0	0	0.00074312	0	0
GPR112	139378	broad.mit.edu	37	X	135431816	135431816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:135431816C>T	uc004ezu.1	+	5	6242	c.5951C>T	c.(5950-5952)cCt>cTt	p.P1984L	GPR112_uc010nsb.1_Missense_Mutation_p.P1779L|GPR112_uc010nsc.1_Missense_Mutation_p.P1751L	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1984					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)					TCTGTAACTCCTGGGACCACA	0.433000														25			10		0	0	0.000442599	0	0
FAM188B	84182	broad.mit.edu	37	7	30830930	30830930	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:30830930C>T	uc003tbt.3	+	4	890	c.813C>T	c.(811-813)tcC>tcT	p.S271S	FAM188B_uc010kwe.3_Silent_p.S242S	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	271										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCAGGACCTCCCTGGGTCAGC	0.607000														43			5		0	0	0.000602214	0	0
PAM	5066	broad.mit.edu	37	5	102343270	102343270	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:102343270C>T	uc003knt.3	+	18	2497	c.2124C>T	c.(2122-2124)atC>atT	p.I708I	PAM_uc003knw.3_Silent_p.I708I|PAM_uc003kns.3_Silent_p.I601I|PAM_uc003knu.3_Silent_p.I708I|PAM_uc011cuz.2_Silent_p.I611I|PAM_uc003knv.3_Silent_p.I708I|PAM_uc003knz.3_5'UTR	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	708	Peptidyl-alpha-hydroxyglycine alpha- amidating lyase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding	p.R707Q(1)		endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	ATGGTCGGATCCAGTGTTTTA	0.428000														39			18		0	0	0.000958276	0	0
DNAJC14	85406	broad.mit.edu	37	12	56188601	56188601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:56188601G>A	uc001sht.3	-	5	422	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	DNAJC14_uc009zoa.2_Non-coding_Transcript|DNAJC14_uc001shs.3_Non-coding_Transcript|DNAJC14_uc001shu.2_Missense_Mutation_p.R806W|DNAJC14_uc001shv.4_Missense_Mutation_p.R123W	NM_033082	NP_149073	Q6Y2X3	DJC14_HUMAN	Homo sapiens SAP domain containing ribonucleoprotein (SARNP), transcript variant 1, mRNA.	0					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						CTAGCTGCCCGAGCAGCTTTC	0.423000														32			9		0	0	0.000442599	0	0
FAT1	2195	broad.mit.edu	37	4	187628754	187628754	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:187628754T>A	uc003izf.3	-	1	2416	c.2228A>T	c.(2227-2229)gAc>gTc	p.D743V	FAT1_uc010iso.1_Missense_Mutation_p.D743V	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	743	Cadherin 6.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGTGTCAAGGTCAGTGGAGTT	0.423000										HNSCC(5;0.00058)				27			11		0	0	0.000673444	0	0
KCNB2	9312	broad.mit.edu	37	8	73848829	73848829	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:73848829C>T	uc003xzb.3	+	2	1827	c.1239C>T	c.(1237-1239)atC>atT	p.I413I		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	413					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCCTTCCTATCCCAATTATTG	0.443000														62			5		0	0	0.000602214	0	0
KLK1	3816	broad.mit.edu	37	19	51323257	51323257	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:51323257G>A	uc002ptk.1	-	3	570	c.531C>T	c.(529-531)ctC>ctT	p.L177L	KLK1_uc010ycg.1_Non-coding_Transcript	NM_002257	NP_002248	P06870	KLK1_HUMAN	Homo sapiens kallikrein 1 (KLK1), mRNA.	177	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAGGATTTTGAGGTCCACAC	0.537000														22			7		0	0	0.00198382	0	0
ZNF365	22891	broad.mit.edu	37	10	64136687	64136687	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:64136687G>A	uc001jmc.2	+	1	1050	c.735G>A	c.(733-735)agG>agA	p.R245R	ZNF365_uc001jly.4_Silent_p.R260R|ZNF365_uc001jmb.4_Silent_p.R245R|ZNF365_uc001jlz.4_Silent_p.R245R|ZNF365_uc001jma.4_Intron	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA.	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AGCTTCTTAGGAAAGAAGAGT	0.502000														38			10		0	0	0.00136819	0	0
RGR	5995	broad.mit.edu	37	10	86007459	86007459	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:86007459G>A	uc001kdd.1	+	1	230	c.192G>A	c.(190-192)ggG>ggA	p.G64G	RGR_uc001kdb.1_Missense_Mutation_p.D48N|RGR_uc001kdc.1_Silent_p.G64G|RGR_uc001kde.1_Silent_p.G64G	NM_002921	NP_002912	P47804	RGR_HUMAN	Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.	64					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CGGACAGTGGGATCAGCCTGA	0.632000														30			18		0	0	0.00152264	0	0
TSPYL6	388951	broad.mit.edu	37	2	54482763	54482763	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:54482763C>T	uc002rxr.2	-	0	647	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	ACYP2_uc002rxq.4_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	Homo sapiens TSPY-like 6 (TSPYL6), mRNA.	176					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						GCTCTGTTTTCTTCCGCCACG	0.617000														31			18		0	0	0.00188189	0	0
NLRP4	147945	broad.mit.edu	37	19	56369540	56369540	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:56369540C>T	uc002qmd.4	+	2	1203	c.781C>T	c.(781-783)Ctg>Ttg	p.L261L	NLRP4_uc002qmf.3_Silent_p.L186L|NLRP4_uc010etf.3_Silent_p.L92L	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	261	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GCAGGTGCTTCTGAGCAGTTT	0.582000														53			12		0	0	0.000422831	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99654713	99654713	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:99654713C>T	uc003uso.3	+	1	228	c.84C>T	c.(82-84)gtC>gtT	p.V28V	ZSCAN21_uc011kje.1_Silent_p.V27V|ZSCAN21_uc003usn.1_Silent_p.V27V	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	Homo sapiens zinc finger and SCAN domain containing 21 (ZSCAN21), mRNA.	28					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)			TGGTAAAAGTCGAGGAGAAAG	0.557000														59			98		0	0	0.000781405	0	0
ERCC6L	54821	broad.mit.edu	37	X	71427393	71427393	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:71427393C>T	uc004eaq.1	-	1	1321	c.1224G>A	c.(1222-1224)aaG>aaA	p.K408K	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Silent_p.K285K	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	408					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CACACAGCTTCTTTAAGACAC	0.443000														34			35		0	0	0.00058488	0	0
DCDC5	100506627	broad.mit.edu	37	11	30946866	30946866	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:30946866C>T	uc009yjk.1	-	10	1400	c.1331G>A	c.(1330-1332)aGa>aAa	p.R444K	DCDC5_uc001mss.1_Non-coding_Transcript|DCDC5_uc021qfk.1_Missense_Mutation_p.R103K	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	75					intracellular signal transduction					NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						CAGTTCATCTCTTTGCAGGTC	0.338000														106			25		0	0	0.000878237	0	0
CELSR2	1952	broad.mit.edu	37	1	109795165	109795165	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:109795165G>A	uc001dxa.4	+	0	2525	c.2464G>A	c.(2464-2466)Ggc>Agc	p.G822S		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	822	Cadherin 7.				Wnt receptor signaling pathway|dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent	cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCCTACCAGGGCAGTGTCTA	0.542000														168			38		0	0	0.00170553	0	0
NRCAM	4897	broad.mit.edu	37	7	107790410	107790410	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:107790410C>T	uc022aka.1	-	29	3966	c.3860G>A	c.(3859-3861)gGa>gAa	p.G1287E	NRCAM_uc011kmk.2_Missense_Mutation_p.G1194E|NRCAM_uc003vfd.3_Missense_Mutation_p.G1175E|NRCAM_uc003vfe.3_Missense_Mutation_p.G1163E|NRCAM_uc003vfc.3_Missense_Mutation_p.G1166E|NRCAM_uc003vez.3_Non-coding_Transcript|NRCAM_uc003vfa.3_Missense_Mutation_p.G131E|NRCAM_uc011kmj.2_Missense_Mutation_p.G133E	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	1287					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						GCTTTCGTTTCCTTCAGCCGG	0.418000														85			30		0	0	0.00209593	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253760	32253760	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:32253760C>T	uc002yov.3	-	0	115	c.84G>A	c.(82-84)acG>acA	p.T28T		NM_175858	NP_787054	Q8IUC1	KR111_HUMAN	Homo sapiens keratin associated protein 11-1 (KRTAP11-1), mRNA.	28						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						TGGTGGAAGTCGTGGTAACTT	0.557000														25			9		0	0	0.000673444	0	0
abParts	0	broad.mit.edu	37	15	22473327	22473327	+	RNA	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:22473327G>A	uc001yuj.2	-	5		c.84C>T								Parts of antibodies, mostly variable regions.																		CTGCCACCAGGAGGAGAAAGA	0.507000														28			7		0	0	0.000157383	0	0
TRIM39-RPP21	202658	broad.mit.edu	37	6	30309717	30309717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:30309717C>T	uc010jrz.3	+	8	1550	c.1238C>T	c.(1237-1239)tCc>tTc	p.S413F	TRIM39-RPP21_uc003npz.3_Missense_Mutation_p.S383F|TRIM39-RPP21_uc003nqb.3_Missense_Mutation_p.S383F|TRIM39-RPP21_uc003nqc.3_Missense_Mutation_p.S383F|TRIM39-RPP21_uc010jsa.2_Intron	NM_021253	NP_067076	A6ZJ12	A6ZJ12_HUMAN	Homo sapiens tripartite motif containing 39 (TRIM39), transcript variant 1, mRNA.	0						intracellular	zinc ion binding										TGCCGGGACTCCGTGAGCCGA	0.602000														33			5		0	0	0.000602214	0	0
TNRC6A	27327	broad.mit.edu	37	16	24801572	24801572	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:24801572C>T	uc002dmm.3	+	5	1723	c.1609C>T	c.(1609-1611)Cct>Tct	p.P537S	TNRC6A_uc010bxs.3_Missense_Mutation_p.P284S|TNRC6A_uc010vcc.1_Missense_Mutation_p.P284S|TNRC6A_uc002dmn.3_Missense_Mutation_p.P284S|TNRC6A_uc002dmo.3_Missense_Mutation_p.P284S	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	537	Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATGTTCAGGCCCTAATGGCCA	0.448000														83			20		0	0	0.00188189	0	0
ENPP6	133121	broad.mit.edu	37	4	185012430	185012430	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:185012430G>A	uc003iwc.3	-	7	1365	c.1223C>T	c.(1222-1224)tCc>tTc	p.S408F		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	408					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)		CATCACCCTGGACCAGGATCC	0.582000														64			7		0	0	0.00198382	0	0
DSPP	1834	broad.mit.edu	37	4	88533679	88533679	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:88533679G>A	uc003hqu.3	+	3	461	c.341G>A	c.(340-342)gGa>gAa	p.G114E		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	114					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	p.G114E(2)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GGGGACACAGGAAAAGCAGAA	0.433000														15			6		0	0	0.00198382	0	0
BAZ1B	9031	broad.mit.edu	37	7	72907212	72907212	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:72907212G>A	uc003tyc.3	-	4	963	c.611C>T	c.(610-612)tCa>tTa	p.S204L		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	204	Mediates the tyrosine-protein kinase activity.				ATP-dependent chromatin remodeling|DNA replication-dependent nucleosome disassembly|chromatin-mediated maintenance of transcription|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTTTTTTAATGAAGTAGGAAG	0.328000														140			19		0	0	0.00047179	0	0
F2	2147	broad.mit.edu	37	11	46750952	46750952	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:46750952G>A	uc001ndf.4	+	11	1538	c.1495G>A	c.(1495-1497)Ggg>Agg	p.G499R		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	499	Peptidase S1.				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)	TGGATACAAGGGGCGGGTGAC	0.612000														34			9		0	0	0.00185496	0	0
RASIP1	54922	broad.mit.edu	37	19	49243457	49243457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:49243457G>A	uc002pki.3	-	1	280	c.83C>T	c.(82-84)cCc>cTc	p.P28L		NM_017805	NP_060275	Q5U651	RAIN_HUMAN	Homo sapiens Ras interacting protein 1 (RASIP1), mRNA.	28					signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		CTGCTTCCTGGGGGAATTGAT	0.657000														18			8		0	0	0.000274275	0	0
ATP8B1	5205	broad.mit.edu	37	18	55352331	55352331	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:55352331G>A	uc002lgw.3	-	13	1566	c.1446C>T	c.(1444-1446)gcC>gcT	p.A482A	LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	482					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.A482V(1)		breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TGTGTTGAGAGGCATCCCGAT	0.478000														60			12		0	0	0.000308642	0	0
FHOD3	80206	broad.mit.edu	37	18	34335185	34335185	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:34335185C>T	uc021uiv.1	+	24	4433	c.4336C>T	c.(4336-4338)Cgc>Tgc	p.R1446C	FHOD3_uc002kzs.1_Missense_Mutation_p.R1271C|FHOD3_uc002kzt.1_Missense_Mutation_p.R1254C|FHOD3_uc010dmz.1_Missense_Mutation_p.R986C|FHOD3_uc010dnb.1_Missense_Mutation_p.R250C	NM_025135	NP_079411	Q2V2M9	FHOD3_HUMAN	Homo sapiens formin homology 2 domain containing 3 (FHOD3), mRNA.	1254					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACTAGAGTATCGCACAACCAG	0.433000														26			9		0	0	0.000274275	0	0
CCDC171	203238	broad.mit.edu	37	9	15744343	15744343	+	Missense_Mutation	SNP	C	T	T	rs144600578		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:15744343C>T	uc011lmu.2	+	15	2257	c.2146C>T	c.(2146-2148)Ctt>Ttt	p.L716F	CCDC171_uc010mih.1_Missense_Mutation_p.L716F|CCDC171_uc003zmd.3_Missense_Mutation_p.L708F|CCDC171_uc003zme.3_Missense_Mutation_p.L623F|CCDC171_uc003zmf.1_Missense_Mutation_p.L16F	NM_173550	NP_775821	Q6TFL3	CI093_HUMAN	Homo sapiens chromosome 9 open reading frame 93 (C9orf93), mRNA.	708																	ACAGTTGGTTCTTGAAAATTC	0.363000														32			9		0	0	0.000274275	0	0
MUC16	94025	broad.mit.edu	37	19	9066494	9066494	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9066494G>A	uc002mkp.3	-	2	21156	c.20952C>T	c.(20950-20952)tcC>tcT	p.S6984S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6986	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V6983V(1)		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						CTTCTGTCCTGGAGACCTCAG	0.483000														45			6		0	0	0.00116845	0	0
B4GALNT3	283358	broad.mit.edu	37	12	670597	670597	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:670597C>A	uc001qii.1	+	19	2977	c.2977C>A	c.(2977-2979)Cgc>Agc	p.R993S	B4GALNT3_uc001qik.1_Missense_Mutation_p.R542S	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	993						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			GTGGAGCCGTCGCCAGATGAA	0.622000														12			5		3.59834e-05	0.000120803	0.00116845	1	0
STAT3	6774	broad.mit.edu	37	17	40485735	40485735	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:40485735C>T	uc002hzl.1	-	9	1245	c.1005G>A	c.(1003-1005)cgG>cgA	p.R335R	STAT3_uc002hzk.1_Silent_p.R335R|STAT3_uc002hzm.1_Silent_p.R335R|STAT3_uc010wgh.1_Silent_p.R237R|STAT3_uc002hzn.1_Silent_p.R335R	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	335					JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		TGACGAGGGGCCGGTCAGGAT	0.567000									Hyperimmunoglobulin E Recurrent Infection Syndrome					42			9		0	0	0.000673444	0	0
TTN	7273	broad.mit.edu	37	2	179443704	179443704	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179443704C>T	uc021vsy.1	-	268	60574	c.60349G>A	c.(60349-60351)Gat>Aat	p.D20117N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D13812N|TTN_uc021vta.1_Missense_Mutation_p.D13745N|TTN_uc021vtb.1_Missense_Mutation_p.D13620N|AX746670_uc002umv.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21044	Fibronectin type-III 46.						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)			TTCACAGAATCCCTCTTCTCT	0.463000														15			7		0	0	0.000274275	0	0
GRIA4	2893	broad.mit.edu	37	11	105850360	105850360	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:105850360G>A	uc001pix.2	+	16	3049	c.2603G>A	c.(2602-2604)gGa>gAa	p.G868E	GRIA4_uc001piw.2_3'UTR|GRIA4_uc009yxl.1_Non-coding_Transcript	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	868					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GGGAGTGTGGGAGAGAATGGC	0.498000														43			10		0	0	0.000442599	0	0
SRSF3	6428	broad.mit.edu	37	6	36566732	36566732	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:36566732C>T	uc003omj.3	+	2	484	c.313C>T	c.(313-315)Cgt>Tgt	p.R105C	SRSF3_uc003omk.3_Non-coding_Transcript|SRSF3_uc011dtp.1_Missense_Mutation_p.R105C	NM_003017	NP_003008	P84103	SRSF3_HUMAN	Homo sapiens serine/arginine-rich splicing factor 3 (SRSF3), transcript variant 1, mRNA.	105	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	RNA binding|nucleotide binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						AGATGATTATCGTAGGAGGAG	0.488000														107			18		0	0	0.00121646	0	0
BBS9	27241	broad.mit.edu	37	7	33397504	33397504	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:33397504C>T	uc003tdn.1	+	15	2103	c.1590C>T	c.(1588-1590)ccC>ccT	p.P530P	BBS9_uc003tdo.1_Silent_p.P495P|BBS9_uc003tdp.1_Silent_p.P525P|BBS9_uc003tdq.1_Silent_p.P490P|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Silent_p.P54P|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Silent_p.P408P	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	530					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTAGACTTCCCCTAAAGTTAA	0.348000									Bardet-Biedl syndrome					148			23		0	0	0.000586117	0	0
WDR33	55339	broad.mit.edu	37	2	128467156	128467156	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:128467156C>T	uc002tpg.2	-	20	3672	c.3473_splice	c.e20-1	p.G1158_splice		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	1158					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)		CTTCCTTCCTCCTACACAACA	0.502000														38			11		0	0	0.000673444	0	0
FILIP1L	11259	broad.mit.edu	37	3	99567893	99567893	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:99567893C>T	uc003dtm.3	-	4	3090	c.2627G>A	c.(2626-2628)gGa>gAa	p.G876E	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Missense_Mutation_p.G876E|FILIP1L_uc010hpf.3_Missense_Mutation_p.G452E|FILIP1L_uc010hpg.3_Missense_Mutation_p.G636E|FILIP1L_uc003dtn.3_Missense_Mutation_p.G636E|FILIP1L_uc021xbr.1_Missense_Mutation_p.G636E|FILIP1L_uc003dtp.1_Missense_Mutation_p.G636E	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	876						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TTGCATTTTTCCATTCTGAAG	0.463000														63			19		0	0	0.00121646	0	0
OPTC	26254	broad.mit.edu	37	1	203467963	203467963	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:203467963G>A	uc001gzu.1	+	3	641	c.525G>A	c.(523-525)ggG>ggA	p.G175G		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	Homo sapiens opticin (OPTC), mRNA.	175						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			ACTTCAAAGGGCTGAGTATGT	0.557000														33			7		0	0	0.00198382	0	0
GALNT3	2591	broad.mit.edu	37	2	166615345	166615345	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:166615345G>A	uc010fph.1	-	5	1490	c.1103C>T	c.(1102-1104)tCc>tTc	p.S368F	GALNT3_uc010fpi.1_Missense_Mutation_p.S368F	NM_004482	NP_004473	Q14435	GALT3_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (GALNT3), mRNA.	368	Catalytic subdomain B.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.S368P(1)		NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						TTTTGATATGGAAAAAAGTCC	0.299000														119			22		0	0	0.00047179	0	0
UGT2B4	7363	broad.mit.edu	37	4	70346364	70346364	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:70346364C>T	uc003hek.4	-	5	1622	c.1575G>A	c.(1573-1575)ggG>ggA	p.G525G	UGT2B4_uc011cap.2_Silent_p.G389G|UGT2B4_uc003hel.4_3'UTR	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	525					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.G525R(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AATCTCTTTTCCCCTTCTTTC	0.408000														36			9		0	0	0.000978159	0	0
OR12D2	26529	broad.mit.edu	37	6	29364593	29364593	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:29364593G>A	uc003nmf.4	+	0	178	c.117G>A	c.(115-117)ggG>ggA	p.G39G		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GTGTGACTGGGAATGGAGCCG	0.458000														52			7		0	0	0.00198382	0	0
OBSCN	84033	broad.mit.edu	37	1	228434376	228434376	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:228434376C>T	uc009xez.1	+	12	3949	c.3905C>T	c.(3904-3906)tCg>tTg	p.S1302L	OBSCN_uc001hsn.3_Missense_Mutation_p.S1302L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1302	Ig-like 13.|Poly-Ser.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCTCCAGTTCGAAAGTGCGC	0.647000														63			12		0	0	0.00185496	0	0
USP54	159195	broad.mit.edu	37	10	75258467	75258467	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:75258467C>T	uc001juo.3	-	21	4992	c.4975G>A	c.(4975-4977)Gag>Aag	p.E1659K	PPP3CB_uc001juf.3_5'Flank|PPP3CB_uc001jue.3_5'Flank|PPP3CB_uc001jug.3_5'Flank|PPP3CB_uc001juh.2_5'Flank|PPP3CB_uc001jui.2_5'Flank|USP54_uc010qkk.2_Missense_Mutation_p.E794K|USP54_uc001juk.3_Missense_Mutation_p.E747K|USP54_uc001jul.3_Missense_Mutation_p.E700K|USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Non-coding_Transcript	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	1659					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AGAAACCCCTCTCCCACTGTT	0.517000														28			11		0	0	0.000978159	0	0
ATG2A	23130	broad.mit.edu	37	11	64665342	64665342	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:64665342A>G	uc001obx.3	-	34	5078	c.4963T>C	c.(4963-4965)Tcc>Ccc	p.S1655P	ATG2A_uc001obw.3_Missense_Mutation_p.S420P	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1655							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TCAGGAGGGGAGGGGCTGTGT	0.682000														15			4		0	0	0.00024832	0	0
FAM170A	340069	broad.mit.edu	37	5	118968463	118968463	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:118968463G>A	uc003ksm.2	+	1	301	c.91G>A	c.(91-93)Gat>Aat	p.D31N	FAM170A_uc003ksl.2_Missense_Mutation_p.D31N|FAM170A_uc003ksn.3_Missense_Mutation_p.D31N|FAM170A_uc003kso.3_Intron	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	31						intracellular	zinc ion binding	p.D31H(3)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						GTCCCAAGAGGATGCCCTGCA	0.468000														15			16		0	0	0.000958276	0	0
GEM	2669	broad.mit.edu	37	8	95265325	95265325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:95265325C>T	uc003ygi.3	-	2	471	c.347G>A	c.(346-348)cGa>cAa	p.R116Q	GEM_uc003ygj.3_Missense_Mutation_p.R116Q	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	116					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|calmodulin binding|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATCAGGGTTCGTTCATATGT	0.413000														79			10		0	0	0.00244969	0	0
MCTP2	55784	broad.mit.edu	37	15	94983425	94983425	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:94983425G>A	uc002btj.3	+	16	2171	c.2106G>A	c.(2104-2106)tgG>tgA	p.W702*	MCTP2_uc010boj.3_Nonsense_Mutation_p.W431*|MCTP2_uc010bok.3_Intron|MCTP2_uc002btl.3_Nonsense_Mutation_p.W290*	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	702					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	p.W702*(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCACTGTCTGGAATTTTGAAC	0.393000														92			23		0	0	0.000720815	0	0
ZNF512B	57473	broad.mit.edu	37	20	62598817	62598817	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:62598817G>A	uc002yhl.1	-	2	235	c.181C>T	c.(181-183)Ccg>Tcg	p.P61S		NM_020713	NP_065764	Q96KM6	Z512B_HUMAN	Homo sapiens zinc finger protein 512B (ZNF512B), mRNA.	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			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)					GGACTTCCCGGGTCAAAGCAG	0.617000														52			32		0	0	0.000692331	0	0
TRIO	7204	broad.mit.edu	37	5	14477057	14477057	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:14477057C>T	uc003jff.3	+	40	6144	c.6138C>T	c.(6136-6138)tcC>tcT	p.S2046S	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Silent_p.S1695S	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2046	DH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AACTAGGATCCCTTTTTGTTA	0.373000														34			15		0	0	0.000566183	0	0
STAB2	55576	broad.mit.edu	37	12	104033936	104033936	+	Silent	SNP	C	T	T	rs144975292		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:104033936C>T	uc001tjw.3	+	8	1128	c.942C>T	c.(940-942)ttC>ttT	p.F314F		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	314					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.F314F(2)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ACCAGAATTTCGTACCTGGAG	0.448000														44			27		0	0	0.001512	0	0
CSMD3	114788	broad.mit.edu	37	8	113318415	113318415	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:113318415G>A	uc003ynu.3	-	50	8051	c.7892C>T	c.(7891-7893)tCc>tTc	p.S2631F	CSMD3_uc003yns.3_Missense_Mutation_p.S1833F|CSMD3_uc003ynt.3_Missense_Mutation_p.S2591F|CSMD3_uc011lhx.2_Missense_Mutation_p.S2527F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2631	Sushi 15.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATCCCACAGGAAATTGCTAG	0.338000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				33			6		0	0	0.00116845	0	0
ZNF57	126295	broad.mit.edu	37	19	2916093	2916093	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:2916093A>C	uc002lwr.3	+	2	296	c.148A>C	c.(148-150)Aaa>Caa	p.K50Q	ZNF57_uc010xha.2_Missense_Mutation_p.K18Q	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	Homo sapiens zinc finger protein 57 (ZNF57), mRNA.	50	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		GACTCAATTTAAAGCCAATGG	0.378000														54			9		0	0	0.000978159	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174354	150174354	+	Missense_Mutation	SNP	C	T	T	rs138720266		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:150174354C>T	uc003whj.3	+	4	1814	c.1484C>T	c.(1483-1485)cCt>cTt	p.P495L		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	495						Golgi apparatus|endoplasmic reticulum|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		GTGGACACTCCTTCCTTCAAC	0.562000														67			5		0	0	0.00198382	0	0
CIT	11113	broad.mit.edu	37	12	120151339	120151339	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:120151339G>A	uc001txj.2	-	33	4477	c.4421C>T	c.(4420-4422)tCc>tTc	p.S1474F	CIT_uc001txh.2_Missense_Mutation_p.S951F|CIT_uc001txi.2_Missense_Mutation_p.S1432F	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1432	PH.				intracellular signal transduction		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.S1432F(1)|p.S1460F(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GAGACCTGGGGAGTTCATTTT	0.602000														25			7		0	0	0.000442599	0	0
ANKRD10	55608	broad.mit.edu	37	13	111558405	111558405	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:111558405G>A	uc001vrn.3	-	2	565	c.430C>T	c.(430-432)Ctt>Ttt	p.L144F	ANKRD10_uc001vro.1_Missense_Mutation_p.L144F	NM_017664	NP_060134	Q9NXR5	ANR10_HUMAN	Homo sapiens ankyrin repeat domain 10 (ANKRD10), mRNA.	144										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			TTCGCCACAAGGGCACTGATG	0.433000														10			5		0	0	0.00116845	0	0
CDH22	64405	broad.mit.edu	37	20	44803320	44803320	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:44803320T>G	uc002xrm.2	-	10	2711	c.2312A>C	c.(2311-2313)cAg>cCg	p.Q771P	CDH22_uc010ghk.1_Missense_Mutation_p.Q771P	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	771					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GGCGTAGGTCTGGAAGGCGTC	0.687000														3			4		0	0	0.000602214	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138437493	138437493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:138437493C>T	uc003vuf.3	-	9	1144	c.906G>A	c.(904-906)atG>atA	p.M302I	ATP6V0A4_uc003vug.3_Missense_Mutation_p.M302I|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.M302I	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	302					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGACAGCTTTCATCTTCTGCA	0.537000														82			8		0	0	0.000157383	0	0
VILL	50853	broad.mit.edu	37	3	38040892	38040892	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:38040892C>T	uc003chj.3	+	10	1430	c.1144C>T	c.(1144-1146)Cag>Tag	p.Q382*	VILL_uc003chl.3_Nonsense_Mutation_p.Q382*|VILL_uc010hgu.3_Nonsense_Mutation_p.Q212*	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	382					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GTTAGCGGCCCAGCTCAGGAT	0.592000														41			12		0	0	0.000422831	0	0
SLC25A1	6576	broad.mit.edu	37	22	19163960	19163960	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:19163960C>T	uc021wlb.1	-	6	821	c.816G>A	c.(814-816)caG>caA	p.Q272Q	SLC25A1_uc002zoy.3_Silent_p.Q162Q|SLC25A1_uc002zoz.3_Silent_p.Q265Q	NM_005984	NP_005975	P53007	TXTP_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 (SLC25A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	265					gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		TCTTCAGGATCTGCAAGCCGC	0.642000														37			5		0	0	0.00198382	0	0
MUC16	94025	broad.mit.edu	37	19	9070251	9070251	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9070251G>A	uc002mkp.3	-	2	17399	c.17195C>T	c.(17194-17196)tCa>tTa	p.S5732L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5734	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						AGAAGATTGTGATTCATGTCC	0.488000														14			6		0	0	0.000274275	0	0
VDAC3	7419	broad.mit.edu	37	8	42260888	42260888	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:42260888C>G	uc022aul.1	+	6	616	c.614C>G	c.(613-615)aCa>aGa	p.T205R	VDAC3_uc003xpc.3_Missense_Mutation_p.T204R|VDAC3_uc011lct.2_Missense_Mutation_p.T204R	NM_001135694	NP_001129166	Q9Y277	VDAC3_HUMAN	Homo sapiens voltage-dependent anion channel 3 (VDAC3), transcript variant 2, mRNA.	204					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	AAGATTGAAACATCCATAAAC	0.398000														112			5		0	0	0.00116845	0	0
UGT1A1	54658	broad.mit.edu	37	2	234622120	234622121	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:234622120_234622121GG>AT	uc002vuw.3	+	0	483_484	c.483_484GG>AT	c.(481-486)ctggct>ctATct	p.A162S	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Missense_Mutation_p.A162S	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	161					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)	CGGCGGTGCTGGCTAAGTACCT	0.495000														102			22		0	0	6.4e-05	0	0
TECTA	7007	broad.mit.edu	37	11	121032793	121032793	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:121032793C>T	uc010rzo.2	+	14	4986	c.4986C>T	c.(4984-4986)gcC>gcT	p.A1662A		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1662	VWFD 4.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GACCTCTTGCCCCCAGCTGCA	0.507000														36			30		0	0	0.000692331	0	0
MAGI2	9863	broad.mit.edu	37	7	77824279	77824279	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:77824279G>A	uc003ugx.3	-	11	2435	c.2181C>T	c.(2179-2181)tcC>tcT	p.S727S	MAGI2_uc003ugy.3_Silent_p.S727S|MAGI2_uc010ldx.1_Silent_p.S336S|MAGI2_uc010ldy.1_Silent_p.S336S	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	727						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGTCAGGAAAGGAGCTCCTGT	0.517000														76			8		0	0	0.000274275	0	0
PLCB4	5332	broad.mit.edu	37	20	9449315	9449315	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:9449315G>A	uc021wam.1	+	31	3325	c.3310G>A	c.(3310-3312)Gaa>Aaa	p.E1104K	PLCB4_uc010gbx.3_Missense_Mutation_p.E1116K|PLCB4_uc021wal.1_Missense_Mutation_p.E1104K|PLCB4_uc002wnh.3_Missense_Mutation_p.E951K	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	1104					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						AGCAGAACGGGAAAGGTAAGT	0.418000														52			11		0	0	0.000978159	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18644479	18644479	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:18644479G>A	uc001rdt.3	+	18	2773	c.2657G>A	c.(2656-2658)gGg>gAg	p.G886E	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.G927E|PIK3C2G_uc010sic.2_Missense_Mutation_p.G705E	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	886					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TGTATAAAAGGGATTGATCAC	0.338000														71			13		0	0	0.00185496	0	0
PCOLCE	5118	broad.mit.edu	37	7	100200102	100200102	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:100200102C>T	uc003uvo.3	+	0	221	c.23C>T	c.(22-24)tCc>tTc	p.S8F	LOC100129845_uc011kjy.2_Non-coding_Transcript|LOC100129845_uc022air.1_Intron|PCOLCE_uc011kkb.1_Missense_Mutation_p.S8F	NM_002593	NP_002584	Q15113	PCOC1_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer (PCOLCE), mRNA.	8					multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GCCACAGCCTCCCTCCTGGGG	0.657000														59			12		0	0	0.00136819	0	0
POLQ	10721	broad.mit.edu	37	3	121228972	121228972	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:121228972A>G	uc003eee.4	-	10	1859	c.1730T>C	c.(1729-1731)gTt>gCt	p.V577A		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	577					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TCCAAGCTGAACAGACTCTTG	0.433000								DNA polymerases (catalytic subunits)						121			17		0	0	0.000566183	0	0
IL17A	3605	broad.mit.edu	37	6	52052459	52052459	+	Missense_Mutation	SNP	G	A	A	rs144233360	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:52052459G>A	uc003pak.1	+	1	131	c.86G>A	c.(85-87)cGa>cAa	p.R29Q		NM_002190	NP_002181	Q16552	IL17_HUMAN	Homo sapiens interleukin 17A (IL17A), mRNA.	29					apoptosis|cell-cell signaling|fibroblast activation|immune response|inflammatory response|positive regulation of interleukin-23 production|positive regulation of osteoclast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein glycosylation	extracellular space	cytokine activity	p.P28Q(1)		endometrium(3)|large_intestine(2)|lung(8)|prostate(3)|skin(1)	17	Lung NSC(77;0.116)					ACAATCCCACGAAATCCAGGA	0.483000														106			18		0	0	0.00121646	0	0
OR8U8	504189	broad.mit.edu	37	11	56143526	56143526	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:56143526C>T	uc001nit.2	+	0	427	c.427C>T	c.(427-429)Caa>Taa	p.Q143*		NM_001013356	NP_001013374	P0C7N1	OR8U8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily U, member 8 (OR8U8), mRNA.	143					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										AATCTGCATTCAACTTGTAGC	0.443000														44			17		0	0	0.000422831	0	0
P2RY10	27334	broad.mit.edu	37	X	78216316	78216316	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:78216316C>T	uc022bzl.1	+	0	299	c.299C>T	c.(298-300)cCt>cTt	p.P100L	P2RY10_uc004ede.3_Missense_Mutation_p.P100L|P2RY10_uc004edf.3_Missense_Mutation_p.P100L	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	100						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CACCACTGGCCTTTCCAGAGA	0.448000														37			9		0	0	0.000978159	0	0
ARID1B	57492	broad.mit.edu	37	6	157505554	157505554	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:157505554C>T	uc003qqp.3	+	11	3496	c.3496C>T	c.(3496-3498)Cag>Tag	p.Q1166*	ARID1B_uc003qqo.3_Nonsense_Mutation_p.Q1179*|ARID1B_uc003qqn.3_Nonsense_Mutation_p.Q1219*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1166					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCCCAAGCTCCAGCCGCCATC	0.617000														14			6		0	0	0.000157383	0	0
RFX4	5992	broad.mit.edu	37	12	107155102	107155102	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:107155102C>T	uc001tlt.3	+	17	2230	c.2090C>T	c.(2089-2091)cCg>cTg	p.P697L	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Missense_Mutation_p.P688L|RFX4_uc001tlv.3_Missense_Mutation_p.P594L	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	688					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TACACAAGCCCGTCTGTGCAT	0.532000														33			9		0	0	0.000673444	0	0
MATR3	9782	broad.mit.edu	37	5	138661119	138661120	+	Missense_Mutation	DNP	TG	GC	GC			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:138661119_138661120TG>GC	uc003ldw.3	+	13	2686_2687	c.2283_2284TG>GC	c.(2281-2286)gttgaa>gtGCaa	p.E762Q	MATR3_uc003ldt.3_Intron|MATR3_uc003ldu.3_Intron|MATR3_uc010jfb.3_Intron|MATR3_uc003ldx.3_Intron|MATR3_uc003ldz.3_Intron|MATR3_uc011czb.2_Intron|MATR3_uc003leb.3_Intron|MATR3_uc003lec.3_Intron	NM_018834	NP_954659	P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.	715						nuclear inner membrane|nuclear matrix	RNA binding|nucleotide binding|protein binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			ATGGTTTGGTTGAAATTAAGGT	0.401000														47			9		0	0	6.4e-05	0	0
MYH9	4627	broad.mit.edu	37	22	36696966	36696966	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:36696966C>T	uc003apg.3	-	21	3000	c.2769G>A	c.(2767-2769)agG>agA	p.R923R	MYH9_uc003aph.1_Silent_p.R787R	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	923					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	ADP binding|ATP binding|actin filament binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CCTCCTCCACCCTGGCCTCTA	0.637000			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated					49			31		0	0	0.00111076	0	0
KLHL6	89857	broad.mit.edu	37	3	183217466	183217466	+	Silent	SNP	G	A	A	rs3732586	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:183217466G>A	uc003flr.3	-	3	1117	c.1059C>T	c.(1057-1059)ctC>ctT	p.L353L	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Intron	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	353										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			CTGTTAGCGGGAGCTTGGCCA	0.547000														43			16		0	0	0.000958276	0	0
ZNF860	344787	broad.mit.edu	37	3	32031661	32031661	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:32031661C>T	uc011axg.2	+	1	1639	c.1090C>T	c.(1090-1092)Cac>Tac	p.H364Y	ZNF860_uc021wuv.1_Missense_Mutation_p.H364Y	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						CACTAGAATTCACACTGGAGA	0.413000														18			7		0	0	0.000157383	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43195138	43195138	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:43195138G>A	uc003bdd.2	-	14	1660	c.1440C>T	c.(1438-1440)ccC>ccT	p.P480P	ARFGAP3_uc010gzf.2_Silent_p.P436P	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 3 (ARFGAP3), transcript variant 1, mRNA.	480					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						CGGGGGCGTTGGGCAGCACAC	0.567000														51			6		0	0	0.00116845	0	0
OR1N2	138882	broad.mit.edu	37	9	125316141	125316141	+	Silent	SNP	C	T	T	rs148945100		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:125316141C>T	uc011lyx.2	+	0	693	c.693C>T	c.(691-693)atC>atT	p.I231I		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L230L(1)		breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCCTGCTGATCGTCTTCTCCT	0.522000														26			16		0	0	0.00074312	0	0
NWD1	284434	broad.mit.edu	37	19	16918718	16918718	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:16918718G>A	uc002neu.4	+	17	4480	c.4058G>A	c.(4057-4059)aGc>aAc	p.S1353N	NWD1_uc002net.4_Missense_Mutation_p.S1218N|NWD1_uc002nev.4_Missense_Mutation_p.S1147N|NWD1_uc021uqg.1_Missense_Mutation_p.S1218N	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1353							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACCCTCTCCAGCGTGGCCATT	0.572000														61			13		0	0	0.000566183	0	0
AQR	9716	broad.mit.edu	37	15	35192911	35192911	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:35192911G>A	uc001ziv.3	-	19	2336	c.2155C>T	c.(2155-2157)Ctc>Ttc	p.L719F		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	719						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TCAATGGAGAGAAATGTATCA	0.413000														53			8		0	0	0.000442599	0	0
PKP2	5318	broad.mit.edu	37	12	33031083	33031083	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:33031083G>A	uc001rlj.4	-	2	846	c.731C>T	c.(730-732)cCc>cTc	p.P244L	PKP2_uc001rlk.4_Missense_Mutation_p.P244L|PKP2_uc010skj.2_Missense_Mutation_p.P244L	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	244					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CCCTGGCCTGGGGTACGTGAG	0.622000														26			4		0	0	0.000602214	0	0
TRPM6	140803	broad.mit.edu	37	9	77386640	77386640	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:77386640C>T	uc004ajl.1	-	24	3753	c.3515G>A	c.(3514-3516)cGa>cAa	p.R1172Q	TRPM6_uc004ajk.1_Missense_Mutation_p.R1167Q|TRPM6_uc022bib.1_Missense_Mutation_p.R1167Q|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.R128Q	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1172					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CACTCGGATTCGTTCCTCACA	0.368000														51			10		0	0	0.00136819	0	0
CFTR	1080	broad.mit.edu	37	7	117175444	117175444	+	Missense_Mutation	SNP	G	A	A	rs121908804		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:117175444G>A	uc003vjd.3	+	5	854	c.722G>A	c.(721-723)gGg>gAg	p.G241E	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	241	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GCTGGGCTAGGGAGAATGATG	0.433000									Cystic Fibrosis					66			10		0	0	0.00136819	0	0
FLNB	2317	broad.mit.edu	37	3	58121716	58121716	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:58121716G>A	uc003djj.2	+	27	4847	c.4682G>A	c.(4681-4683)gGa>gAa	p.G1561E	FLNB_uc010hne.2_Missense_Mutation_p.G1592E|FLNB_uc003djk.2_Missense_Mutation_p.G1561E|FLNB_uc010hnf.2_Missense_Mutation_p.G1561E|FLNB_uc003djl.2_Missense_Mutation_p.G1392E|FLNB_uc003djm.2_Missense_Mutation_p.G1392E	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	1561					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GACCAAGAAGGAAAACCCAAA	0.423000														21			7		0	0	0.000157383	0	0
MUC16	94025	broad.mit.edu	37	19	9020785	9020785	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9020785G>A	uc002mkp.3	-	19	37521	c.37317C>T	c.(37315-37317)ggC>ggT	p.G12439G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12441	SEA 3.				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						TCAGTCTGCAGCCAGAGTACA	0.542000														23			7		0	0	0.000157383	0	0
BIN2	51411	broad.mit.edu	37	12	51685531	51685531	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:51685531C>T	uc001ryg.3	-	9	1411	c.1359G>A	c.(1357-1359)ggG>ggA	p.G453G	BIN2_uc009zlz.3_Silent_p.G421G|BIN2_uc001ryh.3_Silent_p.G329G|BIN2_uc010sng.2_Silent_p.G427G	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	453	Pro-rich.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CAGTCCCAGTCCCCAAGGAGG	0.577000														19			4		0	0	0.00024832	0	0
ALDH1A2	8854	broad.mit.edu	37	15	58252978	58252978	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:58252978C>T	uc002aex.3	-	11	1747	c.1474G>A	c.(1474-1476)Ggg>Agg	p.G492R	ALDH1A2_uc010ugv.2_Missense_Mutation_p.G471R|ALDH1A2_uc002aey.3_Missense_Mutation_p.G454R|ALDH1A2_uc010ugw.2_Missense_Mutation_p.G463R|ALDH1A2_uc002aew.3_Missense_Mutation_p.G396R	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	492					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ATTTCTCTCCCATTTCCAGAC	0.383000														33			6		0	0	0.00198382	0	0
CYP2D6	1565	broad.mit.edu	37	22	42525764	42525764	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:42525764G>A	uc003bce.3	-	1	418	c.328C>T	c.(328-330)Ctg>Ttg	p.L110L	LOC100132273_uc003bcd.1_Intron|CYP2D6_uc010gyu.3_5'UTR|CYP2D6_uc003bcf.3_Silent_p.L110L	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6), transcript variant 1, mRNA.	110							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCGAAACCCAGGATCTGGGTG	0.697000														20			4		0	0	0.000602214	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420921	55420921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:55420921G>A	uc001sgp.4	+	1	1076	c.698G>A	c.(697-699)gGa>gAa	p.G233E	NEUROD4_uc021qyr.1_Missense_Mutation_p.G233E	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	233					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						AAGAGTTTGGGAGAATCGTCC	0.517000														18			4		0	0	0.000602214	0	0
PREX2	80243	broad.mit.edu	37	8	68950452	68950452	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:68950452T>C	uc003xxv.1	+	6	791	c.764T>C	c.(763-765)aTt>aCt	p.I255T	PREX2_uc003xxu.1_Missense_Mutation_p.I255T|PREX2_uc011lez.1_Missense_Mutation_p.I190T	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	255	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTACTGAAAATTTCTTCTGGA	0.388000														32			10		0	0	0.000442599	0	0
SCN9A	6335	broad.mit.edu	37	2	167055571	167055571	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:167055571G>A	uc010fpl.3	-	26	5886	c.5545C>T	c.(5545-5547)Cgt>Tgt	p.R1849C	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1860						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)	ATCTGTGAACGAAGAGAATCC	0.453000														87			39		0	0	0.00195071	0	0
GPR4	2828	broad.mit.edu	37	19	46094750	46094750	+	Silent	SNP	G	A	A	rs144692714		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:46094750G>A	uc002pcm.3	-	1	1320	c.375C>T	c.(373-375)ttC>ttT	p.F125F	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Silent_p.F125F	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	125						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GCAGGCGGGCGAAGCGGAGTG	0.642000														15			5		0	0	0.000602214	0	0
LOC649330	649330	broad.mit.edu	37	1	12907783	12907783	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:12907783A>T	uc010obf.2	-	1	586	c.360T>A	c.(358-360)taT>taA	p.Y120*	LOC649330_uc009vno.2_Nonsense_Mutation_p.Y120*	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	120							nucleic acid binding|nucleotide binding										ACATTCCATCATAATAATCCC	0.502000														18			6		0	0	0.00116845	0	0
ASAP3	55616	broad.mit.edu	37	1	23758348	23758348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:23758348G>A	uc001bha.2	-	22	2511	c.2387C>T	c.(2386-2388)cCa>cTa	p.P796L	ASAP3_uc001bgy.1_Missense_Mutation_p.P300L|ASAP3_uc010odz.1_Missense_Mutation_p.P686L|ASAP3_uc010oea.1_Missense_Mutation_p.P787L	NM_017707	NP_060177	Q8TDY4	ASAP3_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 3 (ASAP3), transcript variant 1, mRNA.	796					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			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						GGAGGAGGCTGGACTGCCCAG	0.582000														50			16		0	0	0.00152264	0	0
HEATR8	374977	broad.mit.edu	37	1	55119556	55119556	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:55119556C>T	uc010ooe.1	+	2	1281	c.957C>T	c.(955-957)tcC>tcT	p.S319S	HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc001cxo.2_Silent_p.S319S|HEATR8_uc010ooc.1_Intron|HEATR8_uc010ood.1_Intron|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Silent_p.S319S|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Non-coding_Transcript|HEATR8_uc001cxt.1_Non-coding_Transcript	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN	Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.	319	Ser-rich.					integral to membrane	binding			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGCCCAACTCCACCATCTCTC	0.557000														42			7		0	0	0.000673444	0	0
SLC38A9	153129	broad.mit.edu	37	5	54923757	54923757	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:54923757G>A	uc003jqf.2	-	14	2074	c.1482C>T	c.(1480-1482)atC>atT	p.I494I	SLC38A9_uc003jqd.2_Silent_p.I431I|SLC38A9_uc010ivx.2_Silent_p.I431I|SLC38A9_uc003jqe.2_Non-coding_Transcript|SLC38A9_uc010ivy.2_Silent_p.I365I	NM_173514	NP_775785	Q8NBW4	S38A9_HUMAN	Homo sapiens solute carrier family 38, member 9 (SLC38A9), mRNA.	494					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				AACAGGCCATGATCACTCCAG	0.378000														43			12		0	0	0.000422831	0	0
AKAP9	10142	broad.mit.edu	37	7	91674501	91674501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:91674501C>T	uc003ulg.3	+	20	5567	c.5342C>T	c.(5341-5343)tCa>tTa	p.S1781L	AKAP9_uc003ulf.3_Missense_Mutation_p.S1781L|AKAP9_uc003uli.3_Missense_Mutation_p.S1406L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1793					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding	p.L1781I(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCTGTAAAGTCATGTGTCCAT	0.423000			T	BRAF	papillary thyroid									73			16		0	0	0.000566183	0	0
ABP1	26	broad.mit.edu	37	7	150555081	150555081	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:150555081A>G	uc003why.1	+	2	5741	c.1523A>G	c.(1522-1524)aAc>aGc	p.N508S	ABP1_uc003whz.1_Missense_Mutation_p.N508S|ABP1_uc003wia.1_Missense_Mutation_p.N508S	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	508					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CTGATTGGCAACATACACACT	0.582000														61			12		0	0	0.00136819	0	0
OR1S2	219958	broad.mit.edu	37	11	57971349	57971349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:57971349C>T	uc010rkb.2	-	0	305	c.305G>A	c.(304-306)aGc>aAc	p.S102N		NM_001004459	NP_001004459	Q8NGQ3	OR1S2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 2 (OR1S2), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				GATGGATTGGCTGTTGGTTTG	0.448000														43			12		0	0	0.000978159	0	0
SPEF2	79925	broad.mit.edu	37	5	35709087	35709087	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:35709087A>T	uc003jjo.3	+	18	2814	c.2703A>T	c.(2701-2703)aaA>aaT	p.K901N	SPEF2_uc003jjq.4_Missense_Mutation_p.K896N|SPEF2_uc003jjp.1_Missense_Mutation_p.K387N	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	901					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)			CTGAGAAAAAAGCAGCAGCTT	0.413000														33			17		0	0	0.000422831	0	0
BFSP1	631	broad.mit.edu	37	20	17475281	17475281	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:17475281T>C	uc002wpo.3	-	7	1475	c.1436A>G	c.(1435-1437)tAc>tGc	p.Y479C	BFSP1_uc002wpp.3_Missense_Mutation_p.Y354C|BFSP1_uc010zrn.2_Missense_Mutation_p.Y340C|BFSP1_uc010zro.2_Missense_Mutation_p.Y340C	NM_001195	NP_001186	Q12934	BFSP1_HUMAN	Homo sapiens beaded filament structural protein 1, filensin (BFSP1), transcript variant 1, mRNA.	479	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						AGGGTCCACGTAATTGGCATC	0.552000														34			5		0	0	0.000602214	0	0
FAM123C	205147	broad.mit.edu	37	2	131520728	131520728	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:131520728C>T	uc021voy.1	+	0	1083	c.1083C>T	c.(1081-1083)ggC>ggT	p.G361G	FAM123C_uc002trw.2_Silent_p.G361G|FAM123C_uc010fmv.2_Silent_p.G361G|FAM123C_uc010fms.1_Silent_p.G361G|FAM123C_uc010fmt.1_Silent_p.G361G|FAM123C_uc010fmu.1_Silent_p.G361G	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	361										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CTCGCAGCGGCTCCAAAGCCA	0.652000														13			9		0	0	0.000673444	0	0
ZNF586	54807	broad.mit.edu	37	19	58291138	58291138	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:58291138C>T	uc002qqd.3	+	2	1374	c.1183C>T	c.(1183-1185)Cat>Tat	p.H395Y	ZNF587_uc002qqb.2_Intron|ZNF586_uc010euh.3_Missense_Mutation_p.H352Y|ZNF586_uc002qqe.3_3'UTR|ZNF586_uc002qqf.2_Intron	NM_017652	NP_001191743	Q9NXT0	ZN586_HUMAN	Homo sapiens zinc finger protein 586 (ZNF586), transcript variant 1, mRNA.	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCAGAGAGTTCATACTGGAAT	0.438000														57			8		0	0	0.000442599	0	0
ELAVL2	1993	broad.mit.edu	37	9	23704940	23704940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:23704940G>A	uc003zpu.3	-	3	738	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	ELAVL2_uc003zps.3_Missense_Mutation_p.R155C|ELAVL2_uc003zpt.3_Missense_Mutation_p.R155C|ELAVL2_uc003zpv.3_Missense_Mutation_p.R155C|ELAVL2_uc003zpw.3_Missense_Mutation_p.R155C	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	155	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		ACAAGAATACGAGAAGTAATA	0.418000														28			37		0	0	0.00128727	0	0
GXYLT2	727936	broad.mit.edu	37	3	72971411	72971411	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:72971411C>T	uc003dpg.3	+	2	525	c.525C>T	c.(523-525)atC>atT	p.I175I		NM_001080393	NP_001073862	A0PJZ3	GXLT2_HUMAN	Homo sapiens glucoside xylosyltransferase 2 (GXYLT2), mRNA.	175					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity	p.I175I(2)|p.P174H(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						TCTACCCCATCACATTTTCTG	0.453000														141			43		0	0	0.00222228	0	0
YSK4	80122	broad.mit.edu	37	2	135745582	135745582	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:135745582C>T	uc002tue.1	-	6	891	c.860G>A	c.(859-861)aGa>aAa	p.R287K	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.R174K|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.R15K|YSK4_uc002tui.4_Missense_Mutation_p.R304K	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	287							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		GCACATGTTTCTTGACCAAAT	0.448000														71			10		0	0	0.00136819	0	0
LRP1B	53353	broad.mit.edu	37	2	141130635	141130635	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:141130635C>T	uc002tvj.1	-	68	11682	c.10710G>A	c.(10708-10710)tgG>tgA	p.W3570*		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3570	LDL-receptor class A 27.				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)		CATCACATTTCCATTTTGCTG	0.358000										TSP Lung(27;0.18)				31			23		0	0	0.00047179	0	0
CBL	867	broad.mit.edu	37	11	119142544	119142544	+	Silent	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:119142544T>C	uc001pwe.3	+	2	681	c.543T>C	c.(541-543)atT>atC	p.I181I		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	181	Cbl-PTB.|EF-hand-like.				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)		CATTTCGGATTACTAAAGCAG	0.403000			"""T, Mis S, O"""	MLL	"""AML, JMML, MDS"""				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies					167			46		0	0	0.000781405	0	0
OR3A4P	390756	broad.mit.edu	37	17	3213919	3213919	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:3213919C>T	uc002fvi.2	+	0	381	c.315C>T	c.(313-315)ttC>ttT	p.F105F						Homo sapiens olfactory receptor, family 3, subfamily A, member 4 pseudogene (OR3A4P), non-coding RNA.																		CCGAGCTCTTCTTCTTCCACC	0.562000														18			9		0	0	0.000978159	0	0
C18orf34	374864	broad.mit.edu	37	18	30936296	30936296	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:30936296A>T	uc010xbr.1	-	5	505	c.363T>A	c.(361-363)ttT>ttA	p.F121L	C18orf34_uc002kxn.2_Missense_Mutation_p.F121L|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.F121L|C18orf34_uc002kxp.3_Missense_Mutation_p.F121L	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	121										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						ACCATTCTTCAAAAGAAGTTT	0.234000														8			5		0	0	0.00116845	0	0
ARFGAP3	26286	broad.mit.edu	37	22	43243540	43243540	+	Silent	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:43243540A>C	uc003bdd.2	-	1	388	c.168T>G	c.(166-168)ggT>ggG	p.G56G	ARFGAP3_uc010gzf.2_Silent_p.G56G|ARFGAP3_uc011apu.1_Silent_p.G56G	NM_014570	NP_055385	Q9NP61	ARFG3_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 3 (ARFGAP3), transcript variant 1, mRNA.	56	Arf-GAP.				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						TCAAGTGAACACCAAGTGACC	0.413000														14			6		0	0	0.00116845	0	0
NLRP5	126206	broad.mit.edu	37	19	56561926	56561926	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:56561926G>A	uc002qmj.3	+	11	3100	c.3100G>A	c.(3100-3102)Gaa>Aaa	p.E1034K	NLRP5_uc002qmi.3_Missense_Mutation_p.E1015K	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	1034						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGTCATGAGAGAACCATCTTG	0.517000														31			9		0	0	0.00136819	0	0
CRYGC	1420	broad.mit.edu	37	2	208993094	208993094	+	Missense_Mutation	SNP	C	T	T	rs149355001		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:208993094C>T	uc002vco.4	-	2	396	c.358G>A	c.(358-360)Gag>Aag	p.E120K	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_020989	NP_066269	P07315	CRGC_HUMAN	Homo sapiens crystallin, gamma C (CRYGC), mRNA.	120	Beta/gamma crystallin 'Greek key' 3.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GAACGGATCTCGCTGAGGTGG	0.632000														11			10		0	0	0.000442599	0	0
ZFAT	57623	broad.mit.edu	37	8	135602517	135602517	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:135602517G>A	uc003yup.3	-	7	2743	c.2557C>T	c.(2557-2559)Cat>Tat	p.H853Y	ZFAT_uc003yun.3_Missense_Mutation_p.H841Y|ZFAT_uc003yuo.3_Missense_Mutation_p.H841Y|ZFAT_uc010meh.3_Missense_Mutation_p.H841Y|ZFAT_uc010mej.3_Missense_Mutation_p.H791Y|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.H841Y	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	853					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TTACCAGGATGGTTGGTCTTG	0.308000														135			25		0	0	0.00047179	0	0
NAALAD2	10003	broad.mit.edu	37	11	89909193	89909193	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:89909193G>A	uc001pdf.4	+	14	1665	c.1556G>A	c.(1555-1557)gGa>gAa	p.G519E	NAALAD2_uc009yvx.3_Missense_Mutation_p.G486E|NAALAD2_uc009yvy.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	519	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				CAGAGACTTGGAATTGCTTCA	0.378000														47			13		0	0	0.000566183	0	0
PTPN21	11099	broad.mit.edu	37	14	88945739	88945739	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:88945739G>A	uc001xwv.4	-	12	2367	c.2036C>T	c.(2035-2037)aCc>aTc	p.T679I	PTPN21_uc010twc.2_Missense_Mutation_p.T475I	NM_007039	NP_008970	Q16825	PTN21_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 21 (PTPN21), mRNA.	679						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGTCCTCTCGGTGAAAACGCT	0.682000														15			6		0	0	0.00198382	0	0
RAB11FIP5	26056	broad.mit.edu	37	2	73303160	73303160	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:73303160G>A	uc002siu.4	-	3	1960	c.1719C>T	c.(1717-1719)gcC>gcT	p.A573A	RAB11FIP5_uc002sis.4_5'UTR|RAB11FIP5_uc002sit.4_Silent_p.A495A	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	573					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CAGCCTGGGGGGCCTGGGTCA	0.597000														77			14		0	0	0.00185496	0	0
SH3BP4	23677	broad.mit.edu	37	2	235949919	235949919	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:235949919C>T	uc002vvp.3	+	3	899	c.506C>T	c.(505-507)cCa>cTa	p.P169L	SH3BP4_uc010fym.3_Missense_Mutation_p.P169L|SH3BP4_uc002vvq.3_Missense_Mutation_p.P169L	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	169					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding	p.P169P(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CAGACCAATCCATTTCTGAAT	0.507000														37			30		0	0	0.00058488	0	0
COL21A1	81578	broad.mit.edu	37	6	55990387	55990387	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:55990387G>A	uc003pcs.3	-	13	1860	c.1628C>T	c.(1627-1629)tCa>tTa	p.S543L	COL21A1_uc010jzz.3_5'Flank|COL21A1_uc011dxg.2_5'Flank|COL21A1_uc011dxh.2_5'Flank|COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.S543L|COL21A1_uc003pcu.1_Missense_Mutation_p.S540L	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	543	Collagen-like 2.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			AAATCCAGGTGATCCTTTGTC	0.284000														41			11		0	0	0.00244969	0	0
UGT2B15	7366	broad.mit.edu	37	4	69512849	69512849	+	Silent	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:69512849T>C	uc021xow.1	-	5	1724	c.1566A>G	c.(1564-1566)aaA>aaG	p.K522K		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	522					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										TCTTTCCTTTTTTGGCAAGCT	0.393000														92			20		0	0	0.00106085	0	0
THSD1	55901	broad.mit.edu	37	13	52971631	52971631	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:52971631C>T	uc001vgo.3	-	2	1302	c.757G>A	c.(757-759)Gag>Aag	p.E253K	THSD1_uc001vgp.3_Missense_Mutation_p.E253K|THSD1_uc010tgz.2_Intron	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	253						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ACCCCGGACTCACATGTGAGT	0.557000														24			6		0	0	0.00116845	0	0
C6orf70	55780	broad.mit.edu	37	6	170160786	170160786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:170160786C>T	uc003qxg.1	+	7	824	c.791C>T	c.(790-792)tCt>tTt	p.S264F	C6orf70_uc011ehb.1_Missense_Mutation_p.S138F|C6orf70_uc003qxh.1_Missense_Mutation_p.S264F|C6orf70_uc010kky.1_Missense_Mutation_p.S138F	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	Homo sapiens chromosome 6 open reading frame 70 (C6orf70), mRNA.	264						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		ATGATGAAATCTGCTTTTATA	0.348000														21			10		0	0	0.00185496	0	0
KEL	3792	broad.mit.edu	37	7	142658153	142658153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142658153G>A	uc003wcb.3	-	3	472	c.262C>T	c.(262-264)Cat>Tat	p.H88Y		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	88					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)					GCCAGGTAATGATCCCGGAGA	0.542000														49			7		0	0	0.000157383	0	0
PEX7	5191	broad.mit.edu	37	6	137191066	137191066	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:137191066A>G	uc003qhd.3	+	6	774	c.672A>G	c.(670-672)agA>agG	p.R224R	PEX7_uc010kgx.3_Non-coding_Transcript	NM_000288	NP_000279	O00628	PEX7_HUMAN	Homo sapiens peroxisomal biogenesis factor 7 (PEX7), mRNA.	224					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		GTAGTTTGAGAGGCTGGGACT	0.388000														125			48		0	0	0.000781405	0	0
PGLYRP3	114771	broad.mit.edu	37	1	153279643	153279643	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:153279643G>A	uc001fbn.1	-	1	209	c.156C>T	c.(154-156)ctC>ctT	p.L52L		NM_052891	NP_443123	Q96LB9	PGRP3_HUMAN	Homo sapiens peptidoglycan recognition protein 3 (PGLYRP3), mRNA.	52					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCATCCCTGGGAGCTGGTCTG	0.632000														4			5		0	0	0.000602214	0	0
MLL5	55904	broad.mit.edu	37	7	104715193	104715193	+	Silent	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:104715193T>C	uc003vcm.3	+	7	1194	c.660T>C	c.(658-660)gtT>gtC	p.V220V	MLL5_uc010lja.1_Silent_p.V74V|MLL5_uc010ljb.1_Silent_p.V220V|MLL5_uc003vcl.3_Silent_p.V220V|MLL5_uc010ljc.3_Silent_p.V220V|MLL5_uc003vco.1_Non-coding_Transcript|MLL5_uc010ljd.1_5'Flank	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	220					DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						CTTCAAGAGTTTCCAAAGTTA	0.363000														112			20		0	0	0.00152264	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939269	2939269	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:2939269C>T	uc001ajz.3	+	0	1224	c.1019C>T	c.(1018-1020)tCc>tTc	p.S340F		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	340						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CGGTGGTTCTCCACCTGGATT	0.612000														42			17		0	0	0.000566183	0	0
NADK	65220	broad.mit.edu	37	1	1696783	1696783	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:1696783G>A	uc001aic.3	-	1	285	c.63C>T	c.(61-63)taC>taT	p.Y21Y	NADK_uc001aid.4_Silent_p.Y21Y|NADK_uc001aie.3_Silent_p.Y21Y|NADK_uc009vkx.1_5'UTR	NM_023018	NP_075394	O95544	NADK_HUMAN	Homo sapiens NAD kinase (NADK), transcript variant 1, mRNA.	21					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|NAD+ kinase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	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;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CCGAGCAGCAGTAAGCAGCCG	0.552000														41			9		0	0	0.000274275	0	0
COL6A3	1293	broad.mit.edu	37	2	238280964	238280964	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:238280964C>T	uc002vwl.2	-	8	3981	c.3696G>A	c.(3694-3696)agG>agA	p.R1232R	COL6A3_uc002vwo.2_Silent_p.R1026R|COL6A3_uc010znj.1_Silent_p.R625R|COL6A3_uc002vwq.3_Silent_p.R1026R|COL6A3_uc002vwr.3_Silent_p.R825R	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1232	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.R1232R(2)|p.R1026R(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGACCACGTCCCTCTTGCCAC	0.542000														27			8		0	0	0.000274275	0	0
ABCC3	8714	broad.mit.edu	37	17	48741436	48741436	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:48741436C>T	uc002isl.3	+	9	1382	c.1302C>T	c.(1300-1302)ccC>ccT	p.P434P	ABCC3_uc002isk.4_Silent_p.P434P|ABCC3_uc002ism.3_Missense_Mutation_p.P147S	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	434	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GGTCAGCACCCCTGCAGATCA	0.567000														78			11		0	0	0.000673444	0	0
MIR205HG	642587	broad.mit.edu	37	1	209602699	209602699	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:209602699C>T	uc009xcn.3	+	1	440	c.57C>T	c.(55-57)tcC>tcT	p.S19S	MIR205HG_uc010psk.2_5'Flank	NM_001104548	NP_001098018			Homo sapiens MIR205 host gene (non-protein coding) (MIR205HG), mRNA.																		CCCACCTTTCCTCAGGAGTCA	0.498000														21			5		0	0	0.000157383	0	0
C7	730	broad.mit.edu	37	5	40981494	40981494	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:40981494C>T	uc003jmh.3	+	18	2465	c.2351_splice	c.e18-1	p.A784_splice		NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	784	Complement control factor I module 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ACTTTTCCAGCTGAGAGCAGC	0.478000														4			7		0	0	0.000274275	0	0
OR51D1	390038	broad.mit.edu	37	11	4661092	4661092	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:4661092C>T	uc010qyk.2	+	0	148	c.72C>T	c.(70-72)ttC>ttT	p.F24F		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGCATACTTCCTTTTGGTGG	0.502000														52			25		0	0	0.000586117	0	0
QRICH2	84074	broad.mit.edu	37	17	74276755	74276755	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:74276755G>A	uc002jrd.1	-	9	4123	c.3943C>T	c.(3943-3945)Ctg>Ttg	p.L1315L	QRICH2_uc010dgw.1_Silent_p.L159L	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1315							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TCCATCTCCAGGTGCTCCCTG	0.587000														48			9		0	0	0.000442599	0	0
NDST1	3340	broad.mit.edu	37	5	149925012	149925012	+	Silent	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:149925012C>A	uc003lsk.4	+	10	2611	c.2109C>A	c.(2107-2109)ctC>ctA	p.L703L	NDST1_uc011dcj.2_Silent_p.L703L	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	703	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity	p.L703L(2)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGACCATCCTCATCAACCCCG	0.602000														88			24		5.77227e-19	1.95473e-18	0.001512	1	0
CRYBA4	1413	broad.mit.edu	37	22	27026442	27026442	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:27026442C>T	uc003acz.4	+	5	617	c.582C>T	c.(580-582)atC>atT	p.I194I		NM_001886	NP_001877	P53673	CRBA4_HUMAN	Homo sapiens crystallin, beta A4 (CRYBA4), mRNA.	194	Beta/gamma crystallin 'Greek key' 4.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						TCCGCAGGATCCAGCAGTGAA	0.597000														18			5		0	0	0.00116845	0	0
NSUN2	54888	broad.mit.edu	37	5	6620226	6620227	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:6620226_6620227GG>AA	uc003jdu.3	-	6	1188_1189	c.807_808CC>TT	c.(805-810)gtccct>gtTTct	p.P270S	NSUN2_uc003jdt.3_Missense_Mutation_p.P34S|NSUN2_uc011cmk.2_Missense_Mutation_p.P235S|NSUN2_uc003jdv.3_Missense_Mutation_p.P34S	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	270						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TACCTGCAAGGGACATCACATA	0.406000														67			7		0	0	6.4e-05	0	0
LIMCH1	22998	broad.mit.edu	37	4	41496613	41496613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:41496613C>T	uc003gvu.4	+	1	211	c.157C>T	c.(157-159)Ctc>Ttc	p.L53F	LIMCH1_uc003gvt.1_Intron|LIMCH1_uc003gwe.4_Missense_Mutation_p.L53F|LIMCH1_uc003gvv.4_Missense_Mutation_p.L53F|LIMCH1_uc003gvw.4_Missense_Mutation_p.L53F|LIMCH1_uc003gvx.4_Missense_Mutation_p.L53F|LIMCH1_uc003gvy.4_5'UTR	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	53	CH.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						AAATGGAATCCTCCTCTGCGA	0.333000														95			25		0	0	0.00106085	0	0
PILRA	29992	broad.mit.edu	37	7	99971761	99971761	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:99971761C>T	uc003uuo.1	+	1	371	c.159C>T	c.(157-159)ttC>ttT	p.F53F	PILRA_uc011kjn.1_Silent_p.F53F|PILRA_uc011kjo.2_Silent_p.F53F|PILRA_uc003uup.1_Silent_p.F53F|PILRA_uc003uuq.1_Silent_p.F53F	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor alpha (PILRA), transcript variant 1, mRNA.	53	Ig-like V-type.				interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAATCCCCTTCTCCTTCTATT	0.562000														44			5		0	0	0.000602214	0	0
FH	2271	broad.mit.edu	37	1	241669301	241669301	+	Splice_Site	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:241669301A>C	uc001hyx.3	-	6	967	c.904_splice	c.e6+1	p.G302_splice		NM_000143	NP_000134	P07954	FUMH_HUMAN	Homo sapiens fumarate hydratase (FH), nuclear gene encoding mitochondrial protein, mRNA.	302					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		GTGATCACTAACCTGTAAGTG	0.388000			"""Mis, N, F"""			"""lieomyomatosis, renal"""			Hereditary Leiomyomatosis and Renal Cell Cancer					63			7		0	0	0.000673444	0	0
CDH13	1012	broad.mit.edu	37	16	83711861	83711861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:83711861G>A	uc010vns.2	+	10	1738	c.1474G>A	c.(1474-1476)Gaa>Aaa	p.E492K	CDH13_uc002fgx.3_Missense_Mutation_p.E445K|CDH13_uc010vnt.2_Missense_Mutation_p.E191K|CDH13_uc010vnu.2_Missense_Mutation_p.E406K	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	445	Cadherin 4.				Rac protein signal transduction|Rho protein signal transduction|adherens junction organization|calcium-dependent cell-cell adhesion|cell junction assembly|endothelial cell migration|homophilic cell adhesion|keratinocyte proliferation|lamellipodium assembly|localization within membrane|low-density lipoprotein particle mediated signaling|negative regulation of cell adhesion|negative regulation of cell proliferation|positive regulation of calcium-mediated signaling|positive regulation of cell migration|positive regulation of cell-matrix adhesion|positive regulation of endothelial cell proliferation|positive regulation of positive chemotaxis|positive regulation of smooth muscle cell proliferation|positive regulation of survival gene product expression|regulation of endocytosis|regulation of epidermal growth factor receptor signaling pathway|sprouting angiogenesis	anchored to membrane|caveola|extracellular space|integral to membrane|neuron projection	adiponectin binding|cadherin binding|calcium ion binding|low-density lipoprotein particle binding			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		GATCAAAGTGGAAAATGAAGA	0.547000														14			5		0	0	0.00198382	0	0
BTRC	8945	broad.mit.edu	37	10	103281544	103281544	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:103281544C>T	uc001kta.3	+	4	586	c.473C>T	c.(472-474)tCc>tTc	p.S158F	BTRC_uc001ktb.3_Missense_Mutation_p.S122F|BTRC_uc001ktc.3_Missense_Mutation_p.S132F	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	158	Homodimerization domain D.				Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleus				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CATCTTATATCCCAAATGTGT	0.393000														61			17		0	0	0.000958276	0	0
PALMD	54873	broad.mit.edu	37	1	100155137	100155137	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:100155137C>T	uc001dsg.3	+	6	1764	c.1321C>T	c.(1321-1323)Cat>Tat	p.H441Y		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	441					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		TGGGATCATCCATGCTGAGCT	0.468000														13			8		0	0	0.000157383	0	0
ODZ2	57451	broad.mit.edu	37	5	167645207	167645207	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:167645207C>T	uc010jjd.3	+	22	4284	c.4284C>T	c.(4282-4284)atC>atT	p.I1428I	ODZ2_uc003lzr.4_Silent_p.I1198I|ODZ2_uc003lzt.4_Silent_p.I801I|ODZ2_uc010jje.3_Silent_p.I692I	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		ACAATGTCATCCTTCGAATCA	0.498000														59			44		0	0	0.000781405	0	0
C1orf94	84970	broad.mit.edu	37	1	34663106	34663106	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:34663106G>A	uc001bxt.3	+	1	1439	c.601G>A	c.(601-603)Gat>Aat	p.D201N	C1orf94_uc001bxs.4_Missense_Mutation_p.D11N	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	11							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GCAGGACTGTGATTCTGCCAC	0.572000														43			6		0	0	0.000274275	0	0
HLA-G	3135	broad.mit.edu	37	6	29797461	29797461	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:29797461C>T	uc003nnw.2	+	4	1064	c.886C>T	c.(886-888)Ctg>Ttg	p.L296L	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Silent_p.L268L|HLA-G_uc003raj.3_Silent_p.L301L|HLA-G_uc003nnz.3_Silent_p.L204L|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Non-coding_Transcript|HLA-G_uc021ytv.1_Intron|HLA-G_uc003ran.1_5'Flank	NM_002127	NP_002118	P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA.	296	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	MHC class I protein complex|integral to membrane	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GCCCCTCATGCTGAGATGGAG	0.582000														105			21		0	0	0.00278032	0	0
IQGAP2	10788	broad.mit.edu	37	5	75970407	75970407	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:75970407C>T	uc003kek.3	+	26	3622	c.3400C>T	c.(3400-3402)Caa>Taa	p.Q1134*	IQGAP2_uc011csv.2_Nonsense_Mutation_p.Q630*|IQGAP2_uc003kel.3_Nonsense_Mutation_p.Q630*|IQGAP2_uc010izw.1_5'UTR	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	1134	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	GTPase inhibitor activity|Ras GTPase activator activity|actin binding|calmodulin binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AAATTCTGACCAAAGGAGAAA	0.443000														32			13		0	0	0.00136819	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995249	140995249	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:140995249G>A	uc004fbt.3	+	3	2383	c.2059G>A	c.(2059-2061)Gat>Aat	p.D687N	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Missense_Mutation_p.D346N	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	687							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGAGGGGGAGGATTCCCTGTC	0.577000										HNSCC(15;0.026)				28			9		0	0	0.000442599	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140784758	140784758	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140784758C>T	uc003lkh.2	+	0	2239	c.2239C>T	c.(2239-2241)Cga>Tga	p.R747*	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_Nonsense_Mutation_p.R747*	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	757					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)			AGATGGGGTTCGAGCTTTCCT	0.567000														28			10		0	0	0.000442599	0	0
LRRC18	474354	broad.mit.edu	37	10	50122160	50122161	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:50122160_50122161GT>AA	uc001jhd.3	-	0	120_121	c.40_41AC>TT	c.(40-42)acc>TTc	p.T14F	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.T14F	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	14						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CACCTTGAGGGTGATCTTCTTG	0.441000														22			10		0	0	6.4e-05	0	0
KAT6A	7994	broad.mit.edu	37	8	41906403	41906403	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:41906403C>T	uc010lxb.3	-	2	637	c.93G>A	c.(91-93)agG>agA	p.R31R	KAT6A_uc010lxc.3_Silent_p.R31R|KAT6A_uc003xon.4_Silent_p.R31R|KAT6A_uc010lxd.3_Silent_p.R31R	NM_001099412	NP_006757	Q92794	MYST3_HUMAN	Homo sapiens K(lysine) acetyltransferase 6A (KAT6A), transcript variant 1, mRNA.	31	Required for activation of RUNX1-1.				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding										CATTGCATATCCTTTCTTCTG	0.393000														119			123		0	0	0.000781405	0	0
SCN5A	6331	broad.mit.edu	37	3	38591907	38591907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:38591907C>T	uc021wvo.1	-	26	6008	c.5956G>A	c.(5956-5958)Gat>Aat	p.D1986N	SCN5A_uc021wvk.1_Missense_Mutation_p.D1953N|SCN5A_uc021wvl.1_Missense_Mutation_p.D1932N|SCN5A_uc021wvm.1_Missense_Mutation_p.D1968N|SCN5A_uc021wvn.1_Missense_Mutation_p.D1985N|SCN5A_uc021wvp.1_Missense_Mutation_p.D1986N|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.D1798N|SCN5A_uc021wvi.1_Missense_Mutation_p.D1852N	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1986					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	p.D1986N(2)		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)	TGGAGGTTATCGCTGGTGGCT	0.607000														28			10		0	0	0.000673444	0	0
KCNQ3	3786	broad.mit.edu	37	8	133184932	133184932	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:133184932C>T	uc003ytj.3	-	6	1278	c.1053G>A	c.(1051-1053)ctG>ctA	p.L351L	KCNQ3_uc003yti.3_Silent_p.L231L|KCNQ3_uc010mdt.3_Silent_p.L351L	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	351					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GCCCGGACCCCAGGATGCCCT	0.612000														41			6		0	0	0.00116845	0	0
DDI1	414301	broad.mit.edu	37	11	103908115	103908115	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:103908115G>A	uc001phr.2	+	0	808	c.565G>A	c.(565-567)Gaa>Aaa	p.E189K	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	189					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GCAGCAAAGGGAAAAGGCCTT	0.557000														34			12		0	0	0.00136819	0	0
SEMG2	6407	broad.mit.edu	37	20	43850541	43850541	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:43850541C>T	uc010ggz.3	+	1	325	c.268C>T	c.(268-270)Cta>Tta	p.L90L	SEMG2_uc002xnk.3_Silent_p.L90L|SEMG2_uc002xnl.3_Silent_p.L90L	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	90	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TTTGAATGCCCTACATAAGGC	0.363000														72			13		0	0	0.000308642	0	0
TNIK	23043	broad.mit.edu	37	3	170858235	170858235	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:170858235C>T	uc003fhh.2	-	12	1630	c.1285G>A	c.(1285-1287)Gag>Aag	p.E429K	TNIK_uc003fhi.2_Missense_Mutation_p.E429K|TNIK_uc003fhj.2_Missense_Mutation_p.E429K|TNIK_uc003fhk.2_Missense_Mutation_p.E429K|TNIK_uc003fhl.2_Missense_Mutation_p.E429K|TNIK_uc003fhm.2_Missense_Mutation_p.E429K|TNIK_uc003fhn.2_Missense_Mutation_p.E429K|TNIK_uc003fho.2_Missense_Mutation_p.E429K	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	429	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			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)			CGCATCTGCTCCTCATAGTGC	0.642000														70			15		0	0	0.00152264	0	0
CILP2	148113	broad.mit.edu	37	19	19655346	19655346	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:19655346G>A	uc002nmw.4	+	7	2095	c.2010G>A	c.(2008-2010)cgG>cgA	p.R670R	CILP2_uc002nmv.4_Silent_p.R664R	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	664						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						TGGCCGTGCGGGTGGCCGCCA	0.711000														12			4		0	0	0.00024832	0	0
EEFSEC	60678	broad.mit.edu	37	3	127983499	127983499	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:127983499T>G	uc003eki.3	+	3	699	c.661T>G	c.(661-663)Tcg>Gcg	p.S221A		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	221						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						GAGAGATCCCTCGGGACCGTT	0.567000														72			18		0	0	0.000586117	0	0
TEX15	56154	broad.mit.edu	37	8	30694423	30694423	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:30694423C>T	uc003xil.3	-	2	8228	c.8228G>A	c.(8227-8229)cGg>cAg	p.R2743Q		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2743										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATTGGCTGCCGAAAATTAGA	0.408000														54			17		0	0	0.00074312	0	0
TTN	7273	broad.mit.edu	37	2	179433209	179433209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179433209C>T	uc021vsy.1	-	274	70171	c.69946G>A	c.(69946-69948)Gaa>Aaa	p.E23316K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E17011K|TTN_uc021vta.1_Missense_Mutation_p.E16944K|TTN_uc021vtb.1_Missense_Mutation_p.E16819K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24243	Fibronectin type-III 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E23314K(1)|p.E17011K(1)		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)			GTTACAATTTCGATGGATGCT	0.388000														21			12		0	0	0.000978159	0	0
LDLRAD1	388633	broad.mit.edu	37	1	54475959	54475959	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:54475959G>A	uc001cwm.1	-	4	483	c.465C>T	c.(463-465)agC>agT	p.S155S	LDLRAD1_uc010onz.1_3'UTR|LDLRAD1_uc010ooa.1_Silent_p.S112S|LDLRAD1_uc009vzn.1_Non-coding_Transcript	NM_001010978	NP_001010978	Q5T700	LRAD1_HUMAN	Homo sapiens low density lipoprotein receptor class A domain containing 1 (LDLRAD1), mRNA.	155	LDL-receptor class A 2; atypical.					integral to membrane	receptor activity			large_intestine(3)|prostate(1)|skin(3)	7						CCCTACCTGGGCTCAGTTCAT	0.597000														17			13		0	0	0.000422831	0	0
IQGAP1	8826	broad.mit.edu	37	15	90999484	90999484	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:90999484C>T	uc002bpl.1	+	14	1814	c.1713C>T	c.(1711-1713)gtC>gtT	p.V571V		NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	571					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTGAGGGAGTCCTTGCAGAAG	0.478000														11			7		0	0	0.00198382	0	0
EBF2	64641	broad.mit.edu	37	8	25708263	25708263	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:25708263G>A	uc003xes.2	-	14	1808	c.1543C>T	c.(1543-1545)Ccc>Tcc	p.P515S	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	515	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CCAACGGTGGGACTTGATGAC	0.438000														24			10		0	0	0.000978159	0	0
ZNF761	388561	broad.mit.edu	37	19	53958609	53958609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:53958609C>T	uc010eqp.3	+	6	1306	c.848C>T	c.(847-849)tCa>tTa	p.S283L	ZNF761_uc010ydy.2_Missense_Mutation_p.S229L|ZNF761_uc002qbt.2_Missense_Mutation_p.S229L	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AGTCAGACGTCATCCCTTACA	0.408000														83			13		0	0	0.00244969	0	0
C3orf75	54859	broad.mit.edu	37	3	47551689	47551689	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:47551689G>A	uc003crk.3	-	2	308	c.189C>T	c.(187-189)atC>atT	p.I63I	C3orf75_uc011bba.2_Intron|C3orf75_uc003crl.1_Silent_p.I63I	NM_001031703	NP_001026873	Q0PNE2	CC075_HUMAN	Homo sapiens chromosome 3 open reading frame 75 (C3orf75), mRNA.	63										endometrium(2)|large_intestine(1)|lung(2)	5						TCTGTCCCACGATACTGTAGT	0.413000														54			13		0	0	0.000566183	0	0
DCUN1D3	123879	broad.mit.edu	37	16	20871502	20871502	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:20871502G>A	uc002dhz.3	-	2	762	c.621C>T	c.(619-621)gcC>gcT	p.A207A	ERI2_uc002dht.3_Intron	NM_173475	NP_775746	Q8IWE4	DCNL3_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae) (DCUN1D3), mRNA.	207	DCUN1.				negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|positive regulation of apoptosis|response to UV-C|response to gamma radiation	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		GTTTCCACAGGGCAATGGCTA	0.498000														73			16		0	0	0.00074312	0	0
R3HDML	140902	broad.mit.edu	37	20	42979373	42979373	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:42979373A>C	uc002xls.1	+	4	875	c.703A>C	c.(703-705)Agc>Cgc	p.S235R		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	Homo sapiens R3H domain containing-like (R3HDML), mRNA.	235						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			TTATCAAGGCAGCTGCAATAG	0.557000														51			25		0	0	0.000878237	0	0
ECT2	1894	broad.mit.edu	37	3	172474833	172474834	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:172474833_172474834CC>TT	uc003fii.2	+	3	409_410	c.271_272CC>TT	c.(271-273)ccg>TTg	p.P91L	ECT2_uc010hwv.1_Missense_Mutation_p.P122L|ECT2_uc003fih.2_Missense_Mutation_p.P90L|ECT2_uc003fij.1_Missense_Mutation_p.P91L|ECT2_uc003fik.1_Missense_Mutation_p.P91L|ECT2_uc003fil.1_Missense_Mutation_p.P122L	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA.	91					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TTTGGATTCTCCGGAATTTGAA	0.342000														148			43		0	0	6.4e-05	0	0
EDN2	1907	broad.mit.edu	37	1	41948242	41948242	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:41948242C>T	uc001cgx.3	-	2	311	c.239G>A	c.(238-240)gGc>gAc	p.G80D	EDN2_uc001cgu.3_Non-coding_Transcript|EDN2_uc001cgv.3_Non-coding_Transcript|EDN2_uc009vwh.3_5'UTR|EDN2_uc001cgw.3_Non-coding_Transcript|EDN2_uc009vwi.3_Intron|EDN2_uc009vwj.3_Intron	NM_001956	NP_001947	P20800	EDN2_HUMAN	Homo sapiens endothelin 2 (EDN2), mRNA.	80					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity			endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GTTTCCCAGGCCGTAAGGAGC	0.602000														25			20		0	0	0.00229938	0	0
KDR	3791	broad.mit.edu	37	4	55972087	55972087	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:55972087G>A	uc003has.3	-	11	1859	c.1557C>T	c.(1555-1557)atC>atT	p.I519I	KDR_uc003hat.1_Silent_p.I519I|KDR_uc011bzx.2_Silent_p.I519I	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	519	Ig-like C2-type 5.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TTGCCGCTTGGATAACAAGGG	0.493000			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)				65			18		0	0	0.000958276	0	0
ZFHX4	79776	broad.mit.edu	37	8	77768515	77768515	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:77768515G>A	uc003yau.2	+	9	9745	c.9358G>A	c.(9358-9360)Gga>Aga	p.G3120R	ZFHX4_uc003yaw.1_Missense_Mutation_p.G3075R	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	3075	Pro-rich.					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)			CTCCTTGCCGGGATTTCCACA	0.512000										HNSCC(33;0.089)				18			13		0	0	0.00136819	0	0
XIAP	331	broad.mit.edu	37	X	123034363	123034363	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:123034363C>T	uc010nqu.3	+	5	1246	c.1120C>T	c.(1120-1122)Cct>Tct	p.P374S	XIAP_uc004etx.3_Missense_Mutation_p.P374S|XIAP_uc010nqv.3_5'UTR	NM_001204401	NP_001191330	P98170	XIAP_HUMAN	Homo sapiens X-linked inhibitor of apoptosis (XIAP), transcript variant 2, mRNA.	374					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						CTTCCAAAATCCTATGGTACA	0.299000									X-linked Lymphoproliferative syndrome					35			14		0	0	0.000566183	0	0
PLEC	5339	broad.mit.edu	37	8	144993558	144993558	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:144993558G>A	uc003zaf.1	-	31	11012	c.10842C>T	c.(10840-10842)ccC>ccT	p.P3614P	PLEC_uc003zab.1_Silent_p.P3477P|PLEC_uc003zac.1_Silent_p.P3481P|PLEC_uc003zad.2_Silent_p.P3477P|PLEC_uc003zae.1_Silent_p.P3445P|PLEC_uc003zag.1_Silent_p.P3455P|PLEC_uc003zah.2_Silent_p.P3463P|PLEC_uc003zaj.2_Silent_p.P3504P	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3614	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.P3614P(2)|p.P3504P(1)|p.P3477P(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGCTGTGCACGGGGTCGATGA	0.677000														33			14		0	0	0.00244969	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144918872	144918872	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:144918872G>A	uc021ouh.1	-	9	1616	c.1314C>T	c.(1312-1314)caC>caT	p.H438H	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.H438H|PDE4DIP_uc001elx.4_Silent_p.H504H|PDE4DIP_uc001emd.2_Silent_p.H438H|PDE4DIP_uc001emc.2_Silent_p.H438H|PDE4DIP_uc001emb.1_Silent_p.H601H|PDE4DIP_uc001eme.1_5'UTR	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	438					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TATGGTTTAGGTGCTGGATGT	0.408000			T	PDGFRB	MPD									648			72		0	0	0.000781405	0	0
MUC3A	4584	broad.mit.edu	37	7	100552502	100552502	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:100552502G>A	uc003uxl.1	+	0	1753	c.953G>A	c.(952-954)cGa>cAa	p.R318Q	MUC3A_uc003uxk.1_Non-coding_Transcript					SubName: Full=Intestinal mucin; Flags: Fragment;											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						ACAAGTACTCGACTGCCCACC	0.532000														139			11		0	0	0.00185496	0	0
IL33	90865	broad.mit.edu	37	9	6252943	6252943	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:6252943G>A	uc003zjt.3	+	4	499	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K	IL33_uc011lmg.2_Intron|IL33_uc011lmh.2_Intron|IL33_uc022bdf.1_Missense_Mutation_p.E99K	NM_033439	NP_254274	O95760	IL33_HUMAN	Homo sapiens interleukin 33 (IL33), transcript variant 1, mRNA.	141					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		TTTGGAGGATGAAAGTTATGA	0.264000														54			14		0	0	0.00244969	0	0
TCRA	0	broad.mit.edu	37	14	22616073	22616073	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:22616073C>T	uc010ajk.2	+	0	114	c.28C>T	c.(28-30)Ctt>Ttt	p.L10F	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.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_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc001wdg.1_5'Flank|TCRA_uc021rpt.1_5'Flank					SubName: Full=TRA@ protein;																		CGTGTCCATTCTTTGGATTCA	0.433000														6			3		0	0	6.4e-05	0	0
DNAH1	25981	broad.mit.edu	37	3	52429347	52429347	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:52429347C>T	uc011bef.2	+	68	11253	c.10992C>T	c.(10990-10992)ttC>ttT	p.F3664F	DNAH1_uc003ddv.3_Silent_p.F522F	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3729					ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGTGGTGTTCAAAGACTCCA	0.577000														11			5		0	0	0.00198382	0	0
SNRPC	6631	broad.mit.edu	37	6	34741339	34741339	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:34741339G>A	uc003ojt.2	+	5	922	c.472G>A	c.(472-474)Gac>Aac	p.D158N	SNRPC_uc021yyv.1_Missense_Mutation_p.D117N|SNRPC_uc021yyw.1_Missense_Mutation_p.D179N	NM_003093	NP_003084	P09234	RU1C_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide C (SNRPC), transcript variant 1, mRNA.	158					spliceosomal snRNP assembly	Cajal body|U1 snRNP	protein homodimerization activity|single-stranded RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6						GACTCGACCAGACAGATAAGG	0.522000														71			11		0	0	0.00136819	0	0
LRRC39	127495	broad.mit.edu	37	1	100621813	100621813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:100621813G>A	uc001dsw.1	-	6	773	c.574C>T	c.(574-576)Cct>Tct	p.P192S	LRRC39_uc001dsx.1_Missense_Mutation_p.P192S|LRRC39_uc001dsy.1_Missense_Mutation_p.P192S|LRRC39_uc001dsz.1_Missense_Mutation_p.P192S	NM_144620	NP_653221	Q96DD0	LRC39_HUMAN	Homo sapiens leucine rich repeat containing 39 (LRRC39), transcript variant 3, mRNA.	192										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ACAGCAAGAGGGATTGTAGTA	0.388000														27			19		0	0	0.00121646	0	0
DDX26B	203522	broad.mit.edu	37	X	134706880	134706880	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:134706880C>T	uc004eyw.4	+	10	1791	c.1428C>T	c.(1426-1428)atC>atT	p.I476I	DDX26B_uc004eyx.4_Silent_p.I77I	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	476										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAAGAAATCACAGGGGAAA	0.358000														41			17		0	0	0.00074312	0	0
SLC9C1	285335	broad.mit.edu	37	3	111923085	111923085	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:111923085G>A	uc003dyu.3	-	16	2374	c.2152C>T	c.(2152-2154)Cgt>Tgt	p.R718C	SLC9C1_uc011bhu.2_Intron|SLC9C1_uc010hqc.3_Missense_Mutation_p.R670C	NM_183061	NP_898884	Q4G0N8	S9A10_HUMAN	Homo sapiens solute carrier family 9, member 10 (SLC9A10), mRNA.	718					cell differentiation|multicellular organismal development|sodium ion transport|spermatogenesis	cilium|flagellar membrane|integral to membrane	solute:hydrogen antiporter activity										CGTAGTATACGAAAAAATTGA	0.264000														33			7		0	0	0.000274275	0	0
ODZ1	10178	broad.mit.edu	37	X	123556265	123556265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:123556265C>T	uc010nqy.3	-	23	4392	c.4328G>A	c.(4327-4329)aGc>aAc	p.S1443N	ODZ1_uc011muj.2_Missense_Mutation_p.S1442N|ODZ1_uc004euj.3_Missense_Mutation_p.S1436N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1436					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						GAGCAGCCCGCTGTGGGAGAC	0.537000														33			10		0	0	0.00185496	0	0
POTEC	388468	broad.mit.edu	37	18	14537808	14537808	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:14537808T>C	uc010dln.3	-	2	1256	c.802A>G	c.(802-804)Aaa>Gaa	p.K268E	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	268										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						ACCTTGTTTTTTGATTCAATA	0.363000														52			5		0	0	0.00198382	0	0
INHBE	83729	broad.mit.edu	37	12	57849565	57849565	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:57849565G>A	uc001snw.3	+	0	470	c.246G>A	c.(244-246)ggG>ggA	p.G82G		NM_031479	NP_113667	P58166	INHBE_HUMAN	Homo sapiens inhibin, beta E (INHBE), mRNA.	82					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						TACAGCCAGGGAGTGTGGCTC	0.587000											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		9			10		0	0	0.000978159	0	0
UBE2MP1	606551	broad.mit.edu	37	16	34404138	34404138	+	RNA	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:34404138A>C	uc002edv.1	-	0		c.625T>G								Homo sapiens ubiquitin-conjugating enzyme E2M pseudogene 1 (UBE2MP1), non-coding RNA.																		CTGCTCCAACAGCTGCCGGTT	0.577000														15			4		0	0	0.00024832	0	0
ZNF493	284443	broad.mit.edu	37	19	21605951	21605951	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:21605951C>T	uc002npw.3	+	3	609	c.490C>T	c.(490-492)Cat>Tat	p.H164Y	ZNF493_uc002npx.3_Missense_Mutation_p.H36Y|ZNF493_uc002npy.3_Missense_Mutation_p.H36Y|ZNF493_uc021urq.1_Missense_Mutation_p.H36Y	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						GAAAGTCTTTCATAAACTTTT	0.294000														47			28		0	0	0.000878237	0	0
TOX2	84969	broad.mit.edu	37	20	42693471	42693471	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:42693471G>A	uc010ggo.3	+	5	974	c.934G>A	c.(934-936)Gcc>Acc	p.A312T	TOX2_uc002xle.4_Missense_Mutation_p.A270T|TOX2_uc010ggp.3_Missense_Mutation_p.A270T|TOX2_uc002xlf.4_Intron|TOX2_uc010zwk.2_Missense_Mutation_p.A190T	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	302					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			GGCCCTGGCAGCCTACCGGGC	0.552000														58			6		0	0	0.00198382	0	0
NLRP5	126206	broad.mit.edu	37	19	56549468	56549468	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:56549468C>T	uc002qmj.3	+	9	2693	c.2693C>T	c.(2692-2694)tCt>tTt	p.S898F	NLRP5_uc002qmi.3_Missense_Mutation_p.S879F	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	898						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AGCCTGAAATCTCTGAGCCTG	0.547000														35			9		0	0	0.000442599	0	0
SERPINA12	145264	broad.mit.edu	37	14	94962795	94962795	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:94962795G>A	uc001ydj.3	-	3	1616	c.820C>T	c.(820-822)Ctt>Ttt	p.L274F		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	274					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TCATCAGGAAGGATGAAGATG	0.473000														45			30		0	0	0.00283554	0	0
HGF	3082	broad.mit.edu	37	7	81386535	81386535	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:81386535G>A	uc003uhl.3	-	3	617	c.452C>T	c.(451-453)cCc>cTc	p.P151L	HGF_uc003uhm.3_Missense_Mutation_p.P151L|HGF_uc003uhn.1_Missense_Mutation_p.P151L|HGF_uc003uho.1_Missense_Mutation_p.P151L|HGF_uc003uhp.3_Missense_Mutation_p.P151L|HGF_uc022agw.1_Missense_Mutation_p.P151L	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	151	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GGAACTCCAGGGCTGACATTT	0.398000														86			14		0	0	0.000566183	0	0
TAS2R60	338398	broad.mit.edu	37	7	143141184	143141184	+	Missense_Mutation	SNP	G	A	A	rs141559059		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:143141184G>A	uc011ktg.2	+	0	639	c.639G>A	c.(637-639)atG>atA	p.M213I	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	213					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity	p.M213I(4)		breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TCATTTGCATGATTTTGCTCA	0.463000														50			74		0	0	0.000781405	0	0
CSMD1	64478	broad.mit.edu	37	8	2886843	2886843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:2886843C>T	uc022aqr.1	-	50	8243	c.7853G>A	c.(7852-7854)cGa>cAa	p.R2618Q	CSMD1_uc011kwj.2_Missense_Mutation_p.R1948Q|CSMD1_uc010lrg.3_Missense_Mutation_p.R687Q	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2619	Sushi 16.					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)		TCACTTACCTCGACAGCTTGG	0.522000														23			5		0	0	0.00116845	0	0
FYB	2533	broad.mit.edu	37	5	39202605	39202605	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:39202605G>A	uc003jls.3	-	0	525	c.458C>T	c.(457-459)cCg>cTg	p.P153L	FYB_uc003jlt.3_Missense_Mutation_p.P153L|FYB_uc003jlu.3_Missense_Mutation_p.P153L|FYB_uc011cpl.2_Missense_Mutation_p.P163L	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	153					NLS-bearing substrate import into nucleus|T cell receptor signaling pathway|cell junction assembly|immune response|intracellular protein kinase cascade|protein phosphorylation	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			CCCAGATTTCGGGCCTAGTGG	0.453000														71			17		0	0	0.00074312	0	0
CLIP2	7461	broad.mit.edu	37	7	73790984	73790984	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:73790984C>T	uc003uam.3	+	9	2580	c.2253C>T	c.(2251-2253)ttC>ttT	p.F751F	CLIP2_uc003uan.3_Silent_p.F716F|CLIP2_uc003uao.3_Silent_p.F145F	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	751						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CTATCGAGTTCCTCAAGGAGC	0.637000														52			5		0	0	0.000157383	0	0
GUCY1B3	2983	broad.mit.edu	37	4	156723706	156723706	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:156723706C>A	uc003ipc.3	+	9	1555	c.1388C>A	c.(1387-1389)tCc>tAc	p.S463Y	GUCY1B3_uc011cio.2_Missense_Mutation_p.S485Y|GUCY1B3_uc011cip.2_Missense_Mutation_p.S443Y|GUCY1B3_uc003ipd.3_Missense_Mutation_p.S391Y|GUCY1B3_uc010iqf.3_Missense_Mutation_p.S430Y|GUCY1B3_uc010iqg.3_Missense_Mutation_p.S434Y|GUCY1B3_uc011ciq.2_Missense_Mutation_p.S391Y	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	Homo sapiens guanylate cyclase 1, soluble, beta 3 (GUCY1B3), mRNA.	463	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		CTGACTGATTCCCGGAAAAAC	0.488000														9			4		0.000602214	0.00201677	0.000602214	1	0
CSMD3	114788	broad.mit.edu	37	8	113326282	113326282	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:113326282C>T	uc003ynu.3	-	49	7709	c.7550_splice	c.e49-1	p.G2517_splice	CSMD3_uc003yns.3_Splice_Site_p.G1719_splice|CSMD3_uc003ynt.3_Splice_Site_p.G2477_splice|CSMD3_uc011lhx.2_Splice_Site_p.G2413_splice|CSMD3_uc003ynw.1_Splice_Site_p.G228_splice	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2517	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATATTTGGTCCTTTGGGAAGA	0.289000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				72			7		0	0	0.000274275	0	0
NUP210	23225	broad.mit.edu	37	3	13378289	13378289	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:13378289C>T	uc003bxv.1	-	26	3765	c.3682G>A	c.(3682-3684)Gag>Aag	p.E1228K		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1228					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TTACCTACCTCGTGGTGCCGC	0.647000														10			4		0	0	0.00024832	0	0
FOXK1	221937	broad.mit.edu	37	7	4780549	4780549	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:4780549C>T	uc003snc.1	+	1	651	c.641C>T	c.(640-642)cCg>cTg	p.P214L	FOXK1_uc003sna.1_Missense_Mutation_p.P51L|FOXK1_uc003snb.1_Missense_Mutation_p.P214L	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	Homo sapiens forkhead box K1 (FOXK1), mRNA.	214					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P214L(2)|p.P214Q(2)|p.P40L(1)|p.P40Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CCAGCCTCCCCGCTGCGGCCA	0.647000														67			15		0	0	0.000308642	0	0
RGS17	26575	broad.mit.edu	37	6	153365070	153365070	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:153365070A>G	uc003qpm.3	-	1	240	c.84T>C	c.(82-84)tgT>tgC	p.C28C		NM_012419	NP_036551	Q9UGC6	RGS17_HUMAN	Homo sapiens regulator of G-protein signaling 17 (RGS17), mRNA.	28	Poly-Cys.				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		AACAAAAGCAACAGGTGTTGT	0.517000														41			12		0	0	0.00185496	0	0
VCAM1	7412	broad.mit.edu	37	1	101194687	101194687	+	Missense_Mutation	SNP	C	T	T	rs3783611	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:101194687C>T	uc001dti.3	+	4	1174	c.953C>T	c.(952-954)tCc>tTc	p.S318F	VCAM1_uc010ouj.2_Missense_Mutation_p.S256F|VCAM1_uc001dtj.3_Intron	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	318	Ig-like C2-type 4.		S -> F (in dbSNP:rs3783611).		heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GTTGAGATCTCCCCTGGACCC	0.433000														23			33		0	0	0.00128727	0	0
DPRX	503834	broad.mit.edu	37	19	54140039	54140039	+	Nonsense_Mutation	SNP	C	T	T	rs150237904		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:54140039C>T	uc002qcf.1	+	2	424	c.373C>T	c.(373-375)Cga>Tga	p.R125*		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	Homo sapiens divergent-paired related homeobox (DPRX), mRNA.	125						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CACGGGTCATCGAGTCCCCTC	0.567000														40			13		0	0	0.00244969	0	0
EP400	57634	broad.mit.edu	37	12	132505633	132505633	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:132505633C>T	uc001ujn.3	+	22	4609	c.4457C>T	c.(4456-4458)gCc>gTc	p.A1486V	EP400_uc021rgq.1_Missense_Mutation_p.A1485V|EP400_uc001ujm.3_Intron	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1522					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GCAGCAGCAGCCCCGTTTCAG	0.488000														66			10		0	0	0.00244969	0	0
MUT	4594	broad.mit.edu	37	6	49425457	49425457	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:49425457G>A	uc003ozg.4	-	2	965	c.700C>T	c.(700-702)Cct>Tct	p.P234S		NM_000255	NP_000246	P22033	MUTA_HUMAN	Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.	234					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTTCTGGAGGAAAAATGTAT	0.323000														75			10		0	0	0.000442599	0	0
PIP5K1A	8394	broad.mit.edu	37	1	151206687	151206687	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:151206687C>T	uc001exj.3	+	7	1106	c.654C>T	c.(652-654)aaC>aaT	p.N218N	PIP5K1A_uc021oyo.1_Silent_p.N206N|PIP5K1A_uc001exi.3_Silent_p.N205N|PIP5K1A_uc010pcu.2_Silent_p.N206N|PIP5K1A_uc001exk.3_Silent_p.N205N|PIP5K1A_uc010pcv.2_5'UTR	NM_001135638	NP_001129110	Q99755	PI51A_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, alpha (PIP5K1A), transcript variant 1, mRNA.	218	PIPK.				phospholipid biosynthetic process|signal transduction	Golgi stack|endomembrane system|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCAACCAGAACCCTCGGACTT	0.443000														93			14		0	0	0.000566183	0	0
CCIN	881	broad.mit.edu	37	9	36170051	36170051	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:36170051C>T	uc003zzb.4	+	0	663	c.552C>T	c.(550-552)ctC>ctT	p.L184L		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	184	BACK.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GCCGCCTGCTCCGTGATGAAA	0.532000														14			4		0	0	0.00116845	0	0
MYOCD	93649	broad.mit.edu	37	17	12656424	12656424	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:12656424C>T	uc002gno.2	+	9	2118	c.1819C>T	c.(1819-1821)Cag>Tag	p.Q607*	MYOCD_uc002gnn.2_Nonsense_Mutation_p.Q607*|MYOCD_uc002gnp.1_Nonsense_Mutation_p.Q511*|MYOCD_uc002gnq.2_Nonsense_Mutation_p.Q326*	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	607					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGCTCAACTCCAGCCTCTTGG	0.512000														51			28		0	0	0.00283554	0	0
FAM20C	56975	broad.mit.edu	37	7	195687	195687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:195687G>A	uc003sip.3	+	1	970	c.739G>A	c.(739-741)Gag>Aag	p.E247K		NM_020223	NP_064608	Q8IXL6	DMP4_HUMAN	Homo sapiens family with sequence similarity 20, member C (FAM20C), mRNA.	247						extracellular region				endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		CCCGGCCATCGAGGCCCTGCT	0.632000														50			7		0	0	0.000442599	0	0
DMRTB1	63948	broad.mit.edu	37	1	53932313	53932313	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:53932313C>T	uc001cvq.1	+	3	1062	c.1007C>T	c.(1006-1008)tCg>tTg	p.S336L		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	336					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						AGCCAGCCATCGTCTCAGGAG	0.557000														101			25		0	0	0.001512	0	0
ARAP3	64411	broad.mit.edu	37	5	141036104	141036104	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:141036104A>G	uc003llm.3	-	26	3834	c.3756T>C	c.(3754-3756)cgT>cgC	p.R1252R	ARAP3_uc003lll.3_Silent_p.R203R|ARAP3_uc011dbe.2_Silent_p.R914R|ARAP3_uc003lln.3_Silent_p.R1083R	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1252	PH 3.				cytoskeleton organization|negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|Rho GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGCAGCGGCCACGCAGCAGAA	0.642000														6			5		0	0	0.000602214	0	0
TTN	7273	broad.mit.edu	37	2	179438574	179438574	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179438574C>T	uc021vsy.1	-	274	64806	c.64581G>A	c.(64579-64581)agG>agA	p.R21527R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.R15222R|TTN_uc021vta.1_Silent_p.R15155R|TTN_uc021vtb.1_Silent_p.R15030R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22454	Fibronectin type-III 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R21526R(1)		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)			CACCACTATCCCTTCTTGTTG	0.413000														33			14		0	0	0.00074312	0	0
FAM129A	116496	broad.mit.edu	37	1	184765049	184765049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:184765049C>T	uc001gra.3	-	13	2043	c.1849G>A	c.(1849-1851)Gaa>Aaa	p.E617K	FAM129A_uc001grb.1_Missense_Mutation_p.E380K	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	617					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGGAATACTTCGTTACTGAGG	0.572000														53			16		0	0	0.00074312	0	0
KSR2	283455	broad.mit.edu	37	12	117962911	117962911	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:117962911G>A	uc001two.2	-	13	1933	c.1878C>T	c.(1876-1878)ttC>ttT	p.F626F		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	655					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACTCCTGAAGGAAGATGCTGG	0.607000														39			7		0	0	0.000157383	0	0
CACNA1F	778	broad.mit.edu	37	X	49063015	49063015	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:49063015C>T	uc004dnb.3	-	45	5524	c.5462G>A	c.(5461-5463)gGc>gAc	p.G1821D	CACNA1F_uc010nip.3_Missense_Mutation_p.G1810D	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1821					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	ATGATAGGTGCCTGGGATGGG	0.622000														19			9		0	0	0.00136819	0	0
FAM5B	57795	broad.mit.edu	37	1	177226508	177226508	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:177226508G>A	uc001glf.3	+	3	969	c.657G>A	c.(655-657)acG>acA	p.T219T	FAM5B_uc010pna.1_5'UTR|FAM5B_uc001glg.3_Silent_p.T114T	NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	219						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						AGATAGCCACGGGGGCCATCA	0.612000														10			5		0	0	0.000602214	0	0
OTOS	150677	broad.mit.edu	37	2	241078668	241078668	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:241078668G>A	uc002vyv.3	-	3	344	c.189C>T	c.(187-189)atC>atT	p.I63I	MYEOV2_uc002vyu.1_5'Flank|MYEOV2_uc010zof.1_5'Flank	NM_148961	NP_683764	Q8NHW6	OTOSP_HUMAN	Homo sapiens otospiralin (OTOS), mRNA.	63						extracellular region				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		CCATGTCCTCGATCTGGGGGT	0.622000														20			17		0	0	0.000958276	0	0
ZNF283	284349	broad.mit.edu	37	19	44351947	44351947	+	Silent	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:44351947T>C	uc002oxr.4	+	6	1462	c.1194T>C	c.(1192-1194)acT>acC	p.T398T	ZNF283_uc002oxp.4_Silent_p.T259T	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	Homo sapiens zinc finger protein 283 (ZNF283), mRNA.	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TATTTCATACTGGTGAGAAAC	0.363000														124			22		0	0	0.00047179	0	0
ARHGAP5	394	broad.mit.edu	37	14	32560773	32560773	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:32560773C>T	uc001wrl.3	+	1	1137	c.898C>T	c.(898-900)Cat>Tat	p.H300Y	ARHGAP5_uc001wrm.3_Missense_Mutation_p.H300Y|ARHGAP5_uc001wrn.3_Missense_Mutation_p.H300Y|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	300	FF 1.				Rho protein signal transduction|cell adhesion	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.H300Y(2)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATTAAAAAATCATCCTGATTA	0.313000														173			34		0	0	0.000953801	0	0
ZFR	51663	broad.mit.edu	37	5	32415291	32415291	+	Splice_Site	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:32415291G>A	uc003jhr.1	-	5	646	c.566_splice	c.e5-1	p.A189_splice	ZFR_uc010iun.1_Splice_Site_p.A189_splice	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	189	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		CTGCTTTGGGGGCTGAAGTAG	0.438000														130			34		0	0	0.00128727	0	0
HIVEP3	59269	broad.mit.edu	37	1	42047508	42047508	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:42047508C>T	uc001cgz.4	-	3	4174	c.2961G>A	c.(2959-2961)gaG>gaA	p.E987E	HIVEP3_uc001cha.4_Silent_p.E987E|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	987	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.R986L(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				ACCTCCGCATCTCTCGGGCAT	0.597000														40			12		0	0	0.00185496	0	0
GBP7	388646	broad.mit.edu	37	1	89607325	89607325	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:89607325C>T	uc001dna.2	-	8	1511	c.1372G>A	c.(1372-1374)Gag>Aag	p.E458K	GBP2_uc001dmy.1_Intron	NM_207398	NP_997281	Q8N8V2	GBP7_HUMAN	Homo sapiens guanylate binding protein 7 (GBP7), mRNA.	458						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TGGAGGACCTCGTCTGCCTGA	0.488000														22			9		0	0	0.00136819	0	0
ANKRD36B	57730	broad.mit.edu	37	2	98195377	98195377	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:98195377C>T	uc010yvc.1	-	4	967	c.687G>A	c.(685-687)gaG>gaA	p.E229E	ANKRD36B_uc010yve.1_Non-coding_Transcript|ANKRD36B_uc010fif.2_Intron	NM_025190	NP_079466	Q8N2N9	AN36B_HUMAN	Homo sapiens ankyrin repeat domain 36B (ANKRD36B), mRNA.	229																	ACACTCTATTCTCAGCCTCAC	0.333000														62			30		0	0	0.00058488	0	0
PTPRD	5789	broad.mit.edu	37	9	8528669	8528669	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:8528669G>A	uc003zkk.3	-	14	1206	c.463C>T	c.(463-465)Cca>Tca	p.P155S	PTPRD_uc003zkp.3_Missense_Mutation_p.P155S|PTPRD_uc003zkq.3_Missense_Mutation_p.P155S|PTPRD_uc003zkr.3_Missense_Mutation_p.P155S|PTPRD_uc003zks.3_Missense_Mutation_p.P155S|PTPRD_uc022bdj.1_Missense_Mutation_p.P155S|PTPRD_uc003zkt.1_Missense_Mutation_p.P155S	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	155	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.D154Y(2)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTGATTTCTGGATCCGGATTA	0.488000										TSP Lung(15;0.13)				17			8		0	0	0.000274275	0	0
TTN	7273	broad.mit.edu	37	2	179419750	179419750	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179419750T>A	uc021vsy.1	-	279	80957	c.80732A>T	c.(80731-80733)aAa>aTa	p.K26911I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K20606I|TTN_uc021vta.1_Missense_Mutation_p.K20539I|TTN_uc021vtb.1_Missense_Mutation_p.K20414I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27838	Fibronectin type-III 96.						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)			TTGTAATTCTTTATCATCTTT	0.418000														15			8		0	0	0.000157383	0	0
KIAA1199	57214	broad.mit.edu	37	15	81172181	81172181	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:81172181C>T	uc002bfw.1	+	3	626	c.366C>T	c.(364-366)atC>atT	p.I122I	KIAA1199_uc010unn.1_Silent_p.I122I	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	122	G8.									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						ATTTCACCATCATTTTGTATG	0.522000														25			13		0	0	0.00185496	0	0
C10orf129	142827	broad.mit.edu	37	10	96971721	96971721	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:96971721G>A	uc001kke.3	+	5	967	c.842G>A	c.(841-843)gGa>gAa	p.G281E	C10orf129_uc009xuu.1_Missense_Mutation_p.G191E	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	281					fatty acid metabolic process	mitochondrion	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GCTGTCTTGGGAACTTGGTTC	0.483000														25			11		0	0	0.00136819	0	0
OTUD7B	56957	broad.mit.edu	37	1	149916304	149916304	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:149916304G>A	uc001etn.3	-	11	2340	c.1984C>T	c.(1984-1986)Cct>Tct	p.P662S		NM_020205	NP_064590	Q6GQQ9	OTU7B_HUMAN	Homo sapiens OTU domain containing 7B (OTUD7B), mRNA.	662					negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|cysteine-type peptidase activity|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|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)|STAD - Stomach adenocarcinoma(528;0.247)			TTGGCTGGAGGAGGGCCACCC	0.577000														42			17		0	0	0.000566183	0	0
PLA2G7	7941	broad.mit.edu	37	6	46682279	46682279	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:46682279T>C	uc010jzf.3	-	4	657	c.388A>G	c.(388-390)Act>Gct	p.T130A	PLA2G7_uc021zae.1_Missense_Mutation_p.T130A|PLA2G7_uc011dwd.1_Missense_Mutation_p.T85A|PLA2G7_uc011dwe.1_Missense_Mutation_p.T3A	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA.	130					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			TTTGCAGGAGTTGTCATTGAA	0.393000														99			12		0	0	0.00136819	0	0
KRTAP3-2	83897	broad.mit.edu	37	17	39155897	39155897	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:39155897G>A	uc002hvs.3	-	0	242	c.209C>T	c.(208-210)tCc>tTc	p.S70F		NM_031959	NP_114165	Q9BYR7	KRA32_HUMAN	Homo sapiens keratin associated protein 3-2 (KRTAP3-2), mRNA.	70						keratin filament	structural molecule activity			endometrium(1)|large_intestine(1)|lung(1)	3		Breast(137;0.00043)				TGGCTGGCAGGAGTTGAGCAG	0.612000														51			13		0	0	0.000308642	0	0
ANO2	57101	broad.mit.edu	37	12	5744470	5744470	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:5744470C>T	uc001qnm.2	-	16	1736	c.1664G>A	c.(1663-1665)cGa>cAa	p.R555Q		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	560						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						AGTTGTTATTCGATACACTAT	0.488000														19			5		0	0	0.00198382	0	0
TPH2	121278	broad.mit.edu	37	12	72338444	72338444	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:72338444C>T	uc009zrw.1	+	3	659	c.518C>T	c.(517-519)tCt>tTt	p.S173F	TPH2_uc001swy.2_Missense_Mutation_p.S83F	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	173					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	ATGTATGGTTCTGAGCTTGAT	0.483000														36			8		0	0	0.000274275	0	0
SEZ6	124925	broad.mit.edu	37	17	27308796	27308796	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:27308796G>A	uc002hdp.2	-	1	511	c.317C>T	c.(316-318)cCc>cTc	p.P106L	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Missense_Mutation_p.P106L|SEZ6_uc002hdq.1_5'UTR|SEZ6_uc010crz.1_Missense_Mutation_p.P106L	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	106	Pro-rich.					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)			GCGGGGAAGGGGACTTGGGGT	0.637000														32			14		0	0	0.00229938	0	0
RP1	6101	broad.mit.edu	37	8	55537937	55537937	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:55537937C>T	uc003xsd.1	+	3	1643	c.1495C>T	c.(1495-1497)Cac>Tac	p.H499Y	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	499					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTCTGAGTATCACATGTTTAC	0.358000														62			6		0	0	0.00116845	0	0
LRP6	4040	broad.mit.edu	37	12	12277576	12277576	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:12277576G>A	uc001rah.4	-	21	4612	c.4470C>T	c.(4468-4470)tcC>tcT	p.S1490S	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Silent_p.S1445S	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1490					Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CTGTGGCTGGGGATGGTGGAG	0.333000														152			131		0	0	0.000781405	0	0
SORL1	6653	broad.mit.edu	37	11	121384861	121384861	+	Splice_Site	SNP	G	A	A	rs149041363		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:121384861G>A	uc001pxx.3	+	8	1171	c.1042_splice	c.e8-1	p.E348_splice		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	348					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.E348K(1)		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)		GATTCCAAAGGAATATTACAT	0.433000														28			11		0	0	0.00185496	0	0
PRG4	10216	broad.mit.edu	37	1	186266058	186266058	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:186266058C>T	uc001gru.4	+	1	102	c.51C>T	c.(49-51)ttC>ttT	p.F17F	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Silent_p.F17F|PRG4_uc009wyl.3_Silent_p.F17F|PRG4_uc009wym.3_Silent_p.F17F|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	17					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TGTCTGTTTTCGTGATTCAGC	0.358000														36			5		0	0	0.00198382	0	0
TTC23	64927	broad.mit.edu	37	15	99759151	99759151	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:99759151G>A	uc002bur.3	-	5	938	c.407C>T	c.(406-408)tCc>tTc	p.S136F	TTC23_uc002bus.3_Missense_Mutation_p.S136F|TTC23_uc002but.3_Missense_Mutation_p.S136F|TTC23_uc002buu.3_Missense_Mutation_p.S136F|TTC23_uc002buv.3_Missense_Mutation_p.S136F|TTC23_uc002bux.3_Missense_Mutation_p.S136F|TTC23_uc002buw.3_Missense_Mutation_p.S136F|TTC23_uc010boq.3_Non-coding_Transcript|TTC23_uc002buy.3_Missense_Mutation_p.S136F|TTC23_uc010bor.3_Missense_Mutation_p.S136F|TTC23_uc002buz.2_Missense_Mutation_p.S136F	NM_022905	NP_075056	Q5W5X9	TTC23_HUMAN	Homo sapiens tetratricopeptide repeat domain 23 (TTC23), transcript variant 2, mRNA.	136							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			AAGCTCAATGGAAAACTTGAA	0.398000														93			17		0	0	0.00074312	0	0
VWA3B	200403	broad.mit.edu	37	2	98853107	98853107	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:98853107G>A	uc002syo.3	+	18	2851	c.2587G>A	c.(2587-2589)Gat>Aat	p.D863N	VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.D382N|VWA3B_uc002sym.3_Missense_Mutation_p.D863N|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.D520N|VWA3B_uc002syp.1_Missense_Mutation_p.D255N|VWA3B_uc002syq.1_Missense_Mutation_p.D139N|VWA3B_uc002syr.1_Missense_Mutation_p.D180N|VWA3B_uc010fih.1_Non-coding_Transcript	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	863										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CACCCTCATGGATGCCTTGTC	0.483000														68			26		0	0	0.000720815	0	0
DCAF4	26094	broad.mit.edu	37	14	73409798	73409798	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:73409798C>T	uc001xng.3	+	5	748	c.528C>T	c.(526-528)ctC>ctT	p.L176L	DCAF4_uc010ttr.2_Silent_p.L154L|DCAF4_uc001xnj.3_Silent_p.L176L|DCAF4_uc001xnh.3_Silent_p.L76L|DCAF4_uc010tts.2_Intron|DCAF4_uc010ttt.2_5'UTR|DCAF4_uc001xni.3_Intron|DCAF4_uc001xnk.3_Silent_p.L176L	NM_015604	NP_851937	Q8WV16	DCAF4_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4 (DCAF4), transcript variant 1, mRNA.	176						CUL4 RING ubiquitin ligase complex				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|skin(1)	22						GATTTAACCTCATACTGGTGA	0.572000														19			8		0	0	0.000274275	0	0
PIGV	55650	broad.mit.edu	37	1	27124247	27124247	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:27124247C>T	uc001bmz.3	+	3	1757	c.1394C>T	c.(1393-1395)tCt>tTt	p.S465F	PIGV_uc001bna.3_Missense_Mutation_p.S465F|PIGV_uc010ofg.2_Missense_Mutation_p.S230F	NM_017837	NP_060307	Q9NUD9	PIGV_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class V (PIGV), transcript variant 2, mRNA.	465					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	glycolipid mannosyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	14		all_cancers(24;3.93e-26)|all_epithelial(13;3.96e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.26e-54)|Epithelial(14;2.85e-53)|OV - Ovarian serous cystadenocarcinoma(117;1.91e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000504)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.0222)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		AAAACCTGTTCTCCAGTCACA	0.502000														51			20		0	0	0.00188189	0	0
FOLH1	2346	broad.mit.edu	37	11	49208293	49208293	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:49208293C>T	uc001ngy.3	-	4	803	c.542G>A	c.(541-543)cGa>cAa	p.R181Q	FOLH1_uc009yly.3_Missense_Mutation_p.R166Q|FOLH1_uc009ylz.3_Missense_Mutation_p.R166Q|FOLH1_uc001ngz.3_Missense_Mutation_p.R181Q|FOLH1_uc009yma.3_5'UTR	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	181					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GTCTTCAGTTCGTGCATAGTT	0.383000														75			22		0	0	0.000586117	0	0
CYP3A7	1551	broad.mit.edu	37	7	99328737	99328737	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:99328737C>T	uc003uru.3	-	1	213	c.110G>A	c.(109-111)gGa>gAa	p.G37E	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	37					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CCCTGGAATTCCAAGCTTCTT	0.423000														50			12		0	0	0.00136819	0	0
PGD	5226	broad.mit.edu	37	1	10468171	10468171	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:10468171G>A	uc001arc.3	+	5	583	c.493G>A	c.(493-495)Gga>Aga	p.G165R	PGD_uc010oak.2_Missense_Mutation_p.G143R	NM_002631	NP_002622	P52209	6PGD_HUMAN	Homo sapiens phosphogluconate dehydrogenase (PGD), mRNA.	165					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		TGCAAAAGTGGGAACTGGAGA	0.498000														78			25		0	0	0.001512	0	0
TCF19	6941	broad.mit.edu	37	6	31130295	31130295	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31130295C>T	uc003nss.3	+	3	1363	c.839C>T	c.(838-840)cCc>cTc	p.P280L	TCF19_uc003nst.3_Missense_Mutation_p.P280L	NM_001077511	NP_009040	Q9Y242	TCF19_HUMAN	Homo sapiens transcription factor 19 (TCF19), transcript variant 2, mRNA.	280	Pro-rich.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GTGAGCGCTCCCATGGCTCCC	0.612000														49			5		0	0	0.000157383	0	0
PRAMEF4	400735	broad.mit.edu	37	1	12942972	12942973	+	Missense_Mutation	DNP	CT	TA	TA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:12942972_12942973CT>TA	uc001aun.2	-	1	314_315	c.243_244AG>TA	c.(241-246)caagct>caTAct	p.81_82QA>HT		NM_001009611	NP_001009611	O60810	PRAM4_HUMAN	Homo sapiens PRAME family member 4 (PRAMEF4), mRNA.	81										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCGAGCACAGCTTGGAAGGCCT	0.629000														26			5		0	0	6.4e-05	0	0
GPR158	57512	broad.mit.edu	37	10	25861759	25861759	+	Missense_Mutation	SNP	G	A	A	rs144380617		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:25861759G>A	uc001isj.3	+	6	1756	c.1696G>A	c.(1696-1698)Gat>Aat	p.D566N		NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	566						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D566N(4)		breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GAAAACATCCGATCACCTCAT	0.428000														26			5		0	0	0.000602214	0	0
DNAH7	56171	broad.mit.edu	37	2	196746620	196746620	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:196746620C>T	uc002utj.4	-	35	5961	c.5860G>A	c.(5860-5862)Gac>Aac	p.D1954N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1954	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CGAATTGTGTCCAGAGTTGGC	0.378000														65			40		0	0	0.00170553	0	0
SPEF1	25876	broad.mit.edu	37	20	3759628	3759628	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:3759628G>T	uc002wjj.3	-	3	556	c.388C>A	c.(388-390)Ccc>Acc	p.P130T		NM_015417	NP_056232	Q9Y4P9	SPEF1_HUMAN	Homo sapiens sperm flagellar 1 (SPEF1), mRNA.	130						cilium axoneme|cytoplasm|cytoskeleton				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						CCATCCTGGGGAGCCAGCTCC	0.612000														10			6		3.59834e-05	0.000120803	0.00116845	1	0
MATN4	8785	broad.mit.edu	37	20	43929961	43929961	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:43929961C>T	uc002xnn.2	-	4	953	c.766_splice	c.e4+1	p.A256_splice	MATN4_uc002xnp.2_Intron|MATN4_uc002xno.2_Intron|MATN4_uc010zwr.1_Splice_Site_p.A204_splice|MATN4_uc002xnr.1_Splice_Site_p.A256_splice	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	297	EGF-like 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TGTTGCTCACCCCTGCAGCTC	0.587000											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		66			21		0	0	0.00229938	0	0
PSKH2	85481	broad.mit.edu	37	8	87076279	87076279	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:87076279A>G	uc011lfy.2	-	1	767	c.767T>C	c.(766-768)cTt>cCt	p.L256P		NM_033126	NP_149117	Q96QS6	KPSH2_HUMAN	Homo sapiens protein serine kinase H2 (PSKH2), mRNA.	256	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GAATCCGCTAAGTAAAGCATA	0.438000														79			10		0	0	0.000673444	0	0
SLC36A2	153201	broad.mit.edu	37	5	150696446	150696446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:150696446C>T	uc003lty.3	-	9	1514	c.1384G>A	c.(1384-1386)Gcc>Acc	p.A462T	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Missense_Mutation_p.A264T	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	462					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCGTCCAGGGCCTGGTAGGTC	0.592000														21			8		0	0	0.000157383	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049010	36049010	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:36049010G>A	uc003jjz.2	-	3	956	c.824C>T	c.(823-825)cCt>cTt	p.P275L	UGT3A2_uc011cos.2_Missense_Mutation_p.P241L|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	275						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGGTTTAATAGGTTTTTCCAT	0.463000														31			7		0	0	0.000673444	0	0
CHRNB3	1142	broad.mit.edu	37	8	42587062	42587062	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:42587062G>A	uc003xpi.1	+	4	740	c.612G>A	c.(610-612)ctG>ctA	p.L204L		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	204					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGGAAATACTGAACGCAAAGG	0.458000														87			16		0	0	0.00152264	0	0
ADCY1	107	broad.mit.edu	37	7	45699648	45699648	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:45699648C>T	uc003tne.4	+	6	1333	c.1315C>T	c.(1315-1317)Cat>Tat	p.H439Y	ADCY1_uc003tnd.3_Missense_Mutation_p.H214Y	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	439					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	p.H439R(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TAGGAAGGTTCATATCACAAA	0.522000														59			11		0	0	0.000978159	0	0
TNC	3371	broad.mit.edu	37	9	117791725	117791725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:117791725C>T	uc004bjj.4	-	24	6495	c.6083G>A	c.(6082-6084)aGa>aAa	p.R2028K	TNC_uc010mvf.3_Missense_Mutation_p.R1755K|TNC_uc022bmj.1_Missense_Mutation_p.R1665K	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	2028	Fibrinogen C-terminal.				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						GTTTTTGCGTCTCAGGAACAC	0.488000														36			19		0	0	0.00152264	0	0
SLC35G3	146861	broad.mit.edu	37	17	33520657	33520657	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:33520657A>T	uc002hjd.2	-	0	756	c.670T>A	c.(670-672)Ttc>Atc	p.F224I		NM_152462	NP_689675	Q8N808	AMAC1_HUMAN	Homo sapiens solute carrier family 35, member G3 (SLC35G3), mRNA.	224						integral to membrane											CCAGATAGGAAGGCCACTGTT	0.627000														24			27		0	0	0.000720815	0	0
UGT2A1	10941	broad.mit.edu	37	4	70505195	70505195	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:70505195C>T	uc011caq.2	-	2	883	c.767G>A	c.(766-768)aGa>aAa	p.R256K	UGT2A1_uc010ihu.3_Intron|UGT2A1_uc003hem.4_Intron|UGT2A1_uc010ihs.3_Missense_Mutation_p.R55K|UGT2A1_uc021xox.1_Missense_Mutation_p.R55K|UGT2A1_uc010iht.3_Intron	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	46					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ATTGTGATTTCTTTGAATCAA	0.373000														84			17		0	0	0.000566183	0	0
TCRBV12S3	0	broad.mit.edu	37	7	142206786	142206786	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142206786G>A	uc003vyj.2	-	1	116	c.69C>T	c.(67-69)atC>atT	p.I23I	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		GGCTCTGGGTGATTCCAGCAT	0.488000														26			9		0	0	0.000274275	0	0
FGD2	221472	broad.mit.edu	37	6	36995831	36995831	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:36995831C>T	uc010jwp.1	+	15	2031	c.1860C>T	c.(1858-1860)acC>acT	p.T620T	FGD2_uc003ong.2_Silent_p.T342T|FGD2_uc011dtv.1_Silent_p.T248T|FGD2_uc003onj.1_3'UTR	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	620	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGCTCTACACCTTCAAGGCCG	0.677000														34			8		0	0	0.000274275	0	0
LRP6	4040	broad.mit.edu	37	12	12339863	12339863	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:12339863G>A	uc001rah.4	-	3	980	c.838C>T	c.(838-840)Cca>Tca	p.P280S	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.P280S	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	280					Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TTACCATTTGGCTGCCTCTGT	0.448000														136			87		0	0	0.000781405	0	0
MUC17	140453	broad.mit.edu	37	7	100678765	100678765	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:100678765C>T	uc003uxp.1	+	2	4121	c.4068C>T	c.(4066-4068)atC>atT	p.I1356I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1356	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAATCAGCATCCTTTCAACAA	0.458000														215			34		0	0	0.000692331	0	0
IDUA	3425	broad.mit.edu	37	4	998168	998168	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:998168C>G	uc003gby.3	+	13	2037	c.1949C>G	c.(1948-1950)cCg>cGg	p.P650R	IDUA_uc003gbz.3_Non-coding_Transcript|IDUA_uc003gca.3_Missense_Mutation_p.P672R	NM_000203	NP_000194	P35475	IDUA_HUMAN	Homo sapiens iduronidase, alpha-L- (IDUA), mRNA.	650					disaccharide metabolic process	lysosome	L-iduronidase activity|cation binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	CCCCCATCCCCGGGCAATCCA	0.677000														14			3		0	0	6.4e-05	0	0
ANO4	121601	broad.mit.edu	37	12	101480470	101480470	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:101480470C>T	uc010svm.1	+	16	2141	c.1569C>T	c.(1567-1569)atC>atT	p.I523I	ANO4_uc001thw.2_Silent_p.I488I|ANO4_uc001thx.2_Silent_p.I523I|ANO4_uc001thy.2_Silent_p.I43I	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	523						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGTTCGGGATCGTCATTTACC	0.517000										HNSCC(74;0.22)				55			15		0	0	0.000422831	0	0
COL24A1	255631	broad.mit.edu	37	1	86515844	86515844	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:86515844G>A	uc001dlj.3	-	10	1943	c.1868C>T	c.(1867-1869)cCt>cTt	p.P623L	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.P623L	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	623					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CGCTTCTCCAGGAGAGCCAAT	0.358000														64			18		0	0	0.00152264	0	0
CEACAM20	125931	broad.mit.edu	37	19	45028250	45028250	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:45028250C>G	uc010ejn.1	-	2	257	c.241G>C	c.(241-243)Gag>Cag	p.E81Q	CEACAM20_uc010ejo.1_Missense_Mutation_p.E81Q|CEACAM20_uc010ejp.1_Missense_Mutation_p.E81Q|CEACAM20_uc010ejq.1_Missense_Mutation_p.E81Q	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	81	Ig-like C2-type 1.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TCCTTCTGCTCTATGGCAGTG	0.522000														179			42		0	0	0.000781405	0	0
SVEP1	79987	broad.mit.edu	37	9	113192631	113192631	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:113192631C>T	uc010mtz.3	-	32	5790	c.5453G>A	c.(5452-5454)gGa>gAa	p.G1818E	SVEP1_uc010mty.3_5'Flank	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1818	Sushi 7.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAACTGGTATCCTTCCTGACA	0.403000														10			4		0	0	0.00024832	0	0
PIK3C2G	5288	broad.mit.edu	37	12	18658353	18658353	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:18658353G>A	uc001rdt.3	+	22	3274	c.3158G>A	c.(3157-3159)gGa>gAa	p.G1053E	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.G1094E|PIK3C2G_uc010sic.2_Missense_Mutation_p.G872E	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1053	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATTGACTTTGGAAAATTCTTA	0.393000														17			7		0	0	0.000157383	0	0
KBTBD2	25948	broad.mit.edu	37	7	32909888	32909889	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:32909888_32909889GG>AA	uc003tdb.2	-	3	1599_1600	c.940_941CC>TT	c.(940-942)cct>TTt	p.P314F	AVL9_uc011kai.2_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 2 (KBTBD2), mRNA.	314										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			ATCATTATCAGGAGTTACAACG	0.411000														78			15		0	0	6.4e-05	0	0
MLXIPL	51085	broad.mit.edu	37	7	73013920	73013920	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:73013920A>T	uc003tyn.1	-	7	1055	c.1007T>A	c.(1006-1008)cTg>cAg	p.L336Q	MLXIPL_uc003tyj.1_5'Flank|MLXIPL_uc003tyk.1_Missense_Mutation_p.L336Q|MLXIPL_uc003tym.1_Missense_Mutation_p.L336Q|MLXIPL_uc003tyl.1_Missense_Mutation_p.L336Q|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Missense_Mutation_p.L243Q|MLXIPL_uc003tyq.1_Missense_Mutation_p.L78Q	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	336					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTCTGGGCCCAGGGTCCCACT	0.657000														58			10		0	0	0.000673444	0	0
ITGB2	3689	broad.mit.edu	37	21	46313432	46313432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:46313432G>A	uc002zgd.2	-	8	1155	c.1111C>T	c.(1111-1113)Cac>Tac	p.H371Y	ITGB2_uc002zgf.3_Missense_Mutation_p.H371Y|ITGB2_uc011afl.1_Missense_Mutation_p.H293Y|ITGB2_uc010gpw.2_Missense_Mutation_p.H314Y|ITGB2_uc002zgg.2_Missense_Mutation_p.H371Y	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	371					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AGGGCGTTGTGATCCAGGAAG	0.597000											OREG0026255	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		30			16		0	0	0.000566183	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35171960	35171960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:35171960C>T	uc003teq.1	-	11	1474	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	DPY19L2P1_uc003tep.1_Non-coding_Transcript|DPY19L2P1_uc010kwz.1_Non-coding_Transcript					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		TTTTGAATTTCATTTCTCTTT	0.239000														24			6		0	0	0.000157383	0	0
MFNG	4242	broad.mit.edu	37	22	37876305	37876306	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:37876305_37876306CC>TT	uc003ass.2	-	2	599_600	c.336_337GG>AA	c.(334-339)gcggaa>gcAAaa	p.E113K	MFNG_uc011anj.2_Missense_Mutation_p.E99K|MFNG_uc011ani.2_5'UTR|CARD10_uc003ast.1_Non-coding_Transcript	NM_002405	NP_002396	O00587	MFNG_HUMAN	Homo sapiens MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (MFNG), transcript variant 1, mRNA.	113					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					TGGCTGTGTTCCGCGGAGCAGT	0.599000														28			6		0	0	6.4e-05	0	0
DNAH8	1769	broad.mit.edu	37	6	38702357	38702357	+	Missense_Mutation	SNP	C	T	T	rs145773185		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:38702357C>T	uc021yzh.1	+	4	827	c.718C>T	c.(718-720)Cgt>Tgt	p.R240C	DNAH8_uc003ooe.2_Missense_Mutation_p.R23C	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						ATTTTTTGTTCGTTGCCGTAA	0.318000														138			16		0	0	0.00074312	0	0
TNIP1	10318	broad.mit.edu	37	5	150411892	150411892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:150411892C>T	uc003lti.3	-	16	2073	c.1832G>A	c.(1831-1833)aGc>aAc	p.S611N	TNIP1_uc011dcn.2_Missense_Mutation_p.S129N|TNIP1_uc010jhq.2_Intron|TNIP1_uc010jho.2_Non-coding_Transcript|TNIP1_uc010jhp.2_Missense_Mutation_p.S494N|TNIP1_uc010jhl.3_Non-coding_Transcript|TNIP1_uc010jhn.3_Intron|TNIP1_uc010jhm.3_Missense_Mutation_p.S547N|TNIP1_uc010jhr.2_Missense_Mutation_p.S611N|TNIP1_uc011dco.2_Missense_Mutation_p.A617T|TNIP1_uc003ltg.3_Missense_Mutation_p.S558N|TNIP1_uc003ltk.3_Missense_Mutation_p.S611N|TNIP1_uc003ltj.3_Missense_Mutation_p.S611N|TNIP1_uc021ygb.1_Missense_Mutation_p.S611N	NM_006058	NP_006049	Q15025	TNIP1_HUMAN	Homo sapiens TNFAIP3 interacting protein 1 (TNIP1), transcript variant 5, mRNA.	611	Pro-rich.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTTGGGAGCTCTGATTTGG	0.498000														24			6		0	0	0.000157383	0	0
NPSR1	387129	broad.mit.edu	37	7	34698142	34698142	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:34698142G>A	uc003teh.1	+	0	246	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	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.E40K|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.E40K|NPSR1_uc003tei.1_Missense_Mutation_p.E40K|NPSR1_uc010kww.1_Missense_Mutation_p.E40K|NPSR1_uc011kar.1_Missense_Mutation_p.E40K	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	40						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)	GGAAGGAAAGGAATGGGGTTC	0.478000														43			6		0	0	0.00198382	0	0
FAM135B	51059	broad.mit.edu	37	8	139158294	139158294	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:139158294C>T	uc003yuy.3	-	15	3620	c.3449_splice	c.e15-1	p.G1150_splice	FAM135B_uc003yux.3_Splice_Site_p.G1051_splice|FAM135B_uc003yuz.3_Splice_Site|FAM135B_uc003yva.3_Splice_Site_p.G712_splice|FAM135B_uc003yvb.3_Splice_Site_p.W677_splice	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	1150										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCACTGTTCCCTAAAAATGAC	0.453000										HNSCC(54;0.14)				61			12		0	0	0.00185496	0	0
KIAA0907	22889	broad.mit.edu	37	1	155896943	155896943	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:155896943G>A	uc001fmi.1	-	4	493	c.469C>T	c.(469-471)Cgt>Tgt	p.R157C	KIAA0907_uc001fmj.1_Missense_Mutation_p.R157C|KIAA0907_uc009wrl.1_Non-coding_Transcript|KIAA0907_uc001fml.1_Missense_Mutation_p.R157C|KIAA0907_uc001fmm.3_Missense_Mutation_p.R157C|SCARNA4_uc001fmn.1_5'Flank|KIAA0907_uc001fmo.3_Missense_Mutation_p.R157C	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	157										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TATAATGGACGATCCCTATAA	0.378000														57			12		0	0	0.000566183	0	0
ACSM4	341392	broad.mit.edu	37	12	7476905	7476905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:7476905G>A	uc001qsx.1	+	9	1345	c.1345G>A	c.(1345-1347)Gat>Aat	p.D449N		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	449					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						GATAAGAGGAGATTTTTATGT	0.453000														16			5		0	0	0.000602214	0	0
PTK2B	2185	broad.mit.edu	37	8	27296843	27296843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:27296843C>T	uc003xfn.2	+	24	2570	c.1762C>T	c.(1762-1764)Ccc>Tcc	p.P588S	PTK2B_uc022ate.1_Missense_Mutation_p.P588S|PTK2B_uc003xfp.2_Missense_Mutation_p.P588S|PTK2B_uc003xfq.2_Missense_Mutation_p.P588S|PTK2B_uc003xfr.1_Missense_Mutation_p.P334S	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	588	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GACTCGTCTCCCCATCAAATG	0.473000														98			25		0	0	0.0024448	0	0
NF1	4763	broad.mit.edu	37	17	29546050	29546050	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:29546050C>T	uc002hgg.3	+	13	1938	c.1555C>T	c.(1555-1557)Caa>Taa	p.Q519*	NF1_uc002hge.2_Nonsense_Mutation_p.Q519*|NF1_uc002hgf.2_Nonsense_Mutation_p.Q519*|NF1_uc002hgh.3_Nonsense_Mutation_p.Q519*|NF1_uc010csn.2_Nonsense_Mutation_p.Q379*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	519					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(5)|p.N510_E547del(2)|p.Q519P(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCCCGAAACCCAAGGCAGTAC	0.423000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				14			4		0	0	0.00024832	0	0
C6	729	broad.mit.edu	37	5	41203290	41203290	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:41203290G>A	uc003jmk.2	-	1	253	c.43C>T	c.(43-45)Ctg>Ttg	p.L15L	C6_uc003jml.1_Silent_p.L15L	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	15					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTGTTGATCAGAGCATTCAGC	0.473000														72			15		0	0	0.00244969	0	0
OR1Q1	158131	broad.mit.edu	37	9	125377471	125377471	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:125377471C>T	uc011lyy.2	+	0	455	c.455C>T	c.(454-456)tCc>tTc	p.S152F		NM_012364	NP_036496	Q15612	OR1Q1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily Q, member 1 (OR1Q1), mRNA.	152					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						CATGCTCTCTCCCACCTTCAT	0.488000														25			14		0	0	0.000422831	0	0
LMF2	91289	broad.mit.edu	37	22	50942286	50942286	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:50942286G>A	uc003blp.2	-	12	1797	c.1766C>T	c.(1765-1767)tCc>tTc	p.S589F	LMF2_uc003blo.2_Missense_Mutation_p.S564F	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	Homo sapiens lipase maturation factor 2 (LMF2), mRNA.	589						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTCCCCCAGGGACACGGATGG	0.672000														9			13		0	0	0.000308642	0	0
ZNF180	7733	broad.mit.edu	37	19	44980699	44980699	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:44980699C>T	uc002ozf.4	-	4	2281	c.1999G>A	c.(1999-2001)Gga>Aga	p.G667R	ZNF180_uc002ozh.4_Missense_Mutation_p.G324R|ZNF180_uc002ozi.4_Missense_Mutation_p.G640R|ZNF180_uc002ozg.4_Missense_Mutation_p.G666R|ZNF180_uc010ejm.3_Missense_Mutation_p.G642R	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	667					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				AAAGCTTTTCCACACTGAATA	0.353000														105			30		0	0	0.00106085	0	0
OR52N2	390077	broad.mit.edu	37	11	5841884	5841884	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5841884C>T	uc010qzp.2	+	0	319	c.319C>T	c.(319-321)Cat>Tat	p.H107Y	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTTTTTTGTCCATATGCTGAC	0.517000														18			20		0	0	0.00229938	0	0
SLC26A9	115019	broad.mit.edu	37	1	205896708	205896708	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:205896708T>C	uc001hdp.3	-	9	1241	c.1127A>G	c.(1126-1128)aAc>aGc	p.N376S	SLC26A9_uc001hdo.3_Missense_Mutation_p.N44S|SLC26A9_uc001hdq.3_Missense_Mutation_p.N376S	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	376						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GCCAAAGAAGTTGCTGCAGCC	0.547000														54			9		0	0	0.000673444	0	0
PKD2L2	27039	broad.mit.edu	37	5	137242080	137242080	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:137242080A>C	uc003lby.3	+	5	988	c.932A>C	c.(931-933)tAt>tCt	p.Y311S	PKD2L2_uc010jep.1_Missense_Mutation_p.Y251S|PKD2L2_uc003lbw.1_Missense_Mutation_p.Y311S|PKD2L2_uc003lbx.3_Missense_Mutation_p.Y311S|PKD2L2_uc011cyi.1_5'UTR	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA.	311						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AAGTCTGCCTATTTCAAAAGT	0.323000														55			16		0	0	0.00152264	0	0
NCF1B	654816	broad.mit.edu	37	7	72639930	72639931	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:72639930_72639931GG>AA	uc011ker.1	+	3	244_245	c.167_168GG>AA	c.(166-168)tgg>tAA	p.W56*	FKBP6_uc003twz.2_Intron|NCF1B_uc022afs.1_Intron					Homo sapiens neutrophil cytosolic factor 1B pseudogene (NCF1B), non-coding RNA.																		GCTCCCAAGTGGTTTGACGGGC	0.668000														22			6		0	0	6.4e-05	0	0
SPTA1	6708	broad.mit.edu	37	1	158644127	158644127	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158644127G>A	uc001fst.1	-	9	1541	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	448					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R448W(2)		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)					ACCTTTTCCCGAACTTCATCA	0.368000														112			23		0	0	0.00229938	0	0
UBR2	23304	broad.mit.edu	37	6	42627584	42627584	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:42627584C>T	uc011dur.2	+	29	3731	c.3433C>T	c.(3433-3435)Caa>Taa	p.Q1145*	UBR2_uc011dus.2_Nonsense_Mutation_p.Q790*|UBR2_uc003osh.3_Non-coding_Transcript	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	1145					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)			TAAATTTATTCAAGATCCAGG	0.358000														38			6		0	0	0.00198382	0	0
ARC	23237	broad.mit.edu	37	8	143694850	143694850	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:143694850C>T	uc022bca.1	-	0	783	c.783G>A	c.(781-783)gtG>gtA	p.V261V	ARC_uc003ywn.1_Silent_p.V261V	NM_015193	NP_056008	Q7LC44	ARC_HUMAN	Homo sapiens activity-regulated cytoskeleton-associated protein (ARC), mRNA.	261					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CCCAGTTCTTCACGGAGCCCT	0.622000														36			24		0	0	0.00106085	0	0
GMIP	51291	broad.mit.edu	37	19	19746466	19746466	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:19746466C>T	uc002nnd.3	-	13	1509	c.1392G>A	c.(1390-1392)gaG>gaA	p.E464E	GMIP_uc010xrb.2_Intron|GMIP_uc010xrc.2_Intron	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	464					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						GGTCTCGCTCCTCAAAGTCAT	0.622000														67			16		0	0	0.00074312	0	0
ENPP1	5167	broad.mit.edu	37	6	132196982	132196982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:132196982G>A	uc011ecf.2	+	16	1722	c.1702G>A	c.(1702-1704)Gaa>Aaa	p.E568K	ENPP1_uc003qcy.3_Missense_Mutation_p.E198K	NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	568	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TGAAAACATTGAAGTCTATAA	0.413000														28			9		0	0	0.000673444	0	0
GPR142	350383	broad.mit.edu	37	17	72366722	72366722	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:72366722G>A	uc021ucp.1	+	2	421	c.412G>A	c.(412-414)Gaa>Aaa	p.E138K	GPR142_uc010wqy.2_Missense_Mutation_p.E141K	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	141						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCAGGAGTTTGAAAGCCACTG	0.637000														20			5		0	0	0.00116845	0	0
HSPB8	26353	broad.mit.edu	37	12	119631582	119631582	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:119631582G>A	uc001txb.3	+	2	1033	c.510G>A	c.(508-510)caG>caA	p.Q170Q		NM_014365	NP_055180	Q9UJY1	HSPB8_HUMAN	Homo sapiens heat shock 22kDa protein 8 (HSPB8), mRNA.	170					cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGCTCCCCAGGTCCCTCCTT	0.522000														38			8		0	0	0.000157383	0	0
GPR15	2838	broad.mit.edu	37	3	98251936	98251936	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:98251936G>A	uc011bgy.2	+	0	1059	c.1059G>A	c.(1057-1059)agG>agA	p.R353R		NM_005290	NP_005281	P49685	GPR15_HUMAN	Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA.	353						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R353S(2)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TTGCCAGGAGGAGGAAGAGGT	0.438000														39			7		0	0	0.00198382	0	0
R3HDM2	22864	broad.mit.edu	37	12	57648709	57648709	+	Silent	SNP	G	A	A	rs149678283		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:57648709G>A	uc009zpm.1	-	21	2813	c.2778C>T	c.(2776-2778)ctC>ctT	p.L926L	R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Silent_p.L621L|R3HDM2_uc001snr.2_Silent_p.L653L|R3HDM2_uc001sns.2_Silent_p.L926L|R3HDM2_uc001snt.2_Silent_p.L940L	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	926						nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						ACAAGGCAGCGAGGTCCGAGT	0.612000														27			8		0	0	0.000157383	0	0
PLEKHA4	57664	broad.mit.edu	37	19	49362909	49362909	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:49362909G>A	uc002pkx.3	-	6	1060	c.509C>T	c.(508-510)cCc>cTc	p.P170L	PLEKHA4_uc010eml.3_Missense_Mutation_p.P170L	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	170	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding	p.Q169H(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		GCCCTCCCCGGGCTGGGGTCG	0.612000														25			6		0	0	0.00198382	0	0
TXNRD2	10587	broad.mit.edu	37	22	19870984	19870984	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:19870984C>T	uc021wlj.1	-	12	983	c.950_splice	c.e12-1	p.G317_splice	TXNRD2_uc002zqo.1_Splice_Site|TXNRD2_uc002zqr.1_Splice_Site_p.G316_splice|TXNRD2_uc002zqj.1_Splice_Site|TXNRD2_uc002zqq.1_5'Flank	NM_006440		Q9NNW7	TRXR2_HUMAN	Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA.	317					cell redox homeostasis|response to oxygen radical	mitochondrion	NADP binding|flavin adenine dinucleotide binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TGGGACTCGACCTGAAGGAAA	0.517000														71			9		0	0	0.000978159	0	0
SCRN1	9805	broad.mit.edu	37	7	29976306	29976307	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:29976306_29976307GG>AA	uc011kaa.2	-	5	879_880	c.830_831CC>TT	c.(829-831)acc>aTT	p.T277I	SCRN1_uc011jzy.2_Missense_Mutation_p.T189I|SCRN1_uc003tak.3_Missense_Mutation_p.T257I|SCRN1_uc011jzz.2_Missense_Mutation_p.T257I|SCRN1_uc011jzw.2_Missense_Mutation_p.T124I|SCRN1_uc010kvp.3_Missense_Mutation_p.T257I|SCRN1_uc011jzx.2_Missense_Mutation_p.T80I	NM_001145514	NP_001138986	Q12765	SCRN1_HUMAN	Homo sapiens secernin 1 (SCRN1), transcript variant 3, mRNA.	257					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						TGTCCCGTAAGGTGTTCATCAT	0.510000														119			19		0	0	6.4e-05	0	0
CYFIP2	26999	broad.mit.edu	37	5	156816212	156816212	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:156816212C>T	uc021ygm.1	+	28	3358	c.3220C>T	c.(3220-3222)Cgc>Tgc	p.R1074C	CYFIP2_uc011ddn.2_Missense_Mutation_p.R1049C|CYFIP2_uc011ddo.2_Missense_Mutation_p.R879C|CYFIP2_uc021ygn.1_Missense_Mutation_p.R1074C|CYFIP2_uc021ygo.1_Missense_Mutation_p.R1074C|CYFIP2_uc003lwt.3_Missense_Mutation_p.R978C|CYFIP2_uc011ddp.2_Missense_Mutation_p.R809C	NM_001037333	NP_001032410	Q96F07	CYFP2_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 2 (CYFIP2), transcript variant 1, mRNA.	1100					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGCCATTGCTCGCGAGGGTGA	0.577000														70			11		0	0	0.000978159	0	0
FLT1	2321	broad.mit.edu	37	13	29001422	29001422	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:29001422G>A	uc001usb.3	-	9	1595	c.1310C>T	c.(1309-1311)tCg>tTg	p.S437L	FLT1_uc010aar.1_Missense_Mutation_p.S437L|FLT1_uc001usc.3_Missense_Mutation_p.S437L|FLT1_uc010tdp.1_Missense_Mutation_p.S437L|HV303168_uc021rhp.1_5'Flank	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	437	Ig-like C2-type 5.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GTCTGGAAACGATGACACGGC	0.512000														16			6		0	0	0.000157383	0	0
GPLD1	2822	broad.mit.edu	37	6	24475400	24475400	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:24475400G>A	uc003ned.1	-	4	501	c.390C>T	c.(388-390)gtC>gtT	p.V130V	GPLD1_uc010jpr.1_Missense_Mutation_p.S2L|GPLD1_uc010jps.1_Silent_p.V130V|GPLD1_uc003nee.3_Silent_p.V130V	NM_001503	NP_001494	P80108	PHLD_HUMAN	Homo sapiens glycosylphosphatidylinositol specific phospholipase D1 (GPLD1), transcript variant 1, mRNA.	130						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						TATGCCAGCTGACATCTGCCG	0.458000														140			23		0	0	0.001512	0	0
ZNF223	7766	broad.mit.edu	37	19	44570825	44570825	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:44570825C>T	uc002oyf.1	+	4	1097	c.844C>T	c.(844-846)Cac>Tac	p.H282Y	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_013361	NP_037493	Q9UK11	ZN223_HUMAN	Homo sapiens zinc finger protein 223 (ZNF223), mRNA.	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				TCAGAGAATTCACACAGGGGA	0.423000														68			12		0	0	0.00136819	0	0
ARHGAP29	9411	broad.mit.edu	37	1	94640093	94640093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:94640093C>T	uc001dqj.4	-	22	3487	c.3118G>A	c.(3118-3120)Gga>Aga	p.G1040R	ARHGAP29_uc009wdq.1_Intron	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	1040					Rho protein signal transduction	cytosol	Rho GTPase activator activity|metal ion binding	p.G1040E(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTTACATTTCCCATATTTCTG	0.388000														53			23		0	0	0.00229938	0	0
OPN5	221391	broad.mit.edu	37	6	47754269	47754269	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:47754269G>A	uc003ozc.3	+	1	177	c.149G>A	c.(148-150)gGa>gAa	p.G50E	OPN5_uc003ozd.3_5'Flank	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	Homo sapiens opsin 5 (OPN5), transcript variant 1, mRNA.	50					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TCCACATTTGGAAATGGATAT	0.358000														102			9		0	0	0.000274275	0	0
PKDREJ	10343	broad.mit.edu	37	22	46654651	46654651	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:46654651A>T	uc003bhh.3	-	0	4569	c.4569T>A	c.(4567-4569)caT>caA	p.H1523Q		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1523					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GTGCTTTCCTATGCCTGTGCT	0.498000														110			60		0	0	0.000781405	0	0
SLC39A6	25800	broad.mit.edu	37	18	33706700	33706700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:33706700G>A	uc010dmy.3	-	1	561	c.271C>T	c.(271-273)Cat>Tat	p.H91Y	SLC39A6_uc002kzj.2_Intron	NM_012319	NP_001092876	Q13433	S39A6_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 6 (SLC39A6), transcript variant 1, mRNA.	91	His-rich.					integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity	p.I90I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						tggtgTATATGGATTCTTTTA	0.418000														32			9		0	0	0.000274275	0	0
TMC7	79905	broad.mit.edu	37	16	19032952	19032952	+	Splice_Site	SNP	G	A	A	rs145788880		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:19032952G>A	uc002dfp.2	+	4	591	c.461_splice	c.e4-1	p.G154_splice	TMC7_uc010vao.1_Splice_Site_p.G154_splice|TMC7_uc002dfq.3_Splice_Site_p.G154_splice|TMC7_uc010vap.2_Splice_Site_p.G44_splice	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	154						integral to membrane		p.G154G(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						TTTTTCCAGGGAAATTTGGCA	0.418000														66			16		0	0	0.00074312	0	0
SPTLC3	55304	broad.mit.edu	37	20	13029765	13029765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:13029765G>A	uc002wod.1	+	1	579	c.290G>A	c.(289-291)aGa>aAa	p.R97K	SPTLC3_uc002woc.3_Missense_Mutation_p.R97K	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	97					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)	GCTGTGGAAAGAAAAGAACAA	0.428000														41			14		0	0	0.00244969	0	0
ZNF280C	55609	broad.mit.edu	37	X	129377577	129377577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:129377577G>A	uc004evm.3	-	4	544	c.341C>T	c.(340-342)tCt>tTt	p.S114F	ZNF280C_uc010nrf.2_Missense_Mutation_p.S114F	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	114	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GCTTTGTGAAGATTTAGATAC	0.393000														58			17		0	0	0.000566183	0	0
MYH11	4629	broad.mit.edu	37	16	15841936	15841937	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:15841936_15841937GG>AA	uc002ddx.3	-	17	2275_2276	c.2168_2169CC>TT	c.(2167-2169)ccc>cTT	p.P723L	MYH11_uc002ddv.3_Missense_Mutation_p.P723L|MYH11_uc002ddw.3_Missense_Mutation_p.P716L|MYH11_uc002ddy.3_Missense_Mutation_p.P716L|MYH11_uc010bvg.3_Missense_Mutation_p.P548L	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	716	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGATCCGGTTGGGGAAGCCCTG	0.634000			T	CBFB	AML									23			8		0	0	6.4e-05	0	0
ROS1	6098	broad.mit.edu	37	6	117662625	117662625	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:117662625G>A	uc003pxp.1	-	28	5039	c.4840C>T	c.(4840-4842)Cca>Tca	p.P1614S	ROS1_uc011ebi.1_Intron|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1614	Fibronectin type-III 7.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CTTCCATTTGGAAATTCACTT	0.403000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""									26			11		0	0	0.000978159	0	0
NLRC4	58484	broad.mit.edu	37	2	32477592	32477592	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:32477592C>T	uc002roi.3	-	2	419	c.158G>A	c.(157-159)gGg>gAg	p.G53E	NLRC4_uc021vfq.1_Missense_Mutation_p.G53E|NLRC4_uc002roj.2_Missense_Mutation_p.G53E|NLRC4_uc010ezt.2_Missense_Mutation_p.G53E	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	53	CARD.				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)					GTGAATGATCCCTCTAGCAGC	0.403000														123			13		0	0	0.00244969	0	0
E2F8	79733	broad.mit.edu	37	11	19247302	19247302	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:19247302C>T	uc001mpm.3	-	10	2525	c.2003G>A	c.(2002-2004)aGg>aAg	p.R668K	E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Missense_Mutation_p.R668K	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	668					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTGTAAATCCTGTGGTTTGG	0.473000														56			33		0	0	0.00283554	0	0
GJC1	10052	broad.mit.edu	37	17	42882669	42882669	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:42882669G>A	uc002ihj.3	-	1	1028	c.517C>T	c.(517-519)Ctc>Ttc	p.L173F	GJC1_uc002ihk.3_Missense_Mutation_p.L173F|GJC1_uc002ihl.3_Missense_Mutation_p.L173F|GJC1_uc021tyf.1_Missense_Mutation_p.L173F	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	173					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				ATTTTCATGAGCCCATCTTCC	0.473000														109			23		0	0	0.000720815	0	0
XIRP1	165904	broad.mit.edu	37	3	39225965	39225965	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:39225965G>A	uc003cjk.2	-	1	5201	c.4972C>T	c.(4972-4974)Cgg>Tgg	p.R1658W	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.R341W|XIRP1_uc021wvz.1_Missense_Mutation_p.R1658W	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1658							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGTAAAACCCGAGGAGGGCAC	0.532000														36			20		0	0	0.000958276	0	0
SLC22A5	6584	broad.mit.edu	37	5	131726460	131726460	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:131726460C>T	uc003kwx.4	+	7	1467	c.1203C>T	c.(1201-1203)ttC>ttT	p.F401F	SLC22A5_uc003kww.4_Silent_p.F377F|SLC22A5_uc010jdr.1_Intron	NM_003060	NP_003051	O76082	S22A5_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.	377					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|PDZ domain binding|carnitine transporter activity|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TGAACTGCTTCCTTTCAGCGA	0.507000														54			10		0	0	0.000978159	0	0
CYLD	1540	broad.mit.edu	37	16	50785695	50785695	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:50785695C>T	uc021tib.1	+	1	808	c.685C>T	c.(685-687)Cct>Tct	p.P229S	CYLD_uc002egn.1_Missense_Mutation_p.P229S|CYLD_uc002ego.3_Missense_Mutation_p.P229S|CYLD_uc010cbs.1_Missense_Mutation_p.P229S|CYLD_uc002egp.1_Missense_Mutation_p.P229S|CYLD_uc002egq.1_Missense_Mutation_p.P229S|CYLD_uc002egr.1_Missense_Mutation_p.P229S|CYLD_uc002egs.1_Missense_Mutation_p.P229S	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.	229	Interaction with TRIP.				Wnt receptor signaling pathway|cell cycle|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				CGAACTTCCTCCTTTGGAAAT	0.413000			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis					14			6		0	0	0.00116845	0	0
NLRP14	338323	broad.mit.edu	37	11	7063651	7063651	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:7063651G>A	uc001mfb.1	+	3	717	c.394G>A	c.(394-396)Gaa>Aaa	p.E132K		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	132					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)		TAGAATAAAGGAAAAATTTTG	0.338000														56			16		0	0	0.00121646	0	0
ABLIM3	22885	broad.mit.edu	37	5	148619370	148619370	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:148619370G>A	uc003lpy.2	+	12	1374	c.1123G>A	c.(1123-1125)Ggg>Agg	p.G375R	ABLIM3_uc003lpz.1_Missense_Mutation_p.G375R|ABLIM3_uc003lqa.1_Missense_Mutation_p.G321R|ABLIM3_uc003lqb.3_Missense_Mutation_p.G313R|ABLIM3_uc003lqc.1_Missense_Mutation_p.G375R|ABLIM3_uc003lqd.1_Missense_Mutation_p.G313R|ABLIM3_uc003lqe.1_Missense_Mutation_p.G313R|ABLIM3_uc003lqf.3_Missense_Mutation_p.G313R	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	375					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAGCCCGGGGTACATAGA	0.632000														24			6		0	0	0.00116845	0	0
SLCO1B1	10599	broad.mit.edu	37	12	21358869	21358869	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:21358869G>A	uc001req.4	+	10	1503	c.1399G>A	c.(1399-1401)Gaa>Aaa	p.E467K		NM_006446	NP_006437	Q9Y6L6	SO1B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B1 (SLCO1B1), mRNA.	467	Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CAATTGTGATGAAAGTCAATG	0.363000														58			10		0	0	0.000442599	0	0
EPYC	1833	broad.mit.edu	37	12	91363844	91363844	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:91363844T>A	uc001tbk.3	-	5	868	c.775A>T	c.(775-777)Aat>Tat	p.N259Y		NM_004950	NP_004941	Q99645	EPYC_HUMAN	Homo sapiens epiphycan (EPYC), mRNA.	259					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						GCTCGTAGATTTTCTGGGAGT	0.473000														62			18		0	0	0.00121646	0	0
SKOR1	390598	broad.mit.edu	37	15	68120257	68120257	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:68120257C>T	uc002aqy.1	+	2	1959	c.1959C>T	c.(1957-1959)ccC>ccT	p.P653P		NM_001031807	NP_001026977	P84550	SKOR1_HUMAN	Homo sapiens SKI family transcriptional corepressor 1 (SKOR1), mRNA.	697					negative regulation of BMP signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|dendrite|neuronal cell body|nucleus	SMAD binding|nucleotide binding|transcription repressor activity			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						CCACTGGACCCCCTTCCGCCA	0.756000														4			4		0	0	0.000602214	0	0
FTO	79068	broad.mit.edu	37	16	53859927	53859927	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:53859927C>T	uc002ehr.3	+	2	497	c.275C>T	c.(274-276)aCt>aTt	p.T92I	FTO_uc010vha.2_Intron	NM_001080432	NP_001073901	Q9C0B1	FTO_HUMAN	Homo sapiens fat mass and obesity associated (FTO), mRNA.	92	Fe2OG dioxygenase domain.				DNA dealkylation involved in DNA repair|RNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.L91L(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GATCTGCTCACTCCGGTATCT	0.502000														53			6		0	0	0.000157383	0	0
EPB41L3	23136	broad.mit.edu	37	18	5423386	5423386	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:5423386A>G	uc002kmt.1	-	10	1416	c.1330T>C	c.(1330-1332)Ttg>Ctg	p.L444L	EPB41L3_uc010wzh.1_Silent_p.L444L|EPB41L3_uc002kmu.1_Silent_p.L444L|EPB41L3_uc010dkq.1_Silent_p.L335L|EPB41L3_uc010dkr.2_Silent_p.L5L	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	444	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCTCCATCCAAGCTGCGAGAC	0.468000														27			7		0	0	0.000274275	0	0
TTN	7273	broad.mit.edu	37	2	179576002	179576002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179576002C>T	uc021vsy.1	-	93	24454	c.24229G>A	c.(24229-24231)Gat>Aat	p.D8077N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.D4738N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9004	Ig-like 63.						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)			ATGGCACAATCAAAAACAACT	0.383000														75			16		0	0	0.000308642	0	0
RAC1	5879	broad.mit.edu	37	7	6426892	6426892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:6426892C>T	uc003spx.3	+	1	326	c.85C>T	c.(85-87)Cct>Tct	p.P29S	RAC1_uc003spw.3_Missense_Mutation_p.P29S|RAC1_uc021zzg.1_5'UTR	NM_006908	NP_008839	P63000	RAC1_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA.	29					T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	p.P29S(2)		cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	CAATGCATTTCCTGGAGAATA	0.353000														172			29		0	0	0.0024448	0	0
ZNF195	7748	broad.mit.edu	37	11	3381464	3381464	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:3381464G>A	uc001lxt.3	-	5	956	c.774C>T	c.(772-774)ttC>ttT	p.F258F	ZNF195_uc010qxr.2_Silent_p.F239F|ZNF195_uc009ydz.3_Silent_p.F213F|ZNF195_uc001lxu.3_Silent_p.F190F|ZNF195_uc001lxv.3_Silent_p.F235F|ZNF195_uc021qck.1_Silent_p.F190F|ZNF195_uc001lxs.3_Silent_p.F186F	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA.	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		GTTCAGTTAGGAATGAGAGCA	0.338000														60			16		0	0	0.000308642	0	0
PLCB1	23236	broad.mit.edu	37	20	8130986	8130986	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:8130986G>A	uc002wnb.3	+	1	148	c.145G>A	c.(145-147)Gga>Aga	p.G49R	PLCB1_uc010zrb.1_5'UTR|PLCB1_uc010gbv.1_Missense_Mutation_p.G49R|PLCB1_uc002wmz.1_Missense_Mutation_p.G49R|PLCB1_uc002wna.3_Missense_Mutation_p.G49R	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	49					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGACCCTCAGGGATTTTTCTT	0.313000														45			17		0	0	0.000958276	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52002912	52002912	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:52002912C>T	uc002pwx.1	-	2	923	c.867G>A	c.(865-867)agG>agA	p.R289R	SIGLEC12_uc002pww.1_Silent_p.R171R|SIGLEC12_uc010eoy.1_Silent_p.R16R	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	289	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding	p.R289M(1)		NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		AGGTCAGGTTCCTGGGGTGGC	0.637000														17			8		0	0	0.000442599	0	0
CILP2	148113	broad.mit.edu	37	19	19655943	19655943	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:19655943C>T	uc002nmw.4	+	7	2692	c.2607C>T	c.(2605-2607)ctC>ctT	p.L869L	CILP2_uc002nmv.4_Silent_p.L863L	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	863						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GCATCAACCTCGCCAAGCCCA	0.697000														10			4		0	0	0.000602214	0	0
DNAJB2	3300	broad.mit.edu	37	2	220147598	220147598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:220147598C>T	uc002vkx.1	+	5	629	c.392C>T	c.(391-393)tCc>tTc	p.S131F	DNAJB2_uc002vkw.1_Missense_Mutation_p.S131F|DNAJB2_uc010zlb.1_5'UTR	NM_006736	NP_006727	P25686	DNJB2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 2 (DNAJB2), transcript variant 2, mRNA.	131					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	Hsp70 protein binding|heat shock protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACCGGGGTTCCCGACACTCA	0.532000														56			15		0	0	0.00074312	0	0
ST6GALNAC6	30815	broad.mit.edu	37	9	130656867	130656867	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:130656867C>T	uc004bsp.1	-	3	340	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	ST6GALNAC6_uc004bsn.1_Missense_Mutation_p.R40Q|ST6GALNAC6_uc011man.1_Missense_Mutation_p.G10R|ST6GALNAC6_uc004bso.1_Missense_Mutation_p.R74Q|ST6GALNAC6_uc004bsq.1_Missense_Mutation_p.R40Q|ST6GALNAC6_uc004bsr.2_Missense_Mutation_p.R40Q|ST6GALNAC6_uc010mxp.1_Non-coding_Transcript			Q969X2	SIA7F_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 (ST6GALNAC6), mRNA.	74					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GCTACGGCCCCGCAGGGAGCC	0.577000														27			21		0	0	0.00229938	0	0
HERC2	8924	broad.mit.edu	37	15	28358367	28358367	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:28358367G>A	uc001zbj.3	-	91	14188	c.14082C>T	c.(14080-14082)atC>atT	p.I4694I	HERC2_uc001zbi.3_Silent_p.I383I	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	4694	HECT.				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)		CGGAAGGCTCGATGCCTTTAT	0.602000														24			5		0	0	0.000602214	0	0
SSRP1	6749	broad.mit.edu	37	11	57100164	57100164	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:57100164G>A	uc001njt.3	-	5	970	c.703C>T	c.(703-705)Ccc>Tcc	p.P235S	SSRP1_uc010rjq.1_Missense_Mutation_p.P235S	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA.	235					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						GTGGTGTAGGGGATCTTGTAG	0.522000														20			6		0	0	0.00116845	0	0
MAGEB6	158809	broad.mit.edu	37	X	26212144	26212144	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:26212144C>T	uc022buc.1	+	0	181	c.181C>T	c.(181-183)Cct>Tct	p.P61S	MAGEB6_uc004dbr.3_Missense_Mutation_p.P61S	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	61	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGCCTCCATTCCTCAGGAGTC	0.532000														19			5		0	0	0.000602214	0	0
OR51B6	390058	broad.mit.edu	37	11	5373593	5373593	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5373593A>G	uc010qzb.2	+	0	856	c.856A>G	c.(856-858)Aac>Gac	p.N286D	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCTTTTATGAACCCATTTAT	0.388000														40			20		0	0	0.00121646	0	0
SCAPER	49855	broad.mit.edu	37	15	77059417	77059417	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:77059417C>A	uc002bby.3	-	9	1320	c.1261G>T	c.(1261-1263)Gtc>Ttc	p.V421F	SCAPER_uc002bbx.3_Missense_Mutation_p.V175F|SCAPER_uc002bbz.1_Missense_Mutation_p.V292F|SCAPER_uc002bca.1_Missense_Mutation_p.V286F|SCAPER_uc002bcb.1_Missense_Mutation_p.V427F|SCAPER_uc002bcc.1_Missense_Mutation_p.V421F	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	420	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TTAGCAAGGACTTCTGCCATG	0.338000														16			11		3.07112e-06	1.03256e-05	0.000978159	1	0
ABCC11	85320	broad.mit.edu	37	16	48245042	48245042	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:48245042G>A	uc002eff.1	-	9	1775	c.1425C>T	c.(1423-1425)gtC>gtT	p.V475V	ABCC11_uc002efg.1_Silent_p.V475V|ABCC11_uc002efh.1_Silent_p.V475V|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	475						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CCTCCTCAAAGACCAGAGCTT	0.522000														66			22		0	0	0.00047179	0	0
OR10G8	219869	broad.mit.edu	37	11	123901121	123901121	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:123901121G>A	uc001pzp.1	+	0	792	c.792G>A	c.(790-792)agG>agA	p.R264R		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CAGGCTCCAGGAAAGCTGTGG	0.537000														39			6		0	0	0.000157383	0	0
P2RY2	5029	broad.mit.edu	37	11	72945942	72945942	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:72945942C>T	uc021qna.1	+	0	738	c.738C>T	c.(736-738)acC>acT	p.T246T	P2RY2_uc001otk.3_Silent_p.T246T|P2RY2_uc001otj.3_Silent_p.T246T|P2RY2_uc001otl.3_Silent_p.T246T	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	246					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCGTGCGCACCATCGCCGTGG	0.637000														31			5		0	0	0.000157383	0	0
FER1L6	654463	broad.mit.edu	37	8	124992978	124992978	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:124992978G>A	uc003yqw.3	+	10	1543	c.1337G>A	c.(1336-1338)gGa>gAa	p.G446E		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	446						integral to membrane		p.D445N(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ACTGAAGATGGAAAATCCCAA	0.468000											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		51			11		0	0	0.00185496	0	0
MUC16	94025	broad.mit.edu	37	19	9062188	9062188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9062188C>T	uc002mkp.3	-	2	25462	c.25258G>A	c.(25258-25260)Gag>Aag	p.E8420K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8422	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						CTGCTGGTCTCCCTCAATCCA	0.517000														14			14		0	0	0.00185496	0	0
GDNF	2668	broad.mit.edu	37	5	37816136	37816136	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:37816136C>T	uc011cpi.2	-	2	453	c.253G>A	c.(253-255)Gtg>Atg	p.V85M	GDNF_uc011cpd.2_Missense_Mutation_p.V33M|GDNF_uc011cpe.2_Missense_Mutation_p.V59M|GDNF_uc011cpf.2_Missense_Mutation_p.V59M|GDNF_uc011cpg.2_Missense_Mutation_p.V102M|GDNF_uc011cph.2_Missense_Mutation_p.V76M	NM_000514	NP_000505	P39905	GDNF_HUMAN	Homo sapiens glial cell derived neurotrophic factor (GDNF), transcript variant 1, mRNA.	85					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					CTAGGAAGCACTGCCATTTGT	0.478000														76			31		0	0	0.000692331	0	0
SH3GL3	6457	broad.mit.edu	37	15	84286846	84286846	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:84286846C>T	uc002bjw.3	+	8	1046	c.851C>T	c.(850-852)cCc>cTc	p.P284L	SH3GL3_uc002bjx.3_Missense_Mutation_p.P215L|SH3GL3_uc002bju.3_Missense_Mutation_p.P292L|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	284					central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TCTAACATTCCCATGGACCAG	0.413000														51			7		0	0	0.000157383	0	0
ANO6	196527	broad.mit.edu	37	12	45771870	45771870	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:45771870T>C	uc010slf.2	+	10	1537	c.1202T>C	c.(1201-1203)gTc>gCc	p.V401A	ANO6_uc001roo.3_Missense_Mutation_p.V380A|ANO6_uc010sld.1_Missense_Mutation_p.V380A|ANO6_uc010sle.1_Missense_Mutation_p.V380A|ANO6_uc010slg.2_Missense_Mutation_p.V362A	NM_001204803	NP_001191732	Q4KMQ2	ANO6_HUMAN	Homo sapiens anoctamin 6 (ANO6), transcript variant 5, mRNA.	380					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GGAACCCTGGTCTTTGCAGTA	0.313000														97			28		0	0	0.0024448	0	0
PCDH15	65217	broad.mit.edu	37	10	55849813	55849813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:55849813C>T	uc010qhy.1	-	16	2338	c.1943G>A	c.(1942-1944)cGa>cAa	p.R648Q	PCDH15_uc010qhq.2_Missense_Mutation_p.R648Q|PCDH15_uc010qhr.2_Missense_Mutation_p.R643Q|PCDH15_uc021pqv.1_Missense_Mutation_p.R643Q|PCDH15_uc021pqw.1_Missense_Mutation_p.R655Q|PCDH15_uc010qht.2_Missense_Mutation_p.R650Q|PCDH15_uc021pqx.1_Missense_Mutation_p.R643Q|PCDH15_uc001jjv.1_Missense_Mutation_p.R621Q|PCDH15_uc021pqy.1_Missense_Mutation_p.R643Q|PCDH15_uc021pqz.1_Missense_Mutation_p.R621Q|PCDH15_uc010qhv.1_Missense_Mutation_p.R643Q|PCDH15_uc010qhw.1_Missense_Mutation_p.R606Q|PCDH15_uc010qhx.1_Intron|PCDH15_uc010qhz.1_Missense_Mutation_p.R643Q|PCDH15_uc010qia.1_Missense_Mutation_p.R621Q|PCDH15_uc001jju.1_Missense_Mutation_p.R643Q|PCDH15_uc010qib.1_Missense_Mutation_p.R621Q|PCDH15_uc001jjw.3_Missense_Mutation_p.R643Q	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	643	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTCTCCCTCTCGATCAGTTGC	0.333000										HNSCC(58;0.16)				28			7		0	0	0.000274275	0	0
AIDA	64853	broad.mit.edu	37	1	222860275	222860275	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:222860275G>A	uc001hnn.3	-	5	662	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	AIDA_uc001hno.3_Non-coding_Transcript|AIDA_uc010pus.2_Missense_Mutation_p.P129S	NM_022831	NP_073742	Q96BJ3	AIDA_HUMAN	Homo sapiens axin interactor, dorsalization associated (AIDA), mRNA.	153					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity					kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						TACCTACCGGGAACTCTAGCA	0.413000														138			33		0	0	0.00111076	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150439344	150439344	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:150439344G>A	uc022apw.1	+	5	869	c.729G>A	c.(727-729)ggG>ggA	p.G243G	GIMAP1-GIMAP5_uc003whr.2_Silent_p.G39G	NM_001199577	NP_001186506			Homo sapiens GIMAP1-GIMAP5 readthrough (GIMAP1-GIMAP5), mRNA.																		CAGGCTGCGGGAAAAGTGCCA	0.502000														58			11		0	0	0.000673444	0	0
TCRB	0	broad.mit.edu	37	7	142099675	142099675	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142099675C>T	uc003vyz.1	-	1	127	c.127G>A	c.(127-129)Gat>Aat	p.D43N	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TCRB_uc022and.1_5'Flank|TCRB_uc022ane.1_Missense_Mutation_p.D43N					SubName: Full=Uncharacterized protein;																		GAAATTGGATCACACCTGAGA	0.488000														29			36		0	0	0.00111076	0	0
CYP2C19	1557	broad.mit.edu	37	10	96602762	96602762	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:96602762G>A	uc010qnz.2	+	6	1130	c.1130G>A	c.(1129-1131)aGa>aAa	p.R377K	CYP2C19_uc010qny.2_Missense_Mutation_p.R355K	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	377					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)	GTTAAATTCAGAAACTACCTC	0.468000														37			11		0	0	0.00244969	0	0
SLAMF1	6504	broad.mit.edu	37	1	160607057	160607057	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:160607057C>T	uc001fwl.4	-	1	685	c.339G>A	c.(337-339)gaG>gaA	p.E113E	SLAMF1_uc010pjk.2_Non-coding_Transcript|SLAMF1_uc010pjl.2_Non-coding_Transcript|SLAMF1_uc010pjm.2_Non-coding_Transcript|SLAMF1_uc001fwm.3_Silent_p.E113E	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA.	113					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCCCTCATCCTCCTTCCTGC	0.498000														62			12		0	0	0.00185496	0	0
OR14I1	401994	broad.mit.edu	37	1	248845046	248845046	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248845046G>A	uc001ieu.1	-	0	560	c.560C>T	c.(559-561)tCc>tTc	p.S187F		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						AACCTCACAGGAAACCAGGGC	0.493000														22			11		0	0	0.000673444	0	0
SH2B1	25970	broad.mit.edu	37	16	28883917	28883917	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:28883917C>T	uc002dri.3	+	9	2227	c.1788C>T	c.(1786-1788)tcC>tcT	p.S596S	NPIPL1_uc010vct.2_Intron|SH2B1_uc010vdc.2_Silent_p.S286S|SH2B1_uc002drj.3_Silent_p.S596S|SH2B1_uc002drk.3_Silent_p.S596S|SH2B1_uc002drl.3_Silent_p.S596S|SH2B1_uc010vdd.2_Silent_p.S260S|SH2B1_uc010vde.2_Silent_p.S596S|SH2B1_uc002drm.3_Silent_p.S596S	NM_001145795	NP_001139267	Q9NRF2	SH2B1_HUMAN	Homo sapiens SH2B adaptor protein 1 (SH2B1), transcript variant 1, mRNA.	596	SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GGTTCCAGTCCATTTTCGATA	0.602000														37			15		0	0	0.000958276	0	0
CORO1B	57175	broad.mit.edu	37	11	67207678	67207678	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:67207678G>A	uc001oll.2	-	8	1051	c.918C>T	c.(916-918)ttC>ttT	p.F306F	PTPRCAP_uc001oli.1_5'Flank|CORO1B_uc001olk.1_Silent_p.F306F|CORO1B_uc009yrt.1_Non-coding_Transcript	NM_001018070	NP_065174	Q9BR76	COR1B_HUMAN	Homo sapiens coronin, actin binding protein, 1B (CORO1B), transcript variant 2, mRNA.	306					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			ACGTGTTCAGGAAGTGGATGT	0.632000														23			10		0	0	0.000978159	0	0
THBS2	7058	broad.mit.edu	37	6	169632811	169632811	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:169632811C>T	uc003qwt.3	-	12	2128	c.1880G>A	c.(1879-1881)aGa>aAa	p.R627K		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	627	EGF-like 2; calcium-binding (Potential).				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CTGGTTCCCTCTGTATCGGGG	0.622000														27			7		0	0	0.00198382	0	0
OR51T1	401665	broad.mit.edu	37	11	4903171	4903171	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:4903171C>T	uc010qyp.2	+	0	123	c.123C>T	c.(121-123)ttC>ttT	p.F41F		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		CCTCAAACTTCCTCCTCACTG	0.413000														24			8		0	0	0.000274275	0	0
FLG	2312	broad.mit.edu	37	1	152285532	152285533	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152285532_152285533CC>TT	uc001ezu.1	-	2	1865_1866	c.1829_1830GG>AA	c.(1828-1830)ggg>gAA	p.G610E	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	610	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCCTGGGCCCCGATGATTG	0.569000									Ichthyosis					122			20		0	0	6.4e-05	0	0
CSPP1	79848	broad.mit.edu	37	8	68007618	68007618	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:68007618C>T	uc003xxi.3	+	7	737	c.706C>T	c.(706-708)Cct>Tct	p.P236S	CSPP1_uc003xxg.1_Missense_Mutation_p.P228S|CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.3_Missense_Mutation_p.P201S|CSPP1_uc003xxk.3_5'UTR	NM_024790	NP_079066	Q1MSJ5	CSPP1_HUMAN	Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA.	236						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			TTCAGAGGGTCCTAGAAAAGA	0.388000														138			15		0	0	0.000566183	0	0
ILDR2	387597	broad.mit.edu	37	1	166908758	166908758	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:166908758A>C	uc001gdx.2	-	3	605	c.549T>G	c.(547-549)atT>atG	p.I183M		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	183						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						TACCTGGCATAATCTCCACAG	0.408000														72			4		0	0	0.00024832	0	0
ANAPC4	29945	broad.mit.edu	37	4	25384968	25384968	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:25384968G>A	uc003gro.3	+	3	450	c.321G>A	c.(319-321)gaG>gaA	p.E107E	ANAPC4_uc003grp.3_5'UTR	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA.	107					G2/M transition of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TTTCTGTGGAGGCTCCAGTTT	0.348000														60			19		0	0	0.000958276	0	0
DNAH11	8701	broad.mit.edu	37	7	21857953	21857954	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:21857953_21857954GG>AA	uc003svc.3	+	65	10739_10740	c.10708_10709GG>AA	c.(10708-10710)gga>AAa	p.G3570K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	3570	AAA 5 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AATTAAAAAAGGAAAGTAAGTA	0.351000									Kartagener syndrome					70			9		0	0	6.4e-05	0	0
DCN	1634	broad.mit.edu	37	12	91546954	91546954	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:91546954G>A	uc001tbt.3	-	5	919	c.665C>T	c.(664-666)tCc>tTc	p.S222F	DCN_uc001tbo.3_Missense_Mutation_p.S113F|DCN_uc001tbp.3_Missense_Mutation_p.S75F|DCN_uc001tbq.3_Intron|DCN_uc001tbr.3_Intron|DCN_uc001tbu.3_Missense_Mutation_p.S222F	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	222					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TTCCGTAAGGGAAGGAGGAAG	0.353000														67			15		0	0	0.000566183	0	0
ZFP14	57677	broad.mit.edu	37	19	36832073	36832073	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:36832073G>A	uc010xtd.2	-	3	737	c.658C>T	c.(658-660)Cac>Tac	p.H220Y	ZFP14_uc010eex.2_Missense_Mutation_p.H219Y	NM_020917	NP_065968	Q9HCL3	ZFP14_HUMAN	Homo sapiens zinc finger protein 14 homolog (mouse) (ZFP14), mRNA.	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TGAAGTTTGTGATGTCGAATA	0.443000														53			13		0	0	0.00244969	0	0
GCM2	9247	broad.mit.edu	37	6	10876690	10876690	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:10876690C>T	uc003mzn.4	-	2	516	c.444G>A	c.(442-444)gcG>gcA	p.A148A	SYCP2L_uc011dim.1_Intron	NM_004752	NP_004743	O75603	GCM2_HUMAN	Homo sapiens glial cells missing homolog 2 (Drosophila) (GCM2), mRNA.	148					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GAAAAAAGATCGCGTTGCCAT	0.498000														73			7		0	0	0.000442599	0	0
CASC5	57082	broad.mit.edu	37	15	40949251	40949251	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:40949251C>T	uc010bbs.1	+	23	6735	c.6574C>T	c.(6574-6576)Cct>Tct	p.P2192S	CASC5_uc010bbt.1_Missense_Mutation_p.P2166S	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	2192	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				CenH3-containing nucleosome assembly at centromere|acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		ggatcaagctcctccttcctc	0.343000														6			9		0	0	0.000274275	0	0
MYH8	4626	broad.mit.edu	37	17	10296170	10296170	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:10296170T>G	uc002gmm.2	-	36	5536	c.5441A>C	c.(5440-5442)cAg>cCg	p.Q1814P	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1814					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTTCTGGATCTGCTTCTTCCC	0.547000									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling					64			15		0	0	0.00152264	0	0
UCP1	7350	broad.mit.edu	37	4	141483440	141483440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:141483440C>T	uc011chj.2	-	4	792	c.716G>A	c.(715-717)aGa>aAa	p.R239K	UCP1_uc011chk.2_Missense_Mutation_p.R238K	NM_021833	NP_068605	P25874	UCP1_HUMAN	Homo sapiens uncoupling protein 1 (mitochondrial, proton carrier) (UCP1), nuclear gene encoding mitochondrial protein, mRNA.	239					brown fat cell differentiation|cellular lipid metabolic process|respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|stomach(1)	16	all_hematologic(180;0.162)					ATTAATAAATCTGGTTTTTAC	0.468000														37			10		0	0	0.000442599	0	0
P2RX1	5023	broad.mit.edu	37	17	3806518	3806518	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:3806518T>C	uc002fww.3	-	6	1166	c.725A>G	c.(724-726)aAc>aGc	p.N242S		NM_002558	NP_002549	P51575	P2RX1_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 1 (P2RX1), mRNA.	242					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		GGTGCTGAAGTTCTGGCCTGA	0.582000														25			16		0	0	0.000958276	0	0
FLG2	388698	broad.mit.edu	37	1	152326459	152326459	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152326459C>T	uc001ezw.4	-	2	3876	c.3803G>A	c.(3802-3804)cGa>cAa	p.R1268Q	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1268	Ser-rich.						calcium ion binding|structural molecule activity	p.R1268*(1)		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)			GCTAGATCTTCGTCTTCTAGT	0.458000														90			33		0	0	0.00058488	0	0
SLC22A12	116085	broad.mit.edu	37	11	64368231	64368231	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:64368231G>A	uc001oam.1	+	8	2166	c.1419G>A	c.(1417-1419)caG>caA	p.Q473Q	SLC22A12_uc001oal.1_Silent_p.Q252Q|SLC22A12_uc009yps.1_Silent_p.Q439Q|SLC22A12_uc001oan.1_Silent_p.Q365Q|SLC22A12_uc009ypt.3_Silent_p.Q291Q	NM_144585	NP_700357	Q96S37	S22AC_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 12 (SLC22A12), transcript variant 1, mRNA.	473					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						GCTTGGGCCAGATGGCAGCCC	0.672000														23			11		0	0	0.000978159	0	0
DIO1	1733	broad.mit.edu	37	1	54360102	54360102	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:54360102C>T	uc021onq.1	+	0	242	c.219C>T	c.(217-219)ttC>ttT	p.F73F	DIO1_uc021onp.1_Intron|DIO1_uc009vzl.3_Silent_p.F73F|DIO1_uc001cwb.3_Silent_p.F73F|DIO1_uc021onr.1_Silent_p.F73F|DIO1_uc001cwd.3_Intron|DIO1_uc001cwe.3_Intron|DIO1_uc001cwf.3_Non-coding_Transcript|DIO1_uc001cwg.3_Non-coding_Transcript	NM_000792	NP_001034804	P49895	IOD1_HUMAN	Homo sapiens deiodinase, iodothyronine, type I (DIO1), transcript variant 1, mRNA.	73					hormone biosynthetic process|thyroid hormone generation	endoplasmic reticulum membrane|integral to membrane|plasma membrane	selenium binding|thyroxine 5'-deiodinase activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(2)|skin(1)	9						ATTTCTGGTTCGTCTTGAAGG	0.572000														41			10		0	0	0.00185496	0	0
PDPK1	5170	broad.mit.edu	37	16	2647217	2647217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:2647217C>T	uc002cqs.3	+	12	1639	c.1495C>T	c.(1495-1497)Cct>Tct	p.P499S	PDPK1_uc002cqt.3_Missense_Mutation_p.P372S|PDPK1_uc010bsn.3_Intron|PDPK1_uc002cqu.3_Missense_Mutation_p.P472S	NM_002613	NP_002604	O15530	PDPK1_HUMAN	Homo sapiens 3-phosphoinositide dependent protein kinase-1 (PDPK1), transcript variant 1, mRNA.	499	PH.				T cell costimulation|T cell receptor signaling pathway|actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	AGGTGAAATTCCTTGGTCACA	0.448000														65			27		0	0	0.001512	0	0
OR8B8	26493	broad.mit.edu	37	11	124310340	124310340	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:124310340G>A	uc010sal.2	-	0	642	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AGGAAATGAAGATGGTGACTG	0.493000														77			5		0	0	0.00198382	0	0
IL20RA	53832	broad.mit.edu	37	6	137338107	137338107	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:137338107G>A	uc003qhj.3	-	1	655	c.222C>T	c.(220-222)ttC>ttT	p.F74F	IL20RA_uc011edl.2_Silent_p.F25F|IL20RA_uc003qhk.3_Missense_Mutation_p.S23L|IL20RA_uc010kgy.1_Non-coding_Transcript	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	74	Fibronectin type-III 1.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		AAACTTACATGAAATACTGCA	0.373000														42			16		0	0	0.00074312	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65210244	65210244	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:65210244G>A	uc001xhp.2	+	16	3885	c.3846G>A	c.(3844-3846)gaG>gaA	p.E1282E	PLEKHG3_uc001xhn.1_Silent_p.E1105E|PLEKHG3_uc001xho.1_Silent_p.E1161E|PLEKHG3_uc010aqh.1_Silent_p.E703E|PLEKHG3_uc001xhq.1_Silent_p.E666E	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	1161					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGCTGGAGGAGAGCAGTGGCC	0.637000														13			6		0	0	0.00116845	0	0
LCE3B	353143	broad.mit.edu	37	1	152586388	152586388	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152586388C>T	uc010pds.2	+	0	102	c.102C>T	c.(100-102)tcC>tcT	p.S34S		NM_178433	NP_848520	Q5TA77	LCE3B_HUMAN	Homo sapiens late cornified envelope 3B (LCE3B), mRNA.	34	Cys-rich.				keratinization					large_intestine(1)|lung(2)|prostate(1)	4	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		CTCCAGCCTCCTCCTGCTGTG	0.667000														32			9		0	0	0.000442599	0	0
FLT4	2324	broad.mit.edu	37	5	180040032	180040032	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:180040032G>A	uc003mlz.4	-	24	3489	c.3410C>T	c.(3409-3411)cCg>cTg	p.P1137L	FLT4_uc003mma.4_Missense_Mutation_p.P1137L	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1137	Protein kinase.		P -> S (in juvenile hemangioma).		positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGCCAGCTCCGGGGCCCTCAT	0.657000														44			10		0	0	0.000978159	0	0
FRMPD4	9758	broad.mit.edu	37	X	12736796	12736796	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:12736796G>A	uc004cuz.2	+	15	4357	c.3851G>A	c.(3850-3852)gGg>gAg	p.G1284E	FRMPD4_uc011mij.2_Missense_Mutation_p.G1276E	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	1284					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CAGACAGAAGGGATGTGTCCA	0.547000														62			14		0	0	0.000308642	0	0
BPIFB6	128859	broad.mit.edu	37	20	31631162	31631162	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:31631162G>A	uc010zuc.2	+	13	1318	c.1318G>A	c.(1318-1320)Gac>Aac	p.D440N	BPIFB6_uc010zud.2_Missense_Mutation_p.D379N	NM_174897	NP_777557	Q8NFQ5	BPIL3_HUMAN	Homo sapiens BPI fold containing family B, member 6 (BPIFB6), mRNA.	440						extracellular region	lipid binding										GGCTGAGCTGGACATAGTAGA	0.507000														108			21		0	0	0.00278032	0	0
BEND2	139105	broad.mit.edu	37	X	18213513	18213513	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:18213513C>T	uc004cyj.4	-	6	1237	c.1083G>A	c.(1081-1083)gtG>gtA	p.V361V	BEND2_uc010nfb.2_Intron	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	361										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AGTTATTTTCCACGTTGGTTT	0.373000														35			12		0	0	0.00136819	0	0
TRHDE	29953	broad.mit.edu	37	12	73012738	73012738	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:73012738C>T	uc001sxa.3	+	12	2284	c.2254C>T	c.(2254-2256)Ctt>Ttt	p.L752F		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	752					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GAAGGATTTTCTTCCTTGGCA	0.368000														35			5		0	0	0.000157383	0	0
ATP8A1	10396	broad.mit.edu	37	4	42445675	42445675	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:42445675C>T	uc003gwr.2	-	32	3262	c.3030G>A	c.(3028-3030)gcG>gcA	p.A1010A	ATP8A1_uc003gwq.2_Silent_p.A236A|ATP8A1_uc003gws.2_Silent_p.A995A	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	1010					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.A1010V(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TCCCCCATATCGCTATGTGGC	0.438000														26			5		0	0	0.00198382	0	0
SORCS3	22986	broad.mit.edu	37	10	106961007	106961007	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:106961007G>A	uc001kyi.1	+	15	2484	c.2257G>A	c.(2257-2259)Gag>Aag	p.E753K	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	753						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)		TTGGGACTTCGAGTGGTGAGT	0.512000														37			11		0	0	0.000673444	0	0
UGT2B4	7363	broad.mit.edu	37	4	70361013	70361013	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:70361013G>A	uc003hek.4	-	0	614	c.567C>T	c.(565-567)ttC>ttT	p.F189F	UGT2B4_uc011cap.2_Silent_p.F53F|UGT2B4_uc003hel.4_Silent_p.F189F	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	189					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AGGAAGGAGGGAACAGAAGTC	0.413000														19			6		0	0	0.000274275	0	0
ISPD	729920	broad.mit.edu	37	7	16255735	16255735	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:16255735C>T	uc010ktx.2	-	8	1207	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	ISPD_uc010kty.2_Missense_Mutation_p.E353K|LOC100506025_uc003stf.3_Intron|LOC100506025_uc022aae.1_Intron	NM_001101426	NP_001094896	A4D126	ISPD_HUMAN	Homo sapiens isoprenoid synthase domain containing (ISPD), transcript variant 1, mRNA.	403					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						ATATTTCTTTCTTTTACTTCC	0.313000										Multiple Myeloma(15;0.18)				94			13		0	0	0.00244969	0	0
FLT1	2321	broad.mit.edu	37	13	29005400	29005400	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:29005400G>A	uc001usb.3	-	6	1146	c.861C>T	c.(859-861)tcC>tcT	p.S287S	FLT1_uc010aar.1_Silent_p.S287S|FLT1_uc001usc.3_Silent_p.S287S|FLT1_uc010tdp.1_Silent_p.S287S	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	287	Ig-like C2-type 3.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.S287F(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TGTTGGCATGGGAATTGCTTT	0.363000														33			10		0	0	0.000673444	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64483978	64483978	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:64483978G>A	uc003jtp.3	-	21	3589	c.2775C>T	c.(2773-2775)ctC>ctT	p.L925L	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.	925	TSP type-1 3.				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)		TCCTGATGCAGAGCACTGCCC	0.512000														49			6		0	0	0.00198382	0	0
STYXL1	51657	broad.mit.edu	37	7	75634642	75634642	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:75634642G>A	uc003uel.3	-	5	877	c.534C>T	c.(532-534)gaC>gaT	p.D178D	STYXL1_uc003uef.3_5'UTR|STYXL1_uc011kgg.2_Silent_p.D30D|STYXL1_uc003ueh.3_Silent_p.D40D|STYXL1_uc011kgf.2_Silent_p.D40D|STYXL1_uc003uek.4_Silent_p.D82D|STYXL1_uc003uem.3_Silent_p.D178D|STYXL1_uc010ldg.2_Non-coding_Transcript|STYXL1_uc010ldh.2_Silent_p.D178D|STYXL1_uc003uen.1_Silent_p.D178D	NM_016086	NP_057170	Q9Y6J8	STYL1_HUMAN	Homo sapiens serine/threonine/tyrosine interacting-like 1 (STYXL1), mRNA.	178	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						GAATCTTGGGGTCACAGGCTT	0.438000														93			13		0	0	0.000308642	0	0
MS4A8B	83661	broad.mit.edu	37	11	60470892	60470892	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:60470892C>T	uc001npv.3	+	2	464	c.261C>T	c.(259-261)ggC>ggT	p.G87G	MS4A8B_uc009yne.1_Silent_p.G87G	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), mRNA.	87						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TCGGCCTCGGCTCCATCATGG	0.552000														31			19		0	0	0.000958276	0	0
PHF23	79142	broad.mit.edu	37	17	7139776	7139776	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7139776G>A	uc002gfa.3	-	3	697	c.470C>T	c.(469-471)aCc>aTc	p.T157I	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Missense_Mutation_p.T90I|PHF23_uc010cma.3_Missense_Mutation_p.T27I	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	Homo sapiens PHD finger protein 23 (PHF23), mRNA.	157							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GGGCCGGGAGGTATGTGTCAG	0.572000														38			10		0	0	0.000673444	0	0
MXRA5	25878	broad.mit.edu	37	X	3241997	3241997	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:3241997T>G	uc004crg.4	-	4	1886	c.1729A>C	c.(1729-1731)Act>Cct	p.T577P		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	577	Ig-like C2-type 2.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCTGGCTGAGTGGAGGGAGAC	0.522000														6			3		0	0	6.4e-05	0	0
EGFLAM	133584	broad.mit.edu	37	5	38451442	38451442	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:38451442T>C	uc003jlc.2	+	19	2939	c.2593T>C	c.(2593-2595)Ttc>Ctc	p.F865L	EGFLAM_uc003jlb.2_Missense_Mutation_p.F857L|EGFLAM_uc003jle.2_Missense_Mutation_p.F623L|EGFLAM_uc003jlf.2_Missense_Mutation_p.F223L|EGFLAM_uc003jlg.2_5'UTR	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	865	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATCAAATGTGTTCATGAGGTT	0.473000														85			16		0	0	0.000958276	0	0
COL11A1	1301	broad.mit.edu	37	1	103488487	103488487	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:103488487C>T	uc001dum.3	-	7	1410	c.1092G>A	c.(1090-1092)agG>agA	p.R364R	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Silent_p.R352R|COL11A1_uc001dun.3_Silent_p.R313R|COL11A1_uc009weh.3_Intron	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	352	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CAGAATTTTTCCTCTGGGAAT	0.338000														40			15		0	0	0.000308642	0	0
GBA3	57733	broad.mit.edu	37	4	22749170	22749170	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:22749170C>T	uc003gqp.4	+	2	629	c.538C>T	c.(538-540)Cct>Tct	p.P180S	GBA3_uc010iep.3_Intron|GBA3_uc011bxo.2_Missense_Mutation_p.P181S	NM_020973	NP_066024	Q9H227	GBA3_HUMAN	Homo sapiens glucosidase, beta, acid 3 (cytosolic) (GBA3), transcript variant 1, mRNA.	180					glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AGGTATGTTTCCTCCGGGTAT	0.438000														65			20		0	0	0.00188189	0	0
CCBL1	883	broad.mit.edu	37	9	131598112	131598112	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:131598112C>T	uc004bwh.3	-	8	986	c.801G>A	c.(799-801)aaG>aaA	p.K267K	CCBL1_uc004bwg.3_Non-coding_Transcript|CCBL1_uc010myn.3_Silent_p.K267K|CCBL1_uc004bwj.3_Silent_p.K217K|CCBL1_uc004bwi.3_Non-coding_Transcript|CCBL1_uc011mbl.2_Silent_p.K361K	NM_004059	NP_004050	Q16773	KAT1_HUMAN	Homo sapiens cysteine conjugate-beta lyase, cytoplasmic (CCBL1), transcript variant 1, mRNA.	267					L-phenylalanine catabolic process|kynurenine metabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	TCCGCAGGTGCTTCATGATGT	0.622000														8			7		0	0	0.000442599	0	0
STYK1	55359	broad.mit.edu	37	12	10783869	10783869	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:10783869C>T	uc001qys.2	-	4	747	c.226G>A	c.(226-228)Gaa>Aaa	p.E76K		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	76						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						TGTCCTGCTTCCCAGCTTAGG	0.557000										HNSCC(73;0.22)				34			6		0	0	0.00116845	0	0
SLC44A5	204962	broad.mit.edu	37	1	75693468	75693468	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:75693468C>T	uc010oqz.1	-	11	1111	c.1045G>A	c.(1045-1047)Ggg>Agg	p.G349R	SLC44A5_uc001dgt.2_Missense_Mutation_p.G310R|SLC44A5_uc001dgs.2_Missense_Mutation_p.G268R|SLC44A5_uc001dgr.2_Missense_Mutation_p.G268R|SLC44A5_uc001dgu.3_Missense_Mutation_p.G310R|SLC44A5_uc010ora.2_Missense_Mutation_p.G304R|SLC44A5_uc010orb.2_Missense_Mutation_p.G180R	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	310						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GTCTGAATCCCGATGTCATAG	0.333000														13			12		0	0	0.000978159	0	0
DCHS2	54798	broad.mit.edu	37	4	155242155	155242155	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:155242155C>T	uc003inw.2	-	13	3031	c.3031G>A	c.(3031-3033)Gaa>Aaa	p.E1011K		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1011	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TAATCAAGTTCCTTAGAAAGA	0.363000														46			20		0	0	0.00229938	0	0
OR6B1	135946	broad.mit.edu	37	7	143701967	143701967	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:143701967G>A	uc003wdt.1	+	0	878	c.878G>A	c.(877-879)cGa>cAa	p.R293Q		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293Q(2)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					CTAAGAAACCGAGAGGTCAAG	0.433000														52			10		0	0	0.000978159	0	0
LPL	4023	broad.mit.edu	37	8	19805727	19805727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:19805727C>T	uc003wzk.4	+	1	495	c.125C>T	c.(124-126)gCc>gTc	p.A42V		NM_000237	NP_000228	P06858	LIPL_HUMAN	Homo sapiens lipoprotein lipase (LPL), mRNA.	42					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	AGTAAATTTGCCCTAAGGACC	0.438000														57			6		0	0	0.000157383	0	0
PIGR	5284	broad.mit.edu	37	1	207110677	207110677	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:207110677G>A	uc001hez.3	-	3	992	c.808C>T	c.(808-810)Ctg>Ttg	p.L270L	PIGR_uc009xbz.3_Silent_p.L270L	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	270	Ig-like V-type 3.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGTCGGCACAGAAATTTGGCC	0.602000														31			5		0	0	0.000602214	0	0
MAGEC1	9947	broad.mit.edu	37	X	140996618	140996618	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:140996618G>A	uc004fbt.3	+	3	3752	c.3428G>A	c.(3427-3429)tGa>tAa	p.*1143*	MAGEC1_uc010nsl.2_Silent_p.*210*|MAGEC1_uc022cfi.1_Silent_p.*802*	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	0							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTCTGAGTGAAGTCTAGGG	0.527000										HNSCC(15;0.026)				23			5		0	0	0.000602214	0	0
LY75-CD302	100526664	broad.mit.edu	37	2	160673493	160673493	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:160673493C>T	uc002ubb.4	-	29	4278	c.4204G>A	c.(4204-4206)Gaa>Aaa	p.E1402K	LY75-CD302_uc010fos.3_Missense_Mutation_p.E1402K|LY75-CD302_uc002ubc.4_Missense_Mutation_p.E1402K	NM_001198759	NP_001185688	O60449	LY75_HUMAN	Homo sapiens LY75-CD302 readthrough (LY75-CD302), transcript variant 1, mRNA.	1402	C-type lectin 9.				endocytosis|immune response|inflammatory response	integral to plasma membrane	receptor activity|sugar binding										ATACCATCTTCATATGGCATA	0.313000														53			31		0	0	0.000692331	0	0
INPP4A	3631	broad.mit.edu	37	2	99169312	99169312	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:99169312C>T	uc002syy.3	+	14	1635	c.1242C>T	c.(1240-1242)atC>atT	p.I414I	INPP4A_uc010yvj.1_Silent_p.I414I|INPP4A_uc010yvk.2_Silent_p.I414I|INPP4A_uc002syx.3_Silent_p.I409I|INPP4A_uc010fik.3_Intron	NM_001134224	NP_001127696	Q96PE3	INP4A_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type I, 107kDa (INPP4A), transcript variant d, mRNA.	414					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CCAAGGAGATCATCGCCCAGA	0.512000														13			6		0	0	0.000157383	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72137886	72137886	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:72137886C>T	uc001xms.3	+	7	2667	c.2306C>T	c.(2305-2307)cCt>cTt	p.P769L	SIPA1L1_uc001xmt.3_Missense_Mutation_p.P769L|SIPA1L1_uc001xmu.3_Missense_Mutation_p.P769L|SIPA1L1_uc001xmv.3_Missense_Mutation_p.P769L|SIPA1L1_uc010ttm.2_Missense_Mutation_p.P244L	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	769	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCTCCCATTCCTAAAGGGGTC	0.463000														87			41		0	0	0.00285205	0	0
STAG3	10734	broad.mit.edu	37	7	99780373	99780374	+	Missense_Mutation	DNP	CG	AT	AT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:99780373_99780374CG>AT	uc003utx.1	+	3	402_403	c.247_248CG>AT	c.(247-249)cga>ATa	p.R83I	STAG3_uc010lgs.1_5'UTR|STAG3_uc011kjk.1_Missense_Mutation_p.R83I	NM_012447	NP_036579	Q9UJ98	STAG3_HUMAN	Homo sapiens stromal antigen 3 (STAG3), mRNA.	83					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding	p.R83Q(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAAAGGGTCCCGAGTGGTACAT	0.406000														384			11		0	0	6.4e-05	0	0
EPHA8	2046	broad.mit.edu	37	1	22895813	22895813	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:22895813G>A	uc001bfx.1	+	1	251	c.126G>A	c.(124-126)ggG>ggA	p.G42G	EPHA8_uc001bfw.3_Silent_p.G42G	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	42						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CCATCCACGGGGACTGGGGCT	0.587000														79			18		0	0	0.00188189	0	0
PNMAL1	55228	broad.mit.edu	37	19	46974208	46974208	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:46974208C>T	uc002peq.4	-	1	391	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	PNMAL1_uc002per.4_Missense_Mutation_p.G29S	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	Homo sapiens PNMA-like 1 (PNMAL1), transcript variant 1, mRNA.	29										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		tctgggatgcctgtgaccaac	0.552000														39			10		0	0	0.000978159	0	0
TMEM2	23670	broad.mit.edu	37	9	74360004	74360004	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:74360004G>A	uc011lsa.1	-	3	1504	c.964C>T	c.(964-966)Ctc>Ttc	p.L322F	TMEM2_uc010mos.2_Missense_Mutation_p.L322F|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	322						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CCTTGTAAGAGACTTTTAGCG	0.512000														43			8		0	0	0.000442599	0	0
DEFB119	245932	broad.mit.edu	37	20	29976964	29976964	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:29976964C>T	uc002wvu.1	-	1	251	c.131G>A	c.(130-132)cGa>cAa	p.R44Q	DEFB119_uc002wvs.3_Intron|DEFB119_uc002wvt.3_Intron	NM_153323	NP_697018	Q8N690	DB119_HUMAN	Homo sapiens defensin, beta 119 (DEFB119), transcript variant 3, mRNA.	50					defense response to bacterium	extracellular region		p.R44Q(1)		large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TTTACGATTTCGGCAGCGTAT	0.453000														65			34		0	0	0.000814825	0	0
GRIN2B	2904	broad.mit.edu	37	12	13720142	13720142	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:13720142C>T	uc001rbt.2	-	11	2594	c.2415G>A	c.(2413-2415)aaG>aaA	p.K805K		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	805					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGACCTCATTCTTCTCATTGT	0.517000														36			11		0	0	0.00244969	0	0
CTNND1	1500	broad.mit.edu	37	11	57581797	57581797	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:57581797C>T	uc001nmc.4	+	17	3224	c.2653C>T	c.(2653-2655)Cgg>Tgg	p.R885W	CTNND1_uc001nlf.2_Missense_Mutation_p.R885W|CTNND1_uc021qjk.1_Missense_Mutation_p.R879W|CTNND1_uc001nlh.1_Missense_Mutation_p.R885W|CTNND1_uc001nlj.4_Missense_Mutation_p.R825W|CTNND1_uc001nlq.4_Missense_Mutation_p.R784W|CTNND1_uc001nlr.4_Missense_Mutation_p.R825W|CTNND1_uc001nln.4_Missense_Mutation_p.R879W|CTNND1_uc001nli.4_Intron|CTNND1_uc001nlo.4_Missense_Mutation_p.R778W|CTNND1_uc001nlp.4_Intron|CTNND1_uc001nlu.4_Missense_Mutation_p.R778W|CTNND1_uc001nlt.4_Missense_Mutation_p.R778W|CTNND1_uc001nlv.4_Missense_Mutation_p.R778W|CTNND1_uc001nls.4_Intron|CTNND1_uc001nlw.4_Missense_Mutation_p.R778W|CTNND1_uc001nmf.4_Missense_Mutation_p.R885W|CTNND1_uc001nlx.4_Missense_Mutation_p.R562W|CTNND1_uc001nlz.4_Missense_Mutation_p.R562W|CTNND1_uc009ymn.3_Missense_Mutation_p.R556W|CTNND1_uc001nly.4_Missense_Mutation_p.R556W|CTNND1_uc001nmb.4_Missense_Mutation_p.R556W|CTNND1_uc001nma.4_Intron|CTNND1_uc001nmd.4_Missense_Mutation_p.R831W|CTNND1_uc001nlk.4_Missense_Mutation_p.R831W|CTNND1_uc001nme.4_Missense_Mutation_p.R879W|CTNND1_uc001nll.4_Missense_Mutation_p.R825W|CTNND1_uc001nlm.4_Missense_Mutation_p.R879W|CTNND1_uc001nmi.4_Missense_Mutation_p.R784W|CTNND1_uc001nmg.4_Missense_Mutation_p.R825W|CTNND1_uc001nmh.4_Missense_Mutation_p.R879W	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	885					Wnt receptor signaling pathway|adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GAAACCTGATCGGGAAGAAAT	0.373000														21			7		0	0	0.00198382	0	0
MUC16	94025	broad.mit.edu	37	19	9049298	9049298	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9049298G>A	uc002mkp.3	-	4	32537	c.32333C>T	c.(32332-32334)tCg>tTg	p.S10778L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10780	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S10778L(1)|p.S6411L(1)		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						TGGAATGGCCGAACTTGTCTG	0.473000														46			8		0	0	0.000442599	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37334419	37334419	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:37334419A>G	uc010ynh.2	-	16	2210	c.1653T>C	c.(1651-1653)tgT>tgC	p.C551C	EIF2AK2_uc010fab.2_Silent_p.C510C|EIF2AK2_uc010yng.2_Silent_p.C508C|EIF2AK2_uc010fac.3_Silent_p.C551C	NM_002759	NP_002750	P19525	E2AK2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 2 (EIF2AK2), transcript variant 1, mRNA.	551					evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity	p.T550I(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				AAGGGCTCTAACATGTGTGTC	0.358000														33			24		0	0	0.000720815	0	0
ETS2	2114	broad.mit.edu	37	21	40191548	40191548	+	Silent	SNP	C	T	T	rs113417859	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:40191548C>T	uc002yxf.3	+	8	1393	c.1353C>T	c.(1351-1353)ttC>ttT	p.F451F	ETS2_uc002yxg.3_Silent_p.F311F	NM_005239	NP_005230	P15036	ETS2_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 2 (avian) (ETS2), transcript variant 1, mRNA.	311					positive regulation of transcription, DNA-dependent|skeletal system development	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18		Prostate(19;6.33e-08)|all_epithelial(19;0.123)				TTCCTTCCTTCGAGAGCTTCG	0.552000														10			5		0	0	0.000602214	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114107681	114107681	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:114107681C>T	uc001vtq.1	-	0	159	c.72G>A	c.(70-72)aaG>aaA	p.K24K		NM_138430	NP_954631	Q8NDY3	ARHL1_HUMAN	Homo sapiens ADP-ribosylhydrolase like 1 (ADPRHL1), transcript variant 1, mRNA.	24					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding	p.K24K(4)		endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			TGCTGTTCTCCTTGCAGACAT	0.577000														27			8		0	0	0.000274275	0	0
GABRG2	2566	broad.mit.edu	37	5	161520953	161520953	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:161520953G>A	uc010jjc.3	+	1	585	c.227G>A	c.(226-228)gGa>gAa	p.G76E	GABRG2_uc003lyy.4_Missense_Mutation_p.G76E|GABRG2_uc003lyz.4_Missense_Mutation_p.G76E|GABRG2_uc011dej.2_5'UTR	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	76					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CTGCTGGAAGGATATGACAAT	0.373000														25			8		0	0	0.000157383	0	0
KRT3	3850	broad.mit.edu	37	12	53185594	53185594	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:53185594C>T	uc001say.3	-	5	1261	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	399	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GTCTGCAGCTCCCCCAACTGC	0.522000														13			7		0	0	0.000157383	0	0
C14orf149	112849	broad.mit.edu	37	14	59942848	59942848	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:59942848C>T	uc001xee.1	-	2	802	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K		NM_144581	NP_653182	Q96EM0	PRCM_HUMAN	Homo sapiens chromosome 14 open reading frame 149 (C14orf149), mRNA.	255							proline racemase activity			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9				OV - Ovarian serous cystadenocarcinoma(108;0.14)	L-Proline(DB00172)	GTGGTTGGTTCCTTGGTATAA	0.333000														57			21		0	0	0.000720815	0	0
TOP1MT	116447	broad.mit.edu	37	8	144391662	144391662	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:144391662C>T	uc003yxz.3	-	13	1774	c.1755G>A	c.(1753-1755)cgG>cgA	p.R585R	TOP1MT_uc011lkd.2_Silent_p.R487R|TOP1MT_uc011lke.2_Silent_p.R487R|TOP1MT_uc011lkf.2_3'UTR	NM_052963	NP_443195	Q969P6	TOP1M_HUMAN	Homo sapiens topoisomerase (DNA) I, mitochondrial (TOP1MT), nuclear gene encoding mitochondrial protein, mRNA.	585					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|chromatin DNA binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	CGAACCTCTCCCGCTGTGTTT	0.537000														76			15		0	0	0.00152264	0	0
STX4	6810	broad.mit.edu	37	16	31049834	31049834	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:31049834C>T	uc002eal.3	+	7	792	c.568C>T	c.(568-570)Ctg>Ttg	p.L190L	STX4_uc002eak.3_Silent_p.L188L|STX4_uc002eam.3_Silent_p.L112L	NM_004604	NP_004595	Q12846	STX4_HUMAN	Homo sapiens syntaxin 4 (STX4), mRNA.	190	Interaction with CENPF (By similarity).				intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						CCCCCAGATCCTGAAGGACAC	0.577000														28			7		0	0	0.000442599	0	0
SPAG17	200162	broad.mit.edu	37	1	118509305	118509305	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:118509305C>T	uc001ehk.2	-	46	6527	c.6459G>A	c.(6457-6459)aaG>aaA	p.K2153K	SPAG17_uc021osr.1_Silent_p.K663K	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	2153						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GTGCTGATCCCTTGGCCCCAT	0.438000														61			20		0	0	0.00188189	0	0
OR10X1	128367	broad.mit.edu	37	1	158549611	158549611	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158549611C>T	uc010pin.2	-	0	79	c.79G>A	c.(79-81)Gaa>Aaa	p.E27K		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E27K(2)		breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGAATGAATTCCTTCAGGATT	0.363000														90			23		0	0	0.00188189	0	0
EPB41L4B	54566	broad.mit.edu	37	9	111979238	111979238	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:111979238G>A	uc004bdz.1	-	15	1892	c.1597C>T	c.(1597-1599)Ctg>Ttg	p.L533L		NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	533						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGGACCTCAGAGGCCCCTCT	0.582000														32			13		0	0	0.00244969	0	0
COL4A6	1288	broad.mit.edu	37	X	107402885	107402885	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:107402885T>A	uc004enw.4	-	43	4725	c.4622A>T	c.(4621-4623)aAa>aTa	p.K1541I	COL4A6_uc004env.4_Missense_Mutation_p.K1540I|COL4A6_uc011msn.2_Missense_Mutation_p.K1516I|COL4A6_uc010npk.3_Missense_Mutation_p.K1483I|COL4A6_uc011msm.1_Missense_Mutation_p.K75I	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1541	Collagen IV NC1.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCAGTAAGATTTATCATTGCG	0.577000									Alport syndrome with Diffuse Leiomyomatosis					72			16		0	0	0.00074312	0	0
POM121C	100101267	broad.mit.edu	37	7	75068439	75068440	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:75068439_75068440GG>TT	uc003udk.4	-	5	1175_1176	c.290_291CC>AA	c.(289-291)ccc>cAA	p.P97Q	POM121C_uc010lde.1_Missense_Mutation_p.P339Q	NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.	339	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CAAAAGAAGCGGGGACTCCACT	0.470000														197			7		0	0	6.4e-05	0	0
NCOA1	8648	broad.mit.edu	37	2	24964782	24964782	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:24964782C>T	uc002rfk.3	+	16	3692	c.3433C>T	c.(3433-3435)Cct>Tct	p.P1145S	NCOA1_uc010eye.3_Missense_Mutation_p.P1145S|NCOA1_uc002rfi.3_Missense_Mutation_p.P994S|NCOA1_uc002rfj.3_Missense_Mutation_p.P1145S|NCOA1_uc002rfl.3_Missense_Mutation_p.P1145S|NCOA1_uc010eyf.3_Missense_Mutation_p.P38S	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	1145									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)					GAACAACCTCCCTCCCTCATC	0.527000			T	PAX3	alveolar rhadomyosarcoma									32			9		0	0	0.000673444	0	0
IFT140	9742	broad.mit.edu	37	16	1574818	1574818	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:1574818G>A	uc002cmb.3	-	22	3326	c.2964C>T	c.(2962-2964)gtC>gtT	p.V988V	IFT140_uc002clz.3_Silent_p.V601V	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	988										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				AGTGGATGCGGACCAGGGAGA	0.672000														28			7		0	0	0.00136819	0	0
PNPLA6	10908	broad.mit.edu	37	19	7601355	7601355	+	Silent	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:7601355C>G	uc010xjq.2	+	4	603	c.363C>G	c.(361-363)tcC>tcG	p.S121S	PNPLA6_uc002mgq.2_Silent_p.S73S|PNPLA6_uc010xjp.2_Silent_p.S73S|PNPLA6_uc002mgr.2_Silent_p.S73S|PNPLA6_uc002mgs.3_Silent_p.S112S	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	112					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CCACCTCCTCCCTCGTGGATA	0.552000														33			5		0	0	0.00116845	0	0
YTHDC1	91746	broad.mit.edu	37	4	69188609	69188609	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:69188609G>A	uc003hdx.3	-	10	1812	c.1459C>T	c.(1459-1461)Cag>Tag	p.Q487*	YTHDC1_uc003hdy.3_Nonsense_Mutation_p.Q469*	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	487	YTH.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						AGACAAAGCTGGGTTCCACAT	0.398000														41			6		0	0	0.00198382	0	0
COBL	23242	broad.mit.edu	37	7	51111157	51111157	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:51111157G>A	uc003tps.3	-	8	1685	c.1500C>T	c.(1498-1500)gaC>gaT	p.D500D	COBL_uc003tpr.4_Silent_p.D443D|COBL_uc011kcl.2_Silent_p.D443D|COBL_uc010kzc.3_Silent_p.D443D|COBL_uc003tpp.4_Silent_p.D229D|COBL_uc003tpq.4_Silent_p.D384D	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	443										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTCCAGCGAGGTCCTGGTCAC	0.567000														58			13		0	0	0.000308642	0	0
RABGGTA	5875	broad.mit.edu	37	14	24739638	24739638	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:24739638G>A	uc001wof.3	-	2	563	c.141C>T	c.(139-141)tcC>tcT	p.S47S	RABGGTA_uc001wog.3_Silent_p.S47S|HP08474_uc021rro.1_5'Flank	NM_004581	NP_878256	Q92696	PGTA_HUMAN	Homo sapiens Rab geranylgeranyltransferase, alpha subunit (RABGGTA), transcript variant 2, mRNA.	47					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GTTCCAGCACGGACTCATCCA	0.502000														19			7		0	0	0.000157383	0	0
NEMF	9147	broad.mit.edu	37	14	50295833	50295833	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:50295833G>A	uc010anj.1	-	12	1239	c.1171C>T	c.(1171-1173)Cct>Tct	p.P391S	NEMF_uc001wxc.3_Missense_Mutation_p.P391S|NEMF_uc010tqi.2_Missense_Mutation_p.P391S|NEMF_uc001wxe.2_Missense_Mutation_p.P349S|NEMF_uc001wxd.1_5'UTR|NEMF_uc010anq.1_Missense_Mutation_p.P162S	NM_004713	NP_004704	O60524	NEMF_HUMAN	Homo sapiens nuclear export mediator factor (NEMF), mRNA.	391						cytoplasm|nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(13)|liver(1)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	36						CTTGCAACAGGGTCTCCTTGA	0.398000														102			31		0	0	0.00283554	0	0
LYSMD3	116068	broad.mit.edu	37	5	89814933	89814934	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:89814933_89814934GG>TT	uc003kjr.3	-	2	771_772	c.623_624CC>AA	c.(622-624)ccc>cAA	p.P208Q	LYSMD3_uc010jaz.2_Intron|LYSMD3_uc003kjs.1_3'UTR	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 3 (LYSMD3), mRNA.	208					cell wall macromolecule catabolic process	integral to membrane				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		CTCCATAATAGGGGTCTTTACG	0.386000														93			6		0	0	6.4e-05	0	0
PLB1	151056	broad.mit.edu	37	2	28752259	28752259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:28752259C>T	uc002rmb.2	+	6	445	c.401C>T	c.(400-402)cCc>cTc	p.P134L	PLB1_uc010ezj.2_Missense_Mutation_p.P134L	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	134	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)					AGAGTCATACCCCACGATGGT	0.478000														34			15		0	0	0.00074312	0	0
MMP13	4322	broad.mit.edu	37	11	102822831	102822831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:102822831C>T	uc001phl.3	-	4	738	c.709G>A	c.(709-711)Gga>Aga	p.G237R		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	237					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		ATGAGTGCTCCAGGGTCCTTG	0.463000														63			12		0	0	0.000978159	0	0
TAS2R31	259290	broad.mit.edu	37	12	11183701	11183701	+	Silent	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:11183701T>A	uc001qzo.1	-	0	306	c.234A>T	c.(232-234)gtA>gtT	p.V78V	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176885	NP_795366	P59538	T2R31_HUMAN	Homo sapiens taste receptor, type 2, member 31 (TAS2R31), mRNA.	78					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						TTCTTACTTCTACACTATAAA	0.408000														95			17		0	0	0.000422831	0	0
CA5B	11238	broad.mit.edu	37	X	15794942	15794942	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:15794942T>A	uc004cxe.3	+	6	841	c.724T>A	c.(724-726)Tct>Act	p.S242T		NM_007220	NP_009151	Q9Y2D0	CAH5B_HUMAN	Homo sapiens carbonic anhydrase VB, mitochondrial (CA5B), nuclear gene encoding mitochondrial protein, mRNA.	242					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					CCTCTCCGAGTCTGTCACCTG	0.483000														58			13		0	0	0.00244969	0	0
BSN	8927	broad.mit.edu	37	3	49698253	49698253	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:49698253A>G	uc003cxe.4	+	5	9089	c.8975A>G	c.(8974-8976)aAa>aGa	p.K2992R		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2992					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCTTTGGCCAAAGACCGGGGT	0.582000														31			7		0	0	0.00198382	0	0
CD22	933	broad.mit.edu	37	19	35832700	35832701	+	Missense_Mutation	DNP	CC	AG	AG			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:35832700_35832701CC>AG	uc010edt.3	+	8	1951_1952	c.1867_1868CC>AG	c.(1867-1869)ccc>AGc	p.P623S	CD22_uc010edu.3_Missense_Mutation_p.P535S|CD22_uc010edv.3_Missense_Mutation_p.P623S|CD22_uc002nzb.4_Missense_Mutation_p.P446S|CD22_uc010xst.2_Missense_Mutation_p.P451S|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	623	Ig-like C2-type 6.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CGCCAACCCTCCCGTCTCCCAC	0.609000														12			5		0	0	6.4e-05	0	0
MARCO	8685	broad.mit.edu	37	2	119727718	119727718	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:119727718C>T	uc002tln.1	+	2	360	c.228C>T	c.(226-228)gtC>gtT	p.V76V	MARCO_uc010yyf.1_5'UTR	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	76					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			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						GGCTCCGGGTCCTGGAGATGT	0.567000														32			10		0	0	0.000978159	0	0
LEPR	3953	broad.mit.edu	37	1	66075961	66075961	+	Silent	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:66075961T>C	uc001dci.3	+	13	2366	c.1977T>C	c.(1975-1977)aaT>aaC	p.N659N	LEPR_uc001dcg.3_Silent_p.N659N|LEPR_uc001dch.3_Silent_p.N659N|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Silent_p.N659N|LEPR_uc001dcj.3_Silent_p.N659N|LEPR_uc001dck.3_Silent_p.N659N	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	659	Fibronectin type-III 3.				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)		AGGAGAAAAATGTCACTTTAC	0.274000														76			26		0	0	0.000878237	0	0
ZNF574	64763	broad.mit.edu	37	19	42584034	42584034	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:42584034C>T	uc002osk.4	+	1	1781	c.1546C>T	c.(1546-1548)Cca>Tca	p.P516S	ZNF574_uc002osm.4_Missense_Mutation_p.P426S|ZNF574_uc021uva.1_Missense_Mutation_p.P426S	NM_022752	NP_073589	Q6ZN55	ZN574_HUMAN	Homo sapiens zinc finger protein 574 (ZNF574), mRNA.	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R515H(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				AACACCAGTCCCACCAGAGGA	0.582000														32			5		0	0	0.00116845	0	0
EPHA6	285220	broad.mit.edu	37	3	97124000	97124000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:97124000C>T	uc010how.1	+	5	1656	c.1613C>T	c.(1612-1614)tCc>tTc	p.S538F		NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	443						integral to plasma membrane	ATP binding|ephrin receptor activity	p.E537K(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						TCAGCACCTTCCCTGATAGGT	0.393000														6			4		0	0	0.000602214	0	0
KIF13B	23303	broad.mit.edu	37	8	28998067	28998067	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:28998067C>T	uc003xhh.4	-	19	2461	c.2402G>A	c.(2401-2403)gGg>gAg	p.G801E	AF086219_uc003xhi.1_Non-coding_Transcript	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	801					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ATTGGCCACCCCAATGAGACT	0.413000														43			11		0	0	0.000978159	0	0
FAP	2191	broad.mit.edu	37	2	163044724	163044724	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:163044724C>T	uc002ucd.3	-	19	1977	c.1769G>A	c.(1768-1770)cGa>cAa	p.R590Q	FAP_uc010fpc.3_Missense_Mutation_p.R139Q|FAP_uc010zct.2_Missense_Mutation_p.R565Q	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	590					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ACCCAGCTTTCGATACACTGC	0.443000														41			8		0	0	0.000442599	0	0
RRP12	23223	broad.mit.edu	37	10	99126519	99126519	+	Silent	SNP	G	T	T	rs139760006		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:99126519G>T	uc001knf.3	-	26	3334	c.3195C>A	c.(3193-3195)ccC>ccA	p.P1065P	RRP12_uc001kne.3_Silent_p.P80P|RRP12_uc009xvl.3_Silent_p.P182P|RRP12_uc009xvm.3_Silent_p.P783P|RRP12_uc010qou.2_Silent_p.P1004P|RRP12_uc009xvn.3_Silent_p.P965P	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	1065	Glu-rich.					integral to membrane|nuclear membrane|nucleolus	protein binding	p.P1065P(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TGCCCTGGGCGGGctcctcct	0.672000														58			5		0.00116845	0.00390822	0.00116845	1	0
TTN	7273	broad.mit.edu	37	2	179585326	179585326	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179585326G>A	uc021vsy.1	-	76	19656	c.19431C>T	c.(19429-19431)ctC>ctT	p.L6477L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L3138L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7404	Ig-like 46.						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)			TTTCACATTGGAGAATCACAT	0.388000														12			6		0	0	0.000157383	0	0
ITGB8	3696	broad.mit.edu	37	7	20406638	20406638	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:20406638T>C	uc003suu.3	+	2	922	c.217T>C	c.(217-219)Ttc>Ctc	p.F73L	ITGB8_uc011jyh.2_5'UTR|ITGB8_uc003sut.3_Missense_Mutation_p.F73L	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	73					cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TAAACAGGATTTCATTTCAGG	0.303000														42			56		0	0	0.000781405	0	0
VPS13D	55187	broad.mit.edu	37	1	12328772	12328772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:12328772C>T	uc001atv.3	+	15	1952	c.1811C>T	c.(1810-1812)cCa>cTa	p.P604L	VPS13D_uc001atw.3_Missense_Mutation_p.P604L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	604					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCTGCAGATCCAGATGGCCCC	0.458000														172			45		0	0	0.000781405	0	0
MC2R	4158	broad.mit.edu	37	18	13884913	13884913	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:13884913G>A	uc002ksp.1	-	1	782	c.605C>T	c.(604-606)tCc>tTc	p.S202F	MC2R_uc021uhs.1_Missense_Mutation_p.S202F	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	202					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CCTGGTGTGGGATCGAGCCAG	0.572000														13			16		0	0	0.000566183	0	0
TLN2	83660	broad.mit.edu	37	15	63031708	63031708	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:63031708C>T	uc002alb.4	+	27	3849	c.3849C>T	c.(3847-3849)ttC>ttT	p.F1283F	TLN2_uc002alc.4_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1283					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TTGATGAATTCCTCGATGCTG	0.547000														40			12		0	0	0.00185496	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140768882	140768882	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140768882G>A	uc003lkc.2	+	0	1431	c.1431G>A	c.(1429-1431)ccG>ccA	p.P477P	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.	481	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCTGATCCGGACTTGGGGC	0.572000														43			19		0	0	0.00229938	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579977	140579977	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140579977C>T	uc003liy.3	+	0	630	c.630C>T	c.(628-630)ttC>ttT	p.F210F		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	210	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCTCAGTTTCATCCTCTCTG	0.493000														43			12		0	0	0.000978159	0	0
KCNJ3	3760	broad.mit.edu	37	2	155711304	155711304	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:155711304C>T	uc002tyv.1	+	2	1180	c.985C>T	c.(985-987)Cct>Tct	p.P329S	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	329					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TCGTTTTTTTCCTGTAATTTC	0.388000														30			14		0	0	0.000308642	0	0
NEB	4703	broad.mit.edu	37	2	152548448	152548448	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:152548448C>T	uc021vrb.1	-	20	2170	c.2141G>A	c.(2140-2142)gGa>gAa	p.G714E	NEB_uc002txu.3_Missense_Mutation_p.G714E|NEB_uc021vrc.1_Missense_Mutation_p.G714E|NEB_uc010fnx.3_Missense_Mutation_p.G714E|NEB_uc021vrd.1_Missense_Mutation_p.G714E|NEB_uc010fny.2_Missense_Mutation_p.G268E	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	714					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATAGCATTTTCCTTTATCTTC	0.338000														12			10		0	0	0.00136819	0	0
L1CAM	3897	broad.mit.edu	37	X	153135267	153135267	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:153135267G>A	uc004fjb.3	-	8	1222	c.1114C>T	c.(1114-1116)Cct>Tct	p.P372S	L1CAM_uc004fjc.3_Missense_Mutation_p.P372S|L1CAM_uc010nuo.3_Missense_Mutation_p.P367S|L1CAM_uc004fjd.1_Missense_Mutation_p.P186S	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	372	Ig-like C2-type 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	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)					CCCTCCACAGGGATCCCGTTG	0.662000														10			4		0	0	0.000602214	0	0
DNAH5	1767	broad.mit.edu	37	5	13944539	13944539	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:13944539C>T	uc003jfd.2	-	0	51	c.9G>A	c.(7-9)agG>agA	p.R3R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCCTCCCAATCCTAAACATTG	0.483000									Kartagener syndrome					37			5		0	0	0.00116845	0	0
SERPINB12	89777	broad.mit.edu	37	18	61233861	61233861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:61233861G>A	uc010xeo.2	+	6	895	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	SERPINB12_uc010xen.2_Missense_Mutation_p.E279K	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	279					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						AATCACCTATGAAAAAATGGT	0.448000														53			107		0	0	0.000781405	0	0
SLC2A13	114134	broad.mit.edu	37	12	40223908	40223908	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:40223908C>G	uc010skm.2	-	6	1493	c.1442G>C	c.(1441-1443)gGc>gCc	p.G481A	C12orf40_uc009zjv.1_Intron|SLC2A13_uc001rme.1_Missense_Mutation_p.G128A	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 13 (SLC2A13), mRNA.	481						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GATATACCTGCCCCAGGCTGC	0.378000										HNSCC(50;0.14)				14			4		0	0	0.000602214	0	0
INHBA	3624	broad.mit.edu	37	7	41729597	41729597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:41729597C>T	uc003thq.3	-	1	1167	c.932G>A	c.(931-933)gGc>gAc	p.G311D	INHBA_uc003thr.3_Missense_Mutation_p.G311D	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	311					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						ACACTCCAAGCCCCGCCGACG	0.567000										TSP Lung(11;0.080)				97			10		0	0	0.00185496	0	0
OR10A4	283297	broad.mit.edu	37	11	6898089	6898089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:6898089G>A	uc010rat.2	+	0	234	c.211G>A	c.(211-213)Gag>Aag	p.E71K		NM_207186	NP_997069	Q9H209	O10A4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 4 (OR10A4), mRNA.	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTCCTTCCTGGAGATAGGTTT	0.453000														58			11		0	0	0.00185496	0	0
MYBPC2	4606	broad.mit.edu	37	19	50962496	50962496	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:50962496G>A	uc002psf.2	+	22	2775	c.2724G>A	c.(2722-2724)ggG>ggA	p.G908G		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	908	Ig-like C2-type 6.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCGACTCCGGGGAGTACGAGC	0.711000														5			7		0	0	0.000673444	0	0
GTF3C1	2975	broad.mit.edu	37	16	27504020	27504020	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:27504020G>A	uc002dov.2	-	17	2931	c.2891C>T	c.(2890-2892)tCg>tTg	p.S964L	GTF3C1_uc002dou.3_Missense_Mutation_p.S964L	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	964						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTCCACCACCGAAAAAATGTA	0.562000														57			18		0	0	0.00121646	0	0
OR4C13	283092	broad.mit.edu	37	11	49974424	49974424	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:49974424C>T	uc010rhz.2	+	0	482	c.450C>T	c.(448-450)ggC>ggT	p.G150G		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						GGGTAGGAGGCTTTCTTCATG	0.453000														36			7		0	0	0.000157383	0	0
C10orf113	387638	broad.mit.edu	37	10	21435296	21435296	+	Missense_Mutation	SNP	C	T	T	rs139819724		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:21435296C>T	uc001iqm.3	-	0	193	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_Missense_Mutation_p.E48K	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN	Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.	48										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						ATGTACATTTCAGCCACACAA	0.433000														54			11		0	0	0.000308642	0	0
DNAH5	1767	broad.mit.edu	37	5	13901506	13901506	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:13901506C>A	uc003jfd.2	-	13	1949	c.1907G>T	c.(1906-1908)aGg>aTg	p.R636M		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	636	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGCTGAATCCTATGGAAGAG	0.512000									Kartagener syndrome					23			5		1.23904e-05	4.16173e-05	0.000602214	1	0
SPINT1	6692	broad.mit.edu	37	15	41146691	41146691	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:41146691A>G	uc001zna.3	+	6	1289	c.1085A>G	c.(1084-1086)gAc>gGc	p.D362G	SPINT1_uc001znb.3_Missense_Mutation_p.D346G|SPINT1_uc001znc.3_Missense_Mutation_p.D346G|SPINT1_uc010ucs.2_Missense_Mutation_p.D353G	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	362	LDL-receptor class A.					extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		AACTGCCCCGACGCCTCCGAC	0.632000														25			8		0	0	0.000157383	0	0
LRP4	4038	broad.mit.edu	37	11	46898047	46898048	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:46898047_46898048GG>AA	uc001ndn.4	-	24	3748_3749	c.3505_3506CC>TT	c.(3505-3507)ccc>TTc	p.P1169F		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1169					Wnt receptor signaling pathway|endocytosis|negative regulation of canonical Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GATGGCCCGGGGACTGTCAAGG	0.579000														30			9		0	0	6.4e-05	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562034	145562034	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:145562034C>T	uc001eob.1	+	9	1830	c.1722C>T	c.(1720-1722)gcC>gcT	p.A574A	ANKRD35_uc010oyx.1_Silent_p.A417A	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	574								p.A574D(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAAAGGCAGCCCCAGGGAGCA	0.602000														32			7		0	0	0.00198382	0	0
FLNC	2318	broad.mit.edu	37	7	128483878	128483878	+	Missense_Mutation	SNP	G	A	A	rs143970363	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:128483878G>A	uc003vnz.4	+	18	3049	c.2840G>A	c.(2839-2841)gGc>gAc	p.G947D	FLNC_uc003voa.4_Missense_Mutation_p.G947D	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	947					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGACTTATGGCGGGGACCCT	0.532000														85			7		0	0	0.000157383	0	0
TRPC7	57113	broad.mit.edu	37	5	135692717	135692717	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:135692717C>T	uc003lbn.2	-	1	581	c.359G>A	c.(358-360)cGc>cAc	p.R120H	TRPC7_uc010jef.2_Missense_Mutation_p.R111H|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.R120H|TRPC7_uc010jei.2_Missense_Mutation_p.R120H	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	120					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.R120C(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCCACGATGCGCACATAGCC	0.662000														18			5		0	0	0.000602214	0	0
ZSCAN4	201516	broad.mit.edu	37	19	58189533	58189533	+	Splice_Site	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:58189533G>A	uc002qpu.3	+	5	1260	c.563_splice	c.e5-1	p.G188_splice		NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN	Homo sapiens zinc finger and SCAN domain containing 4 (ZSCAN4), mRNA.	188					telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TATTTTCACAGGATATGAAGA	0.373000														46			5		0	0	0.00116845	0	0
PIGS	94005	broad.mit.edu	37	17	26883864	26883864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:26883864G>A	uc002hbo.2	-	8	1434	c.1061C>T	c.(1060-1062)cCc>cTc	p.P354L	PIGS_uc002hbn.2_Missense_Mutation_p.P346L|PIGS_uc010wap.1_Missense_Mutation_p.P293L	NM_033198	NP_149975	Q96S52	PIGS_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class S (PIGS), mRNA.	354					C-terminal protein lipidation|attachment of GPI anchor to protein	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					ACCCCAGCGGGGACTATGGAA	0.542000														6			12		0	0	0.00185496	0	0
SPTBN2	6712	broad.mit.edu	37	11	66456164	66456164	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:66456164G>A	uc001ojd.3	-	29	6263	c.6191C>T	c.(6190-6192)gCc>gTc	p.A2064V	SPTBN2_uc001ojc.1_5'Flank	NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	2064					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CTCCTCCCAGGCCACTGCTGA	0.632000														15			5		0	0	0.000602214	0	0
C11orf41	25758	broad.mit.edu	37	11	33564636	33564636	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:33564636G>T	uc021qfs.1	+	0	760	c.636G>T	c.(634-636)caG>caT	p.Q212H	C11orf41_uc001mun.1_Missense_Mutation_p.Q212H	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	212						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						CTTTCCTCCAGCCCACAGAGA	0.567000											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		41			12		5.50884e-06	1.8517e-05	0.00136819	1	0
OR2W1	26692	broad.mit.edu	37	6	29012353	29012353	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:29012353G>A	uc003nlw.2	-	0	600	c.600C>T	c.(598-600)ttC>ttT	p.F200F	LOC100129636_uc021ytq.1_Intron	NM_030903	NP_112165	Q9Y3N9	OR2W1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 1 (OR2W1), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F200F(2)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						TGCCTAAAGCGAAAACAGACA	0.423000														59			61		0	0	0.000781405	0	0
PTPRN	5798	broad.mit.edu	37	2	220167060	220167060	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:220167060G>A	uc002vkz.3	-	5	1034	c.793C>T	c.(793-795)Cca>Tca	p.P265S	PTPRN_uc010zlc.2_Missense_Mutation_p.P175S|PTPRN_uc002vla.3_Missense_Mutation_p.P265S	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	265					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GAAGGCCCTGGAAGGTCCCCG	0.637000														9			8		0	0	0.000157383	0	0
FAT4	79633	broad.mit.edu	37	4	126336719	126336719	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:126336719G>A	uc003ifj.4	+	4	6601	c.6601G>A	c.(6601-6603)Gaa>Aaa	p.E2201K	FAT4_uc011cgp.2_Missense_Mutation_p.E499K	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2201	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TACCAATCAGGAATTTCGGAT	0.433000														35			9		0	0	0.000442599	0	0
RNF148	378925	broad.mit.edu	37	7	122342384	122342384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:122342384G>A	uc003vkk.1	-	0	638	c.421C>T	c.(421-423)Ccc>Tcc	p.P141S	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	Homo sapiens ring finger protein 148 (RNF148), mRNA.	141	PA.					integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TGAGACATGGGAAATACTTTA	0.448000														129			17		0	0	0.000422831	0	0
MYO9B	4650	broad.mit.edu	37	19	17213280	17213280	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:17213280C>T	uc010eak.3	+	1	905	c.753C>T	c.(751-753)ttC>ttT	p.F251F	MYO9B_uc002nfi.3_Silent_p.F251F|MYO9B_uc002nfj.1_Silent_p.F251F	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	251	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	ADP binding|ATP binding|ATPase activity|Rho GTPase activator activity|actin binding|calmodulin binding|metal ion binding|microfilament motor activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCACCAACTTCCTCATCCACT	0.647000														11			6		0	0	0.00198382	0	0
HMMR	3161	broad.mit.edu	37	5	162910345	162910346	+	Missense_Mutation	DNP	AA	TG	TG			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:162910345_162910346AA>TG	uc003lzh.3	+	14	1939_1940	c.1757_1758AA>TG	c.(1756-1758)gaa>gTG	p.E586V	HMMR_uc003lzf.3_Missense_Mutation_p.E585V|HMMR_uc003lzg.3_Missense_Mutation_p.E570V|HMMR_uc011dem.2_Missense_Mutation_p.E499V|BC035392_uc003lzi.3_Intron	NM_001142556	NP_001136028	O75330	HMMR_HUMAN	Homo sapiens hyaluronan-mediated motility receptor (RHAMM) (HMMR), transcript variant 1, mRNA.	585						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		CTCTATGAAGAACTATATAATA	0.322000														83			10		0	0	6.4e-05	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17135970	17135970	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:17135970G>A	uc001mmq.4	-	18	3324	c.3259C>T	c.(3259-3261)Cag>Tag	p.Q1087*	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Nonsense_Mutation_p.Q707*|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	1087					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	Golgi apparatus|clathrin-coated vesicle|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TTATTTTTCTGAAAAAAGGAC	0.318000														78			47		0	0	0.000781405	0	0
NSUN5	55695	broad.mit.edu	37	7	72717711	72717711	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:72717711G>A	uc003txw.3	-	8	1249	c.1172C>T	c.(1171-1173)cCc>cTc	p.P391L	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Missense_Mutation_p.P391L|NSUN5_uc003txv.3_Missense_Mutation_p.P391L|NSUN5_uc003txx.3_Missense_Mutation_p.P353L	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	391							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				GCCTCGGTGGGGCCAGGCAGG	0.667000														20			9		0	0	0.000442599	0	0
RAB40C	57799	broad.mit.edu	37	16	677464	677464	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:677464G>A	uc021szt.1	+	6	910	c.688G>A	c.(688-690)Ggc>Agc	p.G230S	RAB40C_uc021szu.1_Missense_Mutation_p.G230S|RAB40C_uc021szv.1_Missense_Mutation_p.G230S|RAB40C_uc002chq.3_Missense_Mutation_p.G211S|RAB40C_uc002chr.3_Missense_Mutation_p.G230S|AK128777_uc002chs.1_5'Flank	NM_001172663	NP_066991	Q96S21	RB40C_HUMAN	Homo sapiens RAB40C, member RAS oncogene family (RAB40C), transcript variant 1, mRNA.	230					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				GATGGCCAACGGCATGAACGC	0.647000														60			12		0	0	0.00136819	0	0
OR2M5	127059	broad.mit.edu	37	1	248308485	248308485	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248308485C>T	uc010pze.2	+	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ACTCTGACTTCATCCTCCTGG	0.443000														64			31		0	0	0.000814825	0	0
NAB1	4664	broad.mit.edu	37	2	191524650	191524650	+	Missense_Mutation	SNP	C	T	T	rs1053176		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:191524650C>T	uc002usb.3	+	3	1320	c.748C>T	c.(748-750)Cgg>Tgg	p.R250W	NAB1_uc010fsc.3_Missense_Mutation_p.R250W|NAB1_uc010fsd.3_Missense_Mutation_p.R250W|NAB1_uc002usc.3_Missense_Mutation_p.R250W|NAB1_uc010zgh.2_Missense_Mutation_p.R250W	NM_005966	NP_005957	Q13506	NAB1_HUMAN	Homo sapiens NGFI-A binding protein 1 (EGR1 binding protein 1) (NAB1), mRNA.	250	NCD2.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			GGAGGAAATTCGGAAATACAG	0.418000														47			13		0	0	0.000308642	0	0
DIS3L2	129563	broad.mit.edu	37	2	233198570	233198570	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:233198570G>A	uc010fxz.3	+	16	2307	c.2031G>A	c.(2029-2031)tcG>tcA	p.S677S	DIS3L2_uc002vsm.4_Non-coding_Transcript|DIS3L2_uc002vso.3_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.	677							RNA binding|exonuclease activity|ribonuclease activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		ACTTCTGCTCGGGGCTGCTGC	0.657000											OREG0015283	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		31			21		0	0	0.000720815	0	0
NLRP3	114548	broad.mit.edu	37	1	247597441	247597441	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:247597441C>T	uc001icr.3	+	6	2502	c.2364C>T	c.(2362-2364)ttC>ttT	p.F788F	NLRP3_uc001ics.3_Silent_p.F788F|NLRP3_uc001icu.3_Silent_p.F788F|NLRP3_uc001icw.3_Silent_p.F731F|NLRP3_uc001icv.3_Silent_p.F731F|NLRP3_uc010pyw.2_Intron	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	788					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGTGCTGCTTCGACATCTCCT	0.562000														75			17		0	0	0.00074312	0	0
ROBO3	64221	broad.mit.edu	37	11	124742816	124742816	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:124742816G>A	uc001qbc.3	+	8	1536	c.1367G>A	c.(1366-1368)gGa>gAa	p.G456E		NM_022370	NP_071765	Q96MS0	ROBO3_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 3 (Drosophila) (ROBO3), mRNA.	456	Ig-like C2-type 5.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ATCCTCCAGGGACCAGCCAAT	0.627000														5			3		0	0	6.4e-05	0	0
C11orf24	53838	broad.mit.edu	37	11	68029160	68029160	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:68029160G>A	uc001onr.4	-	3	1745	c.1303C>T	c.(1303-1305)Cag>Tag	p.Q435*		NM_022338	NP_071733	Q96F05	CK024_HUMAN	Homo sapiens chromosome 11 open reading frame 24 (C11orf24), mRNA.	435						integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						TAGTCCACCTGGGTGTAGTCC	0.557000														38			9		0	0	0.000673444	0	0
C15orf2	23742	broad.mit.edu	37	15	24921861	24921861	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:24921861G>A	uc001ywo.3	+	0	1321	c.847G>A	c.(847-849)Gaa>Aaa	p.E283K		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	283					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AGTGCTGAATGAAGAGCCACC	0.602000														26			22		0	0	0.00188189	0	0
KALRN	8997	broad.mit.edu	37	3	124103814	124103814	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:124103814C>T	uc003ehg.3	+	10	2014	c.1887C>T	c.(1885-1887)ttC>ttT	p.F629F	KALRN_uc010hrv.1_Silent_p.F629F|KALRN_uc003ehf.1_Silent_p.F629F|KALRN_uc011bjy.1_Silent_p.F629F|KALRN_uc003ehh.1_5'UTR	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	629					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.F629F(6)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCCAAGACTTCGTGCGCAGGG	0.572000														25			11		0	0	0.000978159	0	0
AKR1C2	1646	broad.mit.edu	37	10	5043870	5043870	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:5043870G>A	uc001ihs.3	-	3	501	c.88C>T	c.(88-90)Cct>Tct	p.P30S	AKR1C3_uc001ihr.3_Intron|AKR1C2_uc009xhy.3_Missense_Mutation_p.P30S|AKR1C2_uc001iht.3_Missense_Mutation_p.P30S|AKR1C2_uc010qao.2_Missense_Mutation_p.P30S	NM_001354	NP_001345	P52895	AK1C2_HUMAN	Homo sapiens aldo-keto reductase family 1, member C2 (dihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type III) (AKR1C2), transcript variant 1, mRNA.	30					digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity	p.V29A(1)		breast(1)|large_intestine(5)|lung(3)|skin(1)	10					NADH(DB00157)|Ursodeoxycholic acid(DB01586)	TTACTTTTAGGAACCTGGGGG	0.443000														44			12		0	0	0.00244969	0	0
CCDC102B	79839	broad.mit.edu	37	18	66564615	66564615	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:66564615C>T	uc002lkk.2	+	7	1436	c.1213C>T	c.(1213-1215)Caa>Taa	p.Q405*	CCDC102B_uc002lki.2_Nonsense_Mutation_p.Q405*|CCDC102B_uc002lkj.1_Nonsense_Mutation_p.Q405*	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	405										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)				TGCAAACTCTCAAAGTCCTGA	0.393000														118			23		0	0	0.000720815	0	0
LIG1	3978	broad.mit.edu	37	19	48619177	48619177	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:48619177G>A	uc002pia.1	-	26	2749	c.2629C>T	c.(2629-2631)Cga>Tga	p.R877*	LIG1_uc010xze.1_Nonsense_Mutation_p.R570*|LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_Nonsense_Mutation_p.R809*|LIG1_uc010xzg.1_Nonsense_Mutation_p.R846*	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.	877					DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle|anatomical structure morphogenesis|base-excision repair|cell division|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	p.R877*(2)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TCACGGACTCGAATAAACCGA	0.647000								Nucleotide excision repair (NER)						16			9		0	0	0.000442599	0	0
ATF6B	1388	broad.mit.edu	37	6	32083537	32083537	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:32083537G>A	uc003nzn.3	-	17	2124	c.2091C>T	c.(2089-2091)ccC>ccT	p.P697P	TNXB_uc010jts.1_Intron|ATF6B_uc003nzm.1_Intron|ATF6B_uc003nzo.3_Silent_p.P694P	NM_004381	NP_004372	Q99941	ATF6B_HUMAN	Homo sapiens activating transcription factor 6 beta (ATF6B), transcript variant 1, mRNA.	697					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TGAGGTAGAGGGGCTGGTGGG	0.612000														268			36		0	0	0.00148497	0	0
ALOX15	246	broad.mit.edu	37	17	4540539	4540539	+	Silent	SNP	G	A	A	rs146411013		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:4540539G>A	uc002fyh.3	-	6	847	c.822C>T	c.(820-822)ttC>ttT	p.F274F	ALOX15_uc010vsd.2_Silent_p.F235F|ALOX15_uc010vse.2_Silent_p.F296F	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	274	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	AGTCAGCTTCGAACAGTGTGC	0.552000														26			8		0	0	0.000274275	0	0
MUC16	94025	broad.mit.edu	37	19	9059043	9059043	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9059043G>A	uc002mkp.3	-	2	28607	c.28403C>T	c.(28402-28404)aCc>aTc	p.T9468I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9470	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						CATGATAGAGGTGAAAAGAGA	0.483000														44			11		0	0	0.00136819	0	0
CHD6	84181	broad.mit.edu	37	20	40034031	40034031	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:40034031G>A	uc002xka.1	-	36	7528	c.7350C>T	c.(7348-7350)ctC>ctT	p.L2450L	CHD6_uc002xjz.1_5'UTR	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2450					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|chromatin binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GAGCCTTCAGGAGTTCGCTCC	0.557000														26			11		0	0	0.000978159	0	0
GRM8	2918	broad.mit.edu	37	7	126173432	126173432	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:126173432G>A	uc003vlr.2	-	7	2315	c.2004C>T	c.(2002-2004)acC>acT	p.T668T	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.T668T|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	668					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGTTTGTTTTGGTCAGAAGGG	0.478000										HNSCC(24;0.065)				89			6		0	0	0.000157383	0	0
KRT33A	3883	broad.mit.edu	37	17	39502485	39502485	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:39502485G>A	uc002hwk.1	-	6	1138	c.1101C>T	c.(1099-1101)ctC>ctT	p.L367L		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	367	Tail.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GGTTGGAGGGGAGCCTGTGGG	0.488000														72			10		0	0	0.000673444	0	0
ADAMTS20	80070	broad.mit.edu	37	12	43858400	43858401	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:43858400_43858401GG>AA	uc010skx.2	-	9	1502_1503	c.1502_1503CC>TT	c.(1501-1503)ccc>cTT	p.P501L		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	501	Disintegrin.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTACTATATGGGGACACATTTG	0.337000														76			20		0	0	6.4e-05	0	0
ZNF259	8882	broad.mit.edu	37	11	116655158	116655159	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:116655158_116655159GG>TT	uc001ppp.3	-	8	859_860	c.826_827CC>AA	c.(826-828)cct>AAt	p.P276N		NM_003904	NP_003895	O75312	ZPR1_HUMAN	Homo sapiens zinc finger protein 259 (ZNF259), mRNA.	276					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CTTAAAGTGAGGGATTTCTGGA	0.485000														232			9		0	0	6.4e-05	0	0
MUC16	94025	broad.mit.edu	37	19	9063016	9063016	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9063016C>T	uc002mkp.3	-	2	24634	c.24430G>A	c.(24430-24432)Gga>Aga	p.G8144R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8146	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						GTGGGCACTCCAGAAAGGACA	0.537000														25			11		0	0	0.000978159	0	0
GPR19	2842	broad.mit.edu	37	12	12815265	12815265	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:12815265G>A	uc001rar.3	-	1	311	c.118C>T	c.(118-120)Ctg>Ttg	p.L40L	GPR19_uc001raq.2_Silent_p.L40L|GPR19_uc021qvj.1_Silent_p.L40L	NM_006143	NP_006134	Q15760	GPR19_HUMAN	Homo sapiens G protein-coupled receptor 19 (GPR19), mRNA.	40						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		AATTCCATCAGGTATTGGCTT	0.498000														76			23		0	0	0.00047179	0	0
EMID2	136227	broad.mit.edu	37	7	101192500	101192500	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:101192500C>T	uc010lhy.1	+	8	1175	c.983C>T	c.(982-984)tCc>tTc	p.S328F	EMID2_uc003uyo.1_Missense_Mutation_p.S330F	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	Homo sapiens EMI domain containing 2 (EMID2), mRNA.	330	Collagen-like 2.					collagen				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	18	Lung NSC(181;0.215)					ACACCTGGATCCCAGGTAAGG	0.642000														47			5		0	0	0.00198382	0	0
RBBP6	5930	broad.mit.edu	37	16	24582974	24582974	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:24582974C>T	uc002dmh.3	+	17	5627	c.4587C>T	c.(4585-4587)tcC>tcT	p.S1529S	RBBP6_uc002dmi.3_Silent_p.S1495S|RBBP6_uc010bxr.3_Silent_p.S689S|RBBP6_uc002dmk.3_Silent_p.S1362S	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1529	Interaction with p53 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CAGGAGATTCCAAAAAAAGTA	0.378000														32			14		0	0	0.00185496	0	0
TKT	7086	broad.mit.edu	37	3	53259838	53259838	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:53259838C>T	uc003dgo.3	-	13	1978	c.1806G>A	c.(1804-1806)ctG>ctA	p.L602L	TKT_uc003dgp.2_Silent_p.L234L|TKT_uc011beo.1_Silent_p.L555L|TKT_uc003dgq.3_Silent_p.L602L|TKT_uc011beq.2_Silent_p.L610L|TKT_uc011ber.2_Silent_p.L404L	NM_001135055	NP_001128527	P29401	TKT_HUMAN	Homo sapiens transketolase (TKT), transcript variant 2, mRNA.	602					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	CAAACATCTTCAGCAGCTCAG	0.587000														18			6		0	0	0.000157383	0	0
AKAP1	8165	broad.mit.edu	37	17	55183565	55183565	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:55183565A>T	uc010wnl.2	+	2	1022	c.740A>T	c.(739-741)aAg>aTg	p.K247M	AKAP1_uc002iux.3_Missense_Mutation_p.K247M|AKAP1_uc021uak.1_Missense_Mutation_p.K247M|AKAP1_uc010dcm.3_Missense_Mutation_p.K247M|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	247					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	RNA binding|protein binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					GATAAGGGGAAGAGCAGCTCA	0.552000														91			18		0	0	0.00152264	0	0
MYH1	4619	broad.mit.edu	37	17	10408304	10408304	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:10408304G>A	uc002gmo.3	-	21	2608	c.2514C>T	c.(2512-2514)ttC>ttT	p.F838F	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	838						muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GTTTGATCTTGAAATACAGCT	0.463000														30			22		0	0	0.00188189	0	0
ANXA6	309	broad.mit.edu	37	5	150488021	150488021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:150488021G>A	uc003ltl.2	-	22	2003	c.1775C>T	c.(1774-1776)gCc>gTc	p.A592V	ANXA6_uc011dcp.2_Missense_Mutation_p.A560V|ANXA6_uc003lto.2_Missense_Mutation_p.A179V	NM_001155	NP_001180473	P08133	ANXA6_HUMAN	Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA.	592						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTTACCAATGGCCACAAATGC	0.517000														69			43		0	0	0.000781405	0	0
PSG3	5671	broad.mit.edu	37	19	43242876	43242876	+	Splice_Site	SNP	G	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:43242876G>C	uc002oue.3	-	2	562	c.430_splice	c.e2+1	p.L144_splice	PSG3_uc002ouf.3_Splice_Site|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	144	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AGTCACTCACGGTATAAGGTG	0.522000														48			42		0	0	0.000781405	0	0
DGKK	139189	broad.mit.edu	37	X	50167291	50167291	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:50167291A>G	uc010njr.2	-	1	755	c.711T>C	c.(709-711)taT>taC	p.Y237Y		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	237	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GAACCAGAAAATATCTAAGCT	0.403000														20			14		0	0	0.000422831	0	0
PRKAG3	53632	broad.mit.edu	37	2	219695037	219695037	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:219695037C>T	uc002vjb.1	-	3	316	c.297G>A	c.(295-297)ttG>ttA	p.L99L	PRKAG3_uc010zkn.1_Non-coding_Transcript|PRKAG3_uc010fvy.1_Silent_p.L99L|PRKAG3_uc010zko.1_Silent_p.L95L	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.	99					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCTTGAGCCAAGGGTGTGG	0.637000														21			5		0	0	0.00116845	0	0
ADCY8	114	broad.mit.edu	37	8	131792904	131792904	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:131792904C>T	uc003ytd.4	-	17	3744	c.3488G>A	c.(3487-3489)gGa>gAa	p.G1163E	ADCY8_uc010mds.3_Missense_Mutation_p.G1032E	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	1163					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	p.G1163*(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTTGATTTTTCCTTCCTGTTC	0.512000										HNSCC(32;0.087)				44			9		0	0	0.000442599	0	0
GON4L	54856	broad.mit.edu	37	1	155823120	155823120	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:155823120G>A	uc001flz.2	-	1	549	c.452C>T	c.(451-453)aCc>aTc	p.T151I	GON4L_uc001fly.1_Missense_Mutation_p.T151I|GON4L_uc009wrh.1_Missense_Mutation_p.T151I|GON4L_uc001fma.1_Missense_Mutation_p.T151I|GON4L_uc001fmc.3_Missense_Mutation_p.T151I|GON4L_uc001fmd.4_Missense_Mutation_p.T151I|GON4L_uc009wri.3_5'UTR	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	151					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTCCTTTAGGGTAAGATGATC	0.438000														122			31		0	0	0.00283554	0	0
TEP1	7011	broad.mit.edu	37	14	20845648	20845648	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:20845648G>A	uc001vxe.3	-	40	5919	c.5879C>T	c.(5878-5880)tCc>tTc	p.S1960F	TEP1_uc010ahk.3_Missense_Mutation_p.S1303F|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.S1852F|TEP1_uc010tlh.1_Missense_Mutation_p.S298F	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1960					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGCCCCCTGGGAACCTAGAGA	0.582000														24			8		0	0	0.000157383	0	0
ZNF606	80095	broad.mit.edu	37	19	58490541	58490541	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:58490541G>A	uc002qqw.3	-	6	2125	c.1507C>T	c.(1507-1509)Cag>Tag	p.Q503*	ZNF606_uc010yhp.2_Nonsense_Mutation_p.Q413*	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		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;0.0168)		TGAGTCCTCTGATGTCCAATA	0.383000														25			9		0	0	0.000274275	0	0
C1orf141	400757	broad.mit.edu	37	1	67592890	67592890	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:67592890G>A	uc001ddl.1	-	1	145	c.34C>T	c.(34-36)Ctt>Ttt	p.L12F	C1orf141_uc001ddm.1_Missense_Mutation_p.L12F|C1orf141_uc001ddn.1_Non-coding_Transcript	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	Homo sapiens chromosome 1 open reading frame 141 (C1orf141), mRNA.	12										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TGCTTATCAAGGACATCCAAC	0.313000														106			27		0	0	0.00283554	0	0
CEACAM19	56971	broad.mit.edu	37	19	45176121	45176121	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:45176121C>T	uc002ozo.4	+	1	789	c.309C>T	c.(307-309)ccC>ccT	p.P103P	CEACAM19_uc002ozp.4_Silent_p.P103P	NM_020219	NP_064604	Q7Z692	CEA19_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 19 (CEACAM19), transcript variant 2, mRNA.	103						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				TGGGCTTCCCCAATGGTTCCA	0.567000														165			8		0	0	0.000274275	0	0
PIAS3	10401	broad.mit.edu	37	1	145580513	145580513	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:145580513C>T	uc001eoc.1	+	6	904	c.813C>T	c.(811-813)tcC>tcT	p.S271S	PIAS3_uc010oyy.1_3'UTR|PIAS3_uc001eod.1_5'UTR	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	271	PINIT.				positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGAATTACTCCTTGTCTGTGT	0.512000														31			5		0	0	0.00116845	0	0
PER1	5187	broad.mit.edu	37	17	8045721	8045721	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:8045721C>T	uc002gkd.3	-	20	3553	c.3315G>A	c.(3313-3315)gaG>gaA	p.E1105E	TRNA_Thr_uc021tpt.1_5'Flank|PER1_uc010cns.3_5'Flank|PER1_uc010vuq.2_Non-coding_Transcript	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	1105					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						cagcctcagcctcggAAGAGT	0.617000			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes						21			6		0	0	0.00116845	0	0
CFB	629	broad.mit.edu	37	6	31901725	31901725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31901725C>T	uc011dor.2	+	3	776	c.512C>T	c.(511-513)cCc>cTc	p.P171L	CFB_uc003nyc.2_Missense_Mutation_p.P65S|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Missense_Mutation_p.P110L|CFB_uc003nye.4_Missense_Mutation_p.P233L|CFB_uc003nyf.3_Missense_Mutation_p.P233L|CFB_uc010jtk.3_Missense_Mutation_p.P101L|CFB_uc011doq.2_Missense_Mutation_p.P204L	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	240	Sushi 3.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GCCACCAATCCCACCCAGAAG	0.597000														132			21		0	0	0.00152264	0	0
TTN	7273	broad.mit.edu	37	2	179598013	179598013	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179598013G>A	uc021vsy.1	-	50	12500	c.12275C>T	c.(12274-12276)tCc>tTc	p.S4092F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S753F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5019							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)			CACTTCATTGGAAATCTCAAA	0.378000														39			25		0	0	0.00283554	0	0
SLC5A8	160728	broad.mit.edu	37	12	101581281	101581281	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:101581281G>A	uc001thz.4	-	6	1236	c.846C>T	c.(844-846)atC>atT	p.I282I		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	282					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCACAAGATTGATGTAGAGAG	0.433000														13			7		0	0	0.000157383	0	0
PI3	5266	broad.mit.edu	37	20	43803618	43803618	+	Missense_Mutation	SNP	G	A	A	rs139625638	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:43803618G>A	uc002xng.3	+	0	79	c.55G>A	c.(55-57)Gtt>Att	p.V19I		NM_002638	NP_002629	P19957	ELAF_HUMAN	Homo sapiens peptidase inhibitor 3, skin-derived (PI3), mRNA.	19					copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TGGGACGCTGGTTCTAGAGGC	0.587000														19			14		0	0	0.000308642	0	0
SLC25A40	55972	broad.mit.edu	37	7	87476285	87476285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:87476285G>A	uc003uje.3	-	7	985	c.610C>T	c.(610-612)Ctt>Ttt	p.L204F		NM_018843	NP_061331	Q8TBP6	S2540_HUMAN	Homo sapiens solute carrier family 25, member 40 (SLC25A40), nuclear gene encoding mitochondrial protein, mRNA.	204					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					ACATCTCTAAGAACAGTAGGA	0.378000														59			10		0	0	0.000673444	0	0
TMEM184B	25829	broad.mit.edu	37	22	38641966	38641966	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:38641966G>A	uc003avf.1	-	2	557	c.333C>T	c.(331-333)ttC>ttT	p.F111F	TMEM184B_uc003avh.2_Silent_p.F45F|TMEM184B_uc003avg.2_Silent_p.F111F|TMEM184B_uc010gxl.2_Non-coding_Transcript	NM_001195071	NP_001182001	Q9Y519	T184B_HUMAN	Homo sapiens transmembrane protein 184B (TMEM184B), transcript variant 2, mRNA.	111						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					GGACGGTGCCGAAGTACACGT	0.637000														29			6		0	0	0.00198382	0	0
CCDC50	152137	broad.mit.edu	37	3	191075887	191075887	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:191075887C>T	uc003fsv.3	+	2	803	c.213C>T	c.(211-213)gcC>gcT	p.A71A	CCDC50_uc003fsw.3_Silent_p.A71A	NM_178335	NP_848018	Q8IVM0	CCD50_HUMAN	Homo sapiens coiled-coil domain containing 50 (CCDC50), transcript variant 2, mRNA.	71						cytoplasm	protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|stomach(1)	23	all_cancers(143;8.88e-09)|Ovarian(172;0.103)|Breast(254;0.221)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000136)		AAGCGCAGGCCCAGCTCCAGA	0.552000														41			8		0	0	0.000274275	0	0
AGL	178	broad.mit.edu	37	1	100327133	100327133	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:100327133C>T	uc001dsi.1	+	2	557	c.157C>T	c.(157-159)Cct>Tct	p.P53S	AGL_uc001dsj.1_Missense_Mutation_p.P53S|AGL_uc001dsk.1_Missense_Mutation_p.P53S|AGL_uc001dsl.1_Missense_Mutation_p.P53S|AGL_uc001dsm.1_Missense_Mutation_p.P37S|AGL_uc001dsn.1_Missense_Mutation_p.P36S	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	53					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TTACCCATTTCCTGGAGAAAC	0.348000														36			10		0	0	0.000442599	0	0
XCL1	6375	broad.mit.edu	37	1	168549308	168549308	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:168549308G>A	uc001gfo.2	+	1	234	c.69G>A	c.(67-69)ggG>ggA	p.G23G		NM_002995	NP_002986	P47992	XCL1_HUMAN	Homo sapiens chemokine (C motif) ligand 1 (XCL1), mRNA.	23					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of B cell chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of activated T cell proliferation|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					CAGGTGTAGGGAGTGAAGTCT	0.433000														18			6		0	0	0.00116845	0	0
TTLL4	9654	broad.mit.edu	37	2	219603331	219603331	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:219603331C>T	uc002viy.3	+	2	1302	c.932C>T	c.(931-933)gCc>gTc	p.A311V	TTLL4_uc010zkl.1_Missense_Mutation_p.A146V|TTLL4_uc010fvx.3_Missense_Mutation_p.A311V	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	311					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AATAACTTAGCCATGAGGGCA	0.537000														34			28		0	0	0.001512	0	0
SPPL3	121665	broad.mit.edu	37	12	121248634	121248634	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:121248634G>A	uc001tzd.3	-	1	564	c.79C>T	c.(79-81)Ctt>Ttt	p.L27F		NM_139015	NP_620584	Q8TCT6	PSL4_HUMAN	Homo sapiens signal peptide peptidase-like 3 (SPPL3), mRNA.	27						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TAGACTATAAGAAGAATGGAA	0.393000														78			23		0	0	0.00178596	0	0
DOT1L	84444	broad.mit.edu	37	19	2185856	2185857	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:2185856_2185857GG>TT	uc002lvb.4	+	2	164_165	c.128_129GG>TT	c.(127-129)tgg>tTT	p.W43F		NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	43						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		TGTTTCAGATGGGTCTGTGAAG	0.416000														423			11		0	0	6.4e-05	0	0
LRRC37B	114659	broad.mit.edu	37	17	30348289	30348289	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:30348289C>T	uc002hgu.3	+	0	135	c.124C>T	c.(124-126)Ctg>Ttg	p.L42L	LRRC37B_uc010wbx.2_Intron|LRRC37B_uc010csu.3_Silent_p.L42L	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.	42						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				CTCTAACCCCCTGGGGCCACC	0.617000														39			4		0	0	0.000602214	0	0
SCAND3	114821	broad.mit.edu	37	6	28542481	28542481	+	Silent	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:28542481T>C	uc003nlo.3	-	2	2619	c.2001A>G	c.(1999-2001)aaA>aaG	p.K667K		NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	667					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						TTTTGGAAGGTTTAACAGGCA	0.438000														110			15		0	0	0.000422831	0	0
APOBEC2	10930	broad.mit.edu	37	6	41029481	41029481	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:41029481G>A	uc003opl.3	+	1	693	c.546G>A	c.(544-546)caG>caA	p.Q182Q	UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.3_Non-coding_Transcript	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 (APOBEC2), mRNA.	182					DNA demethylation|mRNA processing		RNA binding|cytidine deaminase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGAAGCCCCAGGACTTCGAAT	0.527000														77			8		0	0	0.000442599	0	0
TIMELESS	8914	broad.mit.edu	37	12	56812082	56812082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:56812082G>A	uc001slf.2	-	26	3458	c.3290C>T	c.(3289-3291)tCt>tTt	p.S1097F		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	1097					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TTGACTCAAAGAAGCTGCTGC	0.547000														88			20		0	0	0.00047179	0	0
RAP1A	5906	broad.mit.edu	37	1	112246968	112246968	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:112246968C>T	uc001ebi.3	+	5	432	c.328C>T	c.(328-330)Cca>Tca	p.P110S	RAP1A_uc001ebk.3_Missense_Mutation_p.P110S|RAP1A_uc001ebl.3_Missense_Mutation_p.P110S	NM_002884	NP_002875	P62834	RAP1A_HUMAN	Homo sapiens RAP1A, member of RAS oncogene family (RAP1A), transcript variant 2, mRNA.	110					activation of MAPKK activity|blood coagulation|energy reserve metabolic process|nerve growth factor receptor signaling pathway|regulation of insulin secretion	cytosol|plasma membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(81;6.79e-06)|all_epithelial(167;2.42e-05)|all_lung(203;0.000105)|Lung NSC(277;0.00021)		Lung(183;0.0183)|Colorectal(144;0.0418)|LUSC - Lung squamous cell carcinoma(189;0.0966)|all cancers(265;0.098)|Epithelial(280;0.0981)|COAD - Colon adenocarcinoma(174;0.141)		CCCACAGGTTCCAATGATTTT	0.378000														25			7		0	0	0.000157383	0	0
KIF21B	23046	broad.mit.edu	37	1	200968558	200968558	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:200968558C>T	uc001gvs.2	-	12	2121	c.1804G>A	c.(1804-1806)Gag>Aag	p.E602K	KIF21B_uc009wzl.2_Missense_Mutation_p.E602K|KIF21B_uc001gvr.2_Missense_Mutation_p.E602K|KIF21B_uc010ppn.2_Missense_Mutation_p.E602K	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	602					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						CGCCCTTCCTCCTCCTCACAG	0.642000														48			12		0	0	0.00244969	0	0
GRK4	2868	broad.mit.edu	37	4	3015492	3015492	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:3015492G>A	uc003ggn.1	+	7	1133	c.678G>A	c.(676-678)agG>agA	p.R226R	GRK4_uc003ggo.1_Silent_p.R226R|GRK4_uc003ggp.1_Silent_p.R194R|GRK4_uc003ggq.1_Silent_p.R194R	NM_182982	NP_892027	P32298	GRK4_HUMAN	Homo sapiens G protein-coupled receptor kinase 4 (GRK4), transcript variant 1, mRNA.	226	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TAAAGAAGAGGAAAGGTGAAG	0.378000														88			30		0	0	0.00209593	0	0
VPS13C	54832	broad.mit.edu	37	15	62165568	62165568	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:62165568A>G	uc002agz.3	-	77	10546	c.10455T>C	c.(10453-10455)gtT>gtC	p.V3485V	VPS13C_uc002aha.3_Silent_p.V3442V|VPS13C_uc002ahb.2_Silent_p.V3485V|VPS13C_uc002ahc.2_Silent_p.V3442V	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	3485					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AACCTTTCCCAACAGAACCGG	0.428000														77			12		0	0	0.000422831	0	0
NCOA1	8648	broad.mit.edu	37	2	24916135	24916135	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:24916135C>T	uc002rfk.3	+	7	986	c.727C>T	c.(727-729)Ctg>Ttg	p.L243L	NCOA1_uc010eye.3_Silent_p.L243L|NCOA1_uc002rfi.3_Silent_p.L92L|NCOA1_uc002rfj.3_Silent_p.L243L|NCOA1_uc002rfl.3_Silent_p.L243L	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	243									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)					CCAGTCATGTCTGATTTGTAT	0.393000			T	PAX3	alveolar rhadomyosarcoma									73			14		0	0	0.00074312	0	0
PPP1R9B	84687	broad.mit.edu	37	17	48221007	48221007	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:48221007G>A	uc002iqh.4	-	3	1560	c.1557C>T	c.(1555-1557)ttC>ttT	p.F519F		NM_032595	NP_115984	Q96SB3	NEB2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9B (PPP1R9B), mRNA.	525	Interacts with RGS2 (By similarity).|PDZ.				RNA splicing|cell cycle arrest|cell differentiation|cell migration|filopodium assembly|negative regulation of cell growth|nervous system development|regulation of cell growth by extracellular stimulus|regulation of cell proliferation|regulation of exit from mitosis	adherens junction|cytoskeleton|dendritic spine|filopodium|lamellipodium|nucleoplasm|protein phosphatase type 1 complex|ruffle membrane|synapse	actin binding|protein phosphatase 1 binding|protein phosphatase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						CGGTCTTGACGAAGATACCCA	0.627000														30			7		0	0	0.000157383	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763658	77763658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:77763658C>T	uc003yau.2	+	9	4888	c.4501C>T	c.(4501-4503)Cct>Tct	p.P1501S	ZFHX4_uc003yaw.1_Missense_Mutation_p.P1456S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1456						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)			GAAAGCAAGTCCTGTAGGAAG	0.473000										HNSCC(33;0.089)				28			16		0	0	0.000566183	0	0
CCDC142	84865	broad.mit.edu	37	2	74708478	74708478	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:74708478G>A	uc002slr.3	-	2	1523	c.1130C>T	c.(1129-1131)tCa>tTa	p.S377L	TTC31_uc002sls.2_5'Flank|TTC31_uc002slt.2_5'Flank|TTC31_uc002slu.2_5'Flank|CCDC142_uc002slo.3_Non-coding_Transcript|CCDC142_uc002slq.3_Missense_Mutation_p.S377L|CCDC142_uc002slp.2_Missense_Mutation_p.S377L	NM_032779	NP_116168	Q17RM4	CC142_HUMAN	Homo sapiens coiled-coil domain containing 142 (CCDC142), mRNA.	377										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						CCCAAGAGCTGATCCCAAGGC	0.572000														32			13		0	0	0.000308642	0	0
NARS	4677	broad.mit.edu	37	18	55269716	55269716	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:55269716G>A	uc002lgs.2	-	12	1614	c.1386C>T	c.(1384-1386)gtC>gtT	p.V462V	NARS_uc010xea.1_Silent_p.V213V	NM_004539	NP_004530	O43776	SYNC_HUMAN	Homo sapiens asparaginyl-tRNA synthetase (NARS), mRNA.	462					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|asparagine-tRNA ligase activity|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	TCAACACGTCGACCTTTAAAT	0.398000														11			20		0	0	0.00152264	0	0
ATP10B	23120	broad.mit.edu	37	5	160029662	160029662	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:160029662C>T	uc003lym.1	-	20	4132	c.3285G>A	c.(3283-3285)aaG>aaA	p.K1095K	ATP10B_uc010jit.1_Silent_p.K412K	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	1095					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)			GCAGCAACTTCTTGAGATGCT	0.552000														10			4		0	0	0.00024832	0	0
C1orf173	127254	broad.mit.edu	37	1	75038907	75038907	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:75038907C>T	uc001dgg.3	-	13	2706	c.2487G>A	c.(2485-2487)agG>agA	p.R829R		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	829	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GAGGGATCTCCCTTTTTTCTG	0.572000														28			8		0	0	0.000442599	0	0
ZNF331	55422	broad.mit.edu	37	19	54080038	54080038	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:54080038G>A	uc002qbx.1	+	6	1658	c.224G>A	c.(223-225)aGa>aAa	p.R75K	ZNF331_uc002qby.1_Missense_Mutation_p.R75K|ZNF331_uc002qbz.1_Missense_Mutation_p.R75K|ZNF331_uc010eqr.1_Missense_Mutation_p.R75K|ZNF331_uc002qca.1_Missense_Mutation_p.R75K|ZNF331_uc021uzg.1_Missense_Mutation_p.R75K|ZNF331_uc021uzh.1_Missense_Mutation_p.R75K|ZNF331_uc002qcb.1_Missense_Mutation_p.R75K|ZNF331_uc002qcc.1_Missense_Mutation_p.R75K|ZNF331_uc002qcd.1_Missense_Mutation_p.R75K	NM_018555	NP_061025	Q9NQX6	ZN331_HUMAN	Homo sapiens zinc finger protein 331 (ZNF331), transcript variant 1, mRNA.	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TCAGATAGAAGAAGTAAATCC	0.388000			T	?	follicular thyroid adenoma									36			14		0	0	0.00185496	0	0
CD163	9332	broad.mit.edu	37	12	7640497	7640497	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:7640497C>T	uc001qsz.3	-	6	1735	c.1607G>A	c.(1606-1608)gGa>gAa	p.G536E	CD163_uc001qta.3_Missense_Mutation_p.G536E|CD163_uc009zfw.2_Missense_Mutation_p.G536E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	536	SRCR 5.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CTGTCCATTTCCCTCTCCAAA	0.532000														15			9		0	0	0.000442599	0	0
STK19	8859	broad.mit.edu	37	6	31940123	31940123	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31940123G>A	uc003nyv.3	+	1	393	c.265G>A	c.(265-267)Gac>Aac	p.D89N	DOM3Z_uc003nyp.1_5'Flank|DOM3Z_uc003nyq.1_5'Flank|DOM3Z_uc010jtl.1_5'Flank|STK19_uc003nyt.3_Missense_Mutation_p.D46N|DOM3Z_uc003nyu.1_5'Flank|STK19_uc011dow.2_Missense_Mutation_p.D89N|STK19_uc011dox.1_Missense_Mutation_p.D46N|STK19_uc003nyw.3_Missense_Mutation_p.D89N|STK19_uc010jtn.1_Non-coding_Transcript	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	89			D -> N (in a metastatic melanoma sample; somatic mutation).			nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.D89N(6)|p.E88K(1)		skin(5)|upper_aerodigestive_tract(2)	7						TGCGCCGGAAGACCCTATTTT	0.582000														82			6		0	0	0.00198382	0	0
HERC2P3	283755	broad.mit.edu	37	15	20649654	20649654	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:20649654G>A	uc001ytg.3	-	17	2564	c.1855C>T	c.(1855-1857)Cta>Tta	p.L619L	HERC2P3_uc010tyx.1_Non-coding_Transcript|HERC2P3_uc001yth.4_Silent_p.L619L|HERC2P3_uc010tyy.2_Silent_p.L619L					Homo sapiens hect domain and RLD 2 pseudogene 3 (HERC2P3), non-coding RNA.									p.G618G(1)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ACTCGGCCTAGGCCTGGAGGA	0.552000														48			8		0	0	0.000274275	0	0
PKD1L1	168507	broad.mit.edu	37	7	47969010	47969010	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:47969010C>T	uc003tny.2	-	6	885	c.851G>A	c.(850-852)cGa>cAa	p.R284Q		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	284					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ATCAGAATTTCGAGCTAGGAT	0.537000														77			25		0	0	0.000586117	0	0
AL117485	0	broad.mit.edu	37	22	18846114	18846114	+	RNA	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:18846114G>A	uc002zoe.3	+	4		c.2476G>A			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		TCTCCTCCACGCACTGGCGCA	0.612000														10			4		0	0	0.00024832	0	0
FABP12	646486	broad.mit.edu	37	8	82439285	82439285	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:82439285C>T	uc011lfp.2	-	2	318	c.318G>A	c.(316-318)acG>acA	p.T106T	FABP12_uc003ycg.4_Non-coding_Transcript	NM_001105281	NP_001098751	A6NFH5	FBP12_HUMAN	Homo sapiens fatty acid binding protein 12 (FABP12), mRNA.	106							lipid binding|transporter activity			large_intestine(1)|lung(3)	4						CCAGCTTTCTCGTTATGGTGG	0.413000														44			10		0	0	0.00136819	0	0
DDX55	57696	broad.mit.edu	37	12	124093275	124093275	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:124093275G>A	uc001ufi.3	+	5	474	c.450G>A	c.(448-450)cgG>cgA	p.R150R	DDX55_uc001ufh.3_Silent_p.R3R|DDX55_uc001ufj.1_Silent_p.R3R|DDX55_uc001ufk.3_Silent_p.R3R	NM_020936	NP_065987	Q8NHQ9	DDX55_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 55 (DDX55), mRNA.	150	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		ACATGTTCCGGAGGAAGGCCG	0.527000														81			26		0	0	0.00127121	0	0
ATAD3A	55210	broad.mit.edu	37	1	1463114	1463114	+	Silent	SNP	C	T	T	rs74047254		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:1463114C>T	uc001afz.2	+	13	1647	c.1521C>T	c.(1519-1521)ttC>ttT	p.F507F	ATAD3A_uc001aga.2_Silent_p.F459F|ATAD3A_uc001agb.2_Silent_p.F380F	NM_018188	NP_060658	Q9NVI7	ATD3A_HUMAN	Homo sapiens ATPase family, AAA domain containing 3A (ATAD3A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	507							ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(4)|kidney(6)|large_intestine(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-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;1.12e-36)|OV - Ovarian serous cystadenocarcinoma(86;2.18e-22)|Colorectal(212;0.000164)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00233)|BRCA - Breast invasive adenocarcinoma(365;0.00469)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0347)|Lung(427;0.147)		CAGAGCAGTTCGACTGGGCCA	0.597000														36			13		0	0	0.00136819	0	0
FCN1	2219	broad.mit.edu	37	9	137806235	137806235	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:137806235C>T	uc004cfi.3	-	3	392	c.303G>A	c.(301-303)gaG>gaA	p.E101E		NM_002003	NP_001994	O00602	FCN1_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA.	101					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding	p.G100E(1)		endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		GCTCACCTTTCTCTCCACGCA	0.632000														18			9		0	0	0.000673444	0	0
PMFBP1	83449	broad.mit.edu	37	16	72160027	72160027	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:72160027G>A	uc002fcc.4	-	14	2280	c.2108C>T	c.(2107-2109)gCc>gTc	p.A703V	PMFBP1_uc002fcd.3_Missense_Mutation_p.A698V|PMFBP1_uc002fce.3_Intron|PMFBP1_uc002fcf.3_Missense_Mutation_p.A553V|PMFBP1_uc010cgo.1_5'UTR	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	703										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CTTCTGAAGGGCTATCTTTAA	0.507000														63			14		0	0	0.000422831	0	0
SLC25A27	9481	broad.mit.edu	37	6	46630223	46630223	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:46630223G>A	uc003oyh.3	+	3	772	c.494G>A	c.(493-495)gGa>gAa	p.G165E	SLC25A27_uc011dwb.2_Missense_Mutation_p.G165E|SLC25A27_uc003oyg.3_Missense_Mutation_p.G165E|SLC25A27_uc011dwc.2_Missense_Mutation_p.G79E|SLC25A27_uc003oyi.3_Missense_Mutation_p.G95E	NM_004277	NP_004268	O95847	UCP4_HUMAN	Homo sapiens solute carrier family 25, member 27 (SLC25A27), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	165					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			AAACTGGAAGGAAAACCATTG	0.403000														61			9		0	0	0.000274275	0	0
CYP4Z1	199974	broad.mit.edu	37	1	47533301	47533301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:47533301C>T	uc001cqu.1	+	0	142	c.139C>T	c.(139-141)Cct>Tct	p.P47S		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	47						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						GCACCTGTTTCCTGCACCCCC	0.488000														27			7		0	0	0.000978159	0	0
NUB1	51667	broad.mit.edu	37	7	151046258	151046259	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:151046258_151046259GG>AA	uc003wjx.3	+	2	305_306	c.289_290GG>AA	c.(289-291)gga>AAa	p.G97K	NUB1_uc022aqc.1_Missense_Mutation_p.G97K|NUB1_uc003wjw.3_Missense_Mutation_p.G73K|NUB1_uc003wjy.3_Non-coding_Transcript	NM_001243351	NP_001230280	Q9Y5A7	NUB1_HUMAN	Homo sapiens negative regulator of ubiquitin-like proteins 1 (NUB1), transcript variant 1, mRNA.	73					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GCGTGGAACAGGAAATGACAAT	0.381000														223			27		0	0	6.4e-05	0	0
C3orf20	84077	broad.mit.edu	37	3	14763165	14763166	+	Missense_Mutation	DNP	TG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:14763165_14763166TG>AA	uc003byy.3	+	9	1892_1893	c.1440_1441TG>AA	c.(1438-1443)aatgag>aaAAag	p.480_481NE>KK	C3orf20_uc003byz.3_Missense_Mutation_p.358_359NE>KK|C3orf20_uc003bza.3_Missense_Mutation_p.358_359NE>KK|C3orf20_uc003bzb.1_5'UTR	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	480						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TACAGGTGAATGAGGAAATGAA	0.515000														41			11		0	0	6.4e-05	0	0
ATP1A2	477	broad.mit.edu	37	1	160106440	160106440	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:160106440G>A	uc001fvc.3	+	18	2776	c.2644G>A	c.(2644-2646)Gga>Aga	p.G882R	ATP1A2_uc001fvb.2_Missense_Mutation_p.G882R|ATP1A2_uc001fvd.3_Missense_Mutation_p.G601R	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	882					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			ACGGCTACTGGGAATCCGCCT	0.557000														36			11		0	0	0.000978159	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171302	207171302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:207171302G>A	uc002vbp.2	+	4	2300	c.2050G>A	c.(2050-2052)Gaa>Aaa	p.E684K		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	684							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						TCAAGTAGCCGAAATAGAGCG	0.443000														22			5		0	0	0.000602214	0	0
RABL3	285282	broad.mit.edu	37	3	120417366	120417366	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:120417366C>T	uc003edx.3	-	4	468	c.438G>A	c.(436-438)ggG>ggA	p.G146G		NM_173825	NP_776186	Q5HYI8	RABL3_HUMAN	Homo sapiens RAB, member of RAS oncogene family-like 3 (RABL3), mRNA.	146	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		CCAGTTTAGTCCCTATTACCA	0.363000														204			48		0	0	0.000781405	0	0
ZZEF1	23140	broad.mit.edu	37	17	3975958	3975958	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:3975958G>A	uc002fxe.3	-	24	3842	c.3778C>T	c.(3778-3780)Cca>Tca	p.P1260S	ZZEF1_uc002fxj.1_5'Flank	NM_015113	NP_055928	O43149	ZZEF1_HUMAN	Homo sapiens zinc finger, ZZ-type with EF-hand domain 1 (ZZEF1), mRNA.	1260							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TCCAACTCTGGACAAACCTGA	0.453000														27			21		0	0	0.00121646	0	0
DGKB	1607	broad.mit.edu	37	7	14613939	14613939	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:14613939G>A	uc003ssz.3	-	18	1858	c.1671C>T	c.(1669-1671)atC>atT	p.I557I	DGKB_uc011jxt.2_Silent_p.I538I|DGKB_uc003sta.3_Silent_p.I557I|DGKB_uc011jxu.2_Silent_p.I556I	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	557	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TGTCCAACATGATTTCTGTGC	0.368000														153			26		0	0	0.000586117	0	0
RNASE11	122651	broad.mit.edu	37	14	21052493	21052493	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:21052493C>T	uc010ahw.3	-	2	477	c.141G>A	c.(139-141)caG>caA	p.Q47Q	RNASE11_uc010ahv.3_Silent_p.Q47Q|RNASE11_uc010ahx.3_Silent_p.Q47Q|RNASE11_uc001vxs.3_Silent_p.Q47Q|RNASE11_uc021rnu.1_Silent_p.Q47Q	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	Homo sapiens ribonuclease, RNase A family, 11 (non-active) (RNASE11), mRNA.	47						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		TCTCAATGGTCTGTTTTTCTT	0.368000														123			32		0	0	0.000692331	0	0
ACOXL	55289	broad.mit.edu	37	2	111666426	111666426	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:111666426G>A	uc010yxk.1	+	10	1073	c.849G>A	c.(847-849)caG>caA	p.Q283Q	ACOXL_uc021vmm.1_Silent_p.Q106Q|ACOXL_uc021vmn.1_Silent_p.Q106Q	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	283					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ACCAAACACAGACCCTGCGGC	0.532000														35			28		0	0	0.00283554	0	0
TRIP13	9319	broad.mit.edu	37	5	896848	896848	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:896848T>G	uc003jbr.3	+	2	472	c.327T>G	c.(325-327)agT>agG	p.S109R	TRIP13_uc010ite.2_Missense_Mutation_p.S109R	NM_004237	NP_004228	Q15645	PCH2_HUMAN	Homo sapiens thyroid hormone receptor interactor 13 (TRIP13), transcript variant 1, mRNA.	109					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GCCCCAGCAGTGAAAATCTGG	0.478000														45			17		0	0	0.00121646	0	0
ALOX5	240	broad.mit.edu	37	10	45938633	45938633	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:45938633G>A	uc001jce.3	+	9	1519	c.1420G>A	c.(1420-1422)Gac>Aac	p.D474N	ALOX5_uc009xmt.3_Missense_Mutation_p.D442N|ALOX5_uc010qfg.2_Missense_Mutation_p.D474N|ALOX5_uc021ppr.1_Intron	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	474	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	CTACCGGGACGACGGGCTCCT	0.667000														61			15		0	0	0.00121646	0	0
IFT172	26160	broad.mit.edu	37	2	27680767	27680767	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:27680767G>C	uc002rku.3	-	27	3103	c.3052C>G	c.(3052-3054)Cgc>Ggc	p.R1018G		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	1018					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CCTACCAGGCGGATCATGTCA	0.507000														36			9		0	0	0.000274275	0	0
RIOK1	83732	broad.mit.edu	37	6	7403054	7403054	+	Missense_Mutation	SNP	C	T	T	rs138314843		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:7403054C>T	uc003mxn.3	+	7	865	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C	RIOK1_uc003mxm.1_Missense_Mutation_p.R127C|RIOK1_uc003mxo.3_5'UTR	NM_031480	NP_694550	Q9BRS2	RIOK1_HUMAN	Homo sapiens RIO kinase 1 (yeast) (RIOK1), transcript variant 1, mRNA.	231	Protein kinase.						ATP binding|protein serine/threonine kinase activity	p.R224C(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					TTCAAGATTTCGTCATGGCTA	0.318000														69			10		0	0	0.00136819	0	0
TJP3	27134	broad.mit.edu	37	19	3735609	3735609	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:3735609C>T	uc010xhv.2	+	7	1131	c.1131C>T	c.(1129-1131)acC>acT	p.T377T	TJP3_uc010xhs.2_Silent_p.T344T|TJP3_uc010xht.2_Silent_p.T308T|TJP3_uc010xhu.2_Silent_p.T353T|TJP3_uc010xhw.2_Silent_p.T363T	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	358						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		ATTCCAGAACCATCTCGGAAC	0.567000														38			33		0	0	0.000814825	0	0
MASP2	10747	broad.mit.edu	37	1	11097842	11097842	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:11097842G>A	uc001aru.3	-	6	948	c.916C>T	c.(916-918)Cca>Tca	p.P306S		NM_006610	NP_006601	O00187	MASP2_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.	306	Sushi 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity	p.A305P(1)		biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		CCATTAGGTGGCGCCATCGGA	0.512000											OREG0013096	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		70			12		0	0	0.00244969	0	0
NOV	4856	broad.mit.edu	37	8	120435357	120435357	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:120435357C>T	uc003yoq.2	+	4	1280	c.1059C>T	c.(1057-1059)acC>acT	p.T353T		NM_002514	NP_002505	P48745	NOV_HUMAN	Homo sapiens nephroblastoma overexpressed gene (NOV), mRNA.	353					regulation of cell growth		growth factor activity|insulin-like growth factor binding	p.T353A(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGAAGACTACCAGAGGGAAAA	0.488000														81			30		0	0	0.0024448	0	0
KCNG4	93107	broad.mit.edu	37	16	84270731	84270731	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:84270731C>T	uc010voc.2	-	1	482	c.361G>A	c.(361-363)Ggg>Agg	p.G121R	KCNG4_uc002fhu.1_Missense_Mutation_p.G121R	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	121						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.G121G(3)|p.F120F(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						ACGATCACCCCGAAGGCGCTG	0.622000														9			8		0	0	0.000157383	0	0
PPYR1	5540	broad.mit.edu	37	10	47086898	47086898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:47086898G>A	uc001jee.3	+	2	534	c.115G>A	c.(115-117)Gac>Aac	p.D39N	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.D39N|PPYR1_uc021ppu.1_Missense_Mutation_p.D39N	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	39					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGATTCCGTGGACGTGATGGT	0.532000														94			10		0	0	0.00136819	0	0
NRD1	4898	broad.mit.edu	37	1	52283802	52283802	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:52283802G>A	uc001ctc.4	-	11	1823	c.1501C>T	c.(1501-1503)Cca>Tca	p.P501S	NRD1_uc009vzb.3_Missense_Mutation_p.P196S|NRD1_uc001cte.3_Missense_Mutation_p.P369S|NRD1_uc001ctd.4_Missense_Mutation_p.P433S|NRD1_uc001ctf.2_Missense_Mutation_p.P433S|NRD1_uc010ong.1_Non-coding_Transcript|NRD1_uc009vzc.1_Missense_Mutation_p.P301S	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	432					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTTCTGATTGGAACAACTAAA	0.323000														28			8		0	0	0.000157383	0	0
TTC5	91875	broad.mit.edu	37	14	20767022	20767022	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:20767022G>A	uc001vwt.3	-	4	630	c.573C>T	c.(571-573)tcC>tcT	p.S191S	TTC5_uc001vwu.3_Silent_p.S48S	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Homo sapiens tetratricopeptide repeat domain 5 (TTC5), mRNA.	191					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		AGAAGTAAAGGGAAAGATATG	0.413000														38			10		0	0	0.00136819	0	0
LRP2	4036	broad.mit.edu	37	2	170058349	170058349	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:170058349G>A	uc002ues.3	-	43	8454	c.8241C>T	c.(8239-8241)acC>acT	p.T2747T		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2747	LDL-receptor class A 17.				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)	CATTGGCACAGGTGAAGGCTG	0.448000														26			13		0	0	0.000308642	0	0
TEDDM1	127670	broad.mit.edu	37	1	182368920	182368920	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:182368920G>A	uc001gpe.3	-	0	832	c.701C>T	c.(700-702)aCt>aTt	p.T234I		NM_172000	NP_741997	Q5T9Z0	TEDM1_HUMAN	Homo sapiens transmembrane epididymal protein 1 (TEDDM1), mRNA.	234						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						TTTGGGCCCAGTCAGCTTCAA	0.488000														38			8		0	0	0.000274275	0	0
DDX11	1663	broad.mit.edu	37	12	31244760	31244760	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:31244760C>T	uc001rjt.1	+	9	1448	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	DDX11_uc010sjx.1_Non-coding_Transcript|DDX11_uc001rjr.1_Silent_p.I399I|DDX11_uc001rjs.1_Silent_p.I399I|DDX11_uc001rju.1_Silent_p.I77I|DDX11_uc001rjv.1_Silent_p.I399I|DDX11_uc001rjw.1_Silent_p.I373I|DDX11_uc001rjx.1_Silent_p.I77I|DDX11_uc009zjn.1_Non-coding_Transcript	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	399	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|S phase of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|RNA binding|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ACAACCTGATCGACACCATCA	0.667000										Multiple Myeloma(12;0.14)				39			7		0	0	0.000157383	0	0
HOXA3	3200	broad.mit.edu	37	7	27148297	27148297	+	Missense_Mutation	SNP	G	A	A	rs144351903		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:27148297G>A	uc011jzl.2	-	2	769	c.569C>T	c.(568-570)tCg>tTg	p.S190L	HOXA3_uc003syk.3_Missense_Mutation_p.S190L	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	190					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GCGCTTGGACGAAGCCTGCCC	0.716000														23			6		0	0	0.00198382	0	0
COBLL1	22837	broad.mit.edu	37	2	165551016	165551016	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:165551016C>T	uc002ucp.3	-	11	3222	c.3000G>A	c.(2998-3000)caG>caA	p.Q1000Q	COBLL1_uc002ucq.3_Silent_p.Q962Q|COBLL1_uc010zcw.2_Silent_p.Q1067Q|COBLL1_uc010zcx.2_Silent_p.Q1008Q|COBLL1_uc002ucn.3_Silent_p.Q428Q|COBLL1_uc002uco.3_Silent_p.Q731Q	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	1038										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						GTGTGGATACCTGACTAGCAG	0.473000														40			11		0	0	0.000422831	0	0
PIK3R1	5295	broad.mit.edu	37	5	67592093	67592093	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:67592093C>T	uc003jva.3	+	14	2489	c.1909C>T	c.(1909-1911)Ctg>Ttg	p.L637L	PIK3R1_uc003jvc.3_Silent_p.L337L|PIK3R1_uc003jvd.3_Silent_p.L367L|PIK3R1_uc003jve.3_Silent_p.L316L|PIK3R1_uc021xzn.1_Silent_p.L274L	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	637	SH2 2.				T cell costimulation|T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)|p.N636fs*26(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AGCTGAAAACCTGTTGCGAGG	0.473000			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)				72			19		0	0	0.000958276	0	0
MLL	4297	broad.mit.edu	37	11	118353184	118353184	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:118353184C>T	uc001pta.3	+	7	4083	c.4060C>T	c.(4060-4062)Cct>Tct	p.P1354S	MLL_uc001ptb.3_Missense_Mutation_p.P1354S|MLL_uc001pte.1_Non-coding_Transcript|MLL_uc009zab.1_Intron	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	1354					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CCCAAGTATCCCTGTAAAACA	0.403000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									24			27		0	0	0.00178596	0	0
COL14A1	7373	broad.mit.edu	37	8	121215985	121215985	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:121215985C>T	uc003yox.3	+	8	1180	c.915C>T	c.(913-915)atC>atT	p.I305I	COL14A1_uc003yoy.3_5'UTR|COL14A1_uc010mde.1_5'UTR	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	305	VWFA 1.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.I305I(2)		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)			TGCAGGAGATCGCCTCTGAAC	0.498000														35			6		0	0	0.00116845	0	0
EMILIN2	84034	broad.mit.edu	37	18	2885025	2885025	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:2885025G>A	uc002kln.3	+	2	480	c.321G>A	c.(319-321)tgG>tgA	p.W107*		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	107	EMI.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AGTTGGAATGGAGGTGCTGTC	0.537000														56			16		0	0	0.00074312	0	0
ATP2C2	9914	broad.mit.edu	37	16	84472843	84472844	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:84472843_84472844GG>AA	uc010chj.3	+	11	1147_1148	c.1058_1059GG>AA	c.(1057-1059)cgg>cAA	p.R353Q	ATP2C2_uc002fhx.3_Missense_Mutation_p.R353Q|ATP2C2_uc002fhy.3_Missense_Mutation_p.R370Q|ATP2C2_uc002fhz.3_Missense_Mutation_p.R202Q	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	353					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GGAGTGCTGCGGATGGCCAAGA	0.574000														26			7		0	0	6.4e-05	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135888228	135888228	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:135888228C>T	uc010fnf.3	+	12	1216	c.1173C>T	c.(1171-1173)atC>atT	p.I391I	RAB3GAP1_uc002tuj.3_Silent_p.I391I|RAB3GAP1_uc010fng.3_Silent_p.I216I|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	391						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AGAAGAAAATCCGAAAACACA	0.358000														51			34		0	0	0.000814825	0	0
GDF10	2662	broad.mit.edu	37	10	48426745	48426745	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:48426745T>C	uc001jfb.3	-	2	1690	c.1262A>G	c.(1261-1263)aAc>aGc	p.N421S	GDF10_uc009xnp.3_Missense_Mutation_p.N420S	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	421					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGTGGCATGGTTGGATGGACG	0.592000											OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			6		0	0	0.00116845	0	0
MED12	9968	broad.mit.edu	37	X	70339657	70339657	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:70339657C>T	uc004dyy.3	+	2	525	c.326C>T	c.(325-327)tCc>tTc	p.S109F	MED12_uc011mpq.1_Missense_Mutation_p.S109F|MED12_uc004dyz.3_Missense_Mutation_p.S109F|MED12_uc004dza.3_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	109					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ACTGCACGATCCCAGAGTGCC	0.493000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome							10			8		0	0	0.000442599	0	0
LIMCH1	22998	broad.mit.edu	37	4	41648236	41648236	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:41648236G>A	uc003gvz.4	+	15	2767	c.2350G>A	c.(2350-2352)Gaa>Aaa	p.E784K	LIMCH1_uc003gwe.4_Missense_Mutation_p.E399K|LIMCH1_uc003gvu.4_Missense_Mutation_p.E399K|LIMCH1_uc003gvv.4_Missense_Mutation_p.E399K|LIMCH1_uc003gvw.4_Missense_Mutation_p.E399K|LIMCH1_uc003gvx.4_Missense_Mutation_p.E387K|LIMCH1_uc003gvy.4_Missense_Mutation_p.E228K|LIMCH1_uc003gwa.4_Missense_Mutation_p.E240K|LIMCH1_uc011byu.2_Missense_Mutation_p.E233K|LIMCH1_uc003gwc.4_Missense_Mutation_p.E245K|LIMCH1_uc003gwd.4_Missense_Mutation_p.E233K|LIMCH1_uc011byv.2_Missense_Mutation_p.E150K	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	399	Glu-rich.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						ACTGGCTGGAGAAGATGGGAC	0.388000														44			10		0	0	0.000978159	0	0
ZNF148	7707	broad.mit.edu	37	3	124951262	124951262	+	Missense_Mutation	SNP	G	A	A	rs137930153		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:124951262G>A	uc003ehx.4	-	8	2794	c.2308C>T	c.(2308-2310)Ccc>Tcc	p.P770S	SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.P770S|ZNF148_uc010hsa.3_Missense_Mutation_p.P770S|ZNF148_uc003eia.4_Missense_Mutation_p.P770S|ZNF148_uc003ehy.3_Missense_Mutation_p.P107S	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	770					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	p.P770S(2)		breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTCACCAAGGGAAATTCTGAA	0.408000														24			8		0	0	0.000442599	0	0
C20orf79	140856	broad.mit.edu	37	20	18794539	18794539	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:18794539C>T	uc002wrk.3	+	0	170	c.80C>T	c.(79-81)tCa>tTa	p.S27L	C20orf78_uc002wrj.2_Intron	NM_178483	NP_848578	Q9UJQ7	CT079_HUMAN	Homo sapiens chromosome 20 open reading frame 79 (C20orf79), mRNA.	27							sterol binding			NS(1)|breast(1)|large_intestine(2)|lung(4)|skin(4)	12						GTTCTGGGTTCAGTTCCAGAA	0.522000														36			8		0	0	0.000274275	0	0
KIAA0232	9778	broad.mit.edu	37	4	6863659	6863659	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:6863659C>T	uc003gjr.4	+	6	2013	c.1550C>T	c.(1549-1551)tCc>tTc	p.S517F	KIAA0232_uc003gjq.4_Missense_Mutation_p.S517F	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	517							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						ATTGATCAATCCATGTTGGAT	0.388000														33			9		0	0	0.000274275	0	0
SCN7A	6332	broad.mit.edu	37	2	167284355	167284355	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:167284355C>T	uc002udu.2	-	16	2926	c.2796G>A	c.(2794-2796)gaG>gaA	p.E932E	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.	932					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						ACCAATTGTTCTCTACAATCT	0.463000														11			4		0	0	0.00024832	0	0
CD1E	913	broad.mit.edu	37	1	158325285	158325285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158325285G>A	uc001fse.3	+	2	844	c.551G>A	c.(550-552)aGc>aAc	p.S184N	CD1E_uc010pid.2_Missense_Mutation_p.S182N|CD1E_uc010pie.2_Missense_Mutation_p.S85N|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.S184N|CD1E_uc001fsf.3_Missense_Mutation_p.S184N|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Missense_Mutation_p.S85N|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Intron|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.S184N|CD1E_uc001frz.3_Intron|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	184					antigen processing and presentation|immune response	Golgi membrane|early endosome|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					ATACTGCAAAGCCTTCTTGGT	0.527000														27			6		0	0	0.00198382	0	0
CIC	23152	broad.mit.edu	37	19	42796853	42796853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:42796853C>T	uc002otf.1	+	13	3351	c.3311C>T	c.(3310-3312)tCc>tTc	p.S1104F		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	1104	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCACCCACCTCCTCAGCACCC	0.667000			"""Mis, F, S"""		oligodendroglioma									37			15		0	0	0.000566183	0	0
PLCB1	23236	broad.mit.edu	37	20	8755294	8755294	+	Silent	SNP	G	A	A	rs139859188	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:8755294G>A	uc002wnb.3	+	26	3042	c.3039G>A	c.(3037-3039)caG>caA	p.Q1013Q	PLCB1_uc010zrb.1_Silent_p.Q912Q|PLCB1_uc002wna.3_Silent_p.Q1013Q|PLCB1_uc002wnc.1_Silent_p.Q912Q|PLCB1_uc002wnd.1_Silent_p.Q590Q	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	1013					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.Q1013H(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACAAACAACAGCAGCAGCTGC	0.418000														65			8		0	0	0.000673444	0	0
ASS1	445	broad.mit.edu	37	9	133370261	133370261	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:133370261G>A	uc010mza.3	+	13	1714	c.1206G>A	c.(1204-1206)tgG>tgA	p.W402*	ASS1_uc004bzm.3_Nonsense_Mutation_p.W326*|ASS1_uc004bzn.3_Nonsense_Mutation_p.W326*	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	326					arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TAGGTTTCTGGCACAGCCCTG	0.597000														18			4		0	0	0.000602214	0	0
FGF13	2258	broad.mit.edu	37	X	137715094	137715094	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:137715094C>T	uc004fam.3	-	4	1317	c.655G>A	c.(655-657)Gga>Aga	p.G219R	FGF13_uc004fan.3_Missense_Mutation_p.G166R|FGF13_uc011mwi.2_Missense_Mutation_p.G200R|FGF13_uc004faq.3_Missense_Mutation_p.G229R|FGF13_uc004far.3_Missense_Mutation_p.G200R|FGF13_uc011mwj.2_Missense_Mutation_p.G229R|FGF13_uc011mwk.2_Missense_Mutation_p.G173R	NM_004114	NP_004105	Q92913	FGF13_HUMAN	Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 1, mRNA.	219					MAPKKK cascade|cell-cell signaling|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GTCCCGCTTCCAGATCGGGAG	0.517000														21			11		0	0	0.000978159	0	0
EHD3	30845	broad.mit.edu	37	2	31484508	31484508	+	Missense_Mutation	SNP	G	A	A	rs138474287		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:31484508G>A	uc002rnu.3	+	4	1617	c.1009G>A	c.(1009-1011)Gag>Aag	p.E337K	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	337					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CAACCTGGCCGAGATCTATGG	0.562000														45			15		0	0	0.000566183	0	0
ARRB2	409	broad.mit.edu	37	17	4623752	4623752	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:4623752C>T	uc010vsg.2	+	12	1357	c.1129C>T	c.(1129-1131)Ccc>Tcc	p.P377S	ARRB2_uc002fyj.3_Missense_Mutation_p.P356S|ARRB2_uc002fyk.3_Missense_Mutation_p.P341S|ARRB2_uc002fyl.3_Missense_Mutation_p.P356S|ARRB2_uc002fym.3_Missense_Mutation_p.P341S|ARRB2_uc002fyn.3_Missense_Mutation_p.P164S	NM_004313	NP_004304	P32121	ARRB2_HUMAN	Homo sapiens arrestin, beta 2 (ARRB2), transcript variant 1, mRNA.	356	Interaction with AP2B1.|Interaction with TRAF6.				G-protein coupled receptor internalization|cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|negative regulation of NF-kappaB transcription factor activity|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CATCCCCCTCCCCAGACCCCA	0.627000														48			13		0	0	0.000308642	0	0
CNTN3	5067	broad.mit.edu	37	3	74411160	74411160	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:74411160C>T	uc003dpm.1	-	9	1325	c.1245G>A	c.(1243-1245)atG>atA	p.M415I		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	415	Ig-like C2-type 5.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCAACTTCTTCATTGGATTCT	0.473000														35			10		0	0	0.000978159	0	0
LAMA3	3909	broad.mit.edu	37	18	21526172	21526172	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:21526172G>A	uc002kuq.3	+	69	9361	c.9275G>A	c.(9274-9276)gGa>gAa	p.G3092E	LAMA3_uc002kur.3_Missense_Mutation_p.G3036E|LAMA3_uc002kus.4_Missense_Mutation_p.G1483E|LAMA3_uc002kut.4_Missense_Mutation_p.G1427E	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	3092	Laminin G-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCCGGGAGGGAAGTTTGCCT	0.493000														77			9		0	0	0.000673444	0	0
PROKR2	128674	broad.mit.edu	37	20	5294653	5294653	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:5294653C>T	uc010zqw.2	-	0	371	c.363G>A	c.(361-363)tgG>tgA	p.W121*	PROKR2_uc010zqx.2_Nonsense_Mutation_p.W121*|PROKR2_uc010zqy.2_Nonsense_Mutation_p.W121*|AX746654_uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	121						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.W121*(1)		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						GGCCATGCTCCCAGGAGAGCT	0.592000										HNSCC(71;0.22)				30			7		0	0	0.000157383	0	0
MUC5B	727897	broad.mit.edu	37	11	1268528	1268528	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:1268528C>T	uc001lta.3	+	30	10477	c.10418C>T	c.(10417-10419)tCg>tTg	p.S3473L		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3473	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.S3473S(1)		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)		GCCTGGACTTCGGCCACCTCG	0.672000														16			4		0	0	0.00024832	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21450370	21450370	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:21450370C>T	uc001rer.3	-	7	1294	c.1043G>A	c.(1042-1044)gGa>gAa	p.G348E	SLCO1A2_uc010siq.2_Missense_Mutation_p.G216E|SLCO1A2_uc001res.3_Missense_Mutation_p.G348E|SLCO1A2_uc010sio.2_Missense_Mutation_p.G216E|SLCO1A2_uc010sip.2_Missense_Mutation_p.G216E|SLCO1A2_uc001ret.3_Missense_Mutation_p.G346E|SLCO1A2_uc001reu.2_Missense_Mutation_p.G328E	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	348					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.G348*(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						AGATGATATTCCATATTGCTG	0.388000														30			4		0	0	0.00198382	0	0
OR5H15	403274	broad.mit.edu	37	3	97888248	97888248	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:97888248G>A	uc011bgu.2	+	0	705	c.705G>A	c.(703-705)agG>agA	p.R235R		NM_001005515	NP_001005515	A6NDH6	O5H15_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 15 (OR5H15), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						AGGGTGTAAGGAAAGCCTTTT	0.423000														19			16		0	0	0.000422831	0	0
TMEM108	66000	broad.mit.edu	37	3	133098601	133098601	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:133098601C>T	uc003epi.3	+	3	316	c.46C>T	c.(46-48)Ctg>Ttg	p.L16L	TMEM108_uc003eph.3_Silent_p.L16L|TMEM108_uc003epj.1_Silent_p.L16L|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	16						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCAAGGTTTCCTGCTGATCTT	0.547000														164			35		0	0	0.00195071	0	0
RASAL1	8437	broad.mit.edu	37	12	113565983	113565983	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:113565983C>T	uc001tun.2	-	4	424	c.123_splice	c.e4-1	p.R41_splice	RASAL1_uc010syp.2_Splice_Site_p.R41_splice|RASAL1_uc001tul.3_Splice_Site_p.R41_splice|RASAL1_uc001tum.2_Splice_Site_p.R41_splice|RASAL1_uc010syq.2_Splice_Site_p.R41_splice|RASAL1_uc001tuo.4_Splice_Site_p.R41_splice|RASAL1_uc010syr.2_Splice_Site_p.R41_splice	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	41	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|metal ion binding|phospholipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CAGTAGCTGTCCTGCAAAAGG	0.617000														40			12		0	0	0.000978159	0	0
PTPN14	5784	broad.mit.edu	37	1	214567116	214567116	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:214567116T>C	uc001hkk.2	-	9	1504	c.851A>G	c.(850-852)gAt>gGt	p.D284G	PTPN14_uc021piy.1_Missense_Mutation_p.D48G|PTPN14_uc010pty.2_Missense_Mutation_p.D185G	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	284	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ATTTTCGATATCATCCTTGGA	0.348000														79			17		0	0	0.000958276	0	0
TTN	7273	broad.mit.edu	37	2	179542556	179542556	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179542556C>T	uc021vsy.1	-	142	30576	c.30351G>A	c.(30349-30351)gaG>gaA	p.E10117E	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.E6778E|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11044	Glu-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)			GTAGAACTTCCTCTTCAGGAA	0.428000														51			9		0	0	0.000673444	0	0
TCRBV14S1	0	broad.mit.edu	37	7	142423617	142423617	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142423617G>A	uc010lol.1	+	1	306	c.273G>A	c.(271-273)agG>agA	p.R91R	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TRBV23-1_uc022ans.1_Intron|TCRBV14S1_uc011ksj.1_Non-coding_Transcript|TCRBV14S1_uc022ant.1_Non-coding_Transcript					SubName: Full=V_segment translation product; Flags: Fragment;																		AAGAGAAGAGGAATTTCCCCC	0.512000														22			5		0	0	0.00116845	0	0
LIPG	9388	broad.mit.edu	37	18	47108779	47108779	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:47108779G>A	uc002ldv.3	+	6	1336	c.1084G>A	c.(1084-1086)Gga>Aga	p.G362R	LIPG_uc010xdh.2_Missense_Mutation_p.G288R	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	Homo sapiens lipase, endothelial (LIPG), mRNA.	362	PLAT.				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CAAGAACATGGGAGAAATTGA	0.443000														38			11		0	0	0.000978159	0	0
TNXB	7148	broad.mit.edu	37	6	32057124	32057124	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:32057124C>T	uc003nzl.2	-	4	2593	c.2391G>A	c.(2389-2391)cgG>cgA	p.R797R		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	749	Fibronectin type-III 1.				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						AGCTTGGAACCCGTGCTGTGA	0.632000														213			32		0	0	0.000814825	0	0
LOC649330	649330	broad.mit.edu	37	1	12907305	12907305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:12907305C>T	uc010obf.2	-	1	1064	c.838G>A	c.(838-840)Gga>Aga	p.G280R	LOC649330_uc009vno.2_Missense_Mutation_p.G280R	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	280							nucleic acid binding|nucleotide binding										TCATCCTCTCCTTCCTCAGCC	0.483000														152			11		0	0	0.00185496	0	0
CUX1	1523	broad.mit.edu	37	7	101840329	101840329	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:101840329C>T	uc003uys.4	+	14	1798	c.1671C>T	c.(1669-1671)tcC>tcT	p.S557S	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Silent_p.S546S	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	546					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GGAGCGTCTCCGAGGGCGAGG	0.517000														90			13		0	0	0.00185496	0	0
TMEM74	157753	broad.mit.edu	37	8	109797168	109797168	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:109797168C>T	uc003ymy.1	-	1	265	c.160G>A	c.(160-162)Gag>Aag	p.E54K	TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Missense_Mutation_p.E54K	NM_153015	NP_694560	Q96NL1	TMM74_HUMAN	Homo sapiens transmembrane protein 74 (TMEM74), mRNA.	54					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			CCTTCCATCTCGGTTGCTCTT	0.537000														77			11		0	0	0.00136819	0	0
SLC5A11	115584	broad.mit.edu	37	16	24920276	24920276	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:24920276G>A	uc002dmu.3	+	13	1740	c.1509G>A	c.(1507-1509)caG>caA	p.Q503Q	SLC5A11_uc002dms.3_Silent_p.Q439Q|SLC5A11_uc010vcd.2_Silent_p.Q468Q|SLC5A11_uc002dmt.3_Silent_p.Q347Q|SLC5A11_uc010vce.2_Silent_p.Q433Q|SLC5A11_uc010bxt.3_Silent_p.Q439Q|SLC5A11_uc002dmv.3_Silent_p.Q126Q	NM_052944	NP_443176	Q8WWX8	SC5AB_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 11 (SLC5A11), mRNA.	503					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity	p.V502L(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TTTACGTGCAGCCTCGATGCG	0.557000														28			9		0	0	0.000274275	0	0
XIRP2	129446	broad.mit.edu	37	2	168107021	168107021	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:168107021G>A	uc002udx.3	+	8	9208	c.9119G>A	c.(9118-9120)gGa>gAa	p.G3040E	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.G2865E|XIRP2_uc010fpq.3_Missense_Mutation_p.G2818E|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2865					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						TCCAAAACAGGAAAACCGGGA	0.318000														67			9		0	0	0.000442599	0	0
FLG	2312	broad.mit.edu	37	1	152283639	152283639	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152283639G>A	uc001ezu.1	-	2	3759	c.3723C>T	c.(3721-3723)gcC>gcT	p.A1241A	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1241	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCCCAAGAGGCAGCTTCAT	0.557000									Ichthyosis					102			61		0	0	0.000781405	0	0
PTCHD2	57540	broad.mit.edu	37	1	11585300	11585300	+	Silent	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:11585300C>G	uc001ash.4	+	11	2682	c.2544C>G	c.(2542-2544)tcC>tcG	p.S848S	PTCHD2_uc001asi.1_Silent_p.S848S	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	848					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		ACAGGCTCTCCCTCAATGCCA	0.592000														50			11		0	0	0.00136819	0	0
HAUS6	54801	broad.mit.edu	37	9	19058022	19058022	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:19058022G>A	uc003znk.3	-	15	2996	c.2743C>T	c.(2743-2745)Cca>Tca	p.P915S	HAUS6_uc011lmz.2_Missense_Mutation_p.P635S|HAUS6_uc022bdv.1_Missense_Mutation_p.P779S|HAUS6_uc003znl.1_Missense_Mutation_p.P779S	NM_017645	NP_060115	Q7Z4H7	HAUS6_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 6 (HAUS6), mRNA.	915					cell division|centrosome organization|mitosis|spindle assembly	HAUS complex|centrosome|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TGTTCCACTGGAGAAAACTTA	0.388000														15			32		0	0	0.00178596	0	0
HDAC9	9734	broad.mit.edu	37	7	18688140	18688140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:18688140C>T	uc003sui.3	+	9	1342	c.1301C>T	c.(1300-1302)tCa>tTa	p.S434L	HDAC9_uc003sue.3_Missense_Mutation_p.S431L|HDAC9_uc011jyd.2_Missense_Mutation_p.S431L|HDAC9_uc003suh.3_Missense_Mutation_p.S431L|HDAC9_uc003suj.3_Missense_Mutation_p.S390L|HDAC9_uc011jya.2_Missense_Mutation_p.S429L|HDAC9_uc003sua.1_Missense_Mutation_p.S409L|HDAC9_uc003sud.2_Missense_Mutation_p.S431L|HDAC9_uc011jyc.2_Missense_Mutation_p.S390L|HDAC9_uc011jyb.2_Missense_Mutation_p.S387L|HDAC9_uc003suf.2_Missense_Mutation_p.S462L|HDAC9_uc010kud.2_Missense_Mutation_p.S434L|HDAC9_uc011jye.2_Missense_Mutation_p.S403L|HDAC9_uc011jyf.2_Missense_Mutation_p.S354L|HDAC9_uc010kue.1_Missense_Mutation_p.S174L	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	431					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GAGAGAATTTCACCTGGCATT	0.473000														27			9		0	0	0.000673444	0	0
OR5A2	219981	broad.mit.edu	37	11	59189564	59189564	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:59189564G>A	uc010rkt.2	-	0	863	c.863C>T	c.(862-864)cCc>cTc	p.P288L		NM_001001954	NP_001001954	Q8NGI9	OR5A2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 2 (OR5A2), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						GTAGATGATGGGATTCACCAC	0.463000														11			4		0	0	0.00024832	0	0
ARHGAP20	57569	broad.mit.edu	37	11	110457015	110457015	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:110457015G>A	uc001pkz.1	-	12	1625	c.1340C>T	c.(1339-1341)tCa>tTa	p.S447L	ARHGAP20_uc001pky.1_Missense_Mutation_p.S424L|ARHGAP20_uc009yyb.1_Missense_Mutation_p.S411L|ARHGAP20_uc001pla.1_Missense_Mutation_p.S411L|ARHGAP20_uc001plb.2_5'UTR	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	447	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GAGATCTGATGAAAAAATACT	0.299000														113			34		0	0	0.00148497	0	0
RIC3	79608	broad.mit.edu	37	11	8148267	8148267	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:8148267G>A	uc010rbm.1	-	4	747	c.693C>T	c.(691-693)ttC>ttT	p.F231F	RIC3_uc001mgb.2_Silent_p.F41F|RIC3_uc010rbl.1_Silent_p.F153F|RIC3_uc001mgd.2_Silent_p.F203F|RIC3_uc001mgc.2_Silent_p.F202F|RIC3_uc009yfm.2_Intron|RIC3_uc001mge.2_Intron|RIC3_uc009yfn.2_Silent_p.F6F	NM_024557	NP_001193600	Q7Z5B4	RIC3_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 3 homolog (C. elegans) (RIC3), transcript variant 1, mRNA.	203						Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		ATCTGTCAATGAATTTTCCTT	0.443000														44			15		0	0	0.00074312	0	0
SELE	6401	broad.mit.edu	37	1	169697057	169697057	+	Missense_Mutation	SNP	C	T	T	rs143837593		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:169697057C>T	uc001ggm.4	-	8	1448	c.1291G>A	c.(1291-1293)Gat>Aat	p.D431N	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	431	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TGGACAGCATCGCATCTCACA	0.502000														43			11		0	0	0.00136819	0	0
ENPP1	5167	broad.mit.edu	37	6	132181527	132181527	+	Splice_Site	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:132181527G>A	uc011ecf.2	+	8	816	c.796_splice	c.e8-1	p.G266_splice	ENPP1_uc003qcy.3_5'Flank	NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	266	Phosphodiesterase.		G -> V (in ARHR2; rs121908248).		3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TCTTTTTTAGGGATTGTATCC	0.289000														20			10		0	0	0.000673444	0	0
DRD1	1812	broad.mit.edu	37	5	174869174	174869174	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:174869174G>A	uc003mcz.3	-	1	1874	c.929C>T	c.(928-930)tCc>tTc	p.S310F	DRD1_uc021yia.1_Missense_Mutation_p.S310F	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	310					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	AAAGGTGTTGGAATCAATGCA	0.463000														33			7		0	0	0.000157383	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290261	132290261	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:132290261C>T	uc002tta.3	+	4	835	c.783C>T	c.(781-783)atC>atT	p.I261I	CCDC74A_uc002ttb.3_Silent_p.I195I|CCDC74A_uc021vpq.1_Intron|CCDC74A_uc021vpr.1_Intron	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	261										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CCCCAATGATCCTGCCCCTTC	0.617000														37			6		0	0	0.00198382	0	0
C12orf76	400073	broad.mit.edu	37	12	110495058	110495059	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:110495058_110495059GG>AA	uc001tqd.1	-	3	599_600	c.234_235CC>TT	c.(232-237)ctccct>ctTTct	p.P79S	C12orf76_uc001tqe.1_Non-coding_Transcript|C12orf76_uc010sxx.1_Non-coding_Transcript|C12orf76_uc001tqf.1_Intron	NM_207435	NP_997318	Q8N812	CL076_HUMAN	Homo sapiens chromosome 12 open reading frame 76 (C12orf76), mRNA.	79										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						AGCTCTGCAGGGAGGATGTGCC	0.500000														25			9		0	0	6.4e-05	0	0
GPR139	124274	broad.mit.edu	37	16	20043082	20043082	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:20043082C>T	uc002dgu.1	-	1	1199	c.1037G>A	c.(1036-1038)gGa>gAa	p.G346E	GPR139_uc010vaw.1_Missense_Mutation_p.G253E	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	346						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						TATAGGTTTTCCATTTTTGTC	0.458000														58			10		0	0	0.00136819	0	0
SLC22A2	6582	broad.mit.edu	37	6	160671584	160671584	+	Silent	SNP	G	A	A	rs8177510		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:160671584G>A	uc003qtf.3	-	2	843	c.669C>T	c.(667-669)atC>atT	p.I223I	SLC22A2_uc003qth.2_Silent_p.I223I	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	223					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TCTTACTCAGGATGTAGCCTA	0.483000														40			15		0	0	0.00121646	0	0
ASCL3	56676	broad.mit.edu	37	11	8959625	8959625	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:8959625G>A	uc001mhd.1	-	1	144	c.84C>T	c.(82-84)tcC>tcT	p.S28S	ASCL3_uc021qdj.1_Silent_p.S28S	NM_020646	NP_065697	Q9NQ33	ASCL3_HUMAN	Homo sapiens achaete-scute complex homolog 3 (Drosophila) (ASCL3), mRNA.	27					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus	DNA binding			breast(1)|large_intestine(2)|lung(5)|stomach(1)	9				Epithelial(150;1.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0228)		CCAGATAGAAGGACCTGGTCA	0.547000														69			43		0	0	0.000781405	0	0
PTPRA	5786	broad.mit.edu	37	20	3002824	3002824	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:3002824C>T	uc010zqd.2	+	13	1636	c.1319C>T	c.(1318-1320)gCc>gTc	p.A440V	PTPRA_uc002whj.3_Missense_Mutation_p.A429V|PTPRA_uc002whk.3_Missense_Mutation_p.A420V|PTPRA_uc002whl.3_Missense_Mutation_p.A420V|PTPRA_uc002whm.3_Missense_Mutation_p.A196V|PTPRA_uc002whn.3_Missense_Mutation_p.A420V|PTPRA_uc002who.3_Missense_Mutation_p.A92V	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	429	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAGGTGAAGGCCTGTAACCCT	0.592000														53			12		0	0	0.000308642	0	0
ATP6V0A4	50617	broad.mit.edu	37	7	138453565	138453565	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:138453565C>T	uc003vuf.3	-	3	489	c.251G>A	c.(250-252)aGc>aAc	p.S84N	ATP6V0A4_uc003vug.3_Missense_Mutation_p.S84N|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.S84N	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	84					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGTCAGTGGGCTTTTCTCGAG	0.493000														43			5		0	0	0.00198382	0	0
PRKCG	5582	broad.mit.edu	37	19	54394986	54394986	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:54394986G>A	uc002qcq.1	+	5	870	c.588G>A	c.(586-588)gtG>gtA	p.V196V	PRKCG_uc010eqz.1_Silent_p.V196V|PRKCG_uc010yef.1_Silent_p.V196V|PRKCG_uc010yeg.1_Silent_p.V196V|PRKCG_uc010yeh.1_Silent_p.V83V|Mir_324_uc021vbc.1_5'Flank	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	196	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		ATCCCTATGTGAAACTGAAGC	0.517000														56			13		0	0	0.00136819	0	0
C20orf26	26074	broad.mit.edu	37	20	20071504	20071504	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:20071504G>A	uc002wru.3	+	6	697	c.583G>A	c.(583-585)Gat>Aat	p.D195N	C20orf26_uc010gcw.2_Missense_Mutation_p.D149N|C20orf26_uc010zse.2_Missense_Mutation_p.D195N|C20orf26_uc010zsf.1_Missense_Mutation_p.D195N	NM_015585	NP_056400	Q8NHU2	CT026_HUMAN	Homo sapiens chromosome 20 open reading frame 26 (C20orf26), transcript variant 1, mRNA.	195								p.D195N(2)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AGACCATGACGATCTCATGCC	0.438000														118			21		0	0	0.00229938	0	0
LCE1E	353135	broad.mit.edu	37	1	152759970	152759970	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152759970G>A	uc021ozg.1	+	0	195	c.195G>A	c.(193-195)ggG>ggA	p.G65G	LCE1E_uc001fan.3_Silent_p.G65G	NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	Homo sapiens late cornified envelope 1E (LCE1E), mRNA.	65	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGCTCTGGGGGCTGCTGCA	0.667000														46			7		0	0	0.000157383	0	0
ZNF222	7673	broad.mit.edu	37	19	44536174	44536174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:44536174C>T	uc002oye.3	+	3	562	c.467C>T	c.(466-468)cCt>cTt	p.P156L	ZNF284_uc010ejd.2_Intron|ZNF222_uc002oyc.3_Missense_Mutation_p.P116L|ZNF222_uc002oyd.3_Missense_Mutation_p.P62L	NM_001129996	NP_001123468	Q9UK12	ZN222_HUMAN	Homo sapiens zinc finger protein 222 (ZNF222), transcript variant 1, mRNA.	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				AGAGAAAAACCTTTCCAGGGT	0.388000														49			6		0	0	0.00116845	0	0
VPS41	27072	broad.mit.edu	37	7	38791813	38791813	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:38791813G>A	uc003tgy.3	-	21	1915	c.1889C>T	c.(1888-1890)cCc>cTc	p.P630L	VPS41_uc003tgz.3_Missense_Mutation_p.P605L|VPS41_uc010kxn.3_Missense_Mutation_p.P541L	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	630					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	Golgi-associated vesicle|HOPS complex|cytosol|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TCGGAGAAAGGGAAGTAAGTT	0.433000														99			13		0	0	0.00136819	0	0
CEP44	80817	broad.mit.edu	37	4	175231094	175231094	+	Silent	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:175231094T>C	uc010iro.2	+	7	1077	c.772T>C	c.(772-774)Tta>Cta	p.L258L	CEP44_uc003its.2_Non-coding_Transcript|CEP44_uc003itr.3_Silent_p.L258L	NM_001145314	NP_001138786	Q9C0F1	CEP44_HUMAN	Homo sapiens centrosomal protein 44kDa (CEP44), transcript variant 2, mRNA.	258						centrosome|midbody|spindle pole		p.R257S(1)		endometrium(2)|large_intestine(4)|lung(5)|stomach(1)	12						AGAGAAAAGGTTAGACTGTTT	0.348000														31			9		0	0	0.000978159	0	0
NTRK2	4915	broad.mit.edu	37	9	87570406	87570406	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:87570406G>A	uc004aoa.1	+	17	3036	c.2098G>A	c.(2098-2100)Gac>Aac	p.D700N	NTRK2_uc004any.1_Missense_Mutation_p.D700N|NTRK2_uc004anz.1_Missense_Mutation_p.D716N	NM_001018064	NP_001018074	Q16620	NTRK2_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 2 (NTRK2), transcript variant c, mRNA.	700	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						GATGTCCCGGGACGTGTACAG	0.587000										TSP Lung(25;0.17)				7			5		0	0	0.00198382	0	0
TMEM132A	54972	broad.mit.edu	37	11	60703676	60703676	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:60703676C>T	uc001nqi.3	+	10	2565	c.2372C>T	c.(2371-2373)aCc>aTc	p.T791I	TMEM132A_uc001nqj.3_Missense_Mutation_p.T790I	NM_017870	NP_060340	Q24JP5	T132A_HUMAN	Homo sapiens transmembrane protein 132A (TMEM132A), transcript variant 1, mRNA.	790	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					Golgi membrane|endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						ACAGAAGCCACCATGGGTGGT	0.677000														41			10		0	0	0.00136819	0	0
MUC16	94025	broad.mit.edu	37	19	9072091	9072091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9072091G>A	uc002mkp.3	-	2	15559	c.15355C>T	c.(15355-15357)Cct>Tct	p.P5119S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5121	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						TTTATAGAAGGAAAAATTTCC	0.453000														40			10		0	0	0.000673444	0	0
TMPRSS11D	9407	broad.mit.edu	37	4	68703983	68703983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:68703983C>T	uc003hdq.3	-	4	447	c.382G>A	c.(382-384)Gga>Aga	p.G128R	LOC550112_uc003hdl.4_Intron|TMPRSS11D_uc011caj.2_Missense_Mutation_p.G11R	NM_004262	NP_004253	O60235	TM11D_HUMAN	Homo sapiens transmembrane protease, serine 11D (TMPRSS11D), mRNA.	128	SEA.				proteolysis|respiratory gaseous exchange	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ATTGATGCTCCATTGTTATTT	0.328000														26			6		0	0	0.00116845	0	0
RAI2	10742	broad.mit.edu	37	X	17820124	17820124	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:17820124C>T	uc022btm.1	-	0	7	c.7G>A	c.(7-9)Gac>Aac	p.D3N	RAI2_uc004cyf.3_Missense_Mutation_p.D3N|RAI2_uc004cyg.3_Missense_Mutation_p.D3N|RAI2_uc011miy.2_Missense_Mutation_p.D3N|RAI2_uc022btl.1_Missense_Mutation_p.D3N|RAI2_uc004cyh.4_Missense_Mutation_p.D3N|RAI2_uc010nfa.3_Missense_Mutation_p.D3N	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	3					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GACTGCAGGTCGTCCATCACT	0.478000														56			20		0	0	0.00047179	0	0
UBE3A	7337	broad.mit.edu	37	15	25585310	25585310	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:25585310G>A	uc001zaq.3	-	12	3189	c.2429C>T	c.(2428-2430)aCg>aTg	p.T810M	SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Missense_Mutation_p.T787M|UBE3A_uc001zas.3_Missense_Mutation_p.T807M|UBE3A_uc001zat.3_Missense_Mutation_p.T787M	NM_000462	NP_570853	Q05086	UBE3A_HUMAN	Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA.	810	HECT.				brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		GTCTGTGCCCGTTGTAAACTG	0.383000														62			17		0	0	0.000566183	0	0
VN1R2	317701	broad.mit.edu	37	19	53761937	53761937	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:53761937G>A	uc002qbi.2	+	0	393	c.309G>A	c.(307-309)ggG>ggA	p.G103G		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	103					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		GAATCCTGGGGAATTTTTCAC	0.438000														15			10		0	0	0.000673444	0	0
RPRD1A	55197	broad.mit.edu	37	18	33606972	33606972	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:33606972T>A	uc002kzg.3	-	5	686	c.680A>T	c.(679-681)aAt>aTt	p.N227I	RPRD1A_uc002kze.1_Missense_Mutation_p.N191I|RPRD1A_uc010dmw.3_Missense_Mutation_p.N191I|RPRD1A_uc010dmx.3_Missense_Mutation_p.N227I	NM_018170	NP_060640	Q96P16	RPR1A_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 1A (RPRD1A), mRNA.	227										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(2)	12						CAATCTGCCATTGTAATCTGC	0.393000														71			22		0	0	0.00188189	0	0
SORCS3	22986	broad.mit.edu	37	10	106737116	106737116	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:106737116G>A	uc001kyi.1	+	3	1046	c.819G>A	c.(817-819)gaG>gaA	p.E273E		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	273						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)		GTGATCCTGAGATGGAGAGCA	0.393000														44			10		0	0	0.000978159	0	0
LGR5	8549	broad.mit.edu	37	12	71978225	71978225	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:71978225C>T	uc001swl.3	+	17	2483	c.2435C>T	c.(2434-2436)cCt>cTt	p.P812L	LGR5_uc001swm.3_Missense_Mutation_p.P788L|LGR5_uc021rar.1_Missense_Mutation_p.P740L|LGR5_uc001swn.1_Intron	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	812						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GTCCCACTTCCTGCATGTCTC	0.423000														284			59		0	0	0.000781405	0	0
FAT4	79633	broad.mit.edu	37	4	126336765	126336765	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:126336765C>A	uc003ifj.4	+	4	6647	c.6647C>A	c.(6646-6648)cCt>cAt	p.P2216H	FAT4_uc011cgp.2_Missense_Mutation_p.P514H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2216	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTCGCTAAACCTTTGGATAGA	0.463000														16			20		2.70639e-06	9.10381e-06	0.00229938	1	0
OR1S1	219959	broad.mit.edu	37	11	57983146	57983146	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:57983146G>A	uc010rkc.2	+	0	930	c.930G>A	c.(928-930)atG>atA	p.M310I		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				ATAAGGATATGAAAGGTGCCC	0.423000														52			10		0	0	0.000978159	0	0
PABPC1	26986	broad.mit.edu	37	8	101721719	101721719	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:101721719G>A	uc003yjs.1	-	7	1717	c.1213C>T	c.(1213-1215)Cct>Tct	p.P405S	PABPC1_uc011lhc.1_Missense_Mutation_p.P373S|PABPC1_uc011lhd.1_Missense_Mutation_p.P360S|PABPC1_uc003yjt.1_Missense_Mutation_p.P402S|PABPC1_uc003yju.2_Non-coding_Transcript	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	405					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TAACCTGAAGGAGGTGCTGGC	0.478000														91			16		0	0	0.00074312	0	0
MAK	4117	broad.mit.edu	37	6	10818140	10818140	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:10818140T>C	uc021ylk.1	-	3	503	c.221A>G	c.(220-222)cAt>cGt	p.H74R	SYCP2L_uc011dim.1_Intron|TMEM14B_uc010jos.1_Intron|MAK_uc010jot.3_Non-coding_Transcript|MAK_uc010jou.3_Non-coding_Transcript|MAK_uc003mzm.3_Missense_Mutation_p.H74R|MAK_uc021yll.1_Missense_Mutation_p.H74R|MAK_uc010jov.2_Non-coding_Transcript|MAK_uc021ylm.1_Non-coding_Transcript	NM_001242957	NP_001229886	P20794	MAK_HUMAN	Homo sapiens male germ cell-associated kinase (MAK), transcript variant 3, mRNA.	74	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AAAATAAAGATGGTCATTTTC	0.259000														70			10		0	0	0.000442599	0	0
EFR3A	23167	broad.mit.edu	37	8	132968031	132968031	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:132968031T>C	uc003yte.3	+	6	859	c.655T>C	c.(655-657)Tct>Cct	p.S219P		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	219						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			AGGCCCTCCTTCTTCTCCTTC	0.353000														83			15		0	0	0.000958276	0	0
ZDHHC24	254359	broad.mit.edu	37	11	66307075	66307075	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:66307075G>A	uc001oin.1	-	2	977	c.780C>T	c.(778-780)ccC>ccT	p.P260P	ZDHHC24_uc009yrg.2_Intron	NM_207340	NP_997223	Q6UX98	ZDH24_HUMAN	Homo sapiens zinc finger, DHHC-type containing 24 (ZDHHC24), mRNA.	260						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						AGGCCAGGAAGGGCCAGAGCC	0.662000														17			8		0	0	0.000274275	0	0
AK302879	0	broad.mit.edu	37	15	76073326	76073326	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:76073326G>A	uc010umm.1	+	6	519	c.442G>A	c.(442-444)Ggc>Agc	p.G148S	DNM1P35_uc021sqp.1_Intron|DQ582939_uc002bba.1_5'Flank					SubName: Full=cDNA FLJ59077, highly similar to Golgin subfamily A member 6;																		GGATCTGGCTGGCCGCCTGCA	0.532000														39			5		0	0	0.000157383	0	0
KLKB1	3818	broad.mit.edu	37	4	187175746	187175746	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:187175746C>T	uc003iyy.3	+	11	1389	c.1318C>T	c.(1318-1320)Ccc>Tcc	p.P440S	KLKB1_uc011clc.2_Missense_Mutation_p.P238S|KLKB1_uc011cld.2_Missense_Mutation_p.P402S	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	440	Peptidase S1.				Factor XII activation|blood coagulation, intrinsic pathway|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TCCTAGGCTTCCCCTGCAGGA	0.383000														47			38		0	0	0.0025221	0	0
ALMS1	7840	broad.mit.edu	37	2	73651805	73651805	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:73651805C>T	uc002sje.1	+	4	1123	c.1012C>T	c.(1012-1014)Cgt>Tgt	p.R338C	ALMS1_uc002sjf.1_Missense_Mutation_p.R296C	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	338					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						AGACTGTGATCGTTATGATGA	0.378000														28			6		0	0	0.000274275	0	0
FAM190A	401145	broad.mit.edu	37	4	91230231	91230231	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:91230231G>A	uc003hsv.4	+	1	1136	c.796G>A	c.(796-798)Gat>Aat	p.D266N	FAM190A_uc003hsu.3_Missense_Mutation_p.D266N|FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.D266N	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	266										NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						CTTGACTGAAGATTCTGTGTC	0.438000														84			33		0	0	0.0024448	0	0
COL9A1	1297	broad.mit.edu	37	6	70961998	70961998	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:70961998C>T	uc003pfg.4	-	26	1944	c.1785G>A	c.(1783-1785)ggG>ggA	p.G595G	COL9A1_uc003pfe.4_Silent_p.G168G|COL9A1_uc003pff.4_Silent_p.G352G	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	595	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						GACCAGGCTTCCCTGGAGCAC	0.433000														41			11		0	0	0.00136819	0	0
OR2A12	346525	broad.mit.edu	37	7	143793046	143793046	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:143793046G>A	uc011kty.2	+	0	846	c.846G>A	c.(844-846)ccG>ccA	p.P282P		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P282Q(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TTTTCAACCCGATCCTGAACC	0.468000														204			21		0	0	0.000586117	0	0
VWF	7450	broad.mit.edu	37	12	6132876	6132876	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:6132876G>A	uc001qnn.1	-	24	3550	c.3300C>T	c.(3298-3300)ttC>ttT	p.F1100F	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1100					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGGTGTCGCAGAAGCAGGCGC	0.602000														17			6		0	0	0.00116845	0	0
ZC3H12A	80149	broad.mit.edu	37	1	37941452	37941452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:37941452C>T	uc001cbb.4	+	1	505	c.355C>T	c.(355-357)Ccc>Tcc	p.P119S	LOC728431_uc021olm.1_5'Flank	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	119					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCCTAAGGCTCCCAACCTGGA	0.642000														9			6		0	0	0.00198382	0	0
SLFN11	91607	broad.mit.edu	37	17	33687286	33687286	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:33687286C>T	uc002hjg.4	-	2	1421	c.1174G>A	c.(1174-1176)Gaa>Aaa	p.E392K	SLFN11_uc010ctr.3_Missense_Mutation_p.E392K|SLFN11_uc010ctp.3_Missense_Mutation_p.E392K|SLFN11_uc010ctq.3_Missense_Mutation_p.E392K|SLFN11_uc002hjh.4_Missense_Mutation_p.E392K	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	392						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)		TGCTGGAGTTCCTTTTTATGT	0.383000														45			5		0	0	0.000602214	0	0
BTRC	8945	broad.mit.edu	37	10	103292172	103292172	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:103292172C>T	uc001kta.3	+	7	1074	c.961C>T	c.(961-963)Cga>Tga	p.R321*	BTRC_uc001ktb.3_Nonsense_Mutation_p.R285*|BTRC_uc001ktc.3_Nonsense_Mutation_p.R295*	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	321					Wnt receptor signaling pathway|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction	SCF ubiquitin ligase complex|cytosol|nucleus		p.R321Q(1)		endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		AAGCGGCCTTCGAGACAACAC	0.408000														68			25		0	0	0.00178596	0	0
C20orf11	54994	broad.mit.edu	37	20	61572944	61572944	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:61572944C>T	uc002ydy.3	+	1	267	c.90C>T	c.(88-90)aaC>aaT	p.N30N		NM_017896	NP_060366	Q9NWU2	CT011_HUMAN	Homo sapiens chromosome 20 open reading frame 11 (C20orf11), mRNA.	30	LisH.					nucleus	protein binding			endometrium(1)|kidney(1)|lung(3)|skin(1)|urinary_tract(1)	7	Breast(26;5.68e-08)					CAGACATGAACCGCCTCATCA	0.418000														85			12		0	0	0.00185496	0	0
CUZD1	50624	broad.mit.edu	37	10	124595826	124595826	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:124595826T>C	uc001lgs.3	-	7	1809	c.858A>G	c.(856-858)atA>atG	p.I286M	CUZD1_uc001lgp.3_Missense_Mutation_p.I5M|CUZD1_uc009yad.3_Missense_Mutation_p.I5M|CUZD1_uc009yaf.3_Intron|CUZD1_uc001lgr.3_Missense_Mutation_p.I5M|CUZD1_uc010qty.2_Missense_Mutation_p.I5M|CUZD1_uc009yae.3_Missense_Mutation_p.I5M|CUZD1_uc010qtz.2_Missense_Mutation_p.I286M	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN	Homo sapiens CUB and zona pellucida-like domains 1 (CUZD1), transcript variant 1, mRNA.	286	ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		AGGATTTGCTTATAATAACTC	0.348000														29			6		0	0	0.00116845	0	0
CHN1	1123	broad.mit.edu	37	2	175665002	175665002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:175665002C>T	uc002uji.3	-	12	1563	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K	CHN1_uc010zeq.2_Missense_Mutation_p.E382K|CHN1_uc002ujj.3_Missense_Mutation_p.E183K|CHN1_uc002ujg.3_Missense_Mutation_p.E283K	NM_001822	NP_001813	P15882	CHIN_HUMAN	Homo sapiens chimerin (chimaerin) 1 (CHN1), transcript variant 1, mRNA.	408	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|SH3/SH2 adaptor activity|metal ion binding	p.H407H(1)|p.H407Q(1)		NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			TTCTCCTTTTCGTGGAGGGTC	0.403000			T	TAF15	extraskeletal myxoid chondrosarcoma									71			25		0	0	0.000878237	0	0
TOR1AIP2	163590	broad.mit.edu	37	1	179815540	179815540	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:179815540T>G	uc001gnl.3	-	6	1893	c.1079A>C	c.(1078-1080)aAg>aCg	p.K360T	TOR1AIP2_uc001gnk.3_Missense_Mutation_p.K360T	NM_001199260	NP_001186189	Q8NFQ8	TOIP2_HUMAN	Homo sapiens torsin A interacting protein 2 (TOR1AIP2), transcript variant 3, mRNA.	360						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						CACAGCAGCCTTCTGGCCATT	0.512000														45			10		0	0	0.00136819	0	0
OR2F2	135948	broad.mit.edu	37	7	143633204	143633204	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:143633204G>A	uc011ktv.2	+	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					ATAGTCTAAGGAATAAAGAGG	0.438000														57			10		0	0	0.00136819	0	0
ZNF260	339324	broad.mit.edu	37	19	37005502	37005502	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:37005502G>A	uc002oee.2	-	3	1561	c.639C>T	c.(637-639)atC>atT	p.I213I	ZNF260_uc010eey.2_Silent_p.I213I|ZNF260_uc002oef.2_Silent_p.I213I|ZNF260_uc002oed.2_Silent_p.I213I|ZNF260_uc021uti.1_Silent_p.I213I	NM_001012756	NP_001159510	Q3ZCT1	ZN260_HUMAN	Homo sapiens zinc finger protein 260 (ZNF260), transcript variant 1, mRNA.	213					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					CTCCAGTATGGATTCTCTGAT	0.398000														72			24		0	0	0.00229938	0	0
CR1	1378	broad.mit.edu	37	1	207785290	207785290	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:207785290C>T	uc001hfy.3	+	30	5269	c.5129C>T	c.(5128-5130)tCc>tTc	p.S1710F	CR1_uc001hfx.3_Missense_Mutation_p.S2160F|CR1_uc021pij.1_Missense_Mutation_p.S1710F	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1710	Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTAGTGAAATCCTGTGATGAC	0.478000														130			31		0	0	0.0024448	0	0
MCAM	4162	broad.mit.edu	37	11	119185254	119185254	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:119185254G>A	uc001pwf.3	-	4	533	c.504C>T	c.(502-504)ccC>ccT	p.P168P		NM_006500	NP_006491	P43121	MUC18_HUMAN	Homo sapiens melanoma cell adhesion molecule (MCAM), mRNA.	168	Ig-like V-type 2.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CTTGAGGAATGGGGTACCCGT	0.597000														37			10		0	0	0.000978159	0	0
OR2B2	81697	broad.mit.edu	37	6	27879370	27879370	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:27879370G>A	uc011dkw.2	-	0	805	c.728C>T	c.(727-729)tCc>tTc	p.S243F		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						AATTAGATGGGAGCCACATGT	0.468000														67			12		0	0	0.00136819	0	0
DSEL	92126	broad.mit.edu	37	18	65178404	65178404	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:65178404G>A	uc002lke.1	-	1	4696	c.3472C>T	c.(3472-3474)Cct>Tct	p.P1158S	DSEL_uc021ulg.1_Missense_Mutation_p.P1158S	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	1148						integral to membrane	isomerase activity|sulfotransferase activity	p.P1158S(2)		NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				GGAGACAAAGGAATTCCAAGA	0.373000														43			5		0	0	0.00116845	0	0
ZNF563	147837	broad.mit.edu	37	19	12433461	12433461	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:12433461G>A	uc002mtp.3	-	1	306	c.68C>T	c.(67-69)cCa>cTa	p.P23L	ZNF563_uc002mtq.2_Missense_Mutation_p.P23L	NM_145276	NP_660319	Q8TA94	ZN563_HUMAN	Homo sapiens zinc finger protein 563 (ZNF563), mRNA.	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTTCTGTGATGGACCCAGCAA	0.438000														42			36		0	0	0.00111076	0	0
AS3MT	57412	broad.mit.edu	37	10	104629864	104629864	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:104629864G>T	uc001kwj.3	+	6	471	c.72G>T	c.(70-72)aaG>aaT	p.K24N	AS3MT_uc009xxh.3_Missense_Mutation_p.K22N|AS3MT_uc001kwk.3_Missense_Mutation_p.K22N	NM_020682	NP_065733	Q9HBK9	AS3MT_HUMAN	Homo sapiens arsenic (+3 oxidation state) methyltransferase (AS3MT), mRNA.	22					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		AGGTGCTGAAGAGATCGGCAG	0.612000														15			9		4.68919e-08	1.57892e-07	0.000673444	1	0
PDILT	204474	broad.mit.edu	37	16	20380952	20380952	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:20380952G>A	uc002dhc.1	-	7	1201	c.978C>T	c.(976-978)ttC>ttT	p.F326F		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	326					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CTGTGACCCGGAAGTACTTGA	0.468000														61			14		0	0	0.000422831	0	0
DEPDC5	9681	broad.mit.edu	37	22	32275563	32275563	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:32275563C>T	uc011alu.2	+	37	4060	c.3858C>T	c.(3856-3858)ttC>ttT	p.F1286F	DEPDC5_uc011als.2_Silent_p.F1186F|DEPDC5_uc003als.3_Silent_p.F1255F|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Silent_p.F1277F|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Silent_p.F704F|DEPDC5_uc003alw.3_Silent_p.F553F|DEPDC5_uc011alx.2_Silent_p.F103F|DEPDC5_uc010gwk.3_Silent_p.F281F|DEPDC5_uc011aly.2_Silent_p.F103F	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	1255					intracellular signal transduction			p.L1285P(1)		breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGGACGACTTCGCCAGCTTCC	0.587000														28			9		0	0	0.000978159	0	0
SLC6A16	28968	broad.mit.edu	37	19	49793384	49793384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:49793384G>A	uc002pmz.3	-	11	2441	c.2207C>T	c.(2206-2208)tCc>tTc	p.S736F	SLC6A16_uc002pna.3_3'UTR	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	Homo sapiens solute carrier family 6, member 16 (SLC6A16), mRNA.	736						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)		ATGAAGTTAGGAAGTCACATT	0.388000														53			14		0	0	0.00244969	0	0
DDO	8528	broad.mit.edu	37	6	110726085	110726085	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:110726085C>T	uc003puc.3	-	3	438	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	METTL24_uc003pub.2_Intron|DDO_uc003pud.3_Intron	NM_003649	NP_003640	Q99489	OXDD_HUMAN	Homo sapiens D-aspartate oxidase (DDO), transcript variant 1, mRNA.	117					aspartate catabolic process	peroxisome	D-amino-acid oxidase activity|D-aspartate oxidase activity|binding	p.R145*(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|pancreas(1)|skin(3)	24		all_cancers(87;3.47e-21)|all_epithelial(87;9.03e-20)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_lung(197;2.98e-05)|Lung NSC(302;3.25e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.00327)		all cancers(137;2.54e-48)|Epithelial(106;3.11e-44)|OV - Ovarian serous cystadenocarcinoma(136;2.08e-24)|BRCA - Breast invasive adenocarcinoma(108;0.000141)|GBM - Glioblastoma multiforme(226;0.00046)		AGTCATCTTTCGAAATCCCAG	0.468000														25			13		0	0	0.00185496	0	0
ABCA4	24	broad.mit.edu	37	1	94543444	94543444	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:94543444C>T	uc001dqh.3	-	11	1461	c.1357_splice	c.e11-1	p.D453_splice	ABCA4_uc010otn.1_Splice_Site_p.D453_splice	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	453					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)		CCAGGGTATCCTTGGGAAGAA	0.418000														47			19		0	0	0.00121646	0	0
OR1C1	26188	broad.mit.edu	37	1	247920929	247920929	+	Silent	SNP	G	A	A	rs149265525		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:247920929G>A	uc010pza.2	-	0	780	c.780C>T	c.(778-780)ttC>ttT	p.F260F		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F260F(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ATGAAGGGCTGAAATAGACGG	0.517000														22			6		0	0	0.00116845	0	0
TNRC6A	27327	broad.mit.edu	37	16	24829927	24829927	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:24829927C>T	uc002dmm.3	+	20	5100	c.4986C>T	c.(4984-4986)tcC>tcT	p.S1662S	TNRC6A_uc010bxs.3_Silent_p.S1409S|TNRC6A_uc002dmn.3_Silent_p.S1360S|TNRC6A_uc002dmo.3_Silent_p.S1301S	NM_014494	NP_055309	Q8NDV7	TNR6A_HUMAN	Homo sapiens trinucleotide repeat containing 6A (TNRC6A), mRNA.	1662					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	RNA binding|nucleotide binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CATCCTCATCCTTGAACACCA	0.522000														12			5		0	0	0.00116845	0	0
SYNE1	23345	broad.mit.edu	37	6	152740785	152740785	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:152740785C>T	uc021zhb.1	-	37	5563	c.5340G>A	c.(5338-5340)tgG>tgA	p.W1780*	SYNE1_uc003qot.4_Nonsense_Mutation_p.W1787*|SYNE1_uc003qou.4_Nonsense_Mutation_p.W1780*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.W1763*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1780					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACAGTTTAATCCAGACAGAAA	0.358000										HNSCC(10;0.0054)				22			5		0	0	0.000602214	0	0
BDP1	55814	broad.mit.edu	37	5	70811919	70811919	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:70811919A>T	uc003kbp.1	+	20	4944	c.4681A>T	c.(4681-4683)Atg>Ttg	p.M1561L	BDP1_uc003kbo.3_Missense_Mutation_p.M1561L	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1561					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CCAGCAAGAAATGAAGGAAAG	0.413000														7			6		0	0	0.00116845	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33944950	33944950	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:33944950C>T	uc001bxj.4	+	1	228	c.61C>T	c.(61-63)Ctg>Ttg	p.L21L	ZSCAN20_uc001bxk.2_Silent_p.L21L|ZSCAN20_uc009vui.3_Silent_p.L21L	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	21					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGAAGAACTCCTGATTGTGAA	0.562000														21			11		0	0	0.00136819	0	0
NPSR1	387129	broad.mit.edu	37	7	34851456	34851456	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:34851456C>T	uc003teh.1	+	3	587	c.459C>T	c.(457-459)ccC>ccT	p.P153P	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Silent_p.P153P|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_Intron|NPSR1_uc010kwv.1_Intron|NPSR1_uc003tei.1_Silent_p.P153P|NPSR1_uc010kww.1_Silent_p.P142P|NPSR1_uc011kar.1_Intron|NPSR1-AS1_uc010kwy.3_Intron|NPSR1-AS1_uc003tek.4_Intron	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	153						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)	TCGTCTACCCCATGAAGTTCC	0.463000														84			21		0	0	0.000720815	0	0
ELTD1	64123	broad.mit.edu	37	1	79402088	79402088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:79402088C>T	uc001diq.4	-	6	925	c.769G>A	c.(769-771)Gtt>Att	p.V257I		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	257					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)		AAAAAGAAAACTTTGAGAGCT	0.259000														54			13		0	0	0.00136819	0	0
NXF3	56000	broad.mit.edu	37	X	102337212	102337212	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:102337212C>T	uc004eju.3	-	8	932	c.861G>A	c.(859-861)acG>acA	p.T287T	NXF3_uc010noi.1_Silent_p.T137T|NXF3_uc011mrw.1_Silent_p.T287T|NXF3_uc011mrx.1_Silent_p.T198T	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	287						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CCGAGAAGGTCGTGCACACTG	0.542000														50			34		0	0	0.00148497	0	0
PTPRT	11122	broad.mit.edu	37	20	40944429	40944429	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:40944429C>T	uc002xkg.3	-	11	2257	c.2073G>A	c.(2071-2073)tgG>tgA	p.W691*	PTPRT_uc010ggj.3_Nonsense_Mutation_p.W691*	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	691	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			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)				GAGGAGGGTTCCAGTAGCCAT	0.502000														43			8		0	0	0.000157383	0	0
GATAD2B	57459	broad.mit.edu	37	1	153791327	153791328	+	Missense_Mutation	DNP	TC	GT	GT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:153791327_153791328TC>GT	uc001fdb.4	-	3	780_781	c.536_537GA>AC	c.(535-537)cga>cAC	p.R179H		NM_020699	NP_065750	Q8WXI9	P66B_HUMAN	Homo sapiens GATA zinc finger domain containing 2B (GATAD2B), mRNA.	179	CR1.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R179*(3)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACAGGACCAGTCGGGCTTCTTC	0.475000														68			26		0	0	6.4e-05	0	0
OR10H3	26532	broad.mit.edu	37	19	15852289	15852289	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:15852289C>T	uc010xoq.2	+	0	87	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						CTGTCTTGTTCCTGCTGTACC	0.493000														103			19		0	0	0.00188189	0	0
PLCB1	23236	broad.mit.edu	37	20	8608941	8608941	+	Splice_Site	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:8608941G>A	uc002wnb.3	+	4	250	c.247_splice	c.e4-1	p.D83_splice	PLCB1_uc010zrb.1_Splice_Site|PLCB1_uc010gbv.1_Splice_Site_p.D83_splice|PLCB1_uc002wmz.1_Splice_Site_p.D83_splice|PLCB1_uc002wna.3_Splice_Site_p.D83_splice|PLCB1_uc002wnc.1_Splice_Site	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	83					CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TATTACCCAGGACCCCAAATT	0.423000														24			4		0	0	0.00024832	0	0
C6orf118	168090	broad.mit.edu	37	6	165712932	165712932	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:165712932C>T	uc003qum.4	-	4	972	c.936_splice	c.e4+1	p.E312_splice	C6orf118_uc011egi.1_Splice_Site	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	312										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CGATCGTCACCTCGTACTGTG	0.473000														22			11		0	0	0.00136819	0	0
KCNS2	3788	broad.mit.edu	37	8	99440421	99440421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:99440421G>A	uc003yin.3	+	1	564	c.214G>A	c.(214-216)Gac>Aac	p.D72N	KCNS2_uc022azb.1_Missense_Mutation_p.D72N	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	72						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.D72N(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GTTCTACTTCGACCGCAACCC	0.602000														66			9		0	0	0.000442599	0	0
XIRP1	165904	broad.mit.edu	37	3	39227456	39227456	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:39227456G>A	uc003cjk.2	-	1	3710	c.3481C>T	c.(3481-3483)Cag>Tag	p.Q1161*	XIRP1_uc003cji.3_Intron|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Nonsense_Mutation_p.Q1161*	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1161							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGTTCCCTCTGAGAAAGCTGG	0.647000														11			8		0	0	0.000157383	0	0
FBXO34	55030	broad.mit.edu	37	14	55818037	55818037	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:55818037G>A	uc021rtk.1	+	0	929	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	FBXO34_uc001xbv.3_Non-coding_Transcript|FBXO34_uc001xbu.3_Missense_Mutation_p.R310Q|FBXO34_uc010aoo.3_Missense_Mutation_p.R310Q	NM_152231	NP_689417	Q9NWN3	FBX34_HUMAN	Homo sapiens F-box protein 34 (FBXO34), transcript variant 2, mRNA.	310										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						AGCTTCCGTCGAAATGTGGGC	0.537000														55			16		0	0	0.000422831	0	0
LOC399753	399753	broad.mit.edu	37	10	49239431	49239431	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:49239431G>A	uc001jgd.3	-	0	228	c.69C>T	c.(67-69)ctC>ctT	p.L23L						Homo sapiens uncharacterized LOC399753 (LOC399753), non-coding RNA.																		GGTGCATGTGGAGGTCCTCAC	0.582000														35			6		0	0	0.00121646	0	0
FAM40B	57464	broad.mit.edu	37	7	129079882	129079882	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:129079882C>T	uc011koy.2	+	1	189	c.149C>T	c.(148-150)aCt>aTt	p.T50I	FAM40B_uc003vow.3_Missense_Mutation_p.T50I	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	50								p.T50I(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GACTGTCCCACTCTGGAGTTT	0.483000														73			9		0	0	0.00136819	0	0
NAPA	8775	broad.mit.edu	37	19	47996236	47996236	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:47996236G>A	uc002phd.2	-	6	861	c.543C>T	c.(541-543)gcC>gcT	p.A181A	LOC100505681_uc021uwo.1_Intron|NAPA_uc002pha.2_Silent_p.A181A|NAPA_uc002phc.2_Silent_p.A68A|NAPA_uc010elf.2_Silent_p.A75A	NM_003827	NP_003818	P54920	SNAA_HUMAN	Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, alpha (NAPA), transcript variant 1, mRNA.	181					cellular membrane fusion|intra-Golgi vesicle-mediated transport|post-Golgi vesicle-mediated transport	cytosol				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)	11		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000466)|all cancers(93;0.000739)|Epithelial(262;0.0168)|GBM - Glioblastoma multiforme(486;0.049)		AGATGTCAATGGCCTTCTGAT	0.612000														35			8		0	0	0.00244969	0	0
NPHS2	7827	broad.mit.edu	37	1	179520481	179520481	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:179520481G>A	uc001gmq.4	-	7	1064	c.979C>T	c.(979-981)Ctt>Ttt	p.L327F	AXDND1_uc001gmo.3_Intron|AXDND1_uc009wxg.3_Intron|AXDND1_uc021pfj.1_Intron|AXDND1_uc009wxh.3_Intron|NPHS2_uc009wxi.3_Missense_Mutation_p.L259F|AXDND1_uc001gmr.3_Non-coding_Transcript	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA.	327					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						AGAGACTGAAGGGTGTGGAGG	0.532000														45			9		0	0	0.00136819	0	0
PCLO	27445	broad.mit.edu	37	7	82583913	82583913	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:82583913G>A	uc003uhx.2	-	4	6645	c.6356C>T	c.(6355-6357)tCg>tTg	p.S2119L	PCLO_uc003uhv.2_Missense_Mutation_p.S2119L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2050					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						ACTGCTGGTCGAATCTGTAAG	0.418000														40			8		0	0	0.000442599	0	0
SMARCC2	6601	broad.mit.edu	37	12	56558217	56558217	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:56558217G>A	uc001skb.3	-	26	3544	c.3438C>T	c.(3436-3438)aaC>aaT	p.N1146N	SMARCC2_uc001skd.3_Intron|SMARCC2_uc001ska.3_Intron|SMARCC2_uc001skc.3_Intron|SMARCC2_uc010sqf.2_Intron	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	1146	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TCGCCGGCAGGTTAGGATGTA	0.647000														34			11		0	0	0.00185496	0	0
KRT13	3860	broad.mit.edu	37	17	39661532	39661532	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:39661532C>T	uc002hwu.1	-	0	334	c.271G>A	c.(271-273)Gac>Aac	p.D91N	KRT13_uc002hwv.1_Missense_Mutation_p.D91N|KRT13_uc010wfr.2_Intron|KRT13_uc010cxo.3_Missense_Mutation_p.D91N|KRT13_uc021txk.1_5'UTR	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	91	Gly-rich.|Head.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				gcaccaaagtcaacaaagcca	0.582000														21			8		0	0	0.000157383	0	0
PPM1H	57460	broad.mit.edu	37	12	63042297	63042297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:63042297G>A	uc001srk.3	-	9	1666	c.1517C>T	c.(1516-1518)cCt>cTt	p.P506L		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA.	506	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		ATGTATTAAAGGAATGACATA	0.527000														39			6		0	0	0.00198382	0	0
SNTA1	6640	broad.mit.edu	37	20	31996540	31996540	+	Silent	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:31996540A>T	uc002wzd.1	-	6	1664	c.1392T>A	c.(1390-1392)ctT>ctA	p.L464L	SNTA1_uc010zuf.1_Silent_p.L389L	NM_003098	NP_003089	Q13424	SNTA1_HUMAN	Homo sapiens syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component) (SNTA1), mRNA.	464	SU.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						AATCCAGGAAAAGGAGACTGG	0.632000														78			7		0	0	0.00198382	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37964199	37964199	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:37964199C>T	uc003asz.4	+	2	951	c.548C>T	c.(547-549)tCt>tTt	p.S183F		NM_152243	NP_689449	Q00587	BORG5_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.	183					positive regulation of pseudopodium assembly|regulation of cell shape	Golgi apparatus|actin cytoskeleton|endomembrane system|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					TCCTTCCCCTCTGAGCCCGGG	0.637000														38			13		0	0	0.00185496	0	0
BUB1B	701	broad.mit.edu	37	15	40509708	40509708	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:40509708C>T	uc001zkx.4	+	20	2902	c.2690C>T	c.(2689-2691)cCc>cTc	p.P897L	PAK6_uc010bbl.3_5'UTR|PAK6_uc010bbm.3_5'UTR	NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	897	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		ATCCACGATCCCTATGATTGT	0.408000			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome					64			53		0	0	0.000781405	0	0
CNTN5	53942	broad.mit.edu	37	11	100211308	100211308	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:100211308C>T	uc001pga.3	+	21	3348	c.2844C>T	c.(2842-2844)ttC>ttT	p.F948F	CNTN5_uc021qpb.1_Silent_p.F948F|CNTN5_uc021qpc.1_Silent_p.F874F|CNTN5_uc010ruk.2_Silent_p.F219F	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	948	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			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)		TATATCACTTCACAGTGAGGG	0.438000														14			7		0	0	0.000157383	0	0
KRT71	112802	broad.mit.edu	37	12	52944022	52944023	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:52944022_52944023CC>TT	uc001sao.3	-	1	516_517	c.446_447GG>AA	c.(445-447)cgg>cAA	p.R149Q		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	149	Coil 1A.|Rod.						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)		GCTCCAGGAACCGCACCTGGAA	0.535000														28			7		0	0	6.4e-05	0	0
TMOD2	29767	broad.mit.edu	37	15	52060516	52060517	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:52060516_52060517GG>AA	uc002abk.3	+	2	405_406	c.184_185GG>AA	c.(184-186)ggc>AAc	p.G62N	TMOD2_uc002abl.4_Missense_Mutation_p.G62N|TMOD2_uc010bfb.3_Missense_Mutation_p.G18N	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN	Homo sapiens tropomodulin 2 (neuronal) (TMOD2), transcript variant 1, mRNA.	62					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		GGCAGCCACCGGCCCCTTTGAC	0.540000														11			6		0	0	6.4e-05	0	0
IGSF10	285313	broad.mit.edu	37	3	151164105	151164105	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:151164105G>A	uc011bod.2	-	3	3664	c.3664C>T	c.(3664-3666)Caa>Taa	p.Q1222*		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1222					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACTTTATGTTGATTCCTTAAT	0.378000														99			22		0	0	0.00278032	0	0
EMX1	2016	broad.mit.edu	37	2	73145330	73145330	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:73145330C>G	uc002sin.1	+	0	727	c.349C>G	c.(349-351)Ctc>Gtc	p.L117V		NM_004097	NP_004088	Q04741	EMX1_HUMAN	Homo sapiens empty spiracles homeobox 1 (EMX1), mRNA.	84						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(2)|lung(3)	6						TGGGCCCGAGCTCGTGTTCCC	0.756000														5			4		0	0	0.00116845	0	0
MUC21	394263	broad.mit.edu	37	6	30954473	30954473	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:30954473C>T	uc003nsh.2	+	1	772	c.521C>T	c.(520-522)tCc>tTc	p.S174F	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.S158F	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	174	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane		p.T173P(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						AGCACAACCTCCAGTGGGGCC	0.612000														99			15		0	0	0.00244969	0	0
IVD	3712	broad.mit.edu	37	15	40707679	40707679	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:40707679C>T	uc001zls.3	+	8	1301	c.967C>T	c.(967-969)Cag>Tag	p.Q323*	IVD_uc001zlq.2_Nonsense_Mutation_p.Q293*|IVD_uc001zlr.2_Nonsense_Mutation_p.Q26*	NM_002225	NP_002216	P26440	IVD_HUMAN	Homo sapiens isovaleryl-CoA dehydrogenase (IVD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	320					leucine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|isovaleryl-CoA dehydrogenase activity			kidney(1)|lung(5)|ovary(2)|prostate(1)	9		all_cancers(109;1.19e-18)|all_epithelial(112;1.52e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.65e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0808)		CGGCCACTTCCAGGTGAGCCG	0.532000														10			14		0	0	0.00244969	0	0
CAB39	51719	broad.mit.edu	37	2	231683275	231683276	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:231683275_231683276CC>TT	uc002vqx.3	+	8	1314_1315	c.882_883CC>TT	c.(880-885)atcctc>atTTtc	p.L295F	CAB39_uc010fxr.3_Missense_Mutation_p.L295F|CAB39_uc010fxq.3_Missense_Mutation_p.L295F|CAB39_uc002vqy.3_Missense_Mutation_p.L50F	NM_016289	NP_057373	Q9Y376	CAB39_HUMAN	Homo sapiens calcium binding protein 39 (CAB39), transcript variant 1, mRNA.	295					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		TCCTAGACATCCTCCTCAAGAA	0.490000														40			6		0	0	6.4e-05	0	0
UNC45B	146862	broad.mit.edu	37	17	33495250	33495250	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:33495250C>T	uc002hja.3	+	9	1419	c.1322C>T	c.(1321-1323)gCc>gTc	p.A441V	UNC45B_uc002hjb.3_Missense_Mutation_p.A441V|UNC45B_uc002hjc.3_Missense_Mutation_p.A441V|UNC45B_uc010cto.3_Missense_Mutation_p.A441V	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	441					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)				CAGCTGGTGGCCGTGGAGGCC	0.582000														37			9		0	0	0.000673444	0	0
NOL4	8715	broad.mit.edu	37	18	31537309	31537309	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:31537309T>G	uc010dmi.3	-	7	1707	c.1409A>C	c.(1408-1410)aAa>aCa	p.K470T	NOL4_uc010xbs.2_Missense_Mutation_p.K185T|NOL4_uc002kxr.4_Intron|NOL4_uc010xbt.2_Missense_Mutation_p.K396T|NOL4_uc010dmh.3_Intron|NOL4_uc010xbu.2_Intron|NOL4_uc002kxt.4_Intron|NOL4_uc010xbv.1_Intron	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	470						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ACCACTTCTTTTCATCCGCCT	0.418000														58			16		0	0	0.000958276	0	0
HEPHL1	341208	broad.mit.edu	37	11	93800744	93800744	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:93800744G>A	uc001pep.2	+	4	1048	c.891G>A	c.(889-891)atG>atA	p.M297I	AF086184_uc001pen.1_Non-coding_Transcript	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	297	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TATTTGGAATGGGGAATGAAA	0.483000														37			7		0	0	0.000157383	0	0
CRLF1	9244	broad.mit.edu	37	19	18709599	18709599	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:18709599G>A	uc010ebt.2	-	2	704	c.510C>T	c.(508-510)tcC>tcT	p.S170S		NM_004750	NP_004741	O75462	CRLF1_HUMAN	Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA.	170	Fibronectin type-III 1.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						TGTACTTGAGGGAGTAGTTGG	0.607000														24			7		0	0	0.000157383	0	0
SPP1	6696	broad.mit.edu	37	4	88904004	88904004	+	Missense_Mutation	SNP	C	T	T	rs45452992		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:88904004C>T	uc003hra.3	+	6	1066	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	SPP1_uc011cde.2_Missense_Mutation_p.R314C|SPP1_uc003hrb.3_Missense_Mutation_p.R274C|SPP1_uc003hrc.3_Missense_Mutation_p.R287C|SPP1_uc003hrd.3_Missense_Mutation_p.R260C	NM_001040058	NP_001035147	P10451	OSTP_HUMAN	Homo sapiens secreted phosphoprotein 1 (SPP1), transcript variant 1, mRNA.	301			R -> H (in dbSNP:rs4660).		biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity	p.R301C(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		CCTGAAATTTCGTATTTCTCA	0.348000														49			11		0	0	0.000673444	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854487	12854487	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:12854487C>T	uc001auj.2	+	2	814	c.711C>T	c.(709-711)ctC>ctT	p.L237L		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	237										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTCGCAAACTCGTTTTCTCCA	0.448000														218			52		0	0	0.000781405	0	0
OR4N2	390429	broad.mit.edu	37	14	20295937	20295937	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:20295937G>A	uc010tkv.2	+	0	330	c.330G>A	c.(328-330)ggG>ggA	p.G110G		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGGAGGAGGGGAGGGATTAC	0.522000														30			16		0	0	0.00121646	0	0
HPN	3249	broad.mit.edu	37	19	35556486	35556486	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:35556486C>T	uc002nxq.2	+	11	1196	c.951C>T	c.(949-951)atC>atT	p.I317I	HPN_uc002nxr.2_Silent_p.I317I|HPN_uc010xsh.1_Silent_p.I286I|HPN_uc002nxt.1_Silent_p.I201I|LOC100128675_uc010xsi.2_Intron	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	317	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	TCCCCATAATCAGCAATGATG	0.607000														17			7		0	0	0.000157383	0	0
FAM26E	254228	broad.mit.edu	37	6	116836887	116836887	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:116836887A>T	uc003pwy.3	+	1	717	c.665A>T	c.(664-666)gAg>gTg	p.E222V	BET3L_uc011ebh.2_Intron	NM_153711	NP_714922	Q8N5C1	FA26E_HUMAN	Homo sapiens family with sequence similarity 26, member E (FAM26E), mRNA.	222						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		GCACAAAAGGAGAAGGAGCAG	0.438000														29			10		0	0	0.00136819	0	0
MAGEB16	139604	broad.mit.edu	37	X	35821024	35821024	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:35821024G>A	uc010ngt.1	+	1	990	c.711G>A	c.(709-711)ggG>ggA	p.G237G	MAGEB16_uc022bus.1_Silent_p.G237G	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	237	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TATATTCTGGGAAGAAGCACT	0.493000														15			7		0	0	0.00198382	0	0
KEL	3792	broad.mit.edu	37	7	142651377	142651377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:142651377G>A	uc003wcb.3	-	7	1028	c.818C>T	c.(817-819)tCc>tTc	p.S273F		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	273					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)					GATTGACAAGGAAGAGTGTTC	0.542000														44			7		0	0	0.00198382	0	0
RPGR	6103	broad.mit.edu	37	X	38147243	38147243	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:38147243C>T	uc004ded.1	-	13	1792	c.1624G>A	c.(1624-1626)Gat>Aat	p.D542N	RPGR_uc004deb.3_Missense_Mutation_p.D542N|RPGR_uc004dea.3_Non-coding_Transcript|RPGR_uc004dec.3_Intron	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA.	542	Glu-rich.				intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TCACTATCATCGTTTTCAGTA	0.358000														48			14		0	0	0.000566183	0	0
OVGP1	5016	broad.mit.edu	37	1	111964220	111964220	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:111964220G>A	uc001eba.3	-	6	740	c.684C>T	c.(682-684)ccC>ccT	p.P228P	OVGP1_uc001eaz.3_Silent_p.P190P|OVGP1_uc010owb.2_Intron	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	228					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		GAGAGAAGAGGGGGCTATTAT	0.488000														37			18		0	0	0.00121646	0	0
CLSPN	63967	broad.mit.edu	37	1	36230872	36230872	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:36230872G>A	uc001bzi.3	-	1	160	c.80C>T	c.(79-81)cCt>cTt	p.P27L	CLSPN_uc009vux.3_Missense_Mutation_p.P27L	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	Homo sapiens claspin (CLSPN), transcript variant 1, mRNA.	27					DNA repair|DNA replication|G2/M transition DNA damage checkpoint|activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	DNA binding|anaphase-promoting complex binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACTATCTGAAGGACTATCTGC	0.408000														75			55		0	0	0.000781405	0	0
ZNF350	59348	broad.mit.edu	37	19	52469189	52469189	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:52469189G>A	uc002pyd.3	-	4	745	c.517C>T	c.(517-519)Cat>Tat	p.H173Y	BC014606_uc002pyc.3_Intron	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	Homo sapiens zinc finger protein 350 (ZNF350), mRNA.	173					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		ATTGCAGTATGAAGTCGTTCA	0.378000														92			32		0	0	0.00111076	0	0
LY6G6F	259215	broad.mit.edu	37	6	31677949	31677949	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31677949C>T	uc003nwb.1	+	3	793	c.793C>T	c.(793-795)Cca>Tca	p.P265S	ABHD16A_uc011dnz.2_Intron|LY6G6F_uc003nwa.1_Missense_Mutation_p.P265S	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6F (LY6G6F), mRNA.	265						integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						CCGTGGGGCTCCAGGCAGAGG	0.637000														179			20		0	0	0.000958276	0	0
FASN	2194	broad.mit.edu	37	17	80047516	80047517	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:80047516_80047517CC>TT	uc002kdu.3	-	11	2073_2074	c.1956_1957GG>AA	c.(1954-1959)tcggga>tcAAga	p.G653R	FASN_uc002kdw.1_5'Flank	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	653	Acyl and malonyl transferases (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	ACCTGAGGTCCCGAGATGGTGA	0.678000														5			4		0	0	6.4e-05	0	0
DSCAML1	57453	broad.mit.edu	37	11	117307868	117307868	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:117307868C>T	uc001prh.1	-	25	4872	c.4870G>A	c.(4870-4872)Gcc>Acc	p.A1624T		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1564					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GCGAACTGGGCTGTTTCATTG	0.617000														27			10		0	0	0.000673444	0	0
LEPR	3953	broad.mit.edu	37	1	66067587	66067587	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:66067587G>A	uc001dci.3	+	9	1736	c.1347G>A	c.(1345-1347)tgG>tgA	p.W449*	LEPR_uc001dcg.3_Nonsense_Mutation_p.W449*|LEPR_uc001dch.3_Nonsense_Mutation_p.W449*|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Nonsense_Mutation_p.W449*|LEPR_uc001dcj.3_Nonsense_Mutation_p.W449*|LEPR_uc001dck.3_Nonsense_Mutation_p.W449*	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	449					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)		CTTGCAGATGGTCAACCAGTA	0.328000														74			17		0	0	0.00074312	0	0
ADAM18	8749	broad.mit.edu	37	8	39525535	39525535	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:39525535C>T	uc003xni.3	+	13	1400	c.1345C>T	c.(1345-1347)Cca>Tca	p.P449S	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Missense_Mutation_p.P425S	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	449	Disintegrin.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AGCAGGCACTCCATGTAGAAA	0.343000														71			8		0	0	0.000274275	0	0
ABCG2	9429	broad.mit.edu	37	4	89028360	89028360	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:89028360T>A	uc003hrg.3	-	9	1746	c.1253A>T	c.(1252-1254)aAt>aTt	p.N418I	ABCG2_uc003hrh.3_Missense_Mutation_p.N418I|ABCG2_uc003hrf.3_Missense_Mutation_p.N286I	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	418	ABC transmembrane type-2.	Not glycosylated.			cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	AGTAGAATCATTTTTTAGCCC	0.333000														30			5		0	0	0.000157383	0	0
C12orf4	57102	broad.mit.edu	37	12	4634441	4634441	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:4634441T>C	uc001qms.3	-	5	795	c.707A>G	c.(706-708)aAc>aGc	p.N236S	C12orf4_uc001qmt.3_Missense_Mutation_p.N236S	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	Homo sapiens chromosome 12 open reading frame 4 (C12orf4), mRNA.	236								p.N236K(1)		NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		GTTGTTGGGGTTTTTTAGGTC	0.308000														143			34		0	0	0.00058488	0	0
DOCK3	1795	broad.mit.edu	37	3	51418499	51418499	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:51418499C>T	uc011bds.2	+	52	5625	c.5602C>T	c.(5602-5604)Cca>Tca	p.P1868S		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1868						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)		CCACCCTATCCCAGCCTCCCC	0.602000														44			10		0	0	0.00136819	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147024484	147024484	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:147024484C>T	uc010jgo.1	-	4	1160	c.1012G>A	c.(1012-1014)Gat>Aat	p.D338N	JAKMIP2_uc003loq.1_Missense_Mutation_p.D338N|JAKMIP2_uc011dbx.1_Missense_Mutation_p.D296N|JAKMIP2_uc003lor.1_Missense_Mutation_p.D338N|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	338						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCAGTTCATCGTTTCTCTTG	0.433000														55			19		0	0	0.00188189	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144994641	144994641	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:144994641C>T	uc021ouh.1	-	0	393	c.91G>A	c.(91-93)Gag>Aag	p.E31K	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Missense_Mutation_p.E31K|PDE4DIP_uc001ell.2_Missense_Mutation_p.E34K|PDE4DIP_uc001elm.4_5'UTR|PDE4DIP_uc001eln.4_Missense_Mutation_p.E97K|PDE4DIP_uc001elo.3_Missense_Mutation_p.E168K|PDE4DIP_uc001elw.4_Missense_Mutation_p.E31K|PDE4DIP_uc001elx.4_Missense_Mutation_p.E97K|PDE4DIP_uc001emd.2_Missense_Mutation_p.E31K|PDE4DIP_uc001emc.2_Missense_Mutation_p.E31K|PDE4DIP_uc001emg.2_Missense_Mutation_p.E31K|PDE4DIP_uc021oui.1_Missense_Mutation_p.E34K|PDE4DIP_uc021ouj.1_5'UTR|PDE4DIP_uc001emh.3_Missense_Mutation_p.E168K	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	31					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCATGCGCTCCTCCAGGAAG	0.592000			T	PDGFRB	MPD									93			6		0	0	0.00116845	0	0
NUAK2	81788	broad.mit.edu	37	1	205275413	205275413	+	Missense_Mutation	SNP	T	C	C	rs114209340	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:205275413T>C	uc001hce.3	-	4	720	c.593A>G	c.(592-594)aAc>aGc	p.N198S		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	198	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			ATGGTAGAGGTTGGAGAGACC	0.557000														56			11		0	0	0.00244969	0	0
C3	718	broad.mit.edu	37	19	6682022	6682022	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:6682022C>T	uc002mfm.3	-	34	4342	c.4280G>A	c.(4279-4281)aGa>aAa	p.R1427K		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1427	Properdin-binding.				G-protein coupled receptor protein signaling pathway|complement activation, alternative pathway|complement activation, classical pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.D1426E(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGAGATGTATCTGTCAACACC	0.552000														56			18		0	0	0.00188189	0	0
PLSCR2	57047	broad.mit.edu	37	3	146173114	146173114	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:146173114C>T	uc021xfa.1	-	5	892	c.452G>A	c.(451-453)aGg>aAg	p.R151K	PLSCR2_uc003evw.2_Missense_Mutation_p.R147K|PLSCR2_uc003evv.2_Missense_Mutation_p.R78K	NM_001199978	NP_001186907	Q9NRY7	PLS2_HUMAN	Homo sapiens phospholipid scramblase 2 (PLSCR2), transcript variant 1, mRNA.	78					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	p.V151M(1)		endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						ATCAGTAATCCTCAAGGTAAA	0.433000														85			13		0	0	0.000422831	0	0
FAM75D1	389763	broad.mit.edu	37	9	84604719	84604719	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:84604719G>A	uc004amn.3	+	1	260	c.213G>A	c.(211-213)agG>agA	p.R71R		NM_001001670	NP_001001670	Q6ZQQ2	F75D1_HUMAN	Homo sapiens family with sequence similarity 75, member D1 (FAM75D1), mRNA.	71						integral to membrane				cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(57)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	88						AGAGGAGAAGGAAAGGTGGGA	0.458000														18			7		0	0	0.000157383	0	0
GOLGA2	2801	broad.mit.edu	37	9	131029752	131029752	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:131029752G>A	uc011maw.2	-	5	478	c.465C>T	c.(463-465)aaC>aaT	p.N155N	GOLGA2_uc010mxw.3_Intron|GOLGA2_uc004bul.1_Silent_p.N56N|GOLGA2_uc004bum.1_Silent_p.N56N	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Homo sapiens golgin A2 (GOLGA2), mRNA.	155						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GATCCTTCAGGTTAGCAGACG	0.617000														15			21		0	0	0.00106085	0	0
KRT40	125115	broad.mit.edu	37	17	39140423	39140423	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:39140423G>A	uc010cxh.1	-	2	264	c.103C>T	c.(103-105)Ccc>Tcc	p.P35S	KRT40_uc002hvq.1_Non-coding_Transcript	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	Homo sapiens keratin 40 (KRT40), mRNA.	35	Head.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CAGGTACCGGGGAGACAAGCT	0.582000														10			13		0	0	0.00136819	0	0
MYPOP	339344	broad.mit.edu	37	19	46393958	46393958	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:46393958G>A	uc002pdt.3	-	2	1210	c.1123C>T	c.(1123-1125)Ccg>Tcg	p.P375S		NM_001012643	NP_001012661	Q86VE0	MYPOP_HUMAN	Homo sapiens Myb-related transcription factor, partner of profilin (MYPOP), mRNA.	375	Pro-rich.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						GAGTCGTGCGGAGGGAGCGGG	0.647000														7			4		0	0	0.000602214	0	0
PRAME	23532	broad.mit.edu	37	22	22893196	22893196	+	Missense_Mutation	SNP	G	A	A	rs144751598		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:22893196G>A	uc002zwf.3	-	2	493	c.337C>T	c.(337-339)Cgc>Tgc	p.R113C	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.R97C|PRAME_uc010gtr.3_Missense_Mutation_p.R113C|PRAME_uc002zwg.3_Missense_Mutation_p.R113C|PRAME_uc002zwh.3_Missense_Mutation_p.R113C|PRAME_uc002zwi.3_Missense_Mutation_p.R113C|PRAME_uc002zwj.3_Missense_Mutation_p.R113C|PRAME_uc002zwk.3_Missense_Mutation_p.R113C	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	113					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		TACCTGGGGCGAACCTCCTGG	0.602000														43			9		0	0	0.000978159	0	0
ADAR	103	broad.mit.edu	37	1	154574585	154574585	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:154574585G>A	uc001ffh.3	-	1	775	c.533C>T	c.(532-534)tCc>tTc	p.S178F	ADAR_uc021pag.1_5'UTR|ADAR_uc001ffj.3_Missense_Mutation_p.S178F|ADAR_uc001ffi.3_Missense_Mutation_p.S178F|ADAR_uc001ffk.3_5'UTR|ADAR_uc001ffl.1_5'UTR	NM_001111	NP_001180424	P55265	DSRAD_HUMAN	Homo sapiens adenosine deaminase, RNA-specific (ADAR), transcript variant 1, mRNA.	178					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CTTTGCCAGGGAGTATAAAAC	0.517000														98			25		0	0	0.00209593	0	0
PCDHB7	56129	broad.mit.edu	37	5	140553676	140553676	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140553676C>T	uc003lit.3	+	0	1434	c.1260C>T	c.(1258-1260)acC>acT	p.T420T		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	420	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAACATCACCATCACCGTCA	0.512000														46			6		0	0	0.00116845	0	0
PYGO2	90780	broad.mit.edu	37	1	154932050	154932050	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:154932050G>A	uc001fft.3	-	2	632	c.426C>T	c.(424-426)ggC>ggT	p.G142G		NM_138300	NP_612157	Q9BRQ0	PYGO2_HUMAN	Homo sapiens pygopus homolog 2 (Drosophila) (PYGO2), mRNA.	142	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGAAAGCAGGGCCCATAGGAT	0.637000														34			5		0	0	0.00116845	0	0
TTN	7273	broad.mit.edu	37	2	179413427	179413427	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179413427C>T	uc021vsy.1	-	287	85447	c.85222G>A	c.(85222-85224)Gat>Aat	p.D28408N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D22103N|TTN_uc021vta.1_Missense_Mutation_p.D22036N|TTN_uc021vtb.1_Missense_Mutation_p.D21911N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29335	Fibronectin type-III 107.						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)			CTGAAGGAATCTGTTGTATGG	0.448000														53			12		0	0	0.00136819	0	0
OR52B6	340980	broad.mit.edu	37	11	5602595	5602595	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5602595C>T	uc010qzi.2	+	0	489	c.489C>T	c.(487-489)atC>atT	p.I163I	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTGGGAAGATCGTCACTGCCG	0.512000														81			37		0	0	0.000781405	0	0
MUC4	4585	broad.mit.edu	37	3	195517925	195517925	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:195517925C>T	uc021xjp.1	-	1	682	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.E58K	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	181					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GATTGTCCTTCCTGTCCAGCT	0.507000														64			13		0	0	0.00185496	0	0
NEB	4703	broad.mit.edu	37	2	152512872	152512872	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:152512872T>C	uc021vrb.1	-	46	6319	c.6290A>G	c.(6289-6291)cAa>cGa	p.Q2097R	NEB_uc002txu.3_Missense_Mutation_p.Q2097R|NEB_uc021vrc.1_Missense_Mutation_p.Q2097R|NEB_uc010fnx.3_Missense_Mutation_p.Q2097R|NEB_uc021vrd.1_Missense_Mutation_p.Q2097R	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	2097					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCGATCAGATTGCATCTTAGC	0.473000														39			13		0	0	0.00136819	0	0
ZNF676	163223	broad.mit.edu	37	19	22363787	22363787	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:22363787C>T	uc002nqs.1	-	2	1050	c.732G>A	c.(730-732)aaG>aaA	p.K244K		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TATGAATTATCTTATGTTTAG	0.363000														31			8		0	0	0.000157383	0	0
COL5A2	1290	broad.mit.edu	37	2	189901342	189901342	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:189901342C>T	uc002uqk.3	-	52	4388	c.4113_splice	c.e52+1	p.Q1371_splice	COL5A2_uc010frx.3_Splice_Site_p.Q947_splice	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	1371	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATTAAATTACCTGAGACCCTC	0.333000														38			9		0	0	0.000442599	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140778357	140778357	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140778357C>T	uc003lkf.2	+	0	663	c.663C>T	c.(661-663)ccC>ccT	p.P221P	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_uc011daw.2_Silent_p.P221P	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	221	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACATCCACCCCTAAGCGGCA	0.537000														69			20		0	0	0.00229938	0	0
COG4	25839	broad.mit.edu	37	16	70557456	70557456	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:70557456C>T	uc002ezc.3	-	1	1	c.-10_splice	c.e1-1		COG4_uc002ezd.3_Splice_Site|COG4_uc010cfu.3_Splice_Site|COG4_uc002eze.3_Splice_Site|SF3B3_uc002ezf.3_5'Flank	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.						Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TTCGGCACTTCCGGTCCCGCG	0.582000														18			9		0	0	0.000442599	0	0
DSC3	1825	broad.mit.edu	37	18	28609486	28609486	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:28609486A>T	uc002kwj.4	-	3	618	c.463T>A	c.(463-465)Ttt>Att	p.F155I	DSC3_uc002kwi.4_Missense_Mutation_p.F155I	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	155	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTTGAAGAAACAATGGGAAA	0.398000														64			11		0	0	0.000673444	0	0
CLVS1	157807	broad.mit.edu	37	8	62289182	62289182	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:62289182C>T	uc003xuh.3	+	2	798	c.474C>T	c.(472-474)atC>atT	p.I158I	CLVS1_uc003xug.2_Missense_Mutation_p.S157F|CLVS1_uc003xui.3_Non-coding_Transcript	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	158	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TCACAGACATCCTTCGTGCCA	0.468000														87			9		0	0	0.000673444	0	0
DSG1	1828	broad.mit.edu	37	18	28918397	28918397	+	Missense_Mutation	SNP	G	A	A	rs148956893		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:28918397G>A	uc002kwp.3	+	9	1597	c.1385G>A	c.(1384-1386)gGa>gAa	p.G462E		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	462	Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.G462E(2)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AAATACCAAGGAACGATTCTC	0.328000														77			9		0	0	0.00136819	0	0
DDX49	54555	broad.mit.edu	37	19	19032556	19032557	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:19032556_19032557GG>AA	uc002nkq.2	+	3	392	c.325_splice	c.e3+1	p.D109_splice	COPE_uc002nkl.3_5'Flank|COPE_uc002nkk.3_5'Flank|COPE_uc002nkm.3_5'Flank|HOMER3_uc002nkp.1_Intron|HOMER3_uc002nko.1_Intron|DDX49_uc002nks.2_Splice_Site_p.D2_splice|DDX49_uc002nkr.2_Splice_Site|DDX49_uc002nkt.1_Splice_Site	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 (DDX49), transcript variant 1, mRNA.	109	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			TCGGTGGCATGGGTACGGGAGC	0.644000														22			7		0	0	6.4e-05	0	0
PHF2P1	266695	broad.mit.edu	37	13	19624104	19624104	+	RNA	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:19624104G>A	uc001umb.1	-	8		c.3379C>T								Homo sapiens PHD finger protein 2 pseudogene 1 (PHF2P1), non-coding RNA.																		CTCACCTGAGGGGATGAAGAG	0.592000														32			8		0	0	0.00185496	0	0
SCCPDH	51097	broad.mit.edu	37	1	246930509	246930509	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:246930509C>T	uc001ibr.3	+	11	1544	c.1197C>T	c.(1195-1197)ttC>ttT	p.F399F		NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	Homo sapiens saccharopine dehydrogenase (putative) (SCCPDH), mRNA.	399						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		GCGGGGTCTTCACACCTGGAG	0.428000														21			9		0	0	0.000442599	0	0
SLC26A1	10861	broad.mit.edu	37	4	985058	985058	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:985058C>T	uc003gcb.3	-	2	812	c.434G>A	c.(433-435)gGc>gAc	p.G145D	SLC26A1_uc003gbx.3_Missense_Mutation_p.G145D|IDUA_uc003gby.3_Intron|IDUA_uc003gbz.3_Intron|IDUA_uc003gca.3_Intron|SLC26A1_uc003gcc.3_Missense_Mutation_p.G145D	NM_213613	NP_998778	Q9H2B4	S26A1_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 1 (SLC26A1), transcript variant 3, mRNA.	145						integral to membrane|plasma membrane	secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|pancreas(1)|prostate(1)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGGGTCAAAGCCGGCCAGCTG	0.662000														14			5		0	0	0.000602214	0	0
DNASE2B	58511	broad.mit.edu	37	1	84880305	84880305	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:84880305C>T	uc001djt.1	+	5	873	c.840C>T	c.(838-840)tcC>tcT	p.S280S	DNASE2B_uc001dju.1_Silent_p.S72S|DNASE2B_uc009wch.1_Silent_p.S72S	NM_021233	NP_067056	Q8WZ79	DNS2B_HUMAN	Homo sapiens deoxyribonuclease II beta (DNASE2B), transcript variant 1, mRNA.	280					DNA metabolic process	lysosome	deoxyribonuclease II activity	p.S280S(1)|p.S72S(1)		endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		CAAACTGCTCCCTTCCTTACC	0.418000														30			15		0	0	0.000958276	0	0
SGCZ	137868	broad.mit.edu	37	8	14095147	14095147	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:14095147C>T	uc003wwq.3	-	3	1038	c.378G>A	c.(376-378)gtG>gtA	p.V126V	SGCZ_uc010lss.3_Silent_p.V79V	NM_139167	NP_631906	Q96LD1	SGCZ_HUMAN	Homo sapiens sarcoglycan, zeta (SGCZ), mRNA.	113					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TTCTTGCATTCACTGTGACAT	0.378000														138			111		0	0	0.000781405	0	0
SAV1	60485	broad.mit.edu	37	14	51107525	51107525	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:51107525G>A	uc001wyh.1	-	3	1231	c.893C>T	c.(892-894)cCa>cTa	p.P298L		NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN	Homo sapiens salvador homolog 1 (Drosophila) (SAV1), mRNA.	298					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					AGTATGATATGGATTTGCAGG	0.438000														35			13		0	0	0.00244969	0	0
AHSG	197	broad.mit.edu	37	3	186338548	186338548	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:186338548G>A	uc003fqk.4	+	6	1014	c.933G>A	c.(931-933)cgG>cgA	p.R311R		NM_001622	NP_001613	P02765	FETUA_HUMAN	Homo sapiens alpha-2-HS-glycoprotein (AHSG), mRNA.	311					acute-phase response|negative regulation of bone mineralization|negative regulation of insulin receptor signaling pathway|pinocytosis|positive regulation of phagocytosis|regulation of inflammatory response|skeletal system development	extracellular space	cysteine-type endopeptidase inhibitor activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(2)|stomach(1)	22	all_cancers(143;3.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.27e-20)	GBM - Glioblastoma multiforme(93;0.0463)		AGTTGCACCGGGCGCACTACG	0.637000														41			10		0	0	0.00185496	0	0
FRYL	285527	broad.mit.edu	37	4	48529500	48529500	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:48529500A>C	uc003gyh.1	-	52	7916	c.7311T>G	c.(7309-7311)gaT>gaG	p.D2437E	FRYL_uc003gyg.1_Missense_Mutation_p.D1133E|FRYL_uc003gyi.1_Missense_Mutation_p.D1325E|FRYL_uc003gyj.1_Missense_Mutation_p.D732E	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2437					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						TTACCTCTGCATCTTCCAATT	0.348000														58			10		0	0	0.000673444	0	0
GPR116	221395	broad.mit.edu	37	6	46874485	46874486	+	Missense_Mutation	DNP	CC	AT	AT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:46874485_46874486CC>AT	uc003oyo.3	-	1	303_304	c.14_15GG>AT	c.(13-15)agg>aAT	p.R5N	GPR116_uc003oyp.3_Missense_Mutation_p.R5N|GPR116_uc003oyq.3_Missense_Mutation_p.R5N|GPR116_uc003oyr.2_Missense_Mutation_p.R5N|BC042990_uc003oys.3_Intron	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	5					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AAGTGGTTCTCCTTGGGGATTT	0.361000														86			21		0	0	6.4e-05	0	0
KIAA1804	84451	broad.mit.edu	37	1	233512202	233512202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:233512202G>A	uc001hvt.4	+	7	2114	c.1853G>A	c.(1852-1854)aGt>aAt	p.S618N	KIAA1804_uc001hvu.4_Missense_Mutation_p.S64N	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	618					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GATGGCAACAGTCCTTGGTCA	0.403000														48			8		0	0	0.000442599	0	0
CYFIP1	23191	broad.mit.edu	37	15	22993143	22993143	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:22993143C>T	uc001yus.3	+	25	3134	c.3030C>T	c.(3028-3030)atC>atT	p.I1010I	CYFIP1_uc001yut.3_Silent_p.I1010I|CYFIP1_uc010aya.1_Silent_p.I1038I|CYFIP1_uc001yuu.3_Silent_p.I579I|CYFIP1_uc001yuv.3_Silent_p.I204I	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	1010					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCCTGCTCATCGAGCAGAGCC	0.672000														31			5		0	0	0.000602214	0	0
EXD1	161829	broad.mit.edu	37	15	41482327	41482327	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:41482327C>T	uc010ucv.2	-	11	1137	c.865_splice	c.e11-1	p.E289_splice	EXD1_uc001znj.3_Silent_p.Q28Q|EXD1_uc001znk.3_Splice_Site_p.E231_splice	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	231					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CTGGATTTTCCTGGAGACAAT	0.448000														27			37		0	0	0.00222228	0	0
TAOK2	9344	broad.mit.edu	37	16	29994207	29994207	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:29994207C>T	uc010bzm.2	+	9	1019	c.984C>T	c.(982-984)gcC>gcT	p.A328A	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Silent_p.A328A|TAOK2_uc021tgf.1_Silent_p.A328A|TAOK2_uc002dva.2_Silent_p.A328A|TAOK2_uc002dvc.2_Silent_p.A328A|TAOK2_uc002dvd.2_Silent_p.A155A	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	328					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GTGCCGAGGCCCCAGAGGAGG	0.612000														54			12		0	0	0.00136819	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86509846	86509846	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:86509846C>T	uc011kha.2	-	22	3216	c.3031_splice	c.e22-1	p.E1011_splice	KIAA1324L_uc003uie.3_Splice_Site_p.E844_splice|KIAA1324L_uc011kgz.2_Splice_Site_p.E897_splice|KIAA1324L_uc003uif.2_Splice_Site_p.E763_splice	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	1011						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TCTTCTTTTTCCTAAGAAAAA	0.333000														54			9		0	0	0.000442599	0	0
FCRLB	127943	broad.mit.edu	37	1	161692490	161692490	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:161692490C>T	uc001gbh.3	+	2	262	c.28C>T	c.(28-30)Ctg>Ttg	p.L10L	FCRLB_uc009wus.3_Silent_p.L10L|FCRLB_uc001gbi.3_Silent_p.L10L|FCRLB_uc001gbj.3_Silent_p.L10L|FCRLB_uc001gbk.3_Silent_p.L10L|FCRLB_uc001gbl.3_Silent_p.L10L|FCRLB_uc001gbm.3_Silent_p.L10L	NM_001002901	NP_001002901	Q6BAA4	FCRLB_HUMAN	Homo sapiens Fc receptor-like B (FCRLB), mRNA.	10						endoplasmic reticulum				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1)	17	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			CCTTCTGCTCCTGGGTGAGTC	0.542000														51			40		0	0	0.00285205	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69014995	69014995	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:69014995G>A	uc010fdg.3	+	3	792	c.373G>A	c.(373-375)Gga>Aga	p.G125R	ARHGAP25_uc010yqk.2_Missense_Mutation_p.G99R|ARHGAP25_uc010yql.2_Intron|ARHGAP25_uc002sev.3_Missense_Mutation_p.G118R|ARHGAP25_uc002sew.3_Missense_Mutation_p.G118R|ARHGAP25_uc002sex.3_Missense_Mutation_p.G118R|ARHGAP25_uc010fdh.1_Non-coding_Transcript	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	125	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.M125T(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GAATCGCATGGGACAGGACTC	0.522000														56			16		0	0	0.00121646	0	0
NLRP5	126206	broad.mit.edu	37	19	56515282	56515282	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:56515282C>T	uc002qmj.3	+	1	263	c.263C>T	c.(262-264)tCt>tTt	p.S88F	NLRP5_uc002qmi.3_Missense_Mutation_p.S88F	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	88	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		AAGAAGAAATCTTCAGAATCG	0.438000														60			17		0	0	0.000422831	0	0
ZNF780A	284323	broad.mit.edu	37	19	40581652	40581652	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:40581652G>A	uc010xvh.2	-	5	848	c.700C>T	c.(700-702)Ctt>Ttt	p.L234F	ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Missense_Mutation_p.L233F|ZNF780A_uc002omz.3_Missense_Mutation_p.L233F	NM_001142577	NP_001136049	O75290	Z780A_HUMAN	Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA.	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AGCAGGGTAAGAAGACTAAAG	0.388000														48			19		0	0	0.000958276	0	0
ANP32C	23520	broad.mit.edu	37	4	165118554	165118554	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:165118554G>A	uc011cjk.2	-	0	310	c.310C>T	c.(310-312)Cca>Tca	p.P104S	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	104								p.P104T(2)		NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		TGTTTCAGTGGCTCTATTGTG	0.438000														51			32		0	0	0.000953801	0	0
FAT3	120114	broad.mit.edu	37	11	92086197	92086197	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:92086197G>A	uc001pdj.4	+	0	936	c.919G>A	c.(919-921)Gat>Aat	p.D307N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	307	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTGGCTGGGGATCCTTTAGA	0.448000										TCGA Ovarian(4;0.039)				155			34		0	0	0.000692331	0	0
GRIK2	2898	broad.mit.edu	37	6	102307252	102307252	+	Silent	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:102307252T>C	uc003pqp.4	+	9	1701	c.1408T>C	c.(1408-1410)Tta>Cta	p.L470L	GRIK2_uc003pqn.3_Silent_p.L470L|GRIK2_uc010kcw.3_Silent_p.L470L|GRIK2_uc003pqo.4_Silent_p.L470L|GRIK2_uc021zdk.1_Silent_p.L470L|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	470					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	CCTCAGAGAGTTATCTACAAT	0.398000														21			20		0	0	0.000958276	0	0
GPR98	84059	broad.mit.edu	37	5	89949105	89949105	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:89949105C>T	uc003kju.3	+	19	3810	c.3714C>T	c.(3712-3714)ccC>ccT	p.P1238P	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1238					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)		ATGATGATCCCTTTGGAGTTT	0.428000														18			5		0	0	0.000602214	0	0
EYS	346007	broad.mit.edu	37	6	66200546	66200546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:66200546C>T	uc011dxu.1	-	4	1341	c.803G>A	c.(802-804)gGa>gAa	p.G268E	EYS_uc003peq.3_Missense_Mutation_p.G268E|EYS_uc003per.1_Missense_Mutation_p.G268E|EYS_uc021zbn.1_Missense_Mutation_p.G268E|EYS_uc010kaj.1_Non-coding_Transcript	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	268	EGF-like 3.				response to stimulus|visual perception	extracellular region	calcium ion binding	p.G268V(3)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GCTGCAGTTTCCATGGAAACA	0.299000														51			5		0	0	0.000157383	0	0
INADL	10207	broad.mit.edu	37	1	62367033	62367033	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:62367033A>G	uc001dab.3	+	23	3397	c.3283A>G	c.(3283-3285)Aat>Gat	p.N1095D	INADL_uc009waf.1_Missense_Mutation_p.N1095D|INADL_uc001daa.2_Missense_Mutation_p.N1095D|INADL_uc001dad.3_Missense_Mutation_p.N792D|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	1095	PDZ 6.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						ACGTCTAAAGAATGGAGAGGA	0.358000														49			15		0	0	0.000308642	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140890536	140890536	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140890536C>T	uc003lla.2	+	3	2631	c.2631C>T	c.(2629-2631)acC>acT	p.T877T	PCDHGC5_uc003lji.2_Silent_p.T864T|PCDHGC5_uc003ljk.2_Silent_p.T865T|PCDHGC5_uc003ljm.2_Silent_p.T865T|PCDHGC5_uc003ljo.2_Silent_p.T860T|PCDHGC5_uc003ljq.2_Silent_p.T864T|PCDHGC5_uc003ljs.2_Silent_p.T864T|PCDHGC5_uc003lju.2_Silent_p.T864T|PCDHGC5_uc003ljw.2_Silent_p.T862T|PCDHGC5_uc003ljy.2_Silent_p.T865T|PCDHGC5_uc003lka.2_Silent_p.T865T|PCDHGC5_uc003lkc.2_Silent_p.T856T|PCDHGC5_uc003lkd.2_Silent_p.T865T|PCDHGC5_uc003lkf.2_Silent_p.T856T|PCDHGC5_uc003lkh.2_Silent_p.T865T|PCDHGC5_uc003lkj.2_Silent_p.T863T|PCDHGC5_uc003lkl.2_Silent_p.T869T|PCDHGC5_uc003lkn.2_Silent_p.T862T|PCDHGC5_uc003lkq.2_Silent_p.T868T|PCDHGC5_uc003lkp.2_Silent_p.T683T|PCDHGC5_uc003lkt.2_Silent_p.T865T|PCDHGC5_uc003lkv.2_Silent_p.T867T|PCDHGC5_uc003lkw.2_Silent_p.T67T|PCDHGC5_uc003lky.2_Silent_p.T871T	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA.	877					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)			GGAGCTCCACCCTGGGAGGGG	0.587000														79			17		0	0	0.00229938	0	0
KRT24	192666	broad.mit.edu	37	17	38857395	38857395	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:38857395C>T	uc002hvd.3	-	2	909	c.852G>A	c.(850-852)gaG>gaA	p.E284E		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	Homo sapiens keratin 24 (KRT24), mRNA.	284	Coil 1B.|Rod.					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)				TTCCTACCTCCTCGTGGTTCT	0.463000														34			35		0	0	0.00170553	0	0
DGKH	160851	broad.mit.edu	37	13	42774011	42774011	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:42774011C>T	uc001uyl.2	+	19	2526	c.2459C>T	c.(2458-2460)tCg>tTg	p.S820L	DGKH_uc010tfh.2_Missense_Mutation_p.S820L|DGKH_uc001uym.2_Missense_Mutation_p.S820L|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Missense_Mutation_p.S575L|DGKH_uc001uyo.2_Missense_Mutation_p.S684L|DGKH_uc010tfj.2_Missense_Mutation_p.S684L|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	820					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTACAGAGATCGTACAAGAAT	0.333000														31			10		0	0	0.000673444	0	0
DDX60L	91351	broad.mit.edu	37	4	169305892	169305892	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:169305892G>A	uc021xuh.1	-	28	4097	c.3987C>T	c.(3985-3987)ccC>ccT	p.P1329P	DDX60L_uc003irq.4_Silent_p.P1329P	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1329	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TTTTTATTTTGGGCAATGGGA	0.473000														4			4		0	0	0.00024832	0	0
CHD3	1107	broad.mit.edu	37	17	7811272	7811272	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7811272G>A	uc002gjd.2	+	33	5266	c.5264G>A	c.(5263-5265)gGg>gAg	p.G1755E	CHD3_uc002gje.2_Missense_Mutation_p.G1696E|CHD3_uc002gjf.2_Missense_Mutation_p.G1662E|CHD3_uc002gjh.2_Missense_Mutation_p.G273E|CHD3_uc002gjj.2_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1696	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CGGTCCAATGGGCGACGAGAG	0.557000														43			7		0	0	0.00198382	0	0
FYCO1	79443	broad.mit.edu	37	3	46009867	46009867	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:46009867T>A	uc011bal.1	-	6	1071	c.959A>T	c.(958-960)cAg>cTg	p.Q320L	FYCO1_uc003cpb.4_Missense_Mutation_p.Q320L	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	320					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)		CTCCAGGCCCTGCAGGCATGT	0.622000														17			13		0	0	0.000308642	0	0
BIVM-ERCC5	100533467	broad.mit.edu	37	13	103510651	103510651	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:103510651G>A	uc001vpu.2	+	13	2039	c.1917G>A	c.(1915-1917)gcG>gcA	p.A639A	BIVM-ERCC5_uc010tjb.2_Silent_p.A185A|BIVM-ERCC5_uc001vpw.3_Silent_p.A185A|BIVM-ERCC5_uc010tjc.1_Non-coding_Transcript|BIVM-ERCC5_uc010tjd.1_Silent_p.A17A	NM_001204425	NP_001191354	Q59FZ7	Q59FZ7_HUMAN	Homo sapiens BIVM-ERCC5 readthrough (BIVM-ERCC5), mRNA.	610					nucleotide-excision repair	nucleus	endonuclease activity|single-stranded DNA binding										ATCCTCAAGCGATAGATATTG	0.368000														44			13		0	0	0.000308642	0	0
KIF13B	23303	broad.mit.edu	37	8	28997989	28997989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:28997989C>T	uc003xhh.4	-	19	2539	c.2480G>A	c.(2479-2481)gGa>gAa	p.G827E	AF086219_uc003xhi.1_Non-coding_Transcript	NM_015254	NP_056069	Q9NQT8	KI13B_HUMAN	Homo sapiens kinesin family member 13B (KIF13B), mRNA.	827					T cell activation|microtubule-based movement|protein targeting|signal transduction	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ACCAACCTCTCCTTTCTGGTT	0.413000														42			6		0	0	0.00198382	0	0
SELP	6403	broad.mit.edu	37	1	169576250	169576250	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:169576250C>T	uc001ggi.4	-	8	1521	c.1456G>A	c.(1456-1458)Gga>Aga	p.G486R	SELP_uc001ggh.3_Missense_Mutation_p.G321R|SELP_uc009wvr.3_Missense_Mutation_p.G486R	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	486	Sushi 5.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	ACACTTGCTCCCACCAGGAGC	0.493000														45			10		0	0	0.000978159	0	0
PTPRR	5801	broad.mit.edu	37	12	71286612	71286612	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:71286612G>A	uc001swi.2	-	1	618	c.204C>T	c.(202-204)tcC>tcT	p.S68S		NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	68					in utero embryonic development	Golgi apparatus|cell surface|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CTTCGGAAGAGGAATGGTAGC	0.458000														58			12		0	0	0.00185496	0	0
KDM6B	23135	broad.mit.edu	37	17	7753164	7753164	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7753164C>T	uc002gix.3	+	1	2209	c.1372C>T	c.(1372-1374)Cga>Tga	p.R458*	KDM6B_uc002giw.1_Nonsense_Mutation_p.R1156*	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	1156	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.R1156*(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						AGGGAAGTTTCGAGAGTCCTA	0.547000														34			29		0	0	0.00178596	0	0
SERPINA10	51156	broad.mit.edu	37	14	94754734	94754734	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:94754734C>T	uc001yct.3	-	2	1347	c.881G>A	c.(880-882)gGa>gAa	p.G294E	SERPINA10_uc001ycu.4_Missense_Mutation_p.G294E	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	294					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.G294R(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GGTGGCATTTCCTTGGTAGGG	0.502000														19			12		0	0	0.000978159	0	0
ZEB1	6935	broad.mit.edu	37	10	31791356	31791356	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:31791356G>A	uc001ivs.4	+	3	463	c.400G>A	c.(400-402)Gac>Aac	p.D134N	ZEB1_uc001ivr.4_5'UTR|ZEB1_uc010qef.2_5'UTR|ZEB1_uc009xlh.1_Non-coding_Transcript|ZEB1_uc009xli.1_Non-coding_Transcript|ZEB1_uc009xlj.1_Intron|ZEB1_uc010qeg.1_Intron|ZEB1_uc009xlk.1_5'UTR|ZEB1_uc001ivu.4_Missense_Mutation_p.D135N|ZEB1_uc010qeh.2_Missense_Mutation_p.D67N|ZEB1_uc001ivv.4_Missense_Mutation_p.D114N|ZEB1_uc001ivt.4_5'UTR|ZEB1_uc009xll.2_Non-coding_Transcript|ZEB1_uc009xlm.1_Non-coding_Transcript|ZEB1_uc009xln.1_Non-coding_Transcript|ZEB1_uc009xlo.2_Missense_Mutation_p.D117N|ZEB1_uc009xlp.3_Missense_Mutation_p.D118N	NM_030751	NP_110378	P37275	ZEB1_HUMAN	Homo sapiens zinc finger E-box binding homeobox 1 (ZEB1), transcript variant 2, mRNA.	134					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ACAACAACAAGACACTGCTGT	0.403000														51			11		0	0	0.00136819	0	0
CAPN10	11132	broad.mit.edu	37	2	241535876	241535876	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:241535876C>T	uc002vzk.2	+	7	1615	c.1419C>T	c.(1417-1419)ttC>ttT	p.F473F	CAPN10_uc002vzp.2_Non-coding_Transcript|CAPN10_uc002vzm.2_Intron|CAPN10_uc002vzl.2_Intron|CAPN10_uc002vzn.2_Silent_p.F345F|CAPN10_uc002vzo.2_Non-coding_Transcript|CAPN10_uc010fzg.2_Non-coding_Transcript|CAPN10_uc002vzq.2_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	473	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		CCAGCACCTTCCTGAAGGACG	0.662000														25			5		0	0	0.000602214	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677573	37677573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:37677573C>T	uc002ofq.3	-	4	1118	c.866G>A	c.(865-867)cGa>cAa	p.R289Q	ZNF585B_uc002ofr.1_Missense_Mutation_p.R103Q	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATGAATTCTTCGGTGTGCAAT	0.408000														108			28		0	0	0.00106085	0	0
INO80D	54891	broad.mit.edu	37	2	206921529	206921529	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:206921529G>A	uc002vaz.4	-	3	762	c.357C>T	c.(355-357)gcC>gcT	p.A119A		NM_017759	NP_060229	Q53TQ3	IN80D_HUMAN	Homo sapiens INO80 complex subunit D (INO80D), mRNA.	119					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						GCATCTTCAAGGCCAACGTGG	0.512000														18			5		0	0	0.000602214	0	0
FKBPL	63943	broad.mit.edu	37	6	32096866	32096866	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:32096866C>T	uc003nzr.3	-	1	962	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Missense_Mutation_p.R231Q	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	Homo sapiens FK506 binding protein like (FKBPL), mRNA.	231					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity	p.R231Q(1)									TCCATAGCATCGGGCAGCTCC	0.587000														287			39		0	0	0.00128727	0	0
PKD1L1	168507	broad.mit.edu	37	7	47947802	47947802	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:47947802C>T	uc003tny.2	-	8	1308	c.1274G>A	c.(1273-1275)gGa>gAa	p.G425E		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	425					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CACTTCGGTTCCATGAAACTC	0.418000														57			10		0	0	0.00136819	0	0
COL6A6	131873	broad.mit.edu	37	3	130293223	130293223	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:130293223C>T	uc010htl.3	+	6	3432	c.3401C>T	c.(3400-3402)tCc>tTc	p.S1134F		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1134	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GACATCTACTCCGTGGGCATT	0.562000														26			4		0	0	0.00024832	0	0
NDUFS7	374291	broad.mit.edu	37	19	1390905	1390905	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:1390905C>G	uc002lsf.2	+	5	565	c.456C>G	c.(454-456)tgC>tgG	p.C152W	NDUFS7_uc002lsh.3_Missense_Mutation_p.C152W|NDUFS7_uc002lsg.2_Missense_Mutation_p.C95W|NDUFS7_uc002lse.4_Missense_Mutation_p.C88W			O75251	NDUS7_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase) (NDUFS7), nuclear gene encoding mitochondrial protein, mRNA.	88					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|NADH dehydrogenase (ubiquinone) activity|metal ion binding|protein binding|quinone binding			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		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)	NADH(DB00157)	GCCTGGCCTGCTGCGCCGTGG	0.697000														19			3		0	0	0.00024832	0	0
ANO4	121601	broad.mit.edu	37	12	101505353	101505353	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:101505353G>A	uc010svm.1	+	23	2887	c.2315G>A	c.(2314-2316)gGa>gAa	p.G772E	ANO4_uc001thw.2_Missense_Mutation_p.G737E|ANO4_uc001thx.2_Missense_Mutation_p.G772E|ANO4_uc001thy.2_Missense_Mutation_p.G292E	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	772						chloride channel complex	chloride channel activity	p.G771G(1)|p.G771V(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ATTTGGTATGGAATTCTTGAA	0.318000										HNSCC(74;0.22)				40			13		0	0	0.000308642	0	0
TRAT1	50852	broad.mit.edu	37	3	108565969	108565969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:108565969G>A	uc003dxi.1	+	3	351	c.207G>A	c.(205-207)atG>atA	p.M69I	TRAT1_uc010hpx.1_Missense_Mutation_p.M32I	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	69					T cell receptor signaling pathway|cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of T cell receptor signaling pathway|positive regulation of calcium-mediated signaling	T cell receptor complex|integral to plasma membrane	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						TAGATGATATGATTTCAGGTA	0.274000														69			15		0	0	0.000422831	0	0
GPR98	84059	broad.mit.edu	37	5	90002143	90002143	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:90002143C>T	uc003kju.3	+	37	8758	c.8662C>T	c.(8662-8664)Cct>Tct	p.P2888S	GPR98_uc003kjt.3_Missense_Mutation_p.P594S|GPR98_uc003kjv.3_Missense_Mutation_p.P488S	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2888	Calx-beta 20.				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)		TGATTTTGTCCCTATCATTGG	0.398000														25			7		0	0	0.00198382	0	0
CHL1	10752	broad.mit.edu	37	3	430960	430960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:430960G>A	uc003bot.3	+	19	2915	c.2273G>A	c.(2272-2274)gGa>gAa	p.G758E	CHL1_uc003bou.3_Missense_Mutation_p.G742E|CHL1_uc003bow.2_Missense_Mutation_p.G742E|CHL1_uc011asi.2_Missense_Mutation_p.G758E	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	742	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		gagcagaatggaccaggccta	0.498000														5			3		0	0	6.4e-05	0	0
ADTRP	84830	broad.mit.edu	37	6	11778910	11778911	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:11778910_11778911CC>TT	uc011dip.2	-	0	370_371	c.82_83GG>AA	c.(82-84)gga>AAa	p.G28K	ADTRP_uc003nab.3_Missense_Mutation_p.G28K	NM_001143948	NP_001137420	Q96IZ2	CF105_HUMAN	Homo sapiens chromosome 6 open reading frame 105 (C6orf105), transcript variant 1, mRNA.	28						integral to membrane											CTCGTCTTTTCCTTCCTGTGAG	0.455000														178			28		0	0	6.4e-05	0	0
SSPO	23145	broad.mit.edu	37	7	149523216	149523216	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:149523216G>A	uc010lpk.3	+	99	14275	c.14275G>A	c.(14275-14277)Ggg>Agg	p.G4759R	SSPO_uc010lpm.1_Non-coding_Transcript|SSPO_uc003wgg.2_Intron|SSPO_uc003wgh.2_Non-coding_Transcript|SSPO_uc003wgi.1_Non-coding_Transcript	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4767					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCAGTCCTTGGGCCTTGGTC	0.627000														28			10		0	0	0.000673444	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5653872	5653872	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5653872T>G	uc001mbh.3	+	1	468	c.311T>G	c.(310-312)cTc>cGc	p.L104R	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Missense_Mutation_p.L458R|TRIM6-TRIM34_uc001mbi.3_Missense_Mutation_p.L104R|TRIM6-TRIM34_uc001mbj.3_Missense_Mutation_p.L104R	NM_001003827	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 34 (TRIM34), transcript variant 4, mRNA.	458						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		GGAGAGAAACTCCTACTCTTC	0.493000														13			3		0	0	6.4e-05	0	0
MYO15A	51168	broad.mit.edu	37	17	18043974	18043974	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:18043974G>A	uc021trm.1	+	18	5574	c.5355G>A	c.(5353-5355)atG>atA	p.M1785I	MYO15A_uc021trl.1_Missense_Mutation_p.M1783I	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1785	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	ATP binding|actin binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGGAAAAGATGGAGAGGTGGG	0.612000											OREG0024223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		62			15		0	0	0.00121646	0	0
SERPINB11	89778	broad.mit.edu	37	18	61383355	61383355	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:61383355G>A	uc002ljk.4	+	5	612	c.441G>A	c.(439-441)acG>acA	p.T147T	SERPINB11_uc010xes.2_Intron|SERPINB11_uc010dqd.3_Silent_p.T34T|SERPINB11_uc002ljj.4_Silent_p.T34T|SERPINB11_uc010dqe.3_Intron|SERPINB11_uc010dqf.3_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	148					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CGAGGAAAACGATTAATGCTT	0.368000														27			8		0	0	0.000978159	0	0
PRLR	5618	broad.mit.edu	37	5	35065495	35065495	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:35065495G>A	uc003jjm.3	-	9	2124	c.1565C>T	c.(1564-1566)tCa>tTa	p.S522L	PRLR_uc003jjk.1_Intron|PRLR_uc003jjg.2_Intron|PRLR_uc003jjh.2_Intron|PRLR_uc003jji.2_Intron|PRLR_uc003jjj.2_Intron|PRLR_uc003jjl.4_Missense_Mutation_p.S421L|PRLR_uc021xxl.1_Intron	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	522					T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGGTAGCAATGATAATGCACC	0.517000														66			14		0	0	0.000308642	0	0
TMC5	79838	broad.mit.edu	37	16	19475205	19475205	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:19475205C>T	uc002dgc.4	+	7	2093	c.1344C>T	c.(1342-1344)tcC>tcT	p.S448S	TMC5_uc010vaq.2_Silent_p.S448S|TMC5_uc002dgb.4_Silent_p.S448S|TMC5_uc010var.2_Silent_p.S448S|TMC5_uc002dgd.1_Silent_p.S202S|TMC5_uc002dge.4_Silent_p.S202S|TMC5_uc002dgf.4_Silent_p.S131S|TMC5_uc002dgg.4_Silent_p.S89S	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	448						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCGTCCTCTCCTATTTCAACT	0.443000														38			7		0	0	0.00198382	0	0
C7orf31	136895	broad.mit.edu	37	7	25176355	25176356	+	Nonsense_Mutation	DNP	GG	AA	AA	rs146941527	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:25176355_25176356GG>AA	uc003sxn.1	-	9	1569_1570	c.1008_1009CC>TT	c.(1006-1011)gcccga>gcTTga	p.R337*		NM_138811	NP_620166	Q8N865	CG031_HUMAN	Homo sapiens chromosome 7 open reading frame 31 (C7orf31), mRNA.	337										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TGAATTAATCGGGCAATTCGTC	0.426000														164			23		0	0	6.4e-05	0	0
OR2C3	81472	broad.mit.edu	37	1	247695139	247695139	+	Silent	SNP	G	A	A	rs149975458		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:247695139G>A	uc021pmb.1	-	0	675	c.675C>T	c.(673-675)gcC>gcT	p.A225A	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.A225A	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V225M(1)		breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TCTTCAACACGGCCCGGGCAA	0.537000														23			8		0	0	0.000442599	0	0
POU6F2	11281	broad.mit.edu	37	7	39504282	39504282	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:39504282C>T	uc003thb.2	+	10	2216	c.2073C>T	c.(2071-2073)tcC>tcT	p.S691S	POU6F2_uc022acb.1_Silent_p.S655S	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	691					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S691F(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						AAGAAAACTCCTAAAGAGATG	0.433000														14			5		0	0	0.000602214	0	0
ABCA3	21	broad.mit.edu	37	16	2354107	2354107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:2354107C>T	uc002cpy.1	-	11	2042	c.1330G>A	c.(1330-1332)Gac>Aac	p.D444N	ABCA3_uc010bsk.1_Missense_Mutation_p.D386N|ABCA3_uc010bsl.1_Missense_Mutation_p.D444N	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	444					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.D444N(2)		breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AAGTCGTCGTCCACGTTGACG	0.632000														45			21		0	0	0.000720815	0	0
TMEM120B	144404	broad.mit.edu	37	12	122213562	122213562	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:122213562C>T	uc001ubc.4	+	11	1098	c.954C>T	c.(952-954)ttC>ttT	p.F318F	TMEM120B_uc009zxh.3_3'UTR|TMEM120B_uc001uba.1_5'Flank	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN	Homo sapiens transmembrane protein 120B (TMEM120B), mRNA.	318						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TCGGCAACTTCCTGACCACGC	0.617000											OREG0022207	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		65			13		0	0	0.00185496	0	0
GABRB1	2560	broad.mit.edu	37	4	47427898	47427898	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:47427898C>T	uc003gxh.3	+	8	1662	c.1288C>T	c.(1288-1290)Cgc>Tgc	p.R430C	GABRB1_uc011bze.2_Missense_Mutation_p.R360C	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	430					synaptic transmission	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(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGGGCGCATCCGCAGGCGTGC	0.607000														22			7		0	0	0.000157383	0	0
NALCN	259232	broad.mit.edu	37	13	101890181	101890181	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:101890181G>A	uc001vox.1	-	11	1548	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	NALCN_uc001voy.3_Silent_p.F168F|NALCN_uc001voz.2_Silent_p.F453F|NALCN_uc001vpa.2_Silent_p.F453F	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	453						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.F453F(2)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTAGTAGTTCGAATTTGTGGA	0.348000														94			38		0	0	0.000953801	0	0
YARS2	51067	broad.mit.edu	37	12	32908768	32908768	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:32908768C>T	uc001rli.3	-	0	120	c.41G>A	c.(40-42)tGg>tAg	p.W14*		NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN	Homo sapiens tyrosyl-tRNA synthetase 2, mitochondrial (YARS2), nuclear gene encoding mitochondrial protein, mRNA.	14					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|RNA binding|protein binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	GGTACCAGACCACCGGCCCCA	0.617000											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		25			6		0	0	0.00116845	0	0
SF3B1	23451	broad.mit.edu	37	2	198266186	198266186	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:198266186G>A	uc002uue.3	-	16	2482	c.2434C>T	c.(2434-2436)Cct>Tct	p.P812S	SNORD2_uc021vul.1_5'Flank	NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	812					nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AAAAAGGGAGGAAGAATCTCT	0.348000			Mis		myelodysplastic syndrome									55			23		0	0	0.00278032	0	0
LDB2	9079	broad.mit.edu	37	4	16900071	16900071	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:16900071G>A	uc003goz.3	-	0	354	c.38C>T	c.(37-39)cCt>cTt	p.P13L	LDB2_uc003gpa.3_Missense_Mutation_p.P13L|LDB2_uc011bxh.2_Missense_Mutation_p.P13L|LDB2_uc003gpb.3_Missense_Mutation_p.P13L|LDB2_uc010iee.3_Missense_Mutation_p.P13L	NM_001290	NP_001281	O43679	LDB2_HUMAN	Homo sapiens LIM domain binding 2 (LDB2), transcript variant 1, mRNA.	13							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TGGGCCGAAAGGAGAAGAATA	0.463000														14			7		0	0	0.000157383	0	0
RP1	6101	broad.mit.edu	37	8	55539065	55539065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:55539065G>A	uc003xsd.1	+	3	2771	c.2623G>A	c.(2623-2625)Gat>Aat	p.D875N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	875					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACGTAAAGGGGATAAAGTGAA	0.358000														62			18		0	0	0.000958276	0	0
REG1B	5968	broad.mit.edu	37	2	79314026	79314026	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:79314026G>A	uc002sny.2	-	2	207	c.95C>T	c.(94-96)cCc>cTc	p.P32L	REG1B_uc010ffv.1_Missense_Mutation_p.P32L|REG1B_uc010ffw.3_Missense_Mutation_p.P32L	NM_006507	NP_006498	P48304	REG1B_HUMAN	Homo sapiens regenerating islet-derived 1 beta (REG1B), mRNA.	32					cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						GCTGATTCGGGGATTAGGCAG	0.493000														37			9		0	0	0.00244969	0	0
CPAMD8	27151	broad.mit.edu	37	19	17104366	17104366	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:17104366C>T	uc002nfb.3	-	11	1299	c.1267G>A	c.(1267-1269)Gct>Act	p.A423T		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	376						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACCCCCTCAGCTGGGCTGCCA	0.517000														20			4		0	0	0.00116845	0	0
NGEF	25791	broad.mit.edu	37	2	233756123	233756123	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:233756123G>A	uc002vts.2	-	7	1465	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	NGEF_uc010zmm.1_Missense_Mutation_p.S129F|NGEF_uc010fyg.1_Missense_Mutation_p.S314F	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.	406	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GAGGAAGGAGGAGAAGGGCAG	0.622000														31			9		0	0	0.000442599	0	0
FURIN	5045	broad.mit.edu	37	15	91419086	91419086	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:91419086C>T	uc002bpu.1	+	1	332	c.116C>T	c.(115-117)cCt>cTt	p.P39L		NM_002569	NP_002560	P09958	FURIN_HUMAN	Homo sapiens furin (paired basic amino acid cleaving enzyme) (FURIN), mRNA.	39					Notch signaling pathway|cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	Golgi lumen|Golgi membrane|cell surface|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GTGCGCATCCCTGGAGGCCCA	0.622000														72			19		0	0	0.00229938	0	0
DSG1	1828	broad.mit.edu	37	18	28926100	28926100	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:28926100C>T	uc002kwp.3	+	13	2251	c.2039C>T	c.(2038-2040)tCt>tTt	p.S680F	DSG1_uc010xbp.2_Missense_Mutation_p.S39F|U6_uc021uin.1_5'Flank	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	680					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.S680Y(2)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGAAGAAATTCTATGAGGGAA	0.418000														42			22		0	0	0.000720815	0	0
NR5A2	2494	broad.mit.edu	37	1	200090049	200090049	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:200090049C>T	uc001gvb.3	+	6	1550	c.1344C>T	c.(1342-1344)ttC>ttT	p.F448F	NR5A2_uc001gvc.3_Silent_p.F402F|NR5A2_uc009wzh.3_Silent_p.F408F|NR5A2_uc010pph.2_Silent_p.F376F	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	448					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					AACGAGAGTTCGTATGTCTGA	0.413000														74			13		0	0	0.00136819	0	0
TNR	7143	broad.mit.edu	37	1	175375553	175375553	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:175375553C>T	uc001gkp.1	-	0	379	c.298G>A	c.(298-300)Gag>Aag	p.E100K	TNR_uc009wwu.1_Missense_Mutation_p.E100K|TNR_uc010pmz.1_Missense_Mutation_p.E100K	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	100					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCCATGTACTCTGCCAGAGTC	0.562000														41			13		0	0	0.00136819	0	0
ACLY	47	broad.mit.edu	37	17	40063723	40063724	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:40063723_40063724GG>AA	uc002hyg.3	-	6	881_882	c.718_719CC>TT	c.(718-720)ccc>TTc	p.P240F	ACLY_uc002hyh.3_Missense_Mutation_p.P240F|ACLY_uc002hyi.3_Missense_Mutation_p.P294F|ACLY_uc010wfx.2_Missense_Mutation_p.P294F|ACLY_uc010wfy.2_Intron	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	240					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)				CCCGAAGGGGGGAGGGAACTCG	0.579000														70			8		0	0	6.4e-05	0	0
KRTAP3-3	85293	broad.mit.edu	37	17	39150152	39150152	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:39150152G>C	uc002hvr.1	-	0	234	c.198C>G	c.(196-198)ttC>ttG	p.F66L		NM_033185	NP_149441	Q9BYR6	KRA33_HUMAN	Homo sapiens keratin associated protein 3-3 (KRTAP3-3), mRNA.	66						keratin filament	structural molecule activity			lung(2)|prostate(2)	4		Breast(137;0.00043)				AGTTGAGCAGGAAGCAGGTGG	0.617000														57			12		0	0	0.000978159	0	0
KRTAP24-1	643803	broad.mit.edu	37	21	31655091	31655091	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:31655091T>G	uc002ynv.3	-	0	186	c.160A>C	c.(160-162)Aat>Cat	p.N54H		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA.	54						keratin filament	structural molecule activity			breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AGCCAGAGATTTCCTTGGTAG	0.493000														26			11		0	0	0.00244969	0	0
GALNTL2	117248	broad.mit.edu	37	3	16217066	16217066	+	Silent	SNP	G	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:16217066G>C	uc003car.4	+	0	883	c.408G>C	c.(406-408)ggG>ggC	p.G136G	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.	136						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						GGGACTGGGGGGCTGATGAGG	0.637000														16			4		0	0	0.000602214	0	0
PXDN	7837	broad.mit.edu	37	2	1651988	1651988	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:1651988C>T	uc002qxa.3	-	16	3628	c.3564G>A	c.(3562-3564)ctG>ctA	p.L1188L		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	1188					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCTCATTTTTCAGGTCCTCGA	0.562000														89			22		0	0	0.000586117	0	0
RALYL	138046	broad.mit.edu	37	8	85686847	85686847	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:85686847G>A	uc003yct.4	+	2	463	c.329G>A	c.(328-330)aGa>aAa	p.R110K	RALYL_uc003ycq.4_Missense_Mutation_p.R97K|RALYL_uc003ycr.4_Missense_Mutation_p.R97K|RALYL_uc003ycs.4_Missense_Mutation_p.R97K|RALYL_uc010lzy.3_Missense_Mutation_p.R97K|RALYL_uc003ycu.4_Missense_Mutation_p.R24K	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	97							RNA binding|identical protein binding|nucleotide binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						AAACCATACAGACCAAAACCT	0.353000														13			9		0	0	0.000673444	0	0
PLEKHO1	51177	broad.mit.edu	37	1	150131292	150131292	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:150131292C>T	uc001ett.3	+	5	1082	c.804C>T	c.(802-804)cgC>cgT	p.R268R	PLEKHO1_uc001ets.3_Silent_p.R85R|PLEKHO1_uc001etu.3_Silent_p.R96R|PLEKHO1_uc021oyc.1_Silent_p.R85R	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 1 (PLEKHO1), mRNA.	268	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)			AGAAAGGCCGCTGCGCCTCCC	0.647000														15			5		0	0	0.00198382	0	0
CACNA1E	777	broad.mit.edu	37	1	181689349	181689349	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:181689349G>A	uc009wxt.3	+	13	1954	c.1759G>A	c.(1759-1761)Gct>Act	p.A587T	CACNA1E_uc001gow.3_Missense_Mutation_p.A587T|CACNA1E_uc009wxs.3_Missense_Mutation_p.A587T	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	587					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TAGGTATTGGGCTTCCCTACG	0.463000														32			9		0	0	0.000673444	0	0
ARF1	375	broad.mit.edu	37	1	228284827	228284827	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:228284827C>T	uc001hrs.3	+	1	155	c.12C>T	c.(10-12)atC>atT	p.I4I	ARF1_uc001hrr.3_Silent_p.I4I|ARF1_uc001hru.3_Silent_p.I4I|ARF1_uc001hrv.3_Silent_p.I4I|MIR3620_uc021pkd.1_5'Flank	NM_001658	NP_001649	P84077	ARF1_HUMAN	Homo sapiens ADP-ribosylation factor 1 (ARF1), transcript variant 4, mRNA.	4					COPI coating of Golgi vesicle|cellular copper ion homeostasis|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	Golgi membrane|cytosol|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity	p.I4M(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				TGGGGAACATCTTCGCCAACC	0.547000														60			11		0	0	0.00185496	0	0
HECW2	57520	broad.mit.edu	37	2	197208412	197208412	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:197208412C>T	uc002utm.1	-	2	552	c.369G>A	c.(367-369)tgG>tgA	p.W123*	HECW2_uc002utl.1_5'UTR	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	123					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCTCAATTCTCCATACAATTT	0.373000														136			63		0	0	0.000781405	0	0
PEX1	5189	broad.mit.edu	37	7	92129126	92129126	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:92129126G>A	uc003uly.3	-	15	2706	c.2610C>T	c.(2608-2610)ccC>ccT	p.P870P	PEX1_uc011khr.2_Silent_p.P662P|PEX1_uc010ley.3_Silent_p.P813P|PEX1_uc011khs.2_Silent_p.P548P|PEX1_uc011kht.1_Non-coding_Transcript	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	870					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	p.P870S(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TTTGTCGTATGGGCAAGTTTG	0.358000														110			20		0	0	0.00152264	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011477	105011477	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:105011477G>A	uc004elz.1	+	10	2640	c.1884G>A	c.(1882-1884)acG>acA	p.T628T		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	628					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TACCAGCCACGACCTTGCCAG	0.473000														41			15		0	0	0.000958276	0	0
DSG3	1830	broad.mit.edu	37	18	29054139	29054139	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:29054139G>A	uc002kws.3	+	14	2266	c.2157G>A	c.(2155-2157)atG>atA	p.M719I	DSG3_uc002kwt.3_Missense_Mutation_p.M1I	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	719					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTTCAGGAATGGAAATGACCA	0.478000														46			16		0	0	0.00121646	0	0
ZNF546	339327	broad.mit.edu	37	19	40520528	40520528	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:40520528C>T	uc002oms.2	+	6	1607	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C	ZNF546_uc002omt.2_Missense_Mutation_p.R425C	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	Homo sapiens zinc finger protein 546 (ZNF546), mRNA.	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					AAAAGCCTTTCGTCTTCAAAC	0.403000														35			5		0	0	0.000602214	0	0
UNK	85451	broad.mit.edu	37	17	73808213	73808213	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:73808213C>T	uc002jpm.3	+	3	563	c.563C>T	c.(562-564)aCc>aTc	p.T188I	UNK_uc021udd.1_Missense_Mutation_p.T112I	NM_001080419	NP_001073888	Q9C0B0	UNK_HUMAN	Homo sapiens unkempt homolog (Drosophila) (UNK), transcript variant 1, mRNA.	112							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)			CTGCACAGAACCACAGGGGAC	0.567000														27			5		0	0	0.000602214	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202483828	202483828	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:202483828C>T	uc002uyf.3	-	0	78	c.26G>A	c.(25-27)aGg>aAg	p.R9K	ALS2CR11_uc002uye.3_Missense_Mutation_p.R9K|ALS2CR11_uc010fti.3_Missense_Mutation_p.R9K|ALS2CR11_uc021vvc.1_Missense_Mutation_p.R9K	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	9										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						GCTGAAAGGCCTATTTGTCTC	0.627000														45			9		0	0	0.000442599	0	0
HMGCR	3156	broad.mit.edu	37	5	74647374	74647374	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:74647374C>T	uc011cst.2	+	10	1627	c.1375C>T	c.(1375-1377)Ccc>Tcc	p.P459S	HMGCR_uc003kdp.3_Missense_Mutation_p.P439S|HMGCR_uc003kdq.3_Missense_Mutation_p.P439S	NM_000859	NP_000850	P04035	HMDH_HUMAN	Homo sapiens 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), transcript variant 1, mRNA.	439	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	NADP binding|hydroxymethylglutaryl-CoA reductase (NADPH) activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	AATTGAACTTCCCAGGGAACC	0.423000														178			47		0	0	0.000781405	0	0
GEMIN4	50628	broad.mit.edu	37	17	650806	650806	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:650806G>A	uc002frs.1	-	1	596	c.477C>T	c.(475-477)ttC>ttT	p.F159F	GEMIN4_uc010vqa.1_Silent_p.F159F	NM_015721	NP_056536	P57678	GEMI4_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 4 (GEMIN4), mRNA.	159					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CGTCCAGGAAGAAGGCCACGT	0.582000														38			64		0	0	0.000781405	0	0
HECW2	57520	broad.mit.edu	37	2	197081767	197081767	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:197081767T>A	uc002utm.1	-	26	4642	c.4459A>T	c.(4459-4461)Aga>Tga	p.R1487*	HECW2_uc002utl.1_Nonsense_Mutation_p.R1131*	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	1487	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TTGTTGAATCTTTCCACTGCA	0.328000														79			20		0	0	0.000586117	0	0
SLC22A5	6584	broad.mit.edu	37	5	131726450	131726450	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:131726450T>G	uc003kwx.4	+	7	1457	c.1193T>G	c.(1192-1194)gTg>gGg	p.V398G	SLC22A5_uc003kww.4_Missense_Mutation_p.V374G|SLC22A5_uc010jdr.1_Intron	NM_003060	NP_003051	O76082	S22A5_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.	374			P -> L (in CDSP).		positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|PDZ domain binding|carnitine transporter activity|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GACATCTTTGTGAACTGCTTC	0.502000														54			14		0	0	0.00244969	0	0
KBTBD3	143879	broad.mit.edu	37	11	105929663	105929663	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:105929663G>A	uc001pja.3	-	2	802	c.162C>T	c.(160-162)ttC>ttT	p.F54F	KBTBD3_uc001pjb.3_Silent_p.F54F|KBTBD3_uc009yxm.3_Intron	NM_198439	NP_940841	Q8NAB2	KBTB3_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 3 (KBTBD3), transcript variant 2, mRNA.	50	BTB.							p.F54L(4)		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)		TAATTATTTTGAAATCATAAA	0.328000														44			9		0	0	0.000274275	0	0
OR5D13	390142	broad.mit.edu	37	11	55541386	55541386	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:55541386C>T	uc010ril.2	+	0	473	c.473C>T	c.(472-474)tCc>tTc	p.S158F		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S158S(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ATAGTGTGCTCCCTGATACTC	0.408000														52			10		0	0	0.000673444	0	0
RHAG	6005	broad.mit.edu	37	6	49604504	49604504	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:49604504T>C	uc003ozk.4	-	0	84	c.22A>G	c.(22-24)Atg>Gtg	p.M8V	RHAG_uc010jzl.3_Missense_Mutation_p.M8V|RHAG_uc010jzm.3_Missense_Mutation_p.M8V	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	8					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					ACTATAGCCATGAGAGGGAAT	0.448000														67			8		0	0	0.000274275	0	0
MXRA5	25878	broad.mit.edu	37	X	3240517	3240517	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:3240517C>T	uc004crg.4	-	4	3366	c.3209G>A	c.(3208-3210)gGa>gAa	p.G1070E		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1070						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TAGCATATTTCCTCCCTGTAG	0.458000														36			10		0	0	0.000673444	0	0
SLCO1B3	28234	broad.mit.edu	37	12	21015456	21015456	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:21015456G>A	uc010sil.2	+	4	657	c.592G>A	c.(592-594)Gat>Aat	p.D198N	SLCO1B3_uc001rek.3_Missense_Mutation_p.D198N|SLCO1B3_uc001rel.3_Missense_Mutation_p.D198N|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	198					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ATACATTGATGATTTTGCAAA	0.378000														36			11		0	0	0.000978159	0	0
FAM188B	84182	broad.mit.edu	37	7	30951875	30951875	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:30951875C>T	uc003tbv.2	+	0	461	c.351C>T	c.(349-351)tcC>tcT	p.S117S	FAM188B_uc011kac.1_Silent_p.S177S	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	131										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCATCACCTCCTCCCTGACTG	0.607000														63			5		0	0	0.00116845	0	0
RAG1	5896	broad.mit.edu	37	11	36596622	36596622	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:36596622C>T	uc021qgb.1	+	0	1768	c.1768C>T	c.(1768-1770)Ctg>Ttg	p.L590L	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Silent_p.L590L	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	590					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TGATGATTACCTGAATGGCCC	0.493000									Familial Hemophagocytic Lymphohistiocytosis					21			4		0	0	0.00024832	0	0
FCGBP	8857	broad.mit.edu	37	19	40424009	40424009	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:40424009C>T	uc002omp.4	-	3	2202	c.2194G>A	c.(2194-2196)Gtt>Att	p.V732I		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	732			V -> A (in dbSNP:rs34181317).			extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CAGTCCCCAACCGAGATGCCA	0.617000														31			5		0	0	0.000157383	0	0
TMEM130	222865	broad.mit.edu	37	7	98452871	98452871	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:98452871G>A	uc003upo.3	-	4	984	c.795C>T	c.(793-795)ttC>ttT	p.F265F	TMEM130_uc011kiq.2_Silent_p.F246F|TMEM130_uc011kir.2_Silent_p.F265F|TMEM130_uc003upn.3_Silent_p.F163F	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	265						Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACCTCCCCAGGAAGTTCAAGG	0.572000														70			8		0	0	0.000673444	0	0
LOC442459	442459	broad.mit.edu	37	X	98974669	98974669	+	RNA	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:98974669C>T	uc011mrd.1	-	7		c.1674G>A								Homo sapiens X-ray repair complementing defective repair pseudogene (LOC442459), non-coding RNA.																		ACTGCTTGTTCCTCCATCAAA	0.453000														14			4		0	0	0.00024832	0	0
THPO	7066	broad.mit.edu	37	3	184090440	184090440	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:184090440G>A	uc003fol.1	-	5	1138	c.923C>T	c.(922-924)cCt>cTt	p.P308L	THPO_uc003fom.2_Missense_Mutation_p.P304L|THPO_uc021xii.1_Silent_p.P302P|THPO_uc003fon.3_Silent_p.P269P|THPO_uc011bro.2_Intron|THPO_uc003fop.3_Silent_p.P265P|THPO_uc011brp.2_Intron|THPO_uc011brq.2_Silent_p.P229P	NM_000460	NP_000451	P40225	TPO_HUMAN	Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.	308	Pro-rich.				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)			GGGTGGAAGAGGGAAGAGCGT	0.592000														49			13		0	0	0.00244969	0	0
TFAP4	7023	broad.mit.edu	37	16	4311888	4311888	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:4311888G>A	uc010uxg.2	-	3	671	c.417C>T	c.(415-417)tcC>tcT	p.S139S		NM_003223	NP_003214	Q01664	TFAP4_HUMAN	Homo sapiens transcription factor AP-4 (activating enhancer binding protein 4) (TFAP4), mRNA.	139					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						AGATGTCCGGGGAGCCTATGC	0.667000											OREG0023575	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		9			5		0	0	0.00116845	0	0
PTPRD	5789	broad.mit.edu	37	9	8471025	8471025	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:8471025C>T	uc003zkk.3	-	30	4217	c.3474G>A	c.(3472-3474)tgG>tgA	p.W1158*	PTPRD_uc003zkp.3_Nonsense_Mutation_p.W747*|PTPRD_uc003zkq.3_Nonsense_Mutation_p.W747*|PTPRD_uc003zkr.3_Nonsense_Mutation_p.W742*|PTPRD_uc003zks.3_Nonsense_Mutation_p.W737*|PTPRD_uc022bdj.1_Nonsense_Mutation_p.W744*	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1158					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CTGGACTCTCCCATGGCTTGA	0.388000										TSP Lung(15;0.13)				18			21		0	0	0.00047179	0	0
ARHGAP12	94134	broad.mit.edu	37	10	32197512	32197512	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:32197512G>A	uc001ivz.1	-	2	542	c.272C>T	c.(271-273)tCc>tTc	p.S91F	ARHGAP12_uc001ivy.1_Missense_Mutation_p.S89F|ARHGAP12_uc009xls.2_Missense_Mutation_p.S89F|ARHGAP12_uc001iwb.1_Missense_Mutation_p.S89F|ARHGAP12_uc001iwc.1_Missense_Mutation_p.S89F|ARHGAP12_uc009xlq.1_Missense_Mutation_p.S89F|ARHGAP12_uc009xlr.1_Missense_Mutation_p.S89F	NM_018287	NP_060757	Q8IWW6	RHG12_HUMAN	Homo sapiens Rho GTPase activating protein 12 (ARHGAP12), mRNA.	91					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				TATTTTCGTGGAGTTATTTGG	0.448000														47			8		0	0	0.000274275	0	0
LRP1B	53353	broad.mit.edu	37	2	141771293	141771293	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:141771293A>G	uc002tvj.1	-	13	3184	c.2212T>C	c.(2212-2214)Ttg>Ctg	p.L738L	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	738					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L738C(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGGTGGTTCAACTCTCTCCCA	0.338000										TSP Lung(27;0.18)				30			7		0	0	0.000274275	0	0
CUX2	23316	broad.mit.edu	37	12	111785719	111785719	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:111785719C>T	uc001tsa.2	+	21	4205	c.4051C>T	c.(4051-4053)Cca>Tca	p.P1351S		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1351	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCCCTCCTTCCAGGTGGATC	0.607000														45			6		0	0	0.000157383	0	0
RERG	85004	broad.mit.edu	37	12	15262186	15262186	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:15262186T>G	uc001rcs.3	-	3	598	c.458A>C	c.(457-459)gAa>gCa	p.E153A	RERG_uc001rct.3_Missense_Mutation_p.E153A|RERG_uc010shu.2_Missense_Mutation_p.E134A	NM_032918	NP_116307	Q96A58	RERG_HUMAN	Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.	153					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	GDP binding|GTP binding|GTPase activity|estrogen receptor binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						GATGTTCCCTTCTCCAGTGCA	0.552000														59			18		0	0	0.00074312	0	0
FLG2	388698	broad.mit.edu	37	1	152324098	152324098	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152324098C>T	uc001ezw.4	-	2	6237	c.6164G>A	c.(6163-6165)gGa>gAa	p.G2055E	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2055							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)			ATGTTGAGATCCGGCTTGGCC	0.522000														136			32		0	0	0.00058488	0	0
HDAC5	10014	broad.mit.edu	37	17	42156005	42156005	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:42156005G>A	uc002iff.1	-	25	3527	c.3195C>T	c.(3193-3195)ttC>ttT	p.F1065F	HDAC5_uc002ifd.1_Silent_p.F1064F|HDAC5_uc002ife.1_Silent_p.F1064F|HDAC5_uc010czp.1_Silent_p.F979F	NM_001015053	NP_001015053	Q9UQL6	HDAC5_HUMAN	Homo sapiens histone deacetylase 5 (HDAC5), transcript variant 3, mRNA.	1064					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		GACCAGCGGCGAACTTCTGCA	0.657000														124			14		0	0	0.000308642	0	0
DDX43	55510	broad.mit.edu	37	6	74123753	74123754	+	Missense_Mutation	DNP	AG	CA	CA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:74123753_74123754AG>CA	uc003pgw.3	+	12	1901_1902	c.1557_1558AG>CA	c.(1555-1560)ggagat>ggCAat	p.D520N		NM_018665	NP_061135	Q9NXZ2	DDX43_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 43 (DDX43), mRNA.	520	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CTCTGCATGGAGATAGAGAACA	0.347000														18			13		0	0	6.4e-05	0	0
MYH15	22989	broad.mit.edu	37	3	108175660	108175660	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:108175660G>A	uc003dxa.1	-	19	2208	c.2151C>T	c.(2149-2151)tgC>tgT	p.C717C		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	717	Myosin head-like.					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						AACCTTCACGGCATATCCTAG	0.433000														41			7		0	0	0.000274275	0	0
ACTL8	81569	broad.mit.edu	37	1	18149712	18149712	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:18149712G>A	uc001bat.3	+	1	425	c.209G>A	c.(208-210)gGc>gAc	p.G70D		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	70						cytoplasm|cytoskeleton		p.R69Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		ATCGAGCGGGGCCGCATCCTC	0.597000														42			11		0	0	0.00136819	0	0
ZNF821	55565	broad.mit.edu	37	16	71898043	71898043	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:71898043G>T	uc010vmj.2	-	4	823	c.415C>A	c.(415-417)Cag>Aag	p.Q139K	ATXN1L_uc010vmi.1_Intron|ZNF821_uc002fbe.3_5'UTR|ZNF821_uc002fbf.3_Missense_Mutation_p.Q97K|ZNF821_uc021tlb.1_Missense_Mutation_p.Q139K|ZNF821_uc021tlc.1_Missense_Mutation_p.Q139K|ZNF821_uc002fbh.4_Missense_Mutation_p.Q97K|ZNF821_uc002fbg.4_5'UTR	NM_001201553	NP_001188482	O75541	ZN821_HUMAN	Homo sapiens zinc finger protein 821 (ZNF821), transcript variant 2, mRNA.	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						ATCCATACCTGGTACACGTGA	0.557000														49			5		0.000602214	0.00201677	0.000602214	1	0
ZBED4	9889	broad.mit.edu	37	22	50280444	50280444	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:50280444C>T	uc003bix.2	+	1	3604	c.3134C>T	c.(3133-3135)gCc>gTc	p.A1045V	ZBED4_uc021wrx.1_Missense_Mutation_p.A1045V	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	1045						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GACGTGGCTGCCTCCCACAGG	0.537000														46			9		0	0	0.000673444	0	0
SLC14A2	8170	broad.mit.edu	37	18	43204771	43204771	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:43204771G>A	uc002lbe.3	+	1	958	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	SLC14A2_uc002lbb.3_Missense_Mutation_p.E48K|SLC14A2_uc010dnj.3_Missense_Mutation_p.E48K	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	48						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						GGAAATGCCTGAAGAAAAGGT	0.562000														39			8		0	0	0.000274275	0	0
PCYT1A	5130	broad.mit.edu	37	3	195975147	195975147	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:195975147G>A	uc003fwg.3	-	4	438	c.265C>T	c.(265-267)Cac>Tac	p.H89Y	PCYT1A_uc003fwh.3_Missense_Mutation_p.H89Y	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA.	89	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	TGACCAGAGTGAAATAAGTCA	0.403000														74			26		0	0	0.00127121	0	0
PTPRT	11122	broad.mit.edu	37	20	40790065	40790065	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:40790065C>A	uc002xkg.3	-	16	2793	c.2609G>T	c.(2608-2610)cGg>cTg	p.R870L	PTPRT_uc010ggj.3_Missense_Mutation_p.R889L|PTPRT_uc010ggi.3_Missense_Mutation_p.R73L	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	870					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)				GTCAGCCACCCGGATGGCGGG	0.597000														35			5		0.00116845	0.00390822	0.00116845	1	0
CHD1	1105	broad.mit.edu	37	5	98212152	98212152	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:98212152C>T	uc003knf.3	-	22	3496	c.3348G>A	c.(3346-3348)cgG>cgA	p.R1116R	CHD1_uc010jbn.3_5'Flank	NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	1116					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding	p.R1116W(1)		NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GAGGAATAGTCCGTGGTCTTC	0.428000														129			37		0	0	0.0025221	0	0
SVEP1	79987	broad.mit.edu	37	9	113194887	113194887	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:113194887C>T	uc010mtz.3	-	30	5425	c.5088G>A	c.(5086-5088)ttG>ttA	p.L1696L		NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1696	Sushi 6.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AGCCATTCTCCAAAGGAGGTG	0.443000														29			8		0	0	0.000442599	0	0
RERGL	79785	broad.mit.edu	37	12	18234401	18234401	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:18234401C>T	uc001rdq.3	-	5	536	c.342G>A	c.(340-342)gtG>gtA	p.V114V		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	114	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						CTGCTGATTCCACAGCTCTGA	0.363000														31			6		0	0	0.00198382	0	0
OR5A1	219982	broad.mit.edu	37	11	59210928	59210928	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:59210928C>T	uc001nnx.1	+	0	287	c.287C>T	c.(286-288)tCa>tTa	p.S96L		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						AAGACCATATCATTTGTGGGC	0.473000														43			9		0	0	0.000442599	0	0
ADORA3	140	broad.mit.edu	37	1	112106515	112106516	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:112106515_112106516CC>TT	uc001ebg.4	-	0	82_83	c.59_60GG>AA	c.(58-60)tgg>tAA	p.W20*	RAP1A_uc001ebi.3_Intron	NM_001081976	NP_001075445	P33765	AA3R_HUMAN	Homo sapiens adenosine A3 receptor (ADORA3), transcript variant 3, mRNA.	0					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)	GCTGCTCTTCCCAGGAGCTTTC	0.559000														71			20		0	0	6.4e-05	0	0
CAGE1	285782	broad.mit.edu	37	6	7373626	7373627	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:7373626_7373627CC>TT	uc003mxl.2	-	4	1956_1957	c.1425_1426GG>AA	c.(1423-1428)cgggaa>cgAAaa	p.E476K	CAGE1_uc003mxh.3_Non-coding_Transcript|CAGE1_uc021ylc.1_Missense_Mutation_p.E340K|CAGE1_uc003mxj.3_Missense_Mutation_p.E231K|CAGE1_uc003mxk.2_Missense_Mutation_p.E476K	NM_001170692	NP_001164163	Q8TC20	CAGE1_HUMAN	Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA.	476										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					GCCTCTTTTTCCCGTTTCAACA	0.396000														94			12		0	0	6.4e-05	0	0
FBXO18	84893	broad.mit.edu	37	10	5963508	5963508	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:5963508C>T	uc001iit.3	+	15	2555	c.2451C>T	c.(2449-2451)ttC>ttT	p.F817F	FBXO18_uc001iir.3_Silent_p.F692F|FBXO18_uc001iis.3_Silent_p.F766F|FBXO18_uc009xig.3_Silent_p.F692F	NM_032807	NP_835363	Q8NFZ0	FBX18_HUMAN	Homo sapiens F-box protein, helicase, 18 (FBXO18), transcript variant 1, mRNA.	766					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						AAGGGGAATTCCCTTCAAGGA	0.493000														49			12		0	0	0.00244969	0	0
ATRNL1	26033	broad.mit.edu	37	10	116919912	116919912	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:116919912G>A	uc001lcg.3	+	5	1327	c.941G>A	c.(940-942)gGg>gAg	p.G314E	ATRNL1_uc001lce.3_Non-coding_Transcript|ATRNL1_uc001lcf.3_Missense_Mutation_p.G314E	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	314						integral to membrane	sugar binding	p.G314W(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GTTTTACACGGGAAATTTATG	0.368000														32			10		0	0	0.000978159	0	0
ARMC4	55130	broad.mit.edu	37	10	28273185	28273185	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:28273185C>T	uc009xky.3	-	4	708	c.610G>A	c.(610-612)Gat>Aat	p.D204N	ARMC4_uc010qds.2_5'Flank|ARMC4_uc010qdt.2_5'Flank|ARMC4_uc001itz.3_Missense_Mutation_p.D204N|ARMC4_uc010qdu.1_5'Flank	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	204							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AGTTCTATATCCTTCTTCACC	0.333000														107			41		0	0	0.000781405	0	0
BRDT	676	broad.mit.edu	37	1	92446284	92446284	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:92446284G>A	uc001dol.4	+	9	1790	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	BRDT_uc010osz.2_Missense_Mutation_p.E462K|BRDT_uc001dok.4_Missense_Mutation_p.E458K|BRDT_uc009wdf.3_Missense_Mutation_p.E385K|BRDT_uc010otb.2_Missense_Mutation_p.E412K|BRDT_uc010ota.2_Missense_Mutation_p.E412K|BRDT_uc001dom.4_Missense_Mutation_p.E458K	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GTCTAAAAAGGAAAAGAAAAA	0.323000														123			45		0	0	0.00285205	0	0
DNAH2	146754	broad.mit.edu	37	17	7680802	7680802	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7680802G>A	uc002giu.1	+	31	5111	c.5097G>A	c.(5095-5097)ggG>ggA	p.G1699G		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1699	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCATCAGGGGGAACTTGACCA	0.498000														78			168		0	0	0.000781405	0	0
DEPDC7	91614	broad.mit.edu	37	11	33047353	33047353	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:33047353C>T	uc001mub.3	+	1	314	c.222C>T	c.(220-222)gtC>gtT	p.V74V	DEPDC7_uc010reg.1_Silent_p.V74V|DEPDC7_uc010reh.1_Silent_p.V74V|DEPDC7_uc001muc.3_Silent_p.V65V	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN	Homo sapiens DEP domain containing 7 (DEPDC7), transcript variant 1, mRNA.	74	DEP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						CTGTGGATGTCATTTTTTCTC	0.388000														109			23		0	0	0.000720815	0	0
ZNF354C	30832	broad.mit.edu	37	5	178504150	178504150	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:178504150C>T	uc003mju.3	+	3	348	c.233C>T	c.(232-234)cCt>cTt	p.P78L		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.	78	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|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;0.247)		AGAGAAGTCCCTTCAGATACC	0.463000														34			13		0	0	0.00244969	0	0
OR6C2	341416	broad.mit.edu	37	12	55846762	55846762	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:55846762C>T	uc001sgz.1	+	0	765	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GCTGCATCTTCATCTATATCA	0.423000														27			7		0	0	0.000442599	0	0
ISLR	3671	broad.mit.edu	37	15	74467801	74467801	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:74467801C>T	uc002axg.1	+	1	884	c.602C>T	c.(601-603)tCc>tTc	p.S201F	ISLR_uc002axh.1_Missense_Mutation_p.S201F|ISLR_uc021sqf.1_Missense_Mutation_p.S201F	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	201	LRRCT.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						ACGGCCGTGTCCATCCCGGAG	0.667000														16			10		0	0	0.00136819	0	0
FABP4	2167	broad.mit.edu	37	8	82392784	82392784	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:82392784C>T	uc003ycd.2	-	1	194	c.123G>A	c.(121-123)atG>atA	p.M41I		NM_001442	NP_001433	P15090	FABP4_HUMAN	Homo sapiens fatty acid binding protein 4, adipocyte (FABP4), mRNA.	41					triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			CACTGATGATCATGTTAGGTT	0.413000														39			9		0	0	0.000978159	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324317	79324317	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:79324317G>A	uc010mpk.3	-	7	2997	c.2873C>T	c.(2872-2874)tCg>tTg	p.S958L	PRUNE2_uc022bih.1_Missense_Mutation_p.S780L	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	958					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGAAGGCACCGAATCTTCTCC	0.423000														58			9		0	0	0.000442599	0	0
STYK1	55359	broad.mit.edu	37	12	10786678	10786678	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:10786678A>C	uc001qys.2	-	3	619	c.98T>G	c.(97-99)tTg>tGg	p.L33W		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	33						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.L32F(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GATAGTAACCAACAAAGTTGG	0.453000										HNSCC(73;0.22)				101			26		0	0	0.00106085	0	0
EIF3G	8666	broad.mit.edu	37	19	10229351	10229351	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:10229351C>T	uc002mnd.3	-	4	357	c.293G>A	c.(292-294)aGg>aAg	p.R98K	EIF3G_uc010dxa.3_Missense_Mutation_p.R98K	NM_003755	NP_003746	O75821	EIF3G_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit G (EIF3G), mRNA.	98						cytosol|eukaryotic translation initiation factor 3 complex|nucleus|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			central_nervous_system(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(20;3.53e-09)|Epithelial(33;4.91e-06)|all cancers(31;1.1e-05)			CACCTTCCTCCTTGCGACAGC	0.532000														52			15		0	0	0.000566183	0	0
ZNF611	81856	broad.mit.edu	37	19	53217299	53217299	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:53217299C>A	uc002pzz.3	-	5	476	c.159G>T	c.(157-159)atG>atT	p.M53I	ZNF611_uc010eqc.3_5'UTR|ZNF611_uc010ydo.2_Intron|ZNF611_uc010ydp.2_Missense_Mutation_p.M53I|ZNF611_uc010ydq.2_Missense_Mutation_p.M53I|ZNF611_uc010ydr.2_Intron|ZNF611_uc002qaa.4_5'UTR	NM_030972	NP_001154973	Q8N823	ZN611_HUMAN	Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA.	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AGTTCTCCAACATCACTTCCC	0.493000														87			13		1.5842e-08	5.33819e-08	0.00185496	1	0
SENP2	59343	broad.mit.edu	37	3	185341841	185341841	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:185341841G>A	uc003fpn.3	+	14	1753	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K	SENP2_uc011brv.2_Missense_Mutation_p.E518K|SENP2_uc011brw.2_Missense_Mutation_p.E341K	NM_021627	NP_067640	Q9HC62	SENP2_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 2 (SENP2), mRNA.	528	Protease.				Wnt receptor signaling pathway|mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	SUMO-specific protease activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GAATCTTTTAGAGTGGACCCA	0.348000														353			89		0	0	0.000781405	0	0
PTPRB	5787	broad.mit.edu	37	12	70954554	70954554	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:70954554C>T	uc001swb.4	-	14	3705	c.3675G>A	c.(3673-3675)acG>acA	p.T1225T	PTPRB_uc010sto.2_Silent_p.T1135T|PTPRB_uc010stp.2_Silent_p.T1135T|PTPRB_uc001swc.4_Silent_p.T1443T|PTPRB_uc001swa.4_Silent_p.T1355T|PTPRB_uc001swd.4_Silent_p.T1442T|PTPRB_uc009zrr.2_Silent_p.T1322T	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1225	Fibronectin type-III 14.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.T1225K(1)|p.L1224P(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACCGCCACTCCGTCAGGTCCT	0.488000														14			5		0	0	0.00116845	0	0
RWDD3	25950	broad.mit.edu	37	1	95709865	95709865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:95709865C>T	uc009wdu.3	+	1	260	c.184C>T	c.(184-186)Cct>Tct	p.P62S	TMEM56_uc001drd.4_3'UTR|RWDD3_uc010oty.2_Missense_Mutation_p.P47S|RWDD3_uc009wdt.3_Missense_Mutation_p.P62S|RWDD3_uc001drh.4_Missense_Mutation_p.P47S|RWDD3_uc001dri.4_Missense_Mutation_p.P62S|RWDD3_uc001drf.4_Missense_Mutation_p.P62S|RWDD3_uc009wdv.3_Intron|RWDD3_uc001drg.4_Non-coding_Transcript	NM_015485	NP_056300	Q9Y3V2	RWDD3_HUMAN	Homo sapiens RWD domain containing 3 (RWDD3), transcript variant 1, mRNA.	62	RWD.					cytoplasm|nucleus	protein binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)	10		all_epithelial(167;5.99e-05)|all_lung(203;0.00168)|Lung NSC(277;0.00769)		all cancers(265;0.112)|Epithelial(280;0.229)		AGTCAATTATCCTTCATGTCT	0.433000														49			14		0	0	0.00244969	0	0
LSM14A	26065	broad.mit.edu	37	19	34712526	34712526	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:34712526C>T	uc002nvb.4	+	8	1447	c.1251C>T	c.(1249-1251)ttC>ttT	p.F417F	LSM14A_uc002nva.4_Silent_p.F417F|LSM14A_uc010xru.2_Silent_p.F376F|LSM14A_uc002nvc.4_Silent_p.F223F	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), transcript variant 1, mRNA.	417					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					GTCTTGGTTTCCGTGGTGGCA	0.577000														26			7		0	0	0.00198382	0	0
KCNQ5	56479	broad.mit.edu	37	6	73879529	73879529	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:73879529C>T	uc011dyh.2	+	11	1933	c.1586C>T	c.(1585-1587)tCa>tTa	p.S529L	KCNQ5_uc011dyi.2_Missense_Mutation_p.S520L|KCNQ5_uc010kat.3_Missense_Mutation_p.S501L|KCNQ5_uc003pgk.3_Missense_Mutation_p.S510L|KCNQ5_uc011dyj.2_Intron|KCNQ5_uc011dyk.2_Missense_Mutation_p.S260L	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	510					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)		TGTGATGTATCAGTGGAAGAC	0.418000														35			6		0	0	0.00116845	0	0
TTN	7273	broad.mit.edu	37	2	179597628	179597628	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179597628C>T	uc021vsy.1	-	51	12768	c.12543G>A	c.(12541-12543)ggG>ggA	p.G4181G	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.G842G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5108							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)			AAGTGAAATTCCCTGCATCAT	0.453000														6			4		0	0	0.000602214	0	0
VIM	7431	broad.mit.edu	37	10	17278314	17278314	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:17278314C>T	uc001iou.2	+	8	1708	c.1295C>T	c.(1294-1296)cCt>cTt	p.P432L		NM_003380	NP_003371	P08670	VIME_HUMAN	Homo sapiens vimentin (VIM), mRNA.	432	Tail.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATTCACTCCCTCTGGTTGAT	0.348000														134			39		0	0	0.000781405	0	0
ODZ1	10178	broad.mit.edu	37	X	123779112	123779113	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:123779112_123779113CC>TT	uc010nqy.3	-	9	1820_1821	c.1756_1757GG>AA	c.(1756-1758)ggg>AAg	p.G586K	ODZ1_uc011muj.2_Missense_Mutation_p.G585K|ODZ1_uc004euj.3_Missense_Mutation_p.G586K	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	586	EGF-like 2.				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						ACACTCTGGCCCCTTCCAGCCA	0.520000														84			19		0	0	6.4e-05	0	0
MYO9A	4649	broad.mit.edu	37	15	72338974	72338974	+	Splice_Site	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:72338974A>T	uc002atl.4	-	2	403	c.-70_splice	c.e2-1		MYO9A_uc010biq.3_Intron|MYO9A_uc002ato.3_Splice_Site|MYO9A_uc002atn.1_Splice_Site	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTGGTAAAATAACTGTAACAT	0.333000														74			42		0	0	0.00170553	0	0
KCTD8	386617	broad.mit.edu	37	4	44177162	44177162	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:44177162G>A	uc003gwu.3	-	1	1351	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	356						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						ACTGGAAGTGGAGAGCTCATT	0.458000										HNSCC(17;0.042)				36			14		0	0	0.00185496	0	0
GRB7	2886	broad.mit.edu	37	17	37903012	37903012	+	Silent	SNP	G	A	A	rs145504893		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:37903012G>A	uc002hsr.3	+	14	1736	c.1461G>A	c.(1459-1461)gaG>gaA	p.E487E	GRB7_uc002hss.3_Silent_p.E487E|GRB7_uc021twu.1_Silent_p.E510E|GRB7_uc010cwc.3_Silent_p.E487E|GRB7_uc002hst.3_3'UTR	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	487	SH2.				blood coagulation|epidermal growth factor receptor signaling pathway|leukocyte migration|negative regulation of translation|positive regulation of cell migration|stress granule assembly	cytosol|focal adhesion|stress granule	SH3/SH2 adaptor activity|phosphatidylinositol binding|protein kinase binding	p.E487E(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;6.86e-60)|all cancers(3;1.65e-53)|BRCA - Breast invasive adenocarcinoma(8;2.03e-43)|STAD - Stomach adenocarcinoma(3;1.43e-12)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGAGCGAGGAGGAGGGCCGCC	0.622000														52			11		0	0	0.000673444	0	0
BRAF	673	broad.mit.edu	37	7	140481408	140481408	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:140481408G>A	uc003vwc.4	-	10	1461	c.1400C>T	c.(1399-1401)tCa>tTa	p.S467L		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	467	Protein kinase.		S -> A (in CFC syndrome).		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.G466V(20)|p.G466E(7)|p.G466A(4)|p.G466R(3)|p.S467L(2)	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)	TGTTCCAAATGATCCAGATCC	0.383000		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					132			17		0	0	0.000566183	0	0
ACOXL	55289	broad.mit.edu	37	2	111551231	111551231	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:111551231G>A	uc010yxk.1	+	3	388	c.164G>A	c.(163-165)gGa>gAa	p.G55E		NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	55					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						TTCCAGTGCGGAATAATTTAT	0.423000														82			16		0	0	0.00121646	0	0
FAM75C1	441452	broad.mit.edu	37	9	90535945	90535945	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:90535945C>T	uc010mqi.3	+	3	1152	c.1123C>T	c.(1123-1125)Cta>Tta	p.L375L	FAM75C1_uc004apq.4_Silent_p.L358L	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		TCCTGCTTTTCTATCCCCGAT	0.517000														95			27		0	0	0.000680045	0	0
LAMA5	3911	broad.mit.edu	37	20	60904097	60904097	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:60904097G>A	uc002ycq.3	-	33	4317	c.4250C>T	c.(4249-4251)tCc>tTc	p.S1417F	LAMA5_uc021wfw.1_Missense_Mutation_p.S1417F	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1417	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAGAACAGGGATGAGCTGCT	0.652000														20			4		0	0	0.00024832	0	0
MAP6	4135	broad.mit.edu	37	11	75298370	75298370	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:75298370C>T	uc001owu.3	-	3	2241	c.2176G>A	c.(2176-2178)Gat>Aat	p.D726N		NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	Homo sapiens microtubule-associated protein 6 (MAP6), transcript variant 1, mRNA.	726	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GGGCCTTGATCCTTAACTAGT	0.498000														94			21		0	0	0.00188189	0	0
XIRP2	129446	broad.mit.edu	37	2	168105475	168105475	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:168105475C>T	uc002udx.3	+	8	7662	c.7573C>T	c.(7573-7575)Cca>Tca	p.P2525S	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.P2350S|XIRP2_uc010fpq.3_Missense_Mutation_p.P2303S|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2350					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						TCATTCATTTCCAGAGAGTTC	0.343000														74			13		0	0	0.00185496	0	0
ZSCAN5B	342933	broad.mit.edu	37	19	56701677	56701677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:56701677C>T	uc010ygh.2	-	3	1007	c.1007G>A	c.(1006-1008)gGc>gAc	p.G336D		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	336					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GCCCGCAGGGCCTGGGGAATG	0.547000														60			16		0	0	0.00074312	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18636786	18636786	+	Silent	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:18636786C>A	uc001moy.3	-	2	1251	c.1035G>T	c.(1033-1035)ctG>ctT	p.L345L	SPTY2D1_uc010rdi.1_Silent_p.L345L	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA.	345	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TAGGATGGGACAGAGATTTTT	0.542000														111			31		3.90053e-15	1.31989e-14	0.0024448	1	0
ADRB2	154	broad.mit.edu	37	5	148207009	148207009	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:148207009C>T	uc003lpr.2	+	0	854	c.615C>T	c.(613-615)atC>atT	p.I205I	SH3TC2_uc003lpp.1_Intron	NM_000024	NP_000015	P07550	ADRB2_HUMAN	Homo sapiens adrenergic, beta-2-, receptor, surface (ADRB2), mRNA.	205	Agonist and antagonist binding.				activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	CCTCTTCCATCGTGTCCTTCT	0.537000														120			32		0	0	0.00170553	0	0
C12orf51	283450	broad.mit.edu	37	12	112600322	112600322	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:112600322G>A	uc021reb.1	-	75	13120	c.12724C>T	c.(12724-12726)Cca>Tca	p.P4242S		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CGAGAGTCTGGGGAACCTACA	0.557000														21			7		0	0	0.00198382	0	0
ADAM28	10863	broad.mit.edu	37	8	24199149	24199149	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:24199149C>T	uc003xdy.3	+	15	1792	c.1709C>T	c.(1708-1710)tCg>tTg	p.S570L	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Missense_Mutation_p.S257L	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	570	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.S570S(1)|p.G569W(1)		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)		CAAGGTGGGTCGGATAATTTG	0.418000														98			21		0	0	0.00278032	0	0
CKMT2	1160	broad.mit.edu	37	5	80553664	80553664	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:80553664G>A	uc003khc.4	+	7	1110	c.868G>A	c.(868-870)Gga>Aga	p.G290R	RNU5E-1_uc011cto.1_Intron|CKMT2_uc010jaq.3_Missense_Mutation_p.G290R|CKMT2_uc003khd.4_Missense_Mutation_p.G290R|LOC100131067_uc003khe.2_Intron|LOC100131067_uc003khf.2_Intron|LOC100131067_uc003khg.2_Intron	NM_001825	NP_001816	P17540	KCRS_HUMAN	Homo sapiens creatine kinase, mitochondrial 2 (sarcomeric) (CKMT2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	290	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	ATTCTGTCGTGGACTAAAAGA	0.343000														28			4		0	0	0.000602214	0	0
ZNF408	79797	broad.mit.edu	37	11	46726799	46726799	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:46726799C>T	uc001nde.2	+	4	1830	c.1549C>T	c.(1549-1551)Ctc>Ttc	p.L517F	ZNF408_uc010rgw.2_Missense_Mutation_p.L509F	NM_024741	NP_079017	Q9H9D4	ZN408_HUMAN	Homo sapiens zinc finger protein 408 (ZNF408), transcript variant 1, mRNA.	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCATTTGCGGCTCCACACCGG	0.647000														33			10		0	0	0.000978159	0	0
VCL	7414	broad.mit.edu	37	10	75865061	75865061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:75865061C>T	uc001jwd.3	+	15	2478	c.2384C>T	c.(2383-2385)tCc>tTc	p.S795F	VCL_uc009xrr.3_Missense_Mutation_p.S544F|VCL_uc010qky.1_Missense_Mutation_p.S702F|VCL_uc001jwe.3_Missense_Mutation_p.S795F|VCL_uc010qkz.2_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	Homo sapiens vinculin (VCL), transcript variant 1, mRNA.	795	N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					AAAACCATCTCCCCGATGGTG	0.522000														27			16		0	0	0.00074312	0	0
KCNA10	3744	broad.mit.edu	37	1	111060332	111060333	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:111060332_111060333CC>TT	uc001dzt.1	-	0	1465_1466	c.1077_1078GG>AA	c.(1075-1080)aagggg>aaAAgg	p.G360R		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)		ATCTGCAGCCCCTTGGAGTGGC	0.569000														37			9		0	0	6.4e-05	0	0
NIN	51199	broad.mit.edu	37	14	51259445	51259445	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:51259445G>A	uc001wyi.3	-	4	611	c.420C>T	c.(418-420)gcC>gcT	p.A140A	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Silent_p.A140A|NIN_uc001wyk.3_Silent_p.A140A|NIN_uc001wyo.3_Silent_p.A140A|NIN_uc001wyp.1_Silent_p.A102A	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	140					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding	p.A139V(1)|p.A139A(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGCAGTCACCGGCTGGGATGT	0.582000			T	PDGFRB	MPD									28			12		0	0	0.00244969	0	0
SPAM1	6677	broad.mit.edu	37	7	123593922	123593922	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:123593922C>T	uc003vle.3	+	2	737	c.298C>T	c.(298-300)Cct>Tct	p.P100S	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.P100S|SPAM1_uc022aks.1_Missense_Mutation_p.P100S|SPAM1_uc003vlf.4_Missense_Mutation_p.P100S|SPAM1_uc010lku.3_Missense_Mutation_p.P100S	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	100					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	TGGCTACTATCCTTACATAGA	0.418000														15			6		0	0	0.00116845	0	0
ZNF606	80095	broad.mit.edu	37	19	58490297	58490297	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:58490297A>T	uc002qqw.3	-	6	2369	c.1751T>A	c.(1750-1752)aTt>aAt	p.I584N	ZNF606_uc010yhp.2_Missense_Mutation_p.I494N	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		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;0.0168)		CTGATGGGCAATAAGATGGGA	0.423000														43			10		0	0	0.000442599	0	0
NRCAM	4897	broad.mit.edu	37	7	107872892	107872892	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:107872892C>T	uc022aka.1	-	3	411	c.305G>A	c.(304-306)gGa>gAa	p.G102E	NRCAM_uc011kmk.2_Missense_Mutation_p.G102E|NRCAM_uc003vfd.3_Missense_Mutation_p.G102E|NRCAM_uc003vfe.3_Missense_Mutation_p.G102E|NRCAM_uc003vfc.3_Missense_Mutation_p.G96E	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	102	Ig-like 1.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TATGAGCGTTCCTGTGCCAGG	0.478000														62			12		0	0	0.00185496	0	0
SSBP1	6742	broad.mit.edu	37	7	141443419	141443419	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:141443419G>A	uc003vwo.1	+	3	222	c.144G>A	c.(142-144)gtG>gtA	p.V48V	SSBP1_uc011kri.1_Silent_p.V48V|SSBP1_uc010lnp.1_Silent_p.V48V	NM_003143	NP_003134	Q04837	SSBP_HUMAN	Homo sapiens single-stranded DNA binding protein 1 (SSBP1), nuclear gene encoding mitochondrial protein, mRNA.	48	SSB.				DNA replication|positive regulation of helicase activity	mitochondrial nucleoid	single-stranded DNA binding			large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|skin(1)	7	Melanoma(164;0.0171)					TGAGACAGGTGGAAGGAAAAA	0.458000														127			16		0	0	0.00074312	0	0
ZBTB16	7704	broad.mit.edu	37	11	113935071	113935071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:113935071C>T	uc001pop.3	+	1	1313	c.1049C>T	c.(1048-1050)tCt>tTt	p.S350F	ZBTB16_uc001poo.1_Missense_Mutation_p.S350F|ZBTB16_uc001poq.3_Missense_Mutation_p.S350F	NM_006006	NP_005997	Q05516	ZBT16_HUMAN	Homo sapiens zinc finger and BTB domain containing 16 (ZBTB16), transcript variant 1, mRNA.	350					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	PML body|nuclear speck|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		AGCATGCCGTCTTCCGTGACC	0.632000														24			14		0	0	0.00074312	0	0
DNAH17	8632	broad.mit.edu	37	17	76492064	76492064	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:76492064G>A	uc010dhp.2	-	37	5921	c.5796C>T	c.(5794-5796)ttC>ttT	p.F1932F	AK127460_uc002jvt.1_5'Flank	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCTCTCCCAGGAAATTGAATG	0.517000														50			13		0	0	0.00136819	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144879433	144879433	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:144879433C>T	uc021ouh.1	-	26	4319	c.4017G>A	c.(4015-4017)caG>caA	p.Q1339Q	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.Q1339Q|PDE4DIP_uc001elx.4_Silent_p.Q1295Q|PDE4DIP_uc001elv.4_Silent_p.Q346Q	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1339					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAACTCTTCCTGCTTCCCTA	0.537000			T	PDGFRB	MPD									201			15		0	0	0.000422831	0	0
KIF26B	55083	broad.mit.edu	37	1	245809553	245809553	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:245809553C>T	uc001ibf.1	+	9	2669	c.2229C>T	c.(2227-2229)ctC>ctT	p.L743L	KIF26B_uc010pyq.1_Silent_p.L743L|KIF26B_uc001ibg.1_Silent_p.L361L|KIF26B_uc001ibh.1_5'UTR	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	743					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCCTGGCTCTCGTCAATGGCA	0.498000														19			5		0	0	0.00116845	0	0
OR52J3	119679	broad.mit.edu	37	11	5068516	5068516	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5068516T>A	uc010qyv.2	+	0	761	c.761T>A	c.(760-762)aTc>aAc	p.I254N		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I254I(1)		NS(1)|endometrium(1)|kidney(6)|large_intestine(6)|lung(19)|ovary(1)|skin(2)	36		Medulloblastoma(188;0.00131)|all_neural(188;0.0189)|Breast(177;0.0204)		Epithelial(150;9.29e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTTTCTATATCCCTTCAGTC	0.448000														37			9		0	0	0.000978159	0	0
UGT2B15	7366	broad.mit.edu	37	4	69536328	69536328	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:69536328C>T	uc021xow.1	-	0	167	c.9G>A	c.(7-9)ctG>ctA	p.L3L		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	3					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										ACGTCCATTTCAGAGACATCC	0.398000														146			75		0	0	0.000781405	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256285	140256285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140256285G>A	uc003lic.2	+	0	1355	c.1228G>A	c.(1228-1230)Gac>Aac	p.D410N	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_uc011daf.2_Missense_Mutation_p.D410N	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	424	Cadherin 4.				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)			GTTGGTGCTGGACAGCGCCCT	0.602000														80			53		0	0	0.000781405	0	0
CXorf66	347487	broad.mit.edu	37	X	139038647	139038647	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:139038647G>A	uc004fbb.3	-	2	516	c.494C>T	c.(493-495)tCc>tTc	p.S165F		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	Homo sapiens chromosome X open reading frame 66 (CXorf66), mRNA.	165	Ser-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TGATGACTTGGATGACCTTTT	0.393000														178			60		0	0	0.000781405	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140736453	140736453	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140736453C>T	uc003ljq.2	+	0	1686	c.1686C>T	c.(1684-1686)atC>atT	p.I562I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Silent_p.I562I	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	564	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCTGAGATCCTGTACCCCA	0.582000														94			10		0	0	0.000978159	0	0
PDIA5	10954	broad.mit.edu	37	3	122849352	122849352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:122849352C>T	uc003egc.2	+	10	955	c.799C>T	c.(799-801)Cct>Tct	p.P267S	PDIA5_uc003egd.2_Intron	NM_006810	NP_006801	Q14554	PDIA5_HUMAN	Homo sapiens protein disulfide isomerase family A, member 5 (PDIA5), transcript variant 1, mRNA.	267					cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		GCCCCAGGTCCCTGAGACTCC	0.592000														23			6		0	0	0.00116845	0	0
STRA8	346673	broad.mit.edu	37	7	134925451	134925451	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:134925451G>A	uc011kpx.2	+	1	241	c.241G>A	c.(241-243)Gat>Aat	p.D81N		NM_182489	NP_872295	Q7Z7C7	STRA8_HUMAN	Homo sapiens stimulated by retinoic acid gene 8 homolog (mouse) (STRA8), mRNA.	81					DNA replication|regulation of transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(1)	16						CTCTCAGTCTGATCTCATAGC	0.602000														73			11		0	0	0.00136819	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48719028	48719028	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:48719028G>A	uc003cun.3	-	4	878	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	NCKIPSD_uc003cum.3_Missense_Mutation_p.P255S|NCKIPSD_uc010hkh.2_Missense_Mutation_p.P262S	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA.	262	Pro-rich.				NLS-bearing substrate import into nucleus|cytoskeleton organization|signal transduction	intermediate filament|nucleus	SH3 domain binding|cytoskeletal protein binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GCCTTGGAGGGAGGGGGCTGG	0.632000														17			6		0	0	0.00116845	0	0
KIF6	221458	broad.mit.edu	37	6	39682520	39682520	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:39682520C>T	uc003oot.2	-	2	294	c.199G>A	c.(199-201)Gat>Aat	p.D67N	KIF6_uc011dua.1_Missense_Mutation_p.D67N|KIF6_uc010jxb.1_Missense_Mutation_p.D67N|KIF6_uc003oou.3_Non-coding_Transcript	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	67	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TGGTTTGCATCCTGATCAAAA	0.353000														47			5		0	0	0.00116845	0	0
DNAH9	1770	broad.mit.edu	37	17	11583132	11583132	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:11583132G>A	uc002gne.3	+	17	3480	c.3412G>A	c.(3412-3414)Gaa>Aaa	p.E1138K	DNAH9_uc010coo.3_Missense_Mutation_p.E432K	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	1138	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAGAAAGTTGAAAAAGGAGA	0.428000														76			53		0	0	0.000781405	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122263349	122263349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:122263349C>T	uc001lev.1	+	1	428	c.76C>T	c.(76-78)Ccg>Tcg	p.P26S	PPAPDC1A_uc010qtd.2_Missense_Mutation_p.P26S|PPAPDC1A_uc009xzl.1_Missense_Mutation_p.P26S|PPAPDC1A_uc001lew.1_Missense_Mutation_p.P26S|PPAPDC1A_uc001lex.1_Missense_Mutation_p.P26S|PPAPDC1A_uc001ley.1_5'UTR	NM_001030059	NP_001025230	Q5VZY2	PPC1A_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2 domain containing 1A (PPAPDC1A), mRNA.	26					phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GTTTTTGGATCCGTTCCAGAG	0.438000														39			7		0	0	0.000157383	0	0
PRMT3	10196	broad.mit.edu	37	11	20529934	20529934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:20529934C>T	uc001mqb.3	+	15	1788	c.1571C>T	c.(1570-1572)tCa>tTa	p.S524L	PRMT3_uc001mqc.3_Missense_Mutation_p.S447L|PRMT3_uc010rdn.2_Missense_Mutation_p.S462L	NM_005788	NP_005779	O60678	ANM3_HUMAN	Homo sapiens protein arginine methyltransferase 3 (PRMT3), transcript variant 1, mRNA.	524							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						TTGAATAATTCAACTCAAACT	0.443000														44			9		0	0	0.00136819	0	0
PRUNE2	158471	broad.mit.edu	37	9	79323513	79323513	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:79323513T>C	uc010mpk.3	-	7	3801	c.3677A>G	c.(3676-3678)gAt>gGt	p.D1226G	PRUNE2_uc022bih.1_Missense_Mutation_p.D1048G	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1226					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CATGTCTTTATCTCTCATGAC	0.433000														23			14		0	0	0.000308642	0	0
GRIN2A	2903	broad.mit.edu	37	16	9858202	9858202	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:9858202G>A	uc010uym.2	-	13	3509	c.3199C>T	c.(3199-3201)Cgg>Tgg	p.R1067W	GRIN2A_uc002czo.4_Missense_Mutation_p.R1067W|GRIN2A_uc010uyn.2_Missense_Mutation_p.R910W|GRIN2A_uc002czr.4_Missense_Mutation_p.R1067W	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1067					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R1067W(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACGTGGCCCGATTTGACGTT	0.498000														43			21		0	0	0.000586117	0	0
IARS2	55699	broad.mit.edu	37	1	220315224	220315224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:220315224C>T	uc001hmc.3	+	19	2598	c.2494C>T	c.(2494-2496)Cgt>Tgt	p.R832C		NM_018060	NP_060530	Q9NSE4	SYIM_HUMAN	Homo sapiens isoleucyl-tRNA synthetase 2, mitochondrial (IARS2), nuclear gene encoding mitochondrial protein, mRNA.	832					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	TGTAATAGTTCGTTCTTTTGC	0.378000														111			32		0	0	0.00058488	0	0
TTC7A	57217	broad.mit.edu	37	2	47288062	47288062	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:47288062G>A	uc010fbb.3	+	19	2747	c.2379G>A	c.(2377-2379)aaG>aaA	p.K793K	TTC7A_uc002rvm.3_Silent_p.K735K|TTC7A_uc002rvo.3_Silent_p.K769K|TTC7A_uc010fbc.3_Silent_p.K415K|TTC7A_uc002rvp.3_Silent_p.K650K|TTC7A_uc002rvq.3_Silent_p.K509K|TTC7A_uc002rvr.3_Silent_p.K218K	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	769							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			AGCTGTACAAGGAGGCGCTCA	0.652000														11			7		0	0	0.000157383	0	0
IL2	3558	broad.mit.edu	37	4	123377467	123377467	+	Missense_Mutation	SNP	C	T	T	rs146566026	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:123377467C>T	uc003ier.3	-	0	184	c.129G>A	c.(127-129)atG>atA	p.M43I		NM_000586	NP_000577	P60568	IL2_HUMAN	Homo sapiens interleukin 2 (IL2), mRNA.	43					T cell differentiation|anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of B cell proliferation|positive regulation of activated T cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		CATTCAAAATCATCTGTAAAT	0.318000			T	TNFRSF17	intestinal T-cell lymphoma									18			6		0	0	0.00116845	0	0
SMURF2	64750	broad.mit.edu	37	17	62579637	62579637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:62579637C>T	uc002jep.1	-	6	899	c.511G>A	c.(511-513)Gga>Aga	p.G171R	SMURF2_uc002jeq.1_5'UTR|SMURF2_uc002jer.1_5'UTR	NM_022739	NP_073576	Q9HAU4	SMUF2_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 2 (SMURF2), mRNA.	171	WW 1.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	SMAD binding|identical protein binding|ubiquitin-protein ligase activity	p.S170P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TGGATTCTTCCAGAGGCGGTT	0.408000														52			5		0	0	0.000602214	0	0
OR51D1	390038	broad.mit.edu	37	11	4661402	4661402	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:4661402C>T	uc010qyk.2	+	0	458	c.382C>T	c.(382-384)Ctg>Ttg	p.L128L		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCAGCTGTCCTGCTGGCCAT	0.547000														29			5		0	0	0.000602214	0	0
PREX2	80243	broad.mit.edu	37	8	68939498	68939498	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:68939498C>T	uc003xxv.1	+	4	510	c.483C>T	c.(481-483)ccC>ccT	p.P161P	PREX2_uc003xxu.1_Silent_p.P161P|PREX2_uc011lez.1_Silent_p.P96P	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	161	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGATGTTCCCTTGGAAGGAT	0.353000														59			6		0	0	0.00116845	0	0
ZNF528	84436	broad.mit.edu	37	19	52918991	52918992	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:52918991_52918992CC>TT	uc002pzh.3	+	6	1312_1313	c.886_887CC>TT	c.(886-888)cct>TTt	p.P296F	ZNF528_uc002pzi.3_Missense_Mutation_p.P63F	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TGGAGAGAAGCCTTACAAATGT	0.371000														92			17		0	0	6.4e-05	0	0
IL20RA	53832	broad.mit.edu	37	6	137338238	137338238	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:137338238G>A	uc003qhj.3	-	1	524	c.91C>T	c.(91-93)Ccc>Tcc	p.P31S	IL20RA_uc011edl.2_5'UTR|IL20RA_uc003qhk.3_5'UTR|IL20RA_uc010kgy.1_Non-coding_Transcript	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	31						integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GAGACACAGGGAACTGAAAAA	0.468000														3			8		0	0	0.000274275	0	0
C2orf55	343990	broad.mit.edu	37	2	99412621	99412621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:99412621C>T	uc002szf.1	-	8	3005	c.2711G>A	c.(2710-2712)gGg>gAg	p.G904E		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	904										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						TCTTTGCAGCCCCTCCTTGAA	0.488000														68			54		0	0	0.000781405	0	0
TET3	200424	broad.mit.edu	37	2	74274685	74274685	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:74274685C>T	uc002skb.4	+	0	1236	c.1236C>T	c.(1234-1236)tcC>tcT	p.S412S	TET3_uc010fez.2_Silent_p.S412S	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	412							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACGACACCTCCTTCCCTGCTC	0.622000														12			6		0	0	0.000157383	0	0
COMMD1	150684	broad.mit.edu	37	2	62132934	62132934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:62132934C>T	uc002sbp.3	+	0	132	c.121C>T	c.(121-123)Cca>Tca	p.P41S		NM_152516	NP_689729	Q8N668	COMD1_HUMAN	Homo sapiens copper metabolism (Murr1) domain containing 1 (COMMD1), mRNA.	41					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)			CCAGCTATATCCAGAGGTGCC	0.597000														42			6		0	0	0.00198382	0	0
COL11A2	1302	broad.mit.edu	37	6	33148078	33148078	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:33148078G>A	uc003ocx.1	-	11	1544	c.1316C>T	c.(1315-1317)tCa>tTa	p.S439L	COL11A2_uc010jul.1_5'Flank|COL11A2_uc003ocy.1_Missense_Mutation_p.S353L|COL11A2_uc003ocz.1_Missense_Mutation_p.S332L	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	439	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AGCCCCATCTGATCCAGGGAG	0.527000														74			10		0	0	0.00185496	0	0
AMPH	273	broad.mit.edu	37	7	38574563	38574563	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:38574563C>T	uc003tgu.3	-	1	334	c.118G>A	c.(118-120)Gaa>Aaa	p.E40K	AMPH_uc003tgv.3_Missense_Mutation_p.E40K	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	40	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.F39I(1)|p.F39F(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ACATATTCTTCGAACTGTTCG	0.338000														66			12		0	0	0.00185496	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626991	140626991	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140626991C>T	uc003lje.3	+	0	1845	c.1845C>T	c.(1843-1845)ttC>ttT	p.F615F		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	615	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGGGCTGTTCGGCGTGTGGG	0.687000														31			6		0	0	0.000157383	0	0
TMEM63A	9725	broad.mit.edu	37	1	226058783	226058783	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:226058783G>A	uc001hpm.2	-	5	986	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	TMEM63A_uc010pvi.1_Missense_Mutation_p.R122C	NM_014698	NP_055513	O94886	TM63A_HUMAN	Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.	122						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					CACTGCAGACGGAAGATGGCA	0.537000														14			6		0	0	0.00198382	0	0
PROX1	5629	broad.mit.edu	37	1	214170305	214170305	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:214170305C>T	uc001hkh.3	+	1	699	c.427C>T	c.(427-429)Cct>Tct	p.P143S	PROX1_uc001hkg.1_Missense_Mutation_p.P143S	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	143					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of S phase of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	p.P143S(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GTGTCTTTCCCCTTTTGGCAG	0.507000														86			18		0	0	0.00188189	0	0
CCDC141	285025	broad.mit.edu	37	2	179702159	179702159	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179702159C>T	uc002une.2	-	22	3905	c.3787G>A	c.(3787-3789)Gaa>Aaa	p.E1263K	CCDC141_uc002unf.1_Missense_Mutation_p.E742K	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	688							protein binding	p.E688K(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			AGAACAGATTCCTGGGCATCC	0.522000														22			10		0	0	0.000673444	0	0
OR51S1	119692	broad.mit.edu	37	11	4869932	4869932	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:4869932G>A	uc010qyo.2	-	0	507	c.507C>T	c.(505-507)ttC>ttT	p.F169F		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F169L(2)|p.P168S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCCAGCAGGAATGGCAGGG	0.552000														32			27		0	0	0.0024448	0	0
PTTG2	10744	broad.mit.edu	37	4	37962342	37962342	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:37962342A>C	uc011bye.2	+	0	287	c.287A>C	c.(286-288)aAg>aCg	p.K96T	TBC1D1_uc003gtb.3_Intron|TBC1D1_uc011byd.2_Intron|TBC1D1_uc010ifd.3_Intron	NM_006607	NP_006598	Q9NZH5	PTTG2_HUMAN	Homo sapiens pituitary tumor-transforming 2 (PTTG2), mRNA.	96					DNA metabolic process|chromosome organization	cytoplasm|nucleus	SH3 domain binding			breast(1)|endometrium(1)|lung(4)|skin(1)	7						ATGACCGAGAAGACTGTTAAA	0.403000														64			14		0	0	0.000422831	0	0
ZNF808	388558	broad.mit.edu	37	19	53057737	53057737	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:53057737G>T	uc010epq.1	+	4	1745	c.1568G>T	c.(1567-1569)cGg>cTg	p.R523L	ZNF808_uc002pzq.2_Non-coding_Transcript|ZNF808_uc010epr.2_5'Flank	NM_001039886	NP_001034975	Q8N4W9	ZN808_HUMAN	Homo sapiens zinc finger protein 808 (ZNF808), mRNA.	523					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TTCCGTCACCGGGCATCCCTT	0.443000														119			6		0.00198382	0.00662734	0.00198382	1	0
MUC7	4589	broad.mit.edu	37	4	71347045	71347045	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:71347045C>T	uc011cat.2	+	3	872	c.584C>T	c.(583-585)cCt>cTt	p.P195L	MUC7_uc011cau.2_Missense_Mutation_p.P195L|MUC7_uc003hfj.3_Missense_Mutation_p.P195L	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	195	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CCACCCACACCTTCTGCAACT	0.592000														51			12		0	0	0.00244969	0	0
ZNF655	79027	broad.mit.edu	37	7	99169928	99169928	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:99169928T>G	uc010lga.3	+	3	695	c.302T>G	c.(301-303)gTg>gGg	p.V101G	ZNF655_uc003urh.3_Missense_Mutation_p.V66G|ZNF655_uc010lgc.3_Missense_Mutation_p.V101G|ZNF655_uc003urj.3_Missense_Mutation_p.V66G|ZNF655_uc003urk.3_5'UTR|ZNF655_uc010lgd.3_5'UTR	NM_001083956	NP_001078837	Q8N720	ZN655_HUMAN	Homo sapiens zinc finger protein 655 (ZNF655), transcript variant 7, mRNA.	66					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					TCGGAAGAAGTGCATTCATAC	0.363000														65			12		0	0	0.00244969	0	0
PARD3	56288	broad.mit.edu	37	10	34648195	34648195	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:34648195G>A	uc010qej.2	-	13	2277	c.1947C>T	c.(1945-1947)tcC>tcT	p.S649S	PARD3_uc010qep.2_Silent_p.S592S|PARD3_uc010qeq.2_Silent_p.S592S|PARD3_uc010qek.2_Silent_p.S649S|PARD3_uc010qel.2_Silent_p.S649S|PARD3_uc010qem.2_Silent_p.S636S|PARD3_uc010qen.2_Silent_p.S636S|PARD3_uc010qeo.2_Silent_p.S636S|PARD3_uc001ixo.2_Silent_p.S366S|PARD3_uc001ixr.2_Silent_p.S649S|PARD3_uc001ixq.2_Silent_p.S636S|PARD3_uc001ixp.2_Silent_p.S649S|PARD3_uc001ixt.1_Silent_p.S470S|PARD3_uc001ixu.2_Silent_p.S592S|PARD3_uc001ixs.1_Silent_p.S302S	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	649	PDZ 3.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding	p.E648D(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGCCCAACAGGGATTCTCCAT	0.413000														66			26		0	0	0.000720815	0	0
SYCP1	6847	broad.mit.edu	37	1	115399263	115399263	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:115399263G>A	uc001efr.3	+	2	387	c.178G>A	c.(178-180)Gaa>Aaa	p.E60K	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.E60K|SYCP1_uc009wgw.3_Missense_Mutation_p.E60K	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	60	Asp/Glu-rich (acidic).				cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAAATGGGGAAAACATTGA	0.318000														57			40		0	0	0.00148497	0	0
RUNDC1	146923	broad.mit.edu	37	17	41143109	41143109	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:41143109C>T	uc002ici.1	+	4	1230	c.1218C>T	c.(1216-1218)atC>atT	p.I406I		NM_173079	NP_775102	Q96C34	RUND1_HUMAN	Homo sapiens RUN domain containing 1 (RUNDC1), mRNA.	406										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		ACCATGTCATCACCTCTGCCA	0.587000														21			12		0	0	0.00244969	0	0
OR51Q1	390061	broad.mit.edu	37	11	5443436	5443436	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5443436C>T	uc010qzd.2	+	0	96	c.6C>T	c.(4-6)tcC>tcT	p.S2S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTCATGTCCCAGGTGACTA	0.448000														46			9		0	0	0.000442599	0	0
TMC2	117532	broad.mit.edu	37	20	2572993	2572993	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:2572993A>G	uc002wgf.1	+	7	887	c.872A>G	c.(871-873)aAg>aGg	p.K291R	TMC2_uc002wgg.1_Missense_Mutation_p.K275R|TMC2_uc010zpw.1_Missense_Mutation_p.K123R|TMC2_uc010zpx.1_Missense_Mutation_p.K122R	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	291						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTCCCAGAAAGACAGTGCCT	0.438000														94			20		0	0	0.00278032	0	0
OR51B2	79345	broad.mit.edu	37	11	5345387	5345387	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5345387G>A	uc001mao.1	-	0	196	c.141C>T	c.(139-141)atC>atT	p.I47I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTCATGCTTGATGAGGTAGA	0.522000														27			7		0	0	0.000157383	0	0
MRC2	9902	broad.mit.edu	37	17	60741938	60741938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:60741938G>A	uc002jad.3	+	1	550	c.148G>A	c.(148-150)Gga>Aga	p.G50R	Y_RNA_uc021ubi.1_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	50	Ricin B-type lectin.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CTTCAGCCATGGACTGCAGGG	0.627000														55			8		0	0	0.000274275	0	0
FER1L6	654463	broad.mit.edu	37	8	124968292	124968292	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:124968292C>T	uc003yqw.3	+	1	260	c.54C>T	c.(52-54)atC>atT	p.I18I		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	18						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGGGGTTAATCCTAGCCAACA	0.483000														25			5		0	0	0.000274275	0	0
PIGO	84720	broad.mit.edu	37	9	35092159	35092159	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:35092159G>A	uc003zwd.3	-	6	2121	c.1725C>T	c.(1723-1725)ttC>ttT	p.F575F	PIGO_uc003zwe.3_Intron|PIGO_uc003zwf.3_Intron|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Silent_p.F138F	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	575					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGCCCAAAAGGAAGGGGGTGG	0.562000														6			10		0	0	0.000442599	0	0
RNMT	8731	broad.mit.edu	37	18	13752422	13752422	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:13752422C>T	uc002ksk.1	+	8	1422	c.1355C>T	c.(1354-1356)cCt>cTt	p.P452L	RNMT_uc002ksl.1_Missense_Mutation_p.P452L|RNMT_uc002ksm.1_Missense_Mutation_p.P452L|RNMT_uc010dlk.2_Missense_Mutation_p.P452L|RNMT_uc010xae.1_Non-coding_Transcript	NM_003799	NP_003790	O43148	MCES_HUMAN	Homo sapiens RNA (guanine-7-) methyltransferase (RNMT), mRNA.	452					mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	RNA binding|mRNA (guanine-N7-)-methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|skin(2)	18						GTAAGGTTACCTTTGGTAAGT	0.328000														39			5		0	0	0.00116845	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55351125	55351125	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:55351125C>T	uc002qhm.1	+	4	657	c.611C>T	c.(610-612)tCg>tTg	p.S204L	KIR3DL2_uc010yfj.2_Nonsense_Mutation_p.R198*|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Nonsense_Mutation_p.R205*|KIR3DL2_uc002qhn.1_Intron	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	307					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TGGTCAAACTCGAGTGATCCA	0.557000														90			24		0	0	0.00209593	0	0
LAMA5	3911	broad.mit.edu	37	20	60909380	60909380	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:60909380G>A	uc002ycq.3	-	21	2668	c.2601C>T	c.(2599-2601)taC>taT	p.Y867Y	LAMA5_uc021wfw.1_Silent_p.Y867Y|MIR4758_uc021wfx.1_5'Flank	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	867	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTCCGGGAGGTAGTGGTCCC	0.677000														1			3		0	0	0.00024832	0	0
ETV4	2118	broad.mit.edu	37	17	41610101	41610101	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:41610101C>T	uc002idw.3	-	7	880	c.752G>A	c.(751-753)aGg>aAg	p.R251K	ETV4_uc002idv.3_5'Flank|ETV4_uc010wih.2_Missense_Mutation_p.R197K|ETV4_uc010czh.3_Missense_Mutation_p.R250K|ETV4_uc010wii.2_Missense_Mutation_p.R212K|ETV4_uc002idx.3_Missense_Mutation_p.R251K|ETV4_uc010wij.2_Missense_Mutation_p.R212K	NM_001986	NP_001977	P43268	ETV4_HUMAN	Homo sapiens ets variant 4 (ETV4), transcript variant 1, mRNA.	251					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		CCCTGGGTACCTGTGCCCATT	0.597000			T	"""EWSR1, TMPRSS2, DDX5, KLK2, CANT1"""	"""Ewing sarcoma, Prostate carcinoma"""									41			6		0	0	0.000442599	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54872646	54872646	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:54872646G>A	uc003dhf.3	+	15	1570	c.1522G>A	c.(1522-1524)Gaa>Aaa	p.E508K	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.E414K|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Missense_Mutation_p.E242K	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	508	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.E508*(2)		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)		CCCAGTGAAAGAACTTCTGAA	0.408000														72			20		0	0	0.000586117	0	0
CER1	9350	broad.mit.edu	37	9	14722658	14722658	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:14722658A>G	uc003zlj.3	-	0	58	c.13T>C	c.(13-15)Tta>Cta	p.L5L		NM_005454	NP_005445	O95813	CER1_HUMAN	Homo sapiens cerberus 1, cysteine knot superfamily, homolog (Xenopus laevis) (CER1), mRNA.	5					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		AGCTGAAATAAGAGGAGATGC	0.517000														19			7		0	0	0.00198382	0	0
MARCO	8685	broad.mit.edu	37	2	119739064	119739064	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:119739064C>T	uc002tln.1	+	8	978	c.846C>T	c.(844-846)ttC>ttT	p.F282F	MARCO_uc010yyf.1_Silent_p.F204F	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	282	Collagen-like.		F -> S (in dbSNP:rs6761637).		cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			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						AAGGTGACTTCGGGAGGCCAG	0.527000														12			6		0	0	0.00198382	0	0
IMMT	10989	broad.mit.edu	37	2	86372002	86372002	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:86372002G>A	uc002sqz.4	-	14	2054	c.1666C>T	c.(1666-1668)Cat>Tat	p.H556Y	IMMT_uc002sqy.4_Missense_Mutation_p.H297Y|IMMT_uc010yte.2_Missense_Mutation_p.H509Y|IMMT_uc002srb.4_Missense_Mutation_p.H545Y|IMMT_uc002sra.4_Missense_Mutation_p.H555Y|IMMT_uc010ytd.2_Missense_Mutation_p.H544Y	NM_006839	NP_006830	Q16891	IMMT_HUMAN	Homo sapiens inner membrane protein, mitochondrial (IMMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	556						integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCAACTGCATGGCCTACAAAG	0.438000														42			4		0	0	0.000602214	0	0
MNDA	4332	broad.mit.edu	37	1	158817548	158817548	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158817548G>A	uc001fsz.1	+	5	1218	c.1018G>A	c.(1018-1020)Gaa>Aaa	p.E340K		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	340	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)					CACAATTTATGAAATACAGGA	0.373000														56			12		0	0	0.000422831	0	0
HBP1	26959	broad.mit.edu	37	7	106829856	106829856	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:106829856G>C	uc003vdy.3	+	6	1071	c.885G>C	c.(883-885)gaG>gaC	p.E295D	HBP1_uc011klv.2_Missense_Mutation_p.E305D|HBP1_uc003vdz.3_Missense_Mutation_p.E295D|HBP1_uc003vea.3_Missense_Mutation_p.E295D|HBP1_uc003veb.1_Missense_Mutation_p.E295D	NM_012257	NP_036389	O60381	HBP1_HUMAN	Homo sapiens HMG-box transcription factor 1 (HBP1), transcript variant 2, mRNA.	295	AXH.				Wnt receptor signaling pathway|cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TTACCGTAGAGTGTAAGCTGG	0.338000														72			10		0	0	0.00136819	0	0
IL1RAPL1	11141	broad.mit.edu	37	X	29973593	29973593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:29973593G>A	uc004dby.2	+	10	2255	c.1747G>A	c.(1747-1749)Gag>Aag	p.E583K		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	583	Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GCCTTTTGGGGAGCTGCAGAC	0.507000														15			4		0	0	0.00024832	0	0
FAT4	79633	broad.mit.edu	37	4	126328071	126328071	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:126328071G>A	uc003ifj.4	+	2	5344	c.5344G>A	c.(5344-5346)Gga>Aga	p.G1782R	FAT4_uc011cgp.2_Missense_Mutation_p.G80R	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1782	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATCATTAGTGGAGCTGATGA	0.448000														23			12		0	0	0.00136819	0	0
EMD	2010	broad.mit.edu	37	X	153609346	153609346	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:153609346C>T	uc004fkl.3	+	5	802	c.554C>T	c.(553-555)tCc>tTc	p.S185F		NM_000117	NP_000108	P50402	EMD_HUMAN	Homo sapiens emerin (EMD), mRNA.	185	Interaction with CTNNB1.|Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TATCCTACTTCCTCCTCCACC	0.607000														22			12		0	0	0.00244969	0	0
SELP	6403	broad.mit.edu	37	1	169586560	169586560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:169586560G>A	uc001ggi.4	-	2	252	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	SELP_uc001ggh.3_5'UTR|SELP_uc009wvr.3_Missense_Mutation_p.R63C	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	63	C-type lectin.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.R63C(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TCTGTGTAGCGATTCTGGCAG	0.403000														60			19		0	0	0.00188189	0	0
C1orf168	199920	broad.mit.edu	37	1	57257960	57257960	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:57257960C>T	uc001cym.4	-	1	932	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc009vzv.1_Missense_Mutation_p.G176R	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	176										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GGAGTAAGCCCCATGCCTTTT	0.488000														44			6		0	0	0.00198382	0	0
FAM58BP	339521	broad.mit.edu	37	1	200183373	200183373	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:200183373G>A	uc009wzi.1	+	0	718	c.682G>A	c.(682-684)Gac>Aac	p.D228N		NM_001105517	NP_001098987	P0C7Q3	FA58B_HUMAN	Homo sapiens family with sequence similarity 58, member B, pseudogene (FAM58BP), mRNA.	228					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			lung(1)	1						GTTTAGTGACGACCTTACCAA	0.547000														42			11		0	0	0.000566183	0	0
MEIS3P1	4213	broad.mit.edu	37	17	15690924	15690924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:15690924C>T	uc002gpc.3	+	0	761	c.740C>T	c.(739-741)aCc>aTc	p.T247I						Homo sapiens Meis homeobox 3 pseudogene 1 (MEIS3P1), non-coding RNA.																		GGGGGCTATACCGAGACAGAG	0.587000														8			6		0	0	0.00116845	0	0
FAM47A	158724	broad.mit.edu	37	X	34150032	34150032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:34150032C>T	uc004ddg.3	-	0	416	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	122										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGCTGGGCTTCCACTTGCTCT	0.542000														17			18		0	0	0.000958276	0	0
LMOD2	442721	broad.mit.edu	37	7	123302477	123302477	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:123302477C>T	uc003vky.2	+	1	994	c.837C>T	c.(835-837)ttC>ttT	p.F279F		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	Homo sapiens leiomodin 2 (cardiac) (LMOD2), mRNA.	279						cytoskeleton	actin binding|tropomyosin binding	p.F279F(1)									AGTCCAACTTCATAACGGGAA	0.552000														58			7		0	0	0.000673444	0	0
FUT9	10690	broad.mit.edu	37	6	96651086	96651086	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:96651086C>T	uc003pop.4	+	2	396	c.55C>T	c.(55-57)Ctg>Ttg	p.L19L	FUT9_uc021zcw.1_Silent_p.L19L	NM_006581	NP_006572	Q9Y231	FUT9_HUMAN	Homo sapiens fucosyltransferase 9 (alpha (1,3) fucosyltransferase) (FUT9), mRNA.	19					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CTGCATTATCCTGGGCTGTTT	0.413000														21			7		0	0	0.00198382	0	0
CDK14	5218	broad.mit.edu	37	7	90741893	90741893	+	Silent	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:90741893C>A	uc003uky.2	+	12	1413	c.1191C>A	c.(1189-1191)tcC>tcA	p.S397S	CDK14_uc003ukz.1_Silent_p.S379S|CDK14_uc010les.1_Silent_p.S351S|CDK14_uc011khl.1_Silent_p.S268S	NM_012395	NP_036527	O94921	CDK14_HUMAN	Homo sapiens cyclin-dependent kinase 14 (CDK14), mRNA.	397	Protein kinase.				G2/M transition of mitotic cell cycle|Wnt receptor signaling pathway|cell division|regulation of canonical Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						ACCTGGCCTCCAAGCTCCTAC	0.483000														109			6		0.00198382	0.00662734	0.00198382	1	0
HDAC9	9734	broad.mit.edu	37	7	18705996	18705996	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:18705996G>A	uc003sui.3	+	10	1669	c.1628G>A	c.(1627-1629)gGa>gAa	p.G543E	HDAC9_uc003sue.3_Missense_Mutation_p.G540E|HDAC9_uc011jyd.2_Missense_Mutation_p.G540E|HDAC9_uc003suh.3_Missense_Mutation_p.G540E|HDAC9_uc003suj.3_Missense_Mutation_p.G499E|HDAC9_uc011jya.2_Missense_Mutation_p.G538E|HDAC9_uc003sua.1_Missense_Mutation_p.G518E|HDAC9_uc003sud.2_Missense_Mutation_p.G540E|HDAC9_uc011jyc.2_Missense_Mutation_p.G499E|HDAC9_uc011jyb.2_Missense_Mutation_p.G496E|HDAC9_uc003suf.2_Missense_Mutation_p.G571E|HDAC9_uc010kud.2_Missense_Mutation_p.G543E|HDAC9_uc011jye.2_Missense_Mutation_p.G512E|HDAC9_uc011jyf.2_Missense_Mutation_p.G463E|HDAC9_uc010kue.1_Intron	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	540					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GACACACTGGGACAAGTTGGG	0.547000											OREG0017877	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		7			4		0	0	0.00024832	0	0
ADAM18	8749	broad.mit.edu	37	8	39535044	39535044	+	Silent	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:39535044T>G	uc003xni.3	+	14	1675	c.1620T>G	c.(1618-1620)ccT>ccG	p.P540P	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Silent_p.P516P	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	540	Cys-rich.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			AACCATTACCTTGTGAACGGA	0.308000														25			8		0	0	0.000157383	0	0
SYNRG	11276	broad.mit.edu	37	17	35914040	35914040	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:35914040G>A	uc002hoa.3	-	13	1868	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F	SYNRG_uc010wde.2_Silent_p.F517F|SYNRG_uc010wdf.2_Silent_p.F517F|SYNRG_uc002hoc.3_Silent_p.F516F|SYNRG_uc002hoe.3_Silent_p.F517F|SYNRG_uc002hod.3_Silent_p.F517F|SYNRG_uc010wdg.2_Silent_p.F434F|SYNRG_uc002hob.3_Silent_p.F595F|SYNRG_uc002hof.3_Silent_p.F307F|SYNRG_uc010cvd.1_Silent_p.F395F	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	595	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTCCTGAGGGGAAGGATGGTG	0.418000														90			19		0	0	0.00121646	0	0
SLC44A4	80736	broad.mit.edu	37	6	31842599	31842599	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31842599C>T	uc010jti.3	-	5	433	c.367G>A	c.(367-369)Gac>Aac	p.D123N	SLC44A4_uc011dol.2_Missense_Mutation_p.D47N|SLC44A4_uc011dom.2_Intron	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	123			D -> V (in dbSNP:rs12661281).			integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GTCCATGGGTCCTCCGGGCAG	0.542000														338			48		0	0	0.000781405	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150416146	150416146	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:150416146G>A	uc003whq.3	+	1	151	c.11G>A	c.(10-12)aGg>aAg	p.R4K	GIMAP1-GIMAP5_uc022apw.1_Missense_Mutation_p.R4K	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		ATGGGAGGAAGGAAGATGGCG	0.408000														61			8		0	0	0.000442599	0	0
HERC2	8924	broad.mit.edu	37	15	28515964	28515964	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:28515964G>A	uc001zbj.3	-	9	1240	c.1134C>T	c.(1132-1134)acC>acT	p.T378T	HERC2_uc001zbl.1_Silent_p.T73T	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	378					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)		CTTGTGGAAGGGTGAGGTACC	0.483000														17			8		0	0	0.000274275	0	0
TLE6	79816	broad.mit.edu	37	19	2987234	2987234	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:2987234G>A	uc002lwt.2	+	6	648	c.539G>A	c.(538-540)aGa>aAa	p.R180K	TLE6_uc002lwu.2_Missense_Mutation_p.R57K	NM_001143986	NP_079036	Q9H808	TLE6_HUMAN	Homo sapiens transducin-like enhancer of split 6 (E(sp1) homolog, Drosophila) (TLE6), transcript variant 1, mRNA.	57					regulation of transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|urinary_tract(1)	10				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)		CCCAGAGACAGACGTGAGTGT	0.607000														36			12		0	0	0.00136819	0	0
GRXCR2	643226	broad.mit.edu	37	5	145246210	145246210	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:145246210C>T	uc003lns.1	-	1	418	c.418G>A	c.(418-420)Gat>Aat	p.D140N		NM_001080516	NP_001073985	A6NFK2	GRCR2_HUMAN	Homo sapiens glutaredoxin, cysteine rich 2 (GRXCR2), mRNA.	140								p.D140Y(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CTCACAAAATCTCTCTTGTCC	0.418000														72			17		0	0	0.00074312	0	0
ADAM32	203102	broad.mit.edu	37	8	39044437	39044437	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:39044437G>A	uc003xmt.4	+	10	1170	c.925G>A	c.(925-927)Gag>Aag	p.E309K	ADAM32_uc011lch.2_Intron|ADAM32_uc003xmu.4_Intron	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	309	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			GTACCCCAAGGAGATAACTCT	0.328000														83			24		0	0	0.00106085	0	0
MACF1	23499	broad.mit.edu	37	1	39790319	39790319	+	Splice_Site	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:39790319T>C	uc021olt.1	+	34	4457	c.4405_splice	c.e34-1	p.V1469_splice	MACF1_uc021ols.1_Splice_Site_p.V1469_splice|MACF1_uc001cdc.2_Splice_Site_p.V1469_splice|MACF1_uc001cda.1_Splice_Site_p.V1377_splice|MACF1_uc009vvq.1_Splice_Site_p.V526_splice|MACF1_uc001cdb.1_Splice_Site_p.V556_splice	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	3411					Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACCATGTAGGTTCTGTCAGAA	0.308000														70			22		0	0	0.00229938	0	0
GPR116	221395	broad.mit.edu	37	6	46826049	46826049	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:46826049G>A	uc003oyo.3	-	16	3880	c.3591C>T	c.(3589-3591)atC>atT	p.I1197I	GPR116_uc011dwj.1_Silent_p.I752I|GPR116_uc011dwk.1_Silent_p.I626I|GPR116_uc003oyp.3_Silent_p.I1055I|GPR116_uc003oyq.3_Silent_p.I1197I|GPR116_uc010jzi.1_Silent_p.I869I	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1197					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AAGGCCTCAGGATCTTGGTGA	0.532000														84			9		0	0	0.000978159	0	0
SIGLEC9	27180	broad.mit.edu	37	19	51631298	51631298	+	Splice_Site	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:51631298T>C	uc010yct.2	+	5	1201	c.1106_splice	c.e5+2	p.V369_splice	SIGLEC9_uc002pvu.3_Splice_Site_p.V369_splice	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	369					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CTTCGTTGTGTAAGCATGGAC	0.612000														67			17		0	0	0.00074312	0	0
FCAMR	83953	broad.mit.edu	37	1	207131974	207131974	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:207131974C>T	uc001hfa.4	-	7	2121	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	FCAMR_uc001hfb.3_3'UTR|FCAMR_uc009xca.2_3'UTR	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN	Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.	496						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						GGGTTCACTTCCAGAAAATGT	0.537000														61			11		0	0	0.00185496	0	0
SMARCA4	6597	broad.mit.edu	37	19	11152195	11152195	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:11152195G>C	uc010dxp.3	+	30	4743	c.4383G>C	c.(4381-4383)aaG>aaC	p.K1461N	SMARCA4_uc010dxo.3_Missense_Mutation_p.K1493N|SMARCA4_uc002mqf.4_Missense_Mutation_p.K1461N|SMARCA4_uc010dxq.3_Missense_Mutation_p.K1428N|SMARCA4_uc010dxr.3_Missense_Mutation_p.K1428N|SMARCA4_uc002mqj.4_Missense_Mutation_p.K1431N|SMARCA4_uc010dxs.3_Missense_Mutation_p.K1431N|SMARCA4_uc002mqh.4_Missense_Mutation_p.K551N	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1461					chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCACCAAGAAGATGAAGAAGA	0.637000			"""F, N, Mis"""		NSCLC									11			8		0	0	0.000442599	0	0
OR52M1	119772	broad.mit.edu	37	11	4567141	4567141	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:4567141C>T	uc010qyf.2	+	0	721	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTAAAACCCTGGGGACATG	0.512000														36			12		0	0	0.00136819	0	0
RPAP1	26015	broad.mit.edu	37	15	41816304	41816304	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:41816304C>T	uc001zod.3	-	15	2348	c.2224G>A	c.(2224-2226)Gaa>Aaa	p.E742K		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	742						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CTGATGGTTTCAGCAGGGGTA	0.622000														27			9		0	0	0.000442599	0	0
TRPS1	7227	broad.mit.edu	37	8	116599237	116599237	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:116599237G>A	uc003yny.3	-	4	3269	c.2691C>T	c.(2689-2691)tcC>tcT	p.S897S	TRPS1_uc011lhy.2_Silent_p.S888S|TRPS1_uc003ynz.3_Silent_p.S884S|TRPS1_uc010mcy.3_Silent_p.S884S	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	884					NLS-bearing substrate import into nucleus|negative regulation of transcription from RNA polymerase II promoter|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CCCGTAACAGGGACTGGGATT	0.493000									Langer-Giedion syndrome					65			15		0	0	0.000422831	0	0
FAM47A	158724	broad.mit.edu	37	X	34148365	34148365	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:34148365C>T	uc004ddg.3	-	0	2083	c.2031G>A	c.(2029-2031)agG>agA	p.R677R		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	677										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGTGGAATTTCCTGCCCCAGT	0.433000														50			15		0	0	0.000422831	0	0
ANO4	121601	broad.mit.edu	37	12	101477456	101477456	+	Splice_Site	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:101477456G>A	uc010svm.1	+	16	1968	c.1396_splice	c.e16-1	p.E466_splice	ANO4_uc001thw.2_Splice_Site_p.E431_splice|ANO4_uc001thx.2_Splice_Site_p.E466_splice|ANO4_uc001thy.2_Intron	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	466	Poly-Glu.					chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TGTCCTTTAGGAAGAAATACG	0.378000										HNSCC(74;0.22)				43			8		0	0	0.000274275	0	0
PCDH18	54510	broad.mit.edu	37	4	138453061	138453061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:138453061G>A	uc003ihe.4	-	0	569	c.182C>T	c.(181-183)cCt>cTt	p.P61L	PCDH18_uc003ihf.4_Missense_Mutation_p.P54L|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Intron|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	61	Cadherin 1.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AACAGTAGAAGGATTAGGAAG	0.413000														22			7		0	0	0.00198382	0	0
FEZF2	55079	broad.mit.edu	37	3	62356014	62356014	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:62356014T>C	uc003dlh.2	-	3	1331	c.1124A>G	c.(1123-1125)aAc>aGc	p.N375S	FEZF2_uc003dli.2_Missense_Mutation_p.N375S	NM_018008	NP_060478	Q8TBJ5	FEZF2_HUMAN	Homo sapiens FEZ family zinc finger 2 (FEZF2), mRNA.	375					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		GTTCTTGTAGTTCCCTACAAC	0.532000														43			25		0	0	0.00106085	0	0
DDN	23109	broad.mit.edu	37	12	49390579	49390579	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:49390579G>A	uc001rsv.1	-	1	2098	c.2080C>T	c.(2080-2082)Ctc>Ttc	p.L694F		NM_015086	NP_055901	O94850	DEND_HUMAN	Homo sapiens dendrin (DDN), mRNA.	694	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						ACCCCGAAGAGGACCTCCTCG	0.552000											OREG0021778	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		27			20		0	0	0.000586117	0	0
CETN1	1068	broad.mit.edu	37	18	580874	580874	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:580874G>A	uc002kko.1	+	0	506	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K		NM_004066	NP_004057	Q12798	CETN1_HUMAN	Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA.	156	EF-hand 4.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						TGGGGACGGCGAAGTGAACGA	0.537000														34			9		0	0	0.000442599	0	0
ZNF556	80032	broad.mit.edu	37	19	2878022	2878022	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:2878022C>G	uc002lwp.1	+	3	1153	c.1066C>G	c.(1066-1068)Cgc>Ggc	p.R356G	ZNF556_uc002lwq.3_Missense_Mutation_p.R355G	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCGAGGCCTCGCCCCTCCAC	0.483000														13			12		0	0	0.00136819	0	0
OLFM3	118427	broad.mit.edu	37	1	102296230	102296230	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:102296230G>A	uc001duf.2	-	2	501	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	OLFM3_uc001dug.2_Nonsense_Mutation_p.Q124*|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Nonsense_Mutation_p.Q49*|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	144						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AAACCTACCTGAAAATGCTTG	0.418000														86			35		0	0	0.000680045	0	0
MET	4233	broad.mit.edu	37	7	116380042	116380042	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:116380042G>A	uc003vij.3	+	3	1618	c.1431G>A	c.(1429-1431)gtG>gtA	p.V477V	MET_uc022akk.1_Silent_p.V477V|MET_uc010lkh.3_Silent_p.V477V|MET_uc011knc.1_Silent_p.V477V|MET_uc011knd.2_Silent_p.V477V|MET_uc011knf.2_Silent_p.V477V|MET_uc011kne.2_Silent_p.V477V|MET_uc011kng.1_Silent_p.V477V|MET_uc011knh.1_Silent_p.V477V|MET_uc011kni.2_Silent_p.V477V|MET_uc011knj.2_Silent_p.V47V|MET_uc011kna.1_Silent_p.V477V|MET_uc011knb.1_Silent_p.V477V	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	477	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.H476Y(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCCCTCATGTGAATTTTCTCC	0.403000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					123			26		0	0	0.000878237	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68250125	68250125	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:68250125G>A	uc001xka.2	-	20	3883	c.3744C>T	c.(3742-3744)tcC>tcT	p.S1248S	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Silent_p.S1248S	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1248					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GAGTCAGGAGGGAGGAGGTCT	0.592000														27			9		0	0	0.000442599	0	0
MGAM	8972	broad.mit.edu	37	7	141795456	141795456	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:141795456C>T	uc003vwy.3	+	40	4916	c.4862C>T	c.(4861-4863)aCc>aTc	p.T1621I		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1621	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TATCTGTATACCTTGATGCAT	0.502000														142			21		0	0	0.00229938	0	0
TIMELESS	8914	broad.mit.edu	37	12	56811925	56811925	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:56811925G>A	uc001slf.2	-	26	3615	c.3447C>T	c.(3445-3447)tcC>tcT	p.S1149S		NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	1149					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						TACCCTCTGGGGATGCCAGGC	0.542000														97			33		0	0	0.00111076	0	0
CLMP	79827	broad.mit.edu	37	11	122968638	122968638	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:122968638C>T	uc001pyt.3	-	1	410	c.51G>A	c.(49-51)ttG>ttA	p.L17L		NM_024769	NP_079045	Q9H6B4	CLMP_HUMAN	Homo sapiens CXADR-like membrane protein (CLMP), mRNA.	17						integral to membrane|tight junction				endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	14						TGTGAGTCCCCAAGGTTCCAA	0.443000														82			26		0	0	0.00127121	0	0
TGFBI	7045	broad.mit.edu	37	5	135382658	135382658	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:135382658C>T	uc003lbf.4	+	4	739	c.578C>T	c.(577-579)tCt>tTt	p.S193F	TGFBI_uc003lbg.4_5'UTR|TGFBI_uc003lbh.4_Missense_Mutation_p.S19F|TGFBI_uc011cyb.2_Missense_Mutation_p.S19F	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	193	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACCCTCACCTCTATGTACCAG	0.522000														11			5		0	0	0.000602214	0	0
TSNAXIP1	55815	broad.mit.edu	37	16	67861275	67861275	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:67861275G>A	uc010vka.2	+	13	1864	c.1788G>A	c.(1786-1788)atG>atA	p.M596I	TSNAXIP1_uc010vjz.1_Missense_Mutation_p.M419I|TSNAXIP1_uc002euf.4_Missense_Mutation_p.M275I|TSNAXIP1_uc010vkb.2_Missense_Mutation_p.M527I|TSNAXIP1_uc002eug.4_Missense_Mutation_p.M250I|TSNAXIP1_uc002euh.4_Missense_Mutation_p.M250I|TSNAXIP1_uc002eui.4_Missense_Mutation_p.M250I|TSNAXIP1_uc002euj.3_Missense_Mutation_p.M542I|TSNAXIP1_uc002euk.3_Missense_Mutation_p.M275I	NM_018430	NP_060900	Q2TAA8	TXIP1_HUMAN	Homo sapiens translin-associated factor X interacting protein 1 (TSNAXIP1), mRNA.	542					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CACTGTTTATGGAGGTGGGTG	0.622000														22			5		0	0	0.00198382	0	0
ZNF165	7718	broad.mit.edu	37	6	28056442	28056442	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:28056442G>A	uc021yro.1	+	3	1479	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	ZNF165_uc003nkh.3_Missense_Mutation_p.E218K|ZNF165_uc003nki.4_Missense_Mutation_p.E218K|ZSCAN12P1_uc003nkj.4_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	Homo sapiens zinc finger protein 165 (ZNF165), mRNA.	218					viral reproduction	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(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATACATATCAGAAGCATCTGG	0.408000														242			46		0	0	0.000781405	0	0
COL19A1	1310	broad.mit.edu	37	6	70890372	70890372	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:70890372G>A	uc003pfc.1	+	43	2849	c.2732G>A	c.(2731-2733)gGa>gAa	p.G911E		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	911	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GGACCTGTTGGAGATATAGGT	0.393000														29			5		0	0	0.000602214	0	0
TPTE2	93492	broad.mit.edu	37	13	20048070	20048070	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:20048070G>A	uc001umd.3	-	6	587	c.376C>T	c.(376-378)Cga>Tga	p.R126*	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Nonsense_Mutation_p.R89*|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	126						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R89G(1)|p.R126G(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		ACAAATACTCGAAGAAGAACA	0.358000														39			13		0	0	0.000308642	0	0
BMP5	653	broad.mit.edu	37	6	55625330	55625330	+	Splice_Site	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:55625330A>T	uc003pcq.3	-	5	1740	c.1028_splice	c.e5-1	p.D343_splice	BMP5_uc011dxf.2_Splice_Site_p.D343_splice	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	343					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TTGTGTTATAATCTGAAGATA	0.358000														14			8		0	0	0.000157383	0	0
ADPGK	83440	broad.mit.edu	37	15	73052767	73052767	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:73052767G>A	uc002avg.4	-	3	718	c.624C>T	c.(622-624)ctC>ctT	p.L208L	ADPGK_uc010ukw.2_Silent_p.L150L|ADPGK_uc002avf.4_Silent_p.L208L|ADPGK_uc002avi.4_Silent_p.L86L|ADPGK_uc002avh.4_5'UTR	NM_031284	NP_112574	Q9BRR6	ADPGK_HUMAN	Homo sapiens ADP-dependent glucokinase (ADPGK), transcript variant 1, mRNA.	208	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						ACTCTAAAATGAGGTGGAACT	0.458000														145			34		0	0	0.00128727	0	0
CPN1	1369	broad.mit.edu	37	10	101829480	101829480	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:101829480C>T	uc001kql.2	-	2	827	c.567G>A	c.(565-567)tgG>tgA	p.W189*		NM_001308	NP_001299	P15169	CBPN_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA.	189	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CCTGACTTTTCCAGTTGTCTG	0.448000														61			19		0	0	0.00074312	0	0
LRRC55	219527	broad.mit.edu	37	11	56949697	56949697	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:56949697C>T	uc001njl.2	+	0	477	c.330C>T	c.(328-330)acC>acT	p.T110T		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	80						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CAATGGACACCCGAAACCTCA	0.607000														14			5		0	0	0.00198382	0	0
EIF2C2	27161	broad.mit.edu	37	8	141566090	141566090	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:141566090G>A	uc003yvn.3	-	9	1215	c.1174C>T	c.(1174-1176)Cca>Tca	p.P392S	EIF2C2_uc010meo.3_Missense_Mutation_p.P392S|EIF2C2_uc010men.3_Missense_Mutation_p.P315S	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	392					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|cytosol|mRNA cap binding complex|micro-ribonucleoprotein complex|nucleus|polysome	RNA 7-methylguanosine cap binding|endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			CGGACGTATGGATCTGTGTTG	0.562000														91			9		0	0	0.000978159	0	0
ZNF556	80032	broad.mit.edu	37	19	2877835	2877835	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:2877835G>A	uc002lwp.1	+	3	966	c.879G>A	c.(877-879)ggG>ggA	p.G293G	ZNF556_uc002lwq.3_Silent_p.G292G	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCAGTGTGGGAAAGCCTACT	0.512000														19			11		0	0	0.000673444	0	0
OR6B1	135946	broad.mit.edu	37	7	143701904	143701904	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:143701904T>A	uc003wdt.1	+	0	815	c.815T>A	c.(814-816)aTt>aAt	p.I272N		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					AACAAAATTATTTCCATCTTC	0.418000														32			64		0	0	0.000781405	0	0
NCDN	23154	broad.mit.edu	37	1	36028899	36028899	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:36028899C>T	uc001bza.3	+	5	1609	c.1482C>T	c.(1480-1482)ttC>ttT	p.F494F	NCDN_uc001bzb.3_Silent_p.F494F|NCDN_uc001bzc.3_Silent_p.F477F	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.	494					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCAAGTATTTCCTGCAGCAGT	0.622000														44			12		0	0	0.00136819	0	0
SPATA4	132851	broad.mit.edu	37	4	177113961	177113961	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:177113961C>T	uc003iuo.1	-	3	614	c.505G>A	c.(505-507)Gac>Aac	p.D169N		NM_144644	NP_653245	Q8NEY3	SPAT4_HUMAN	Homo sapiens spermatogenesis associated 4 (SPATA4), mRNA.	169					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		TAGCTATAGTCCGTGAAATTC	0.328000														24			13		0	0	0.00244969	0	0
CUX1	1523	broad.mit.edu	37	7	101923374	101923374	+	Missense_Mutation	SNP	G	A	A	rs139293638		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:101923374G>A	uc003uyt.3	+	18	1853	c.1726G>A	c.(1726-1728)Gag>Aag	p.E576K	CUX1_uc003uyw.3_Missense_Mutation_p.E530K|CUX1_uc003uyv.3_Missense_Mutation_p.E560K|CUX1_uc003uyu.3_Missense_Mutation_p.E574K|CUX1_uc011kkn.2_Missense_Mutation_p.E537K	NM_001913	NP_001904	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 2, mRNA.	165					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E576K(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GTCCCAGTACGAGGAGCGCCT	0.672000														45			7		0	0	0.000442599	0	0
BAZ2A	11176	broad.mit.edu	37	12	57000471	57000471	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:57000471C>T	uc001slq.1	-	10	2339	c.2145G>A	c.(2143-2145)aaG>aaA	p.K715K	BAZ2A_uc001slp.1_Silent_p.K713K|BAZ2A_uc009zov.1_5'Flank|BAZ2A_uc009zow.1_Silent_p.K683K	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	715	Lys-rich.				DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GCCTCATCTTCTTCTTGCTTT	0.428000														242			67		0	0	0.000781405	0	0
NUP98	4928	broad.mit.edu	37	11	3704564	3704564	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:3704564G>A	uc001lyh.3	-	29	5205	c.4784C>T	c.(4783-4785)cCt>cTt	p.P1595L	NUP98_uc001lyi.3_Missense_Mutation_p.P1521L|NUP98_uc001lyg.3_Missense_Mutation_p.P560L	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	1612					DNA replication|carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|mitotic prometaphase|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|cytosol|nuclear membrane|nucleoplasm	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CCATTTGGCAGGTACACGGAG	0.537000			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML									54			20		0	0	0.00278032	0	0
LRP1B	53353	broad.mit.edu	37	2	141459397	141459397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:141459397G>A	uc002tvj.1	-	39	7292	c.6320C>T	c.(6319-6321)tCt>tTt	p.S2107F		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	2107					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.S2107F(2)|p.S2107T(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCTTCTGACAGACCCGTTTGC	0.418000										TSP Lung(27;0.18)				25			6		0	0	0.000157383	0	0
SLC34A3	142680	broad.mit.edu	37	9	140126549	140126549	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:140126549G>A	uc022bqf.1	+	2	332	c.111G>A	c.(109-111)ttG>ttA	p.L37L	SLC34A3_uc004cmc.1_5'UTR|SLC34A3_uc011met.2_Silent_p.L37L|SLC34A3_uc004cmf.1_Silent_p.L37L	NM_001177316	NP_543153	Q8N130	NPT2C_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 3 (SLC34A3), transcript variant 1, mRNA.	37					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CTCCAGTCTTGGAGGAAGGGG	0.632000														43			12		0	0	0.000308642	0	0
APOBEC1	339	broad.mit.edu	37	12	7805350	7805350	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:7805350G>A	uc001qtb.3	-	2	160	c.126C>T	c.(124-126)atC>atT	p.I42I	APOBEC1_uc001qtc.3_5'UTR	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	42					DNA demethylation|cytidine to uridine editing|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	RNA binding|cytidine deaminase activity|zinc ion binding	p.E41K(1)		kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TGCCCCACTTGATTTCGTAGA	0.438000														26			14		0	0	0.000308642	0	0
LOC401010	401010	broad.mit.edu	37	2	132200288	132200288	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:132200288G>A	uc002tst.2	-	0	2180	c.1714C>T	c.(1714-1716)Cct>Tct	p.P572S						Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) pseudogene (LOC401010), non-coding RNA.																		AGCTCCCCAGGGGCCAGCCCC	0.662000														5			3		0	0	0.00024832	0	0
USH2A	7399	broad.mit.edu	37	1	216595568	216595568	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:216595568G>A	uc001hku.1	-	1	498	c.111C>T	c.(109-111)ttC>ttT	p.F37F	USH2A_uc001hkv.3_Silent_p.F37F	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	37					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.L36I(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCAGCCTTGGGAAAAGACCTC	0.463000										HNSCC(13;0.011)				33			7		0	0	0.00198382	0	0
YTHDF1	54915	broad.mit.edu	37	20	61833700	61833700	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:61833700G>A	uc002yeh.3	-	3	1886	c.1592C>T	c.(1591-1593)tCc>tTc	p.S531F	YTHDF1_uc011aaq.2_Missense_Mutation_p.S481F	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	531										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						GTCGAAGATGGAGGTTGTGTG	0.542000														52			8		0	0	0.000274275	0	0
TPD52	7163	broad.mit.edu	37	8	80965594	80965594	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:80965594C>T	uc022awn.1	-	2	649	c.327G>A	c.(325-327)cgG>cgA	p.R109R	TPD52_uc010lzr.3_Non-coding_Transcript|TPD52_uc010lzs.1_Non-coding_Transcript|TPD52_uc003ybs.1_Silent_p.R69R|TPD52_uc003ybt.1_Silent_p.R69R|TPD52_uc003ybq.1_Non-coding_Transcript|TPD52_uc003ybr.1_Silent_p.R109R|TPD52_uc022awm.1_Non-coding_Transcript|TPD52_uc022awo.1_Silent_p.R109R|TPD52_uc022awp.1_Silent_p.R109R	NM_001025253	NP_001020424	P55327	TPD52_HUMAN	Homo sapiens tumor protein D52 (TPD52), transcript variant 2, mRNA.	109					B cell differentiation|anatomical structure morphogenesis|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			TTCCAAGTTTCCGCTTGATCT	0.428000														77			12		0	0	0.00136819	0	0
C14orf45	80127	broad.mit.edu	37	14	74500775	74500775	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:74500775C>T	uc010tup.2	+	3	519	c.396C>T	c.(394-396)ttC>ttT	p.F132F	C14orf45_uc001xpm.1_Non-coding_Transcript	NM_025057	NP_079333	Q8ND07	CN045_HUMAN	Homo sapiens chromosome 14 open reading frame 45 (C14orf45), mRNA.	132										large_intestine(1)|lung(2)|prostate(1)	4				BRCA - Breast invasive adenocarcinoma(234;0.00351)		AGGGACAGTTCCATCAAAAAG	0.378000														30			9		0	0	0.000442599	0	0
SIM1	6492	broad.mit.edu	37	6	100841367	100841367	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:100841367G>A	uc003pqj.4	-	9	2033	c.1566C>T	c.(1564-1566)atC>atT	p.I522I	SIM1_uc021zdg.1_Silent_p.I522I|SIM1_uc010kcu.3_Silent_p.I522I	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	522	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TCTTACCATGGATCCTGTGGA	0.527000														37			9		0	0	0.000978159	0	0
EPB41L1	2036	broad.mit.edu	37	20	34797712	34797712	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:34797712C>T	uc010gfq.3	+	4	2631	c.2268C>T	c.(2266-2268)ttC>ttT	p.F756F	EPB41L1_uc002xeu.3_Silent_p.F583F|EPB41L1_uc010zvo.1_Silent_p.F657F|EPB41L1_uc002xev.3_Silent_p.F657F|EPB41L1_uc002xew.3_Silent_p.F548F|EPB41L1_uc002xex.3_Intron|EPB41L1_uc002xey.3_Intron|EPB41L1_uc002xez.3_Silent_p.F583F|EPB41L1_uc002xfb.3_Silent_p.F657F	NM_012156	NP_036288	Q9H4G0	E41L1_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 1 (EPB41L1), transcript variant 1, mRNA.	657	Carboxyl-terminal (CTD).				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)					GCCTGCTGTTCTCCCGGGATC	0.637000														15			4		0	0	0.00024832	0	0
TRPC5	7224	broad.mit.edu	37	X	111025181	111025181	+	Silent	SNP	G	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:111025181G>T	uc004epl.1	-	7	3001	c.2082C>A	c.(2080-2082)cgC>cgA	p.R694R	TRPC5_uc004epm.1_Silent_p.R694R	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	694					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						TTCTCAAGTTGCGCCTTCTCC	0.443000														53			25		3.73148e-12	1.26144e-11	0.00127121	1	0
ANKRD55	79722	broad.mit.edu	37	5	55398338	55398338	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:55398338G>A	uc003jqu.3	-	10	1858	c.1706C>T	c.(1705-1707)cCc>cTc	p.P569L	ANKRD55_uc003jqt.3_Missense_Mutation_p.P281L	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	Homo sapiens ankyrin repeat domain 55 (ANKRD55), mRNA.	568										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				ATCTGGTAGGGGAGCTAGGTT	0.368000														44			7		0	0	0.000157383	0	0
ZNF449	203523	broad.mit.edu	37	X	134483107	134483107	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:134483107C>T	uc004eys.3	+	2	592	c.427C>T	c.(427-429)Cta>Tta	p.L143L	ZNF449_uc004eyq.1_3'UTR|ZNF449_uc004eyt.3_Silent_p.L23L	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	Homo sapiens zinc finger protein 449 (ZNF449), mRNA.	143					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AACCATGCACCTAGAGTCACC	0.572000														32			12		0	0	0.00136819	0	0
STAT3	6774	broad.mit.edu	37	17	40500457	40500457	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:40500457G>A	uc002hzl.1	-	1	318	c.78C>T	c.(76-78)ttC>ttT	p.F26F	STAT3_uc002hzk.1_Silent_p.F26F|STAT3_uc002hzm.1_Silent_p.F26F|STAT3_uc010wgh.1_Intron|STAT3_uc002hzn.1_Silent_p.F26F	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	26					JAK-STAT cascade involved in growth hormone signaling pathway|cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	p.S25N(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		GCTCCATTGGGAAGCTGTCAC	0.498000									Hyperimmunoglobulin E Recurrent Infection Syndrome					42			39		0	0	0.00148497	0	0
BTN3A3	10384	broad.mit.edu	37	6	26452256	26452256	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:26452256C>T	uc003nhz.3	+	10	1615	c.1372C>T	c.(1372-1374)Cct>Tct	p.P458S	BTN3A3_uc011dkn.2_Missense_Mutation_p.P409S|BTN3A3_uc021ynh.1_Missense_Mutation_p.P248S	NM_006994	NP_008925	O00478	BT3A3_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A3 (BTN3A3), transcript variant 1, mRNA.	458	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TCCTGAGCCTCCTAGGAAAGT	0.498000														55			9		0	0	0.000673444	0	0
CFB	629	broad.mit.edu	37	6	31918935	31918936	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31918935_31918936CC>AA	uc003nyj.4	+	14	2148_2149	c.1870_1871CC>AA	c.(1870-1872)cct>AAt	p.P624N	CFB_uc011dor.2_Missense_Mutation_p.P1126N	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	624	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGAGCTGCTCCCTGCACAGGAT	0.510000														287			12		0	0	6.4e-05	0	0
PITPNM3	83394	broad.mit.edu	37	17	6376061	6376061	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:6376061C>T	uc002gdd.4	-	10	1496	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K	PITPNM3_uc010cln.3_Missense_Mutation_p.E413K|PITPNM3_uc010clm.3_5'UTR|PITPNM3_uc002gdc.4_Missense_Mutation_p.E40K	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	449	DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		AACTTGGGCTCCAGCAGTGGC	0.652000														18			7		0	0	0.000274275	0	0
TMEM125	128218	broad.mit.edu	37	1	43738454	43738454	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:43738454G>A	uc021omm.1	+	0	61	c.61G>A	c.(61-63)Gag>Aag	p.E21K	EBNA1BP2_uc001cio.3_5'Flank|TMEM125_uc021oml.1_Missense_Mutation_p.E21K|TMEM125_uc001cir.3_Missense_Mutation_p.E21K	NM_144626	NP_653227	Q96AQ2	TM125_HUMAN	Homo sapiens transmembrane protein 125 (TMEM125), mRNA.	21						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CATGCTGGCAGAGCAGGTGGA	0.711000														3			5		0	0	0.00116845	0	0
C19orf21	126353	broad.mit.edu	37	19	763503	763503	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:763503C>T	uc002lpo.3	+	4	2036	c.1953C>T	c.(1951-1953)gtC>gtT	p.V651V		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	651										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|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)		TTTTGCAGGTCCTGGAAGCCA	0.582000														4			7		0	0	0.00198382	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140711095	140711095	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140711095C>T	uc003lji.2	+	0	844	c.844C>T	c.(844-846)Cac>Tac	p.H282Y	PCDHGC5_uc011dan.2_Missense_Mutation_p.H282Y	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	283	Cadherin 3.				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)			GTACTCCTTTCACAATGTAGA	0.423000														31			15		0	0	0.000566183	0	0
DYRK2	8445	broad.mit.edu	37	12	68052205	68052205	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:68052205C>T	uc001str.4	+	2	1920	c.1518C>T	c.(1516-1518)ccC>ccT	p.P506P	DYRK2_uc001sts.4_Silent_p.P433P|DYRK2_uc021raa.1_Silent_p.P433P	NM_006482	NP_003574	Q92630	DYRK2_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 2 (DYRK2), transcript variant 2, mRNA.	506	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)		GTGATGATCCCCTTTTCCTTG	0.612000														30			9		0	0	0.000442599	0	0
OR13A1	79290	broad.mit.edu	37	10	45799011	45799011	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:45799011C>T	uc001jcc.1	-	3	1169	c.860G>A	c.(859-861)gGg>gAg	p.G287E	OR13A1_uc001jcd.1_Missense_Mutation_p.G283E|OR13A1_uc021ppq.1_Missense_Mutation_p.G287E	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						CTTGCTCTTCCCTGCGCTGTA	0.547000														14			5		0	0	0.000602214	0	0
KBTBD8	84541	broad.mit.edu	37	3	67053899	67053899	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:67053899C>T	uc003dmy.3	+	2	561	c.508C>T	c.(508-510)Cga>Tga	p.R170*	KBTBD8_uc011bfv.2_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	170	BACK.									breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		ACTCGGAGATCGATCAAAAGA	0.378000														38			13		0	0	0.000308642	0	0
TNFRSF11B	4982	broad.mit.edu	37	8	119936639	119936639	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:119936639G>A	uc003yon.4	-	4	1503	c.1180C>T	c.(1180-1182)Caa>Taa	p.Q394*		NM_002546	NP_002537	O00300	TR11B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11b (TNFRSF11B), mRNA.	394					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			TTTACTGATTGGACCTGGTTA	0.393000														141			21		0	0	0.00278032	0	0
NEU1	4758	broad.mit.edu	37	6	31827673	31827673	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31827673C>T	uc003nxq.4	-	5	1227	c.1071G>A	c.(1069-1071)cgG>cgA	p.R357R		NM_000434	NP_000425	Q99519	NEUR1_HUMAN	Homo sapiens sialidase 1 (lysosomal sialidase) (NEU1), mRNA.	357						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	CTGTCTCTTTCCGCCATGAGG	0.617000														311			46		0	0	0.000781405	0	0
FAM123C	205147	broad.mit.edu	37	2	131520273	131520273	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:131520273C>T	uc021voy.1	+	0	628	c.628C>T	c.(628-630)Ctg>Ttg	p.L210L	FAM123C_uc002trw.2_Silent_p.L210L|FAM123C_uc010fmv.2_Silent_p.L210L|FAM123C_uc010fms.1_Silent_p.L210L|FAM123C_uc010fmt.1_Silent_p.L210L|FAM123C_uc010fmu.1_Silent_p.L210L	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	210										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GGGGCCGGGGCTGGACGGCCT	0.701000														13			10		0	0	0.000673444	0	0
ANAPC1	64682	broad.mit.edu	37	2	87414363	87414363	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:87414363C>T	uc002ssh.3	+	5	485	c.430C>T	c.(430-432)Cag>Tag	p.Q144*	RMND5A_uc002srs.4_Intron			Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1, mRNA (cDNA clone IMAGE:3834642), partial cds.	1795					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						AGCAATGGATCAGGTATGGAT	0.408000														57			17		0	0	0.00074312	0	0
ARL4C	10123	broad.mit.edu	37	2	235404927	235404927	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:235404927C>G	uc002vvm.4	-	0	307	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	ARL4C_uc002vvn.3_Missense_Mutation_p.E102Q	NM_005737	NP_005728	P56559	ARL4C_HUMAN	Homo sapiens ADP-ribosylation factor-like 4C (ARL4C), mRNA.	102					endocytic recycling|small GTPase mediated signal transduction	cytoplasm|filopodium|nucleus|plasma membrane	GTP binding|GTPase activity|alpha-tubulin binding			endometrium(1)|ovary(1)|skin(1)|urinary_tract(1)	4		Breast(86;0.000596)|Renal(207;0.00339)|all_lung(227;0.00354)|all_hematologic(139;0.0494)|Lung NSC(271;0.0496)|Lung SC(224;0.164)|all_neural(83;0.173)		Epithelial(121;2.6e-19)|BRCA - Breast invasive adenocarcinoma(100;0.000296)|Lung(119;0.002)|LUSC - Lung squamous cell carcinoma(224;0.0048)		TTGGCCTCCTCCAGCCGGTCC	0.657000														25			10		0	0	0.000978159	0	0
CSGALNACT1	55790	broad.mit.edu	37	8	19276183	19276183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:19276183G>A	uc011kyn.2	-	7	2275	c.1211C>T	c.(1210-1212)cCc>cTc	p.P404L	CSGALNACT1_uc011kyo.2_Missense_Mutation_p.P404L|CSGALNACT1_uc003wzg.3_Non-coding_Transcript|CSGALNACT1_uc011kyp.2_Missense_Mutation_p.P404L	NM_001130518	NP_060841	Q8TDX6	CGAT1_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 1 (CSGALNACT1), transcript variant 1, mRNA.	404					UDP-N-acetylgalactosamine metabolic process|UDP-glucuronate metabolic process|anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CTGTTCCAAGGGAGGGACTGC	0.463000														23			8		0	0	0.000274275	0	0
POU6F2	11281	broad.mit.edu	37	7	39247115	39247115	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:39247115G>A	uc003thb.2	+	4	550	c.407G>A	c.(406-408)gGa>gAa	p.G136E	POU6F2_uc022acb.1_Missense_Mutation_p.G136E|POU6F2_uc010kxo.3_Missense_Mutation_p.G128E	NM_007252	NP_009183	P78424	PO6F2_HUMAN	Homo sapiens POU class 6 homeobox 2 (POU6F2), transcript variant 1, mRNA.	136					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GGCCAGCAAGGACTGGTTCTC	0.597000														55			8		0	0	0.000157383	0	0
NLRP10	338322	broad.mit.edu	37	11	7981217	7981217	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:7981217C>T	uc001mfv.1	-	1	1959	c.1942G>A	c.(1942-1944)Gaa>Aaa	p.E648K		NM_176821	NP_789791	Q86W26	NAL10_HUMAN	Homo sapiens NLR family, pyrin domain containing 10 (NLRP10), mRNA.	648							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)		TTTGGTGTTTCCTCTGTCCCT	0.378000														43			13		0	0	0.00244969	0	0
ALMS1	7840	broad.mit.edu	37	2	73677009	73677009	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:73677009G>A	uc002sje.1	+	7	3463	c.3352G>A	c.(3352-3354)Gag>Aag	p.E1118K	ALMS1_uc002sjf.1_Missense_Mutation_p.E1076K|ALMS1_uc002sjg.3_Missense_Mutation_p.E506K|ALMS1_uc002sjh.1_Missense_Mutation_p.E506K	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1118	34 X 47 AA approximate tandem repeat.				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						TCTGCCTAAAGAGGCTCTGAA	0.468000														49			10		0	0	0.000978159	0	0
TTC39C	125488	broad.mit.edu	37	18	21649137	21649137	+	Missense_Mutation	SNP	C	T	T	rs146129310		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:21649137C>T	uc002kuw.3	+	3	814	c.362C>T	c.(361-363)tCc>tTc	p.S121F	TTC39C_uc002kuu.3_Missense_Mutation_p.S60F	NM_001135993	NP_694943	Q8N584	TT39C_HUMAN	Homo sapiens tetratricopeptide repeat domain 39C (TTC39C), transcript variant 1, mRNA.	121							binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						GTCCGAAAATCCGCCCCCTCT	0.438000														76			12		0	0	0.00244969	0	0
SLC4A4	8671	broad.mit.edu	37	4	72338444	72338444	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:72338444C>T	uc010iic.3	+	13	1777	c.1660C>T	c.(1660-1662)Cgc>Tgc	p.R554C	SLC4A4_uc003hfy.3_Missense_Mutation_p.R554C|SLC4A4_uc010iib.3_Missense_Mutation_p.R554C|SLC4A4_uc003hfz.3_Missense_Mutation_p.R554C|SLC4A4_uc003hgc.4_Missense_Mutation_p.R510C|SLC4A4_uc010iid.3_Intron|SLC4A4_uc003hga.2_Missense_Mutation_p.R432C|SLC4A4_uc003hgb.3_Missense_Mutation_p.R510C	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	554			R -> H (in pRTA-OA; mistargeting and altered function).			basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTTGGAGTTTCGCCTTTGGAT	0.408000														63			10		0	0	0.000978159	0	0
LOC392232	392232	broad.mit.edu	37	8	73142675	73142675	+	RNA	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:73142675C>T	uc022avu.1	-	7		c.957G>A								Homo sapiens transient receptor potential cation channel, subfamily A, member 1 pseudogene (LOC392232), non-coding RNA.																		TGTCTTCATCCATTACCAGCT	0.378000														30			15		0	0	0.000586117	0	0
OR2T33	391195	broad.mit.edu	37	1	248436382	248436382	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248436382C>T	uc010pzi.2	-	0	735	c.735G>A	c.(733-735)gtG>gtA	p.V245V		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|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;0.0245)			AGAGTCCCACCACAGCCACAT	0.498000														46			6		0	0	0.00198382	0	0
ZNF594	84622	broad.mit.edu	37	17	5086753	5086753	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:5086753A>C	uc010cla.1	-	1	955	c.799T>G	c.(799-801)Tat>Gat	p.Y267D	ZNF594_uc021tol.1_Missense_Mutation_p.Y267D	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	Homo sapiens zinc finger protein 594 (ZNF594), mRNA.	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TAACATTCATAGGGTTTCTCT	0.408000														17			45		0	0	0.000680045	0	0
CWH43	80157	broad.mit.edu	37	4	49052849	49052849	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:49052849A>T	uc003gyv.3	+	14	2186	c.2004A>T	c.(2002-2004)aaA>aaT	p.K668N	CWH43_uc011bzl.2_Missense_Mutation_p.K641N	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	668					GPI anchor biosynthetic process	integral to membrane		p.K668T(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTTCTGAGAAAATTCATTTTA	0.388000														18			5		0	0	0.00116845	0	0
TMEM2	23670	broad.mit.edu	37	9	74359987	74359987	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:74359987G>A	uc011lsa.1	-	3	1521	c.981C>T	c.(979-981)atC>atT	p.I327I	TMEM2_uc010mos.2_Silent_p.I327I|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	327						integral to membrane		p.T326T(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GGATCATCTGGATGGTTCCTT	0.522000														43			10		0	0	0.000978159	0	0
PPM1A	5494	broad.mit.edu	37	14	60752381	60752381	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:60752381C>T	uc001xew.4	+	2	1189	c.1093C>T	c.(1093-1095)Cca>Tca	p.P365S	PPM1A_uc010apn.3_Missense_Mutation_p.P292S|PPM1A_uc001xex.4_Missense_Mutation_p.P292S|PPM1A_uc001xey.4_Missense_Mutation_p.P292S	NM_177952	NP_808821	P35813	PPM1A_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1A (PPM1A), transcript variant 3, mRNA.	292					Wnt receptor signaling pathway|cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein dephosphorylation	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		GATCTGTTTTCCAAATGCACC	0.383000														32			7		0	0	0.000274275	0	0
USP29	57663	broad.mit.edu	37	19	57640177	57640177	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:57640177G>A	uc002qny.3	+	3	490	c.134G>A	c.(133-135)gGa>gAa	p.G45E	USP29_uc021vci.1_Missense_Mutation_p.G45E	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	45					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TTCAAATCTGGAAAATTTATA	0.358000														42			6		0	0	0.00198382	0	0
ATP5B	506	broad.mit.edu	37	12	57038721	57038721	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:57038721G>A	uc001slr.3	-	2	434	c.329C>T	c.(328-330)aCt>aTt	p.T110I	SNORD59B_uc001sls.1_5'Flank	NM_001686	NP_001677	P06576	ATPB_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide (ATP5B), nuclear gene encoding mitochondrial protein, mRNA.	110					ATP hydrolysis coupled proton transport|angiogenesis|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|MHC class I protein binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CATAGCAATAGTCCTTACTGT	0.443000														67			56		0	0	0.000781405	0	0
OR2L1P	26247	broad.mit.edu	37	1	248153845	248153845	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248153845C>T	uc001idv.1	+	0	277	c.33C>T	c.(31-33)tcC>tcT	p.S11S	OR2L13_uc001ids.3_Intron					Homo sapiens olfactory receptor, family 2, subfamily L, member 1 pseudogene (OR2L1P), non-coding RNA.											lung(11)	11						AGTCTATCTCCTTCACTGGGT	0.413000														51			27		0	0	0.00127121	0	0
CTAGE1	64693	broad.mit.edu	37	18	19996547	19996547	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:19996547C>T	uc002ktv.1	-	0	1332	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	410						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TTCTCAAATTCTTTAAGATCT	0.388000														213			31		0	0	0.0024448	0	0
DSPP	1834	broad.mit.edu	37	4	88533671	88533671	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:88533671G>A	uc003hqu.3	+	3	453	c.333G>A	c.(331-333)ggG>ggA	p.G111G		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	111					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GCTGGAATGGGGACACAGGAA	0.438000														15			5		0	0	0.000602214	0	0
SART1	9092	broad.mit.edu	37	11	65729299	65729299	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:65729299G>A	uc001ogl.3	+	0	140	c.48G>A	c.(46-48)acG>acA	p.T16T	SART1_uc009yqy.1_Silent_p.T16T|SART1_uc010rot.1_5'UTR	NM_005146	NP_005137	O43290	SNUT1_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells (SART1), mRNA.	16					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						cggccgggacgacggcggcgg	0.697000														13			6		0	0	0.00198382	0	0
SV2A	9900	broad.mit.edu	37	1	149882138	149882139	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:149882138_149882139GG>AA	uc001etg.3	-	4	1563_1564	c.1072_1073CC>TT	c.(1072-1074)ccc>TTc	p.P358F	SV2A_uc001eth.2_Missense_Mutation_p.P358F	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	358					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GAAGAAACGGGGGCTCTCAGGC	0.619000														6			3		0	0	6.4e-05	0	0
THRB	7068	broad.mit.edu	37	3	24185123	24185123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:24185123C>T	uc003ccz.4	-	8	1127	c.607G>A	c.(607-609)Gag>Aag	p.E203K	THRB_uc010hfe.3_Missense_Mutation_p.E203K|THRB_uc003ccy.4_Missense_Mutation_p.E203K|THRB_uc003ccx.4_Missense_Mutation_p.E203K	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	203					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	TTCTGCAGCTCTTCCCGCCGT	0.577000														38			13		0	0	0.00244969	0	0
TRPM8	79054	broad.mit.edu	37	2	234869676	234869676	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:234869676G>A	uc002vvh.3	+	11	1659	c.1619G>A	c.(1618-1620)aGa>aAa	p.R540K	TRPM8_uc010fyj.3_Missense_Mutation_p.R228K	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	540						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	AAGGAAGACAGAAATGGCCGG	0.493000														15			4		0	0	0.000602214	0	0
ATP1A2	477	broad.mit.edu	37	1	160093111	160093111	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:160093111G>A	uc001fvc.3	+	3	418	c.286G>A	c.(286-288)Ggg>Agg	p.G96R	ATP1A2_uc001fvb.2_Missense_Mutation_p.G96R|ATP1A2_uc010piz.1_5'Flank	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	96					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCAGCTTTTCGGGGGGTTCTC	0.602000														93			17		0	0	0.00152264	0	0
WWC1	23286	broad.mit.edu	37	5	167881016	167881016	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:167881016G>A	uc003lzu.3	+	17	2662	c.2569G>A	c.(2569-2571)Gag>Aag	p.E857K	WWC1_uc003lzv.3_Missense_Mutation_p.E857K|WWC1_uc011den.2_Missense_Mutation_p.E857K|WWC1_uc003lzw.3_Missense_Mutation_p.E656K|WWC1_uc010jjf.1_Missense_Mutation_p.E129K	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	857	Glu-rich.|Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		AGCCgaggaagaggaggagga	0.542000														27			7		0	0	0.000442599	0	0
CANT1	124583	broad.mit.edu	37	17	76993341	76993341	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:76993341C>T	uc002jwj.3	-	1	859	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	CANT1_uc002jwn.3_Missense_Mutation_p.E122K|CANT1_uc002jwk.3_Missense_Mutation_p.E122K|CANT1_uc002jwl.2_Non-coding_Transcript	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.	122					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi cisterna membrane|endoplasmic reticulum membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			CAGGTGTTTTCCTCTTGGGCC	0.562000			T	ETV4	prostate									118			59		0	0	0.000781405	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140174570	140174570	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140174570G>A	uc003lhd.2	+	0	127	c.21G>A	c.(19-21)agG>agA	p.R7R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.R7R|PCDHAC2_uc011czy.2_Silent_p.R7R	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	0					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)			CTATCAGAAGGGGCCGAGGGG	0.522000														41			23		0	0	0.000878237	0	0
PGLYRP4	57115	broad.mit.edu	37	1	153318593	153318594	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:153318593_153318594GG>TT	uc001fbo.3	-	2	188_189	c.123_124CC>AA	c.(121-126)tcccag>tcAAag	p.Q42K	PGLYRP4_uc001fbp.3_Missense_Mutation_p.Q42K	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	42					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCAGTGAGCTGGGAGATGTTCT	0.455000														171			8		0	0	6.4e-05	0	0
FBXL18	80028	broad.mit.edu	37	7	5540754	5540754	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:5540754G>A	uc003soo.2	-	2	1240	c.1146C>T	c.(1144-1146)tgC>tgT	p.C382C	FBXL18_uc003son.4_Silent_p.C382C	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	382									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCAGGTTGCAGCAGGACGCCA	0.697000														34			5		0	0	0.00198382	0	0
NCOA5	57727	broad.mit.edu	37	20	44692186	44692186	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:44692186G>A	uc002xrd.3	-	5	1491	c.963C>T	c.(961-963)atC>atT	p.I321I	NCOA5_uc002xrc.3_Silent_p.I209I|NCOA5_uc002xre.3_Silent_p.I321I	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TTTCCTGCAGGATGGCTTCAT	0.582000														26			6		0	0	0.00198382	0	0
ODZ1	10178	broad.mit.edu	37	X	123839007	123839007	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:123839007G>A	uc010nqy.3	-	4	935	c.871C>T	c.(871-873)Cct>Tct	p.P291S	ODZ1_uc011muj.2_Missense_Mutation_p.P291S|ODZ1_uc004euj.3_Missense_Mutation_p.P291S	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	291	Teneurin N-terminal.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.S291S(1)		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						GGCCTGGGAGGGGGCGAGTAC	0.527000														45			10		0	0	0.000673444	0	0
SPRR2G	6706	broad.mit.edu	37	1	153122501	153122501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:153122501G>A	uc021ozu.1	-	0	86	c.86C>T	c.(85-87)cCc>cTc	p.P29L	SPRR2G_uc009wod.2_Missense_Mutation_p.P29L	NM_001014291	NP_001014313	Q9BYE4	SPR2G_HUMAN	Homo sapiens small proline-rich protein 2G (SPRR2G), mRNA.	29	3 X 9 AA approximate tandem repeats.				keratinization	cornified envelope|cytoplasm		p.P28S(1)		endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCACTTCGGGGGTGGACATGG	0.602000														44			16		0	0	0.000958276	0	0
DDI1	414301	broad.mit.edu	37	11	103908641	103908641	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:103908641G>A	uc001phr.2	+	0	1334	c.1091G>A	c.(1090-1092)gGa>gAa	p.G364E	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	364					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CTTCCTGAGGGAGAGTTGCCC	0.458000														70			12		0	0	0.000978159	0	0
KNDC1	85442	broad.mit.edu	37	10	135038169	135038169	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:135038169C>T	uc001llz.1	+	29	5026	c.5025C>T	c.(5023-5025)atC>atT	p.I1675I		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1675	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GAAGGAACATCGCAAAGGTGG	0.592000														10			6		0	0	0.000157383	0	0
LY6G6F	259215	broad.mit.edu	37	6	31675736	31675736	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31675736G>A	uc003nwb.1	+	2	471	c.471G>A	c.(469-471)gtG>gtA	p.V157V	ABHD16A_uc011dnz.2_Intron|LY6G6F_uc003nwa.1_Silent_p.V157V	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6F (LY6G6F), mRNA.	157						integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						TGGACTCTGTGACCTGGCAGG	0.617000														189			73		0	0	0.000781405	0	0
BBX	56987	broad.mit.edu	37	3	107497265	107497265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:107497265C>T	uc010hpr.3	+	12	2429	c.2102C>T	c.(2101-2103)cCt>cTt	p.P701L	BBX_uc003dwk.4_Missense_Mutation_p.P701L|BBX_uc003dwl.4_Missense_Mutation_p.L365F|BBX_uc003dwm.4_Missense_Mutation_p.P701L|BBX_uc003dwo.4_Missense_Mutation_p.L51F	NM_001142568	NP_001136040	Q8WY36	BBX_HUMAN	Homo sapiens bobby sox homolog (Drosophila) (BBX), transcript variant 1, mRNA.	701	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.P701S(1)		breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			AACAGCCTCCCTCAATATAGT	0.408000														32			6		0	0	0.00116845	0	0
UGT1A1	54658	broad.mit.edu	37	2	234545613	234545613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:234545613C>T	uc002vur.3	+	0	491	c.445C>T	c.(445-447)Cct>Tct	p.P149S	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Missense_Mutation_p.P149S	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	152					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)	GTTTCTGGATCCTTTTGATAC	0.383000														52			42		0	0	0.00195071	0	0
CSMD1	64478	broad.mit.edu	37	8	3216752	3216752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:3216752G>A	uc022aqr.1	-	20	3616	c.3226C>T	c.(3226-3228)Cgt>Tgt	p.R1076C	CSMD1_uc011kwj.2_Missense_Mutation_p.R469C|CSMD1_uc003wqe.3_Missense_Mutation_p.R233C	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1077	Sushi 6.					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)		CCTTCTAAACGATATCCCAGG	0.557000														48			9		0	0	0.000673444	0	0
ARSG	22901	broad.mit.edu	37	17	66339817	66339817	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:66339817C>T	uc002jhc.2	+	2	1087	c.291C>T	c.(289-291)ggC>ggT	p.G97G		NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Homo sapiens arylsulfatase G (ARSG), mRNA.	97					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCCGGCTTGGCCTTCGCAATG	0.612000														29			10		0	0	0.000442599	0	0
SULF1	23213	broad.mit.edu	37	8	70498601	70498601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:70498601G>A	uc003xyg.2	+	5	983	c.422G>A	c.(421-423)gGa>gAa	p.G141E	SULF1_uc010lza.1_Missense_Mutation_p.G141E|SULF1_uc003xyd.2_Missense_Mutation_p.G141E|SULF1_uc003xye.2_Missense_Mutation_p.G141E|SULF1_uc003xyf.2_Missense_Mutation_p.G141E	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	141					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	Golgi stack|cell surface|endoplasmic reticulum|extracellular space	arylsulfatase activity|calcium ion binding	p.G141V(2)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GCCTTTTTTGGAAAATACCTC	0.328000														77			6		0	0	0.00116845	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963788	73963788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:73963788C>T	uc004eby.3	-	2	1221	c.604G>A	c.(604-606)Gac>Aac	p.D202N		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	202					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						AGGAGCTGGTCTGAGAGCAGC	0.453000														18			10		0	0	0.000442599	0	0
GABRE	2564	broad.mit.edu	37	X	151131032	151131032	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:151131032C>T	uc004ffi.3	-	3	480	c.426G>A	c.(424-426)ctG>ctA	p.L142L	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript|MIR452_uc022cgx.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	142					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CATTGCCATTCAGAACAAGAG	0.502000														45			14		0	0	0.000422831	0	0
SYCP2L	221711	broad.mit.edu	37	6	10931690	10931690	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:10931690C>T	uc003mzo.3	+	19	1947	c.1651C>T	c.(1651-1653)Ccc>Tcc	p.P551S	SYCP2L_uc010jow.3_Missense_Mutation_p.P171S	NM_001040274	NP_001035364	Q5T4T6	SYC2L_HUMAN	Homo sapiens synaptonemal complex protein 2-like (SYCP2L), mRNA.	551						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			AGTTTTCCCTCCCAGTAGTGG	0.398000														122			9		0	0	0.000978159	0	0
WDR3	10885	broad.mit.edu	37	1	118481118	118481118	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:118481118G>T	uc010oxe.1	+	4	582	c.516G>T	c.(514-516)atG>atT	p.M172I	WDR3_uc001ehi.2_Intron|WDR3_uc001ehh.2_Missense_Mutation_p.M1I	NM_006784	NP_006775	Q9UNX4	WDR3_HUMAN	Homo sapiens WD repeat domain 3 (WDR3), mRNA.	172						nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		AAGATACCATGGTGAAATGGT	0.428000														47			7		0.000157383	0.000527973	0.000157383	1	0
CAMK4	814	broad.mit.edu	37	5	110820045	110820045	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:110820045G>A	uc003kpf.3	+	10	1538	c.1303G>A	c.(1303-1305)Ggc>Agc	p.G435S	CAMK4_uc010jbv.3_Missense_Mutation_p.G238S|CAMK4_uc003kpg.3_Missense_Mutation_p.G126S	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	435					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)		ACTAGAGGAGGGCCTAGCAGA	0.527000														20			6		0	0	0.00116845	0	0
LPHN2	23266	broad.mit.edu	37	1	82302695	82302695	+	Missense_Mutation	SNP	G	A	A	rs138982442	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:82302695G>A	uc001dit.4	+	2	207	c.26G>A	c.(25-27)cGa>cAa	p.R9Q	LPHN2_uc001dis.3_Missense_Mutation_p.R9Q|LPHN2_uc001diu.3_Missense_Mutation_p.R9Q|LPHN2_uc001div.3_Missense_Mutation_p.R9Q|LPHN2_uc009wcd.3_Missense_Mutation_p.R9Q	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	9					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TGCAGAATGCGAAGTCTGTGG	0.333000														37			6		0	0	0.000157383	0	0
CCDC11	220136	broad.mit.edu	37	18	47777208	47777208	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:47777208C>T	uc002lee.2	-	4	1007	c.916G>A	c.(916-918)Gaa>Aaa	p.E306K		NM_145020	NP_659457	Q96M91	CCD11_HUMAN	Homo sapiens coiled-coil domain containing 11 (CCDC11), mRNA.	306								p.E306*(2)		endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		AAGTCCTGTTCGTCTCTGTAT	0.408000														247			46		0	0	0.000781405	0	0
CMTM1	113540	broad.mit.edu	37	16	66592128	66592128	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:66592128C>T	uc021tjt.1	+	1	267	c.114C>T	c.(112-114)atC>atT	p.I38I	CMTM1_uc002eow.3_Silent_p.I38I|CMTM1_uc002eox.2_Silent_p.I38I|CMTM1_uc002eou.3_Intron|CMTM1_uc002eot.3_Silent_p.I38I|CMTM1_uc002eov.3_Intron|CMTM1_uc021tjs.1_Intron|CMTM1_uc021tju.1_Intron	NM_001204099	NP_001191028	Q8IZ96	CKLF1_HUMAN	Homo sapiens CKLF-CMTM1 readthrough (CKLF-CMTM1), transcript variant 1, mRNA.	39	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		TTTTTATCATCGCACAAGCCC	0.323000														146			53		0	0	0.000781405	0	0
CECR1	51816	broad.mit.edu	37	22	17669312	17669312	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:17669312G>A	uc002zmk.1	-	5	1210	c.998C>T	c.(997-999)tCc>tTc	p.S333F	CECR1_uc010gqu.1_Missense_Mutation_p.S333F|CECR1_uc011agi.1_Missense_Mutation_p.S291F|CECR1_uc002zmj.1_Missense_Mutation_p.S92F	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 1 (CECR1), transcript variant 1, mRNA.	333					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	Golgi apparatus|extracellular space	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				GTCATGCAAGGAGTGGCCAGT	0.612000														39			9		0	0	0.000978159	0	0
ATP13A4	84239	broad.mit.edu	37	3	193201782	193201782	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:193201782G>A	uc003ftd.3	-	7	859	c.751C>T	c.(751-753)Ctc>Ttc	p.L251F	ATP13A4_uc003fte.1_Missense_Mutation_p.L251F|ATP13A4_uc011bsr.1_5'UTR	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	251					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.L251L(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)		AGATGGTGGAGTTTTACAGAT	0.343000														127			29		0	0	0.0024448	0	0
BCLAF1	9774	broad.mit.edu	37	6	136597560	136597560	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:136597560T>A	uc003qgx.1	-	4	1356	c.1103A>T	c.(1102-1104)aAa>aTa	p.K368I	BCLAF1_uc003qgy.1_Missense_Mutation_p.K366I|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.K366I|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	368					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGCCCTCCCTTTCTCTGATCC	0.423000														65			10		0	0	0.000978159	0	0
THOC5	8563	broad.mit.edu	37	22	29927911	29927911	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:29927911G>A	uc003afr.3	-	8	1091	c.756C>T	c.(754-756)gaC>gaT	p.D252D	THOC5_uc003afs.3_Silent_p.D252D|THOC5_uc003aft.3_Silent_p.D252D|THOC5_uc003afu.3_Silent_p.D252D|THOC5_uc003afv.1_Silent_p.D252D	NM_001002878	NP_003669	Q13769	THOC5_HUMAN	Homo sapiens THO complex 5 (THOC5), transcript variant 1, mRNA.	252					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing|monocyte differentiation|primitive hemopoiesis	THO complex part of transcription export complex|cytoplasm|intermediate filament cytoskeleton	RNA binding|protein binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTGAGCCTGGTCGAATGGCA	0.522000														26			6		0	0	0.00116845	0	0
SUCNR1	56670	broad.mit.edu	37	3	151599096	151599096	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:151599096G>A	uc003ezf.2	+	2	870	c.765G>A	c.(763-765)agG>agA	p.R255R		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	255						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GGAATGTGAGGATCGCTTCAC	0.498000														56			10		0	0	0.000978159	0	0
TINAG	27283	broad.mit.edu	37	6	54185388	54185388	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:54185388G>A	uc003pcj.2	+	1	513	c.367G>A	c.(367-369)Gat>Aat	p.D123N	TINAG_uc003pci.3_Missense_Mutation_p.D123N|TINAG_uc010jzt.2_Intron	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	123					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTGCTTCAAAGATGGTCAACA	0.313000														117			16		0	0	0.00152264	0	0
CD96	10225	broad.mit.edu	37	3	111286448	111286448	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:111286448A>T	uc003dxw.3	+	2	667	c.497A>T	c.(496-498)aAt>aTt	p.N166I	CD96_uc003dxv.3_Missense_Mutation_p.N166I|CD96_uc003dxx.3_Missense_Mutation_p.N166I|CD96_uc010hpy.1_Missense_Mutation_p.N166I	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	166	Ig-like V-type 2.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TGCTTTCAAAATAGCTCCTCA	0.368000									Opitz Trigonocephaly syndrome					34			9		0	0	0.000442599	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800767	185800767	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:185800767C>T	uc002uph.3	+	3	1238	c.644C>T	c.(643-645)tCt>tTt	p.S215F		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	215						intracellular	zinc ion binding	p.S215S(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATCGGCTTTTCTTTTGCATTT	0.433000														55			10		0	0	0.000673444	0	0
BSN	8927	broad.mit.edu	37	3	49699446	49699446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:49699446C>T	uc003cxe.4	+	5	10282	c.10168C>T	c.(10168-10170)Cca>Tca	p.P3390S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3390					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GTCCTACCCCCCACCTGCAGT	0.537000														45			13		0	0	0.00136819	0	0
SELE	6401	broad.mit.edu	37	1	169698418	169698418	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:169698418G>A	uc001ggm.4	-	6	1156	c.999C>T	c.(997-999)ttC>ttT	p.F333F	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	333	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CCTCACAGGTGAAGTTGCAGG	0.552000														22			6		0	0	0.00116845	0	0
HTR7	3363	broad.mit.edu	37	10	92509192	92509192	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:92509192G>A	uc001kha.3	-	1	942	c.699C>T	c.(697-699)atC>atT	p.I233I	HTR7_uc001kgz.3_Silent_p.I233I|HTR7_uc001khb.3_Silent_p.I233I	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	233					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	AGTCCTGGCTGATCAAGCACA	0.468000														23			7		0	0	0.00198382	0	0
GIMAP6	474344	broad.mit.edu	37	7	150325013	150325013	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:150325013C>T	uc022apv.1	-	2	1363	c.883G>A	c.(883-885)Gaa>Aaa	p.E295K	GIMAP6_uc003whn.3_Missense_Mutation_p.E225K|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	225							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTTCGTTTTCCCACATAATG	0.517000														151			14		0	0	0.000422831	0	0
GRM7	2917	broad.mit.edu	37	3	7348259	7348259	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:7348259C>T	uc003bqm.2	+	3	1227	c.953C>T	c.(952-954)tCc>tTc	p.S318F	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.S318F|GRM7_uc003bql.2_Missense_Mutation_p.S318F|GRM7_uc003bqn.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	318					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGCTGGGGATCCAAAATAAAC	0.498000														36			8		0	0	0.000157383	0	0
DNAJC10	54431	broad.mit.edu	37	2	183624032	183624032	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:183624032A>T	uc002uow.1	+	20	2558	c.2143A>T	c.(2143-2145)Agg>Tgg	p.R715W	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Missense_Mutation_p.R669W|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	715	Thioredoxin 4.				ER-associated protein catabolic process|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GCTCTTGGCTAGGGTAAGTCA	0.333000														59			10		0	0	0.00244969	0	0
PYHIN1	149628	broad.mit.edu	37	1	158914788	158914788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158914788C>T	uc001ftb.3	+	6	1565	c.1315C>T	c.(1315-1317)Cct>Tct	p.P439S	PYHIN1_uc001ftc.3_Missense_Mutation_p.P430S|PYHIN1_uc001ftd.3_Missense_Mutation_p.P439S|PYHIN1_uc001fte.3_Missense_Mutation_p.P430S	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	439					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TCTCAAGACTCCTCAGATGCC	0.493000														72			9		0	0	0.000673444	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140712330	140712330	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140712330G>A	uc003lji.2	+	0	2079	c.2079G>A	c.(2077-2079)ctG>ctA	p.L693L	PCDHGC5_uc011dan.2_Silent_p.L693L	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	694					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)			CTCTGTACCTGGTGGTGGCGG	0.672000														60			14		0	0	0.00121646	0	0
OR11H4	390442	broad.mit.edu	37	14	20711637	20711637	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:20711637C>T	uc010tld.2	+	0	687	c.687C>T	c.(685-687)atC>atT	p.I229I		NM_001004479	NP_001004479	Q8NGC9	O11H4_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 4 (OR11H4), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		GATCCTATATCCTGTTACTAA	0.433000														73			22		0	0	0.00229938	0	0
CPNE4	131034	broad.mit.edu	37	3	131388553	131388553	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:131388553G>A	uc011blq.2	-	6	811	c.701C>T	c.(700-702)tCt>tTt	p.S234F	CPNE4_uc003eok.3_Missense_Mutation_p.S216F|CPNE4_uc003eol.3_Missense_Mutation_p.S234F|CPNE4_uc003eom.3_Missense_Mutation_p.S216F	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	216	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GCTGCATAGAGAATTTACAGA	0.403000														71			15		0	0	0.00074312	0	0
ULK4	54986	broad.mit.edu	37	3	41942229	41942229	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:41942229G>A	uc003ckv.4	-	12	1476	c.1275C>T	c.(1273-1275)atC>atT	p.I425I	ULK4_uc003ckw.2_Silent_p.I425I|ULK4_uc003ckx.1_Silent_p.I425I	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	425							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		TTGGATTGTCGATAATGGGGG	0.413000														160			38		0	0	0.00195071	0	0
LAMA2	3908	broad.mit.edu	37	6	129637182	129637182	+	Splice_Site	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:129637182G>A	uc021zfb.1	+	27	4030	c.3925_splice	c.e27-1	p.K1309_splice	LAMA2_uc003qbn.3_Splice_Site_p.K1309_splice|LAMA2_uc003qbo.3_Splice_Site_p.K1309_splice	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1309	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTTGTTAACAGAAAGAATGGA	0.343000														33			18		0	0	0.00074312	0	0
GPR111	222611	broad.mit.edu	37	6	47649301	47649301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:47649301C>T	uc010jzj.1	+	5	1007	c.1006C>T	c.(1006-1008)Cct>Tct	p.P336S	GPR111_uc003oyy.3_Missense_Mutation_p.P268S	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	336					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GGTGCCTTCCCCTTCTCAGGT	0.418000														102			19		0	0	0.00152264	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27997684	27997684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:27997684C>T	uc004dbx.1	-	0	1883	c.1768G>A	c.(1768-1770)Gag>Aag	p.E590K		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	590										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TCTTGGCCCTCCTCCTCGGAT	0.498000														29			6		0	0	0.00116845	0	0
FAM26E	254228	broad.mit.edu	37	6	116836826	116836826	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:116836826C>T	uc003pwy.3	+	1	656	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	BET3L_uc011ebh.2_Intron	NM_153711	NP_714922	Q8N5C1	FA26E_HUMAN	Homo sapiens family with sequence similarity 26, member E (FAM26E), mRNA.	202						integral to membrane		p.R202C(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		ATGTTATGCTCGCTGCCGATC	0.413000														35			12		0	0	0.00185496	0	0
ADAM12	8038	broad.mit.edu	37	10	127787064	127787064	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:127787064A>G	uc001ljk.2	-	9	1339	c.926T>C	c.(925-927)gTt>gCt	p.V309A	ADAM12_uc010qul.1_Missense_Mutation_p.V260A|ADAM12_uc001ljm.3_Missense_Mutation_p.V309A|ADAM12_uc001ljn.3_Missense_Mutation_p.V306A|ADAM12_uc001ljl.4_Missense_Mutation_p.V306A	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	309	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	SH3 domain binding|metalloendopeptidase activity|protein binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		TTGGAAATAAACCCCACTAGG	0.433000														39			16		0	0	0.00074312	0	0
XAB2	56949	broad.mit.edu	37	19	7689244	7689244	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:7689244C>T	uc002mgx.3	-	6	936	c.910G>A	c.(910-912)Gag>Aag	p.E304K		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	304					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						ATCATGCTCTCCTCGAACTGG	0.652000								Direct reversal of damage;Nucleotide excision repair (NER)						39			7		0	0	0.000157383	0	0
POP1	10940	broad.mit.edu	37	8	99148749	99148749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:99148749G>A	uc003yij.4	+	7	1151	c.1051G>A	c.(1051-1053)Gaa>Aaa	p.E351K	POP1_uc011lgv.2_Missense_Mutation_p.E351K|POP1_uc003yik.3_Missense_Mutation_p.E351K	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	351					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			CCAGTGTGTGGAACCCATCAA	0.358000														155			19		0	0	0.00047179	0	0
UBE3C	9690	broad.mit.edu	37	7	156963047	156963048	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:156963047_156963048CC>TT	uc010lqs.3	+	3	557_558	c.245_246CC>TT	c.(244-246)tcc>tTT	p.S82F	UBE3C_uc003wnf.2_Missense_Mutation_p.S39F|UBE3C_uc003wng.2_Missense_Mutation_p.S82F	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	82					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TTGTCACAGTCCGGGGGCGCTT	0.411000														179			22		0	0	6.4e-05	0	0
LAMA2	3908	broad.mit.edu	37	6	129636758	129636758	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:129636758A>T	uc021zfb.1	+	24	3798	c.3693A>T	c.(3691-3693)gaA>gaT	p.E1231D	LAMA2_uc003qbn.3_Missense_Mutation_p.E1231D|LAMA2_uc003qbo.3_Missense_Mutation_p.E1231D	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1231	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCCATTTGGAACCTTTTTATT	0.393000														45			14		0	0	0.000422831	0	0
ZNF585B	92285	broad.mit.edu	37	19	37677885	37677885	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:37677885G>A	uc002ofq.3	-	4	806	c.554C>T	c.(553-555)cCc>cTc	p.P185L	ZNF585B_uc002ofr.1_Intron	NM_152279	NP_689492	Q52M93	Z585B_HUMAN	Homo sapiens zinc finger protein 585B (ZNF585B), mRNA.	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCACTTATAGGGCTTCTCTCT	0.378000														57			19		0	0	0.000958276	0	0
KIF19	124602	broad.mit.edu	37	17	72350305	72350305	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:72350305G>A	uc002jkm.4	+	17	2451	c.2313G>A	c.(2311-2313)agG>agA	p.R771R		NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	771					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CTGCAGAGAGGAAGGAGATCC	0.657000														65			14		0	0	0.000958276	0	0
COL12A1	1303	broad.mit.edu	37	6	75801230	75801230	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:75801230C>T	uc021zbv.1	-	59	8696	c.8661G>A	c.(8659-8661)ggG>ggA	p.G2887G	COL12A1_uc021zbw.1_Silent_p.G1723G|COL12A1_uc003phs.3_Silent_p.G2887G|COL12A1_uc003pht.3_Silent_p.G1723G	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2887	Triple-helical region (COL2) with 1 imperfection.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTCCTTTCAACCCAGATGGAC	0.299000														76			22		0	0	0.000720815	0	0
ITGBL1	9358	broad.mit.edu	37	13	102105194	102105194	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:102105194C>T	uc001vpb.3	+	0	229	c.10C>T	c.(10-12)Cca>Tca	p.P4S	ITGBL1_uc010agb.3_Missense_Mutation_p.P4S|ITGBL1_uc001vpc.4_5'UTR	NM_004791	NP_004782	O95965	ITGBL_HUMAN	Homo sapiens integrin, beta-like 1 (with EGF-like repeat domains) (ITGBL1), mRNA.	4					cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CATGCGTCCCCCAGGCTTCAG	0.607000														21			14		0	0	0.000566183	0	0
AK094599	0	broad.mit.edu	37	2	133066873	133066873	+	RNA	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:133066873G>A	uc002ttk.1	+	1		c.72G>A								Homo sapiens cDNA FLJ37280 fis, clone BRAMY2012881.																		TTTCCAAAAGGAAGACGGTAT	0.378000														117			8		0	0	0.00136819	0	0
E2F8	79733	broad.mit.edu	37	11	19256297	19256297	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:19256297G>A	uc001mpm.3	-	4	1282	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	E2F8_uc009yhv.3_Non-coding_Transcript|E2F8_uc001mpn.4_Missense_Mutation_p.R254W	NM_024680	NP_078956	A0AVK6	E2F8_HUMAN	Homo sapiens E2F transcription factor 8 (E2F8), transcript variant 1, mRNA.	254					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.F253L(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCACCTGCCCGAAATTCCACT	0.453000														36			21		0	0	0.00278032	0	0
PPP1R16A	84988	broad.mit.edu	37	8	145725921	145725921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:145725921G>A	uc003zdd.3	+	6	1670	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	AK094577_uc003zde.1_5'Flank|PPP1R16A_uc003zdf.3_Missense_Mutation_p.E253K	NM_032902	NP_116291	Q96I34	PP16A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16A (PPP1R16A), mRNA.	253						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCTGCTGCTGGAACACCGAGC	0.711000														12			7		0	0	0.000274275	0	0
MRI1	84245	broad.mit.edu	37	19	13883066	13883066	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:13883066G>A	uc002mxe.3	+	5	1147	c.1081G>A	c.(1081-1083)Gat>Aat	p.D361N	MRI1_uc002mxf.3_Missense_Mutation_p.D314N|C19orf53_uc002mxg.3_5'Flank	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN	Homo sapiens methylthioribose-1-phosphate isomerase homolog (S. cerevisiae) (MRI1), transcript variant 1, mRNA.	361					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	S-methyl-5-thioribose-1-phosphate isomerase activity|identical protein binding			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CTCTTCCAGGGATGGAACCCT	0.542000														12			6		0	0	0.000157383	0	0
ITIH5	80760	broad.mit.edu	37	10	7679266	7679266	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:7679266C>T	uc021pmv.1	-	4	683	c.577G>A	c.(577-579)Gag>Aag	p.E193K	ITIH5_uc001ijr.2_Missense_Mutation_p.E193K	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	193					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CCCGCGCTCTCCAGGATATTC	0.662000														25			11		0	0	0.000978159	0	0
DAB1	1600	broad.mit.edu	37	1	57480958	57480958	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:57480958G>A	uc009vzx.1	-	11	1362	c.1042C>T	c.(1042-1044)Cct>Tct	p.P348S	DAB1_uc001cyt.1_Missense_Mutation_p.P346S|DAB1_uc001cyq.1_Missense_Mutation_p.P346S|DAB1_uc001cyr.1_Missense_Mutation_p.P262S|DAB1_uc009vzw.1_Missense_Mutation_p.P330S|DAB1_uc001cys.1_Missense_Mutation_p.P348S	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	381					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGAGTGGCAGGAAAGAGACCC	0.642000														33			13		0	0	0.00244969	0	0
KBTBD5	131377	broad.mit.edu	37	3	42729765	42729766	+	Silent	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:42729765_42729766CC>TT	uc003clv.1	+	1	1384_1385	c.1284_1285CC>TT	c.(1282-1287)tgcctg>tgTTtg	p.428_429CL>CL		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	428								p.R427C(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GCGAGCGCTGCCTGGACTCGGT	0.663000														17			9		0	0	6.4e-05	0	0
CXCL12	6387	broad.mit.edu	37	10	44876265	44876265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:44876265G>A	uc001jbf.3	-	1	217	c.125C>T	c.(124-126)gCc>gTc	p.A42V	CXCL12_uc001jbh.3_Missense_Mutation_p.A42V|CXCL12_uc021ppm.1_Missense_Mutation_p.A42V|CXCL12_uc001jbi.3_Missense_Mutation_p.A42V	NM_000609	NP_000600	P48061	SDF1_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 12 (CXCL12), transcript variant 2, mRNA.	42					G-protein coupled receptor protein signaling pathway|blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	CTTGACGTTGGCTCTGGCAAC	0.458000														309			11		0	0	0.00244969	0	0
SLC39A10	57181	broad.mit.edu	37	2	196545140	196545140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:196545140C>T	uc002utg.4	+	1	588	c.374C>T	c.(373-375)tCa>tTa	p.S125L	SLC39A10_uc002uth.4_Missense_Mutation_p.S125L|SLC39A10_uc010zgp.2_Intron	NM_001127257	NP_065075	Q9ULF5	S39AA_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 10 (SLC39A10), transcript variant 1, mRNA.	125	His-rich.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			CATTTTCACTCACATAACCAC	0.368000														61			34		0	0	0.00058488	0	0
DYSF	8291	broad.mit.edu	37	2	71871175	71871175	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:71871175G>A	uc010fen.3	+	41	4749	c.4608G>A	c.(4606-4608)aaG>aaA	p.K1536K	DYSF_uc010fei.3_Silent_p.K1514K|DYSF_uc010feh.3_Silent_p.K1504K|DYSF_uc002sig.4_Silent_p.K1483K|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Silent_p.K1528K|DYSF_uc010fee.3_Silent_p.K1518K|DYSF_uc010fef.3_Silent_p.K1535K|DYSF_uc002sie.3_Silent_p.K1497K|DYSF_uc010feo.3_Silent_p.K1529K|DYSF_uc010fej.3_Silent_p.K1505K|DYSF_uc010fel.3_Silent_p.K1484K|DYSF_uc010fem.3_Silent_p.K1519K|DYSF_uc002sif.3_Silent_p.K1498K|DYSF_uc010fek.3_Silent_p.K1515K|DYSF_uc010yqy.2_Silent_p.K378K|DYSF_uc010yqz.2_Silent_p.K258K	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1497						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACCTGGAGAAGGATTTTGACA	0.512000														5			7		0	0	0.000442599	0	0
FAM113B	91523	broad.mit.edu	37	12	47629792	47629792	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:47629792C>T	uc001rpq.3	+	1	1471	c.946C>T	c.(946-948)Ctg>Ttg	p.L316L	FAM113B_uc001rpn.3_Silent_p.L316L|FAM113B_uc021qxi.1_Silent_p.L316L	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	316	Pro-rich.						hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					gctcccgctcctgtccccaca	0.622000														32			8		0	0	0.000157383	0	0
PKHD1	5314	broad.mit.edu	37	6	51907681	51907681	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:51907681C>A	uc003pah.1	-	26	3349	c.3073G>T	c.(3073-3075)Gag>Tag	p.E1025*	PKHD1_uc003pai.3_Nonsense_Mutation_p.E1025*	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1025	IPT/TIG 5.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTGGAAGGCTCCACCATATCC	0.488000														24			14		1.02788e-11	3.4722e-11	0.000566183	1	0
HHLA2	11148	broad.mit.edu	37	3	108074059	108074059	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:108074059G>A	uc003dwz.3	+	4	930	c.516G>A	c.(514-516)tgG>tgA	p.W172*	HHLA2_uc011bhl.2_Nonsense_Mutation_p.W108*|HHLA2_uc010hpu.3_Nonsense_Mutation_p.W172*|HHLA2_uc003dwy.4_Nonsense_Mutation_p.W172*	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	172	Ig-like C1-type.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TTATCACGTGGAAAATGGACA	0.373000														28			5		0	0	0.00198382	0	0
ADAM19	8728	broad.mit.edu	37	5	156921748	156921749	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:156921748_156921749GG>AA	uc003lwz.3	-	14	1728_1729	c.1649_1650CC>TT	c.(1648-1650)acc>aTT	p.T550I	ADAM19_uc003lww.2_Missense_Mutation_p.T283I|ADAM19_uc003lwy.3_Missense_Mutation_p.T149I|ADAM19_uc011ddr.1_Missense_Mutation_p.T481I	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	550	Cys-rich.				proteolysis	integral to membrane	SH3 domain binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGTTTCCAAAGGTGTCTCCTGC	0.510000														65			12		0	0	6.4e-05	0	0
CSMD3	114788	broad.mit.edu	37	8	113326806	113326806	+	Silent	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:113326806T>G	uc003ynu.3	-	47	7560	c.7401A>C	c.(7399-7401)ggA>ggC	p.G2467G	CSMD3_uc003yns.3_Silent_p.G1669G|CSMD3_uc003ynt.3_Silent_p.G2427G|CSMD3_uc011lhx.2_Silent_p.G2363G|CSMD3_uc003ynw.1_Silent_p.G178G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2467	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCAATATGACTCCAGTAGAAT	0.393000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				33			6		0	0	0.00198382	0	0
GIT1	28964	broad.mit.edu	37	17	27909803	27909803	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:27909803G>A	uc002heg.2	-	3	532	c.318C>T	c.(316-318)ttC>ttT	p.F106F	GIT1_uc002hef.2_Silent_p.F106F|GIT1_uc010wbg.1_Silent_p.F106F	NM_001085454	NP_001078923	Q9Y2X7	GIT1_HUMAN	Homo sapiens G protein-coupled receptor kinase interacting ArfGAP 1 (GIT1), transcript variant 1, mRNA.	106	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TGGCCCTGATGAACTCTGACT	0.612000														20			6		0	0	0.00116845	0	0
CSMD3	114788	broad.mit.edu	37	8	113323251	113323251	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:113323251G>A	uc003ynu.3	-	49	8000	c.7841C>T	c.(7840-7842)tCc>tTc	p.S2614F	CSMD3_uc003yns.3_Missense_Mutation_p.S1816F|CSMD3_uc003ynt.3_Missense_Mutation_p.S2574F|CSMD3_uc011lhx.2_Missense_Mutation_p.S2510F|CSMD3_uc003ynw.1_Missense_Mutation_p.S325F	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	2614	Sushi 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATACCCATAGGAAGACTTTCT	0.468000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				37			5		0	0	0.000602214	0	0
SEMA3E	9723	broad.mit.edu	37	7	83032082	83032082	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:83032082G>A	uc003uhy.2	-	9	1630	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	SEMA3E_uc022agy.1_Nonsense_Mutation_p.R277*	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	337	Sema.				axon guidance	extracellular space|membrane	receptor activity	p.R337*(2)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GCATGCCCTCGAAAAATATTA	0.403000														21			4		0	0	0.000602214	0	0
ETV6	2120	broad.mit.edu	37	12	12022819	12022819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:12022819C>T	uc001qzz.3	+	4	1199	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	ETV6_uc001raa.1_Missense_Mutation_p.R102W	NM_001987	NP_001978	P41212	ETV6_HUMAN	Homo sapiens ets variant 6 (ETV6), mRNA.	309						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCTCTCTCATCGGGAAGACCT	0.577000			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""									47			8		0	0	0.00185496	0	0
BTBD3	22903	broad.mit.edu	37	20	11903564	11903564	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:11903564C>T	uc002wnz.3	+	3	1178	c.819C>T	c.(817-819)ctC>ctT	p.L273L	BTBD3_uc002wny.3_Silent_p.L212L|BTBD3_uc002woa.3_Silent_p.L212L|BTBD3_uc010zrf.2_Silent_p.L122L|BTBD3_uc010zrg.2_Silent_p.L122L|BTBD3_uc010zrh.2_Silent_p.L122L	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN	Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.	273										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						AAAGTATTCTCCGTAGGGAAA	0.483000														62			9		0	0	0.000442599	0	0
YEATS2	55689	broad.mit.edu	37	3	183442213	183442213	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:183442213T>C	uc003fly.2	+	5	739	c.544T>C	c.(544-546)Tct>Cct	p.S182P		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	182					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCAGGATACTTCTAGAATTAC	0.333000														25			6		0	0	0.00198382	0	0
SERPINB3	6317	broad.mit.edu	37	18	61306990	61306990	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:61306990G>A	uc002ljf.3	-	5	576	c.490C>T	c.(490-492)Cct>Tct	p.P164S	SERPINB3_uc002lje.3_Missense_Mutation_p.P164S|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	164					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GTCCCATCAGGAAATAGGTTT	0.358000														35			10		0	0	0.000978159	0	0
TRIM46	80128	broad.mit.edu	37	1	155156586	155156586	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:155156586G>A	uc001fhs.1	+	9	2283	c.2200G>A	c.(2200-2202)Ggc>Agc	p.G734S	TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.G608S|TRIM46_uc001fhu.1_Missense_Mutation_p.G711S|TRIM46_uc001fhw.1_Non-coding_Transcript|TRIM46_uc021pao.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	734	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CATCGGGGGTGGCGCAGTACA	0.622000														16			9		0	0	0.000442599	0	0
FAM193A	8603	broad.mit.edu	37	4	2695381	2695381	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:2695381C>T	uc010ick.3	+	14	2600	c.2599C>T	c.(2599-2601)Ccc>Tcc	p.P867S	FAM193A_uc003gfd.3_Missense_Mutation_p.P667S|FAM193A_uc011bvm.2_Missense_Mutation_p.P689S|FAM193A_uc011bvn.2_Missense_Mutation_p.P667S|FAM193A_uc010icl.3_Missense_Mutation_p.P667S|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Missense_Mutation_p.P521S	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	667										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GAGGAATAGCCCCACGGGCTT	0.637000														61			21		0	0	0.00278032	0	0
ZFP37	7539	broad.mit.edu	37	9	115806392	115806392	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:115806392G>A	uc011lwz.1	-	3	579	c.551C>T	c.(550-552)cCt>cTt	p.P184L	ZFP37_uc004bgm.1_Missense_Mutation_p.P169L|ZFP37_uc011lxa.1_Missense_Mutation_p.P170L	NM_003408	NP_003399	Q9Y6Q3	ZFP37_HUMAN	Homo sapiens zinc finger protein 37 homolog (mouse) (ZFP37), mRNA.	169						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TTTCTTTGAAGGAACATGTTT	0.338000														33			20		0	0	0.00152264	0	0
RPS6KL1	83694	broad.mit.edu	37	14	75376364	75376364	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:75376364C>T	uc010tux.2	-	6	1680	c.1152G>A	c.(1150-1152)gtG>gtA	p.V384V	RPS6KL1_uc010asd.2_Non-coding_Transcript|RPS6KL1_uc001xqx.1_Silent_p.V136V|RPS6KL1_uc021rwp.1_Silent_p.V353V	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	Homo sapiens ribosomal protein S6 kinase-like 1 (RPS6KL1), mRNA.	384	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GCTCCTCTCTCACACTCCAGG	0.711000														16			4		0	0	0.000602214	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37430756	37430756	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:37430756G>A	uc021ppc.1	+	6	862	c.763G>A	c.(763-765)Gaa>Aaa	p.E255K	ANKRD30A_uc001iza.1_Missense_Mutation_p.E255K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	311						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						ACCCTTGGTGGAAAGAACACC	0.498000														28			6		0	0	0.00198382	0	0
ELMO1	9844	broad.mit.edu	37	7	37283994	37283994	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:37283994C>T	uc022abv.1	-	6	1126	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	ELMO1_uc011kbc.2_Missense_Mutation_p.R43Q|ELMO1_uc003tfk.2_Missense_Mutation_p.R139Q|ELMO1_uc010kxg.2_Missense_Mutation_p.R139Q	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	139					Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TTTCTGGTATCGCCTGCAAAA	0.343000														164			22		0	0	0.000720815	0	0
SNTG1	54212	broad.mit.edu	37	8	51449329	51449329	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:51449329C>T	uc010lxy.1	+	11	1012	c.641C>T	c.(640-642)tCg>tTg	p.S214L	SNTG1_uc003xqs.1_Missense_Mutation_p.S214L|SNTG1_uc010lxz.1_Missense_Mutation_p.S214L|SNTG1_uc011ldl.1_Non-coding_Transcript	NM_018967	NP_061840	Q9NSN8	SNTG1_HUMAN	Homo sapiens syntrophin, gamma 1 (SNTG1), mRNA.	214					cell communication	cytoplasm|cytoskeleton|nucleus|ruffle membrane|syntrophin complex	actin binding|protein C-terminus binding	p.S214S(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(36)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	66		all_cancers(86;0.00754)|all_epithelial(80;9.76e-05)|Lung NSC(129;0.000865)|all_lung(136;0.00249)|Colorectal(162;0.22)				CTACTTCATTCGCGCTTCTCT	0.483000														78			12		0	0	0.00244969	0	0
TCL6	27004	broad.mit.edu	37	14	96136832	96136833	+	RNA	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:96136832_96136833CC>TT	uc001yep.1	+	7		c.1631_1632CC>TT			TCL6_uc021sbf.1_Non-coding_Transcript|TCL6_uc021sbg.1_Non-coding_Transcript|TCL6_uc021sbh.1_Non-coding_Transcript|TCL6_uc001yet.1_Non-coding_Transcript|TCL6_uc001yeu.2_Non-coding_Transcript|TCL6_uc001yev.2_Intron|TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript					Homo sapiens T-cell leukemia/lymphoma 6 (non-protein coding) (TCL6), non-coding RNA.											large_intestine(1)|lung(7)	8		all_cancers(154;0.103)		Epithelial(152;0.0655)|all cancers(159;0.149)|BRCA - Breast invasive adenocarcinoma(234;0.206)|COAD - Colon adenocarcinoma(157;0.207)		AGAGCAGCTGCCATTGCAGATT	0.465000			T	TRA@	T-ALL									15			6		0	0	6.4e-05	0	0
LRP2	4036	broad.mit.edu	37	2	170009333	170009333	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:170009333C>T	uc002ues.3	-	66	12650	c.12437G>A	c.(12436-12438)gGa>gAa	p.G4146E		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4146					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)	CACTGCTATTCCATCTGGCTG	0.473000														74			20		0	0	0.00188189	0	0
DNAH3	55567	broad.mit.edu	37	16	20975406	20975406	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:20975406T>C	uc010vbe.2	-	52	9800	c.9800A>G	c.(9799-9801)aAa>aGa	p.K3267R	DNAH3_uc010vbd.2_Missense_Mutation_p.K702R	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3267	AAA 5 (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)		AGATAGCACTTTGGAGGAGGA	0.468000														109			31		0	0	0.0024448	0	0
CWF19L2	143884	broad.mit.edu	37	11	107263597	107263597	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:107263597G>A	uc010rvp.2	-	10	1672	c.1642C>T	c.(1642-1644)Ctt>Ttt	p.L548F	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	548							catalytic activity	p.P547L(1)|p.L394F(1)		endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		GTTCTGACAAGGATTACTTCT	0.338000														44			18		0	0	0.00121646	0	0
ITGB6	3694	broad.mit.edu	37	2	160982960	160982960	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:160982960T>G	uc002ubh.2	-	10	1828	c.1813A>C	c.(1813-1815)Aca>Cca	p.T605P	ITGB6_uc010fou.2_Missense_Mutation_p.T605P|ITGB6_uc010zcq.1_Missense_Mutation_p.T563P|ITGB6_uc010fov.1_Missense_Mutation_p.T605P	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	605	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CCAGGGTTTGTGCAAACACAC	0.542000														24			9		0	0	0.000978159	0	0
RP1	6101	broad.mit.edu	37	8	55540533	55540533	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:55540533G>A	uc003xsd.1	+	3	4239	c.4091G>A	c.(4090-4092)aGa>aAa	p.R1364K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1364					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GAGTTAGAAAGAGGTGATGAC	0.328000														94			24		0	0	0.00229938	0	0
MYO1F	4542	broad.mit.edu	37	19	8609209	8609209	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:8609209C>T	uc002mkg.3	-	13	1634	c.1496G>A	c.(1495-1497)gGc>gAc	p.G499D		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	499	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						GATGACGAAGCCGGCGCTCCA	0.687000														36			11		0	0	0.00185496	0	0
CUL9	23113	broad.mit.edu	37	6	43188298	43188298	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:43188298C>T	uc003ouk.3	+	31	6459	c.6384C>T	c.(6382-6384)ttC>ttT	p.F2128F	CUL9_uc003oul.3_Silent_p.F2100F|CUL9_uc010jyk.3_Silent_p.F1280F|CUL9_uc003oun.3_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	2128					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CCGGAGCCTTCATTCGTGCCA	0.587000														159			27		0	0	0.00127121	0	0
CFH	3075	broad.mit.edu	37	1	196874238	196874238	+	Splice_Site	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:196874238G>A	uc001gtp.3	+	3	394	c.257_splice	c.e3-1	p.R86_splice	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Splice_Site_p.R85_splice|CFH_uc001gto.3_Intron	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	446	Sushi 2.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TCTATTTTAGGAACATGCTCA	0.264000														28			5		0	0	0.00198382	0	0
GK2	2712	broad.mit.edu	37	4	80328545	80328545	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:80328545G>A	uc003hlu.3	-	0	828	c.810C>T	c.(808-810)ttC>ttT	p.F270F		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	270					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						GTCCCTCCTGGAAGCACATTT	0.463000														63			6		0	0	0.00116845	0	0
TRO	7216	broad.mit.edu	37	X	54954169	54954169	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:54954169C>T	uc004dtq.3	+	10	1940	c.1833C>T	c.(1831-1833)tcC>tcT	p.S611S	TRO_uc004dts.3_Silent_p.S611S|TRO_uc004dtr.3_Silent_p.S611S|TRO_uc004dtt.3_Non-coding_Transcript|TRO_uc004dtu.3_Non-coding_Transcript|TRO_uc004dtv.3_Silent_p.S214S|TRO_uc011mok.2_Silent_p.S142S|TRO_uc004dtw.3_Silent_p.S214S|TRO_uc004dtx.3_5'UTR	NM_001039705	NP_001034794	Q12816	TROP_HUMAN	Homo sapiens trophinin (TRO), transcript variant 6, mRNA.	611	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane		p.R610C(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCTTGCGCTCCTACCACGAGA	0.483000														15			8		0	0	0.000274275	0	0
SDK1	221935	broad.mit.edu	37	7	4050601	4050601	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:4050601C>T	uc003smx.3	+	14	2274	c.2135C>T	c.(2134-2136)tCt>tTt	p.S712F	SDK1_uc010kso.3_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	712	Fibronectin type-III 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTTTCAGACTCTCCATGGAAG	0.493000														43			9		0	0	0.000673444	0	0
ANKRD40	91369	broad.mit.edu	37	17	48777138	48777138	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:48777138T>C	uc002iso.3	-	2	655	c.400A>G	c.(400-402)Aca>Gca	p.T134A		NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	Homo sapiens ankyrin repeat domain 40 (ANKRD40), mRNA.	134										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			GCTGTGGGTGTATAGATAAAA	0.552000														17			11		0	0	0.00136819	0	0
BTK	695	broad.mit.edu	37	X	100608324	100608324	+	Missense_Mutation	SNP	T	C	C	rs128621206		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:100608324T>C	uc010nno.2	-	17	2101	c.1868A>G	c.(1867-1869)gAa>gGa	p.E623G	BTK_uc004ehf.2_Missense_Mutation_p.E89G|BTK_uc010nnh.2_Non-coding_Transcript|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Non-coding_Transcript|BTK_uc010nnj.2_Non-coding_Transcript|BTK_uc010nnk.2_Non-coding_Transcript|BTK_uc010nnl.2_Missense_Mutation_p.E65G|BTK_uc010nnm.2_Missense_Mutation_p.E159G|BTK_uc004ehg.2_Missense_Mutation_p.E589G|BTK_uc010nnn.2_Missense_Mutation_p.E413G	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	589	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GGAGTAAATTTCCCACATCAA	0.433000									Agammaglobulinemia, X-linked					78			30		0	0	0.00209593	0	0
GATA2	2624	broad.mit.edu	37	3	128204928	128204928	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:128204928G>A	uc003ekm.3	-	3	948	c.513C>T	c.(511-513)ttC>ttT	p.F171F	GATA2_uc003ekn.3_Silent_p.F171F|GATA2_uc003eko.2_Silent_p.F171F	NM_001145661	NP_116027	P23769	GATA2_HUMAN	Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA.	171					blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GTGGGAAGCCGAAAAGGTGGG	0.677000			Mis		AML(CML blast transformation)									8			11		0	0	0.00244969	0	0
MYOF	26509	broad.mit.edu	37	10	95191178	95191178	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:95191178C>T	uc001kin.3	-	3	455	c.332G>A	c.(331-333)gGg>gAg	p.G111E	MYOF_uc001kio.3_Missense_Mutation_p.G111E|MYOF_uc001kip.4_Missense_Mutation_p.G111E|MYOF_uc009xuf.2_Missense_Mutation_p.G93E	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	111					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGTATCTTGCCCTTTTTCATT	0.473000														26			4		0	0	0.00024832	0	0
NLRP12	91662	broad.mit.edu	37	19	54313084	54313084	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:54313084G>A	uc002qcj.4	-	2	2049	c.1829C>T	c.(1828-1830)tCc>tTc	p.S610F	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.S610F|NLRP12_uc002qci.4_Missense_Mutation_p.S610F|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.S610F	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	610					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of Toll signaling pathway|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GAACTCCAAGGAGCCCTGCTG	0.567000														43			7		0	0	0.000157383	0	0
AGBL5	60509	broad.mit.edu	37	2	27280199	27280199	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:27280199G>A	uc002rie.3	+	8	1781	c.1564G>A	c.(1564-1566)Gga>Aga	p.G522R	AGBL5_uc002rid.3_Missense_Mutation_p.G522R|AGBL5_uc002rif.3_Non-coding_Transcript	NM_021831	NP_068603	Q8NDL9	CBPC5_HUMAN	Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA.	522					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTACAACACTGGACGCTCAGT	0.522000														23			25		0	0	0.00278032	0	0
OGDH	4967	broad.mit.edu	37	7	44713424	44713424	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:44713424C>T	uc003tln.3	+	5	831	c.672C>T	c.(670-672)ttC>ttT	p.F224F	OGDH_uc003tlm.3_Silent_p.F224F|OGDH_uc011kbx.2_Silent_p.F220F|OGDH_uc011kby.2_Intron|OGDH_uc003tlp.3_Silent_p.F235F|OGDH_uc011kbz.2_Intron|OGDH_uc003tlo.1_Silent_p.F57F	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	224					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	AGTTCATGTTCATCAATGACC	0.517000														82			13		0	0	0.000308642	0	0
LAMB3	3914	broad.mit.edu	37	1	209803983	209803983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:209803983C>T	uc001hhg.3	-	7	1310	c.920G>A	c.(919-921)gGc>gAc	p.G307D	LAMB3_uc009xco.3_Missense_Mutation_p.G307D|LAMB3_uc001hhh.3_Missense_Mutation_p.G307D|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Missense_Mutation_p.G243D	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	307	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGCGTCCTGGCCCTCCGCCGG	0.607000														16			5		0	0	0.000602214	0	0
ANKS1A	23294	broad.mit.edu	37	6	34985818	34985818	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:34985818C>T	uc003ojx.4	+	10	2134	c.1992C>T	c.(1990-1992)ttC>ttT	p.F664F	ANKS1A_uc011dst.2_Silent_p.F204F|ANKS1A_uc010jvp.2_Intron	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	664						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						CACCCTCCTTCGCCTCGGAGT	0.607000														80			11		0	0	0.000978159	0	0
DDHD1	80821	broad.mit.edu	37	14	53560128	53560128	+	Silent	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:53560128C>A	uc001xai.3	-	2	1277	c.1047G>T	c.(1045-1047)gtG>gtT	p.V349V	DDHD1_uc001xaj.3_Silent_p.V356V|DDHD1_uc001xah.3_Silent_p.V349V|DDHD1_uc001xag.3_5'UTR	NM_001160148	NP_001153620	Q8NEL9	DDHD1_HUMAN	Homo sapiens DDHD domain containing 1 (DDHD1), transcript variant 3, mRNA.	349					lipid catabolic process	cytoplasm	hydrolase activity|metal ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					TGTGCCAGTCCACATGGTTTC	0.338000														71			20		5.26018e-13	1.7791e-12	0.00188189	1	0
C9	735	broad.mit.edu	37	5	39311419	39311419	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:39311419G>A	uc003jlv.4	-	6	1020	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	311	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex		p.R311C(2)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			ACAACATCGCGATTTCTCATT	0.363000														29			12		0	0	0.000978159	0	0
MAP1B	4131	broad.mit.edu	37	5	71494963	71494963	+	Silent	SNP	G	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:71494963G>T	uc003kbw.4	+	4	6022	c.5781G>T	c.(5779-5781)ggG>ggT	p.G1927G	MAP1B_uc010iyw.1_Silent_p.G1944G|MAP1B_uc010iyx.1_Silent_p.G1801G|MAP1B_uc010iyy.1_Silent_p.G1801G	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1927						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGACCATTGGGAAAACTACCA	0.463000														37			10		3.07112e-06	1.03256e-05	0.000978159	1	0
LRRN3	54674	broad.mit.edu	37	7	110763663	110763663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:110763663G>A	uc003vft.4	+	3	1881	c.835G>A	c.(835-837)Gat>Aat	p.D279N	IMMP2L_uc003vfq.2_Intron|IMMP2L_uc010ljr.2_Intron|IMMP2L_uc003vfr.3_Intron|LRRN3_uc003vfu.4_Missense_Mutation_p.D279N|LRRN3_uc003vfs.4_Missense_Mutation_p.D279N|LRRN3_uc022akc.1_Missense_Mutation_p.D279N	NM_001099660	NP_060804	Q9H3W5	LRRN3_HUMAN	Homo sapiens leucine rich repeat neuronal 3 (LRRN3), transcript variant 1, mRNA.	279						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		ACGAAGGGGTGATTTTAGCAA	0.338000														57			9		0	0	0.000274275	0	0
PLCB1	23236	broad.mit.edu	37	20	8678311	8678311	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:8678311C>T	uc002wnb.3	+	10	1051	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C	PLCB1_uc010zrb.1_Missense_Mutation_p.R249C|PLCB1_uc002wna.3_Missense_Mutation_p.R350C|PLCB1_uc002wnc.1_Missense_Mutation_p.R249C	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	350	PI-PLC X-box.				CD24 biosynthetic process|G1 phase|G2/M transition of mitotic cell cycle|activation of meiosis involved in egg activation|cerebral cortex development|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of JNK cascade|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of G-protein coupled receptor protein signaling pathway|regulation of fertilization|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	GTPase activator activity|calcium ion binding|calmodulin binding|enzyme binding|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity	p.R350C(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TGAGATGTATCGCCAAGTGCT	0.522000														84			20		0	0	0.00188189	0	0
KIAA1274	27143	broad.mit.edu	37	10	72324250	72324250	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:72324250G>A	uc001jrd.4	+	18	2674	c.2393G>A	c.(2392-2394)aGg>aAg	p.R798K	KIAA1274_uc001jre.4_Missense_Mutation_p.R89K	NM_014431	NP_055246	Q9ULE6	PALD_HUMAN	Homo sapiens KIAA1274 (KIAA1274), mRNA.	798										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(21)|ovary(2)|prostate(4)|urinary_tract(1)	36						TCCTGGCAGAGGCCCTTCAGC	0.647000														34			19		0	0	0.00188189	0	0
CACNA1I	8911	broad.mit.edu	37	22	40015314	40015314	+	Splice_Site	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:40015314G>A	uc003ayc.3	+	4	483	c.483_splice	c.e4-1	p.G161_splice	CACNA1I_uc003ayd.3_Splice_Site_p.G161_splice|CACNA1I_uc003aye.3_Splice_Site_p.G76_splice|CACNA1I_uc003ayf.3_Splice_Site_p.G76_splice	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	161					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TTTCTCTGCAGGATGGTCGAG	0.632000														31			14		0	0	0.000308642	0	0
DFFB	1677	broad.mit.edu	37	1	3786176	3786176	+	Missense_Mutation	SNP	C	T	T	rs140809202		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:3786176C>T	uc001alc.3	+	4	841	c.518C>T	c.(517-519)tCc>tTc	p.S173F	DFFB_uc001ale.3_Non-coding_Transcript|DFFB_uc009vlp.3_Non-coding_Transcript|DFFB_uc001alb.3_Non-coding_Transcript|DFFB_uc010nzn.2_Missense_Mutation_p.S197F|DFFB_uc009vlq.3_Non-coding_Transcript|DFFB_uc009vlr.3_Missense_Mutation_p.S124F|DFFB_uc001ald.3_Missense_Mutation_p.S109F	NM_004402	NP_004393	O76075	DFFB_HUMAN	Homo sapiens DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase) (DFFB), mRNA.	173					DNA fragmentation involved in apoptotic nuclear change|apoptotic chromosome condensation|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CAGGTGAGCTCCTACCCCTCC	0.627000														11			4		0	0	0.000602214	0	0
GALP	85569	broad.mit.edu	37	19	56694574	56694574	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:56694574G>A	uc002qmo.1	+	4	370	c.288G>A	c.(286-288)gaG>gaA	p.E96E	GALP_uc010eti.2_3'UTR	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN	Homo sapiens galanin-like peptide (GALP), transcript variant 1, mRNA.	96					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		CCAAACCAGAGATTGGAGGTA	0.507000														37			11		0	0	0.00185496	0	0
C7orf62	219557	broad.mit.edu	37	7	88423674	88423674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:88423674C>T	uc003ujv.3	-	1	765	c.583G>A	c.(583-585)Gga>Aga	p.G195R	ZNF804B_uc011khi.2_Intron|C7orf62_uc022ahc.1_Missense_Mutation_p.G195R	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	Homo sapiens chromosome 7 open reading frame 62 (C7orf62), mRNA.	195										NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TCGCCTGGTCCTTTAGTGCCT	0.448000														41			6		0	0	0.00116845	0	0
CXCR7	57007	broad.mit.edu	37	2	237489867	237489867	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:237489867C>T	uc021vys.1	+	0	759	c.759C>T	c.(757-759)atC>atT	p.I253I	CXCR7_uc010fyq.3_Silent_p.I253I|CXCR7_uc002vwd.3_Silent_p.I253I	NM_020311	NP_064707	P25106	CXCR7_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 7 (CXCR7), mRNA.	253					interspecies interaction between organisms	integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(2)|skin(1)	4		Breast(86;0.000182)|Renal(207;0.00339)|all_hematologic(139;0.0048)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|all_lung(227;0.147)|all_neural(83;0.223)		Epithelial(121;8.35e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.09e-11)|Kidney(56;1.11e-07)|KIRC - Kidney renal clear cell carcinoma(57;3.03e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000176)|Lung(119;0.00468)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.118)		GCCGGAAGATCATCTTCTCCT	0.567000														35			12		0	0	0.00136819	0	0
PCLO	27445	broad.mit.edu	37	7	82584293	82584293	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:82584293C>T	uc003uhx.2	-	4	6265	c.5976G>A	c.(5974-5976)aaG>aaA	p.K1992K	PCLO_uc003uhv.2_Silent_p.K1992K	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1923					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						AAAGTCTTATCTTTTGCTCTC	0.383000														208			27		0	0	0.001512	0	0
SATL1	340562	broad.mit.edu	37	X	84363411	84363411	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:84363411C>T	uc004een.3	-	0	564	c.564G>A	c.(562-564)atG>atA	p.M188I		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	1	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTGGTGGACTCATGTTTGGTT	0.557000											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		49			16		0	0	0.00074312	0	0
TLK2	11011	broad.mit.edu	37	17	60642473	60642473	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:60642473G>A	uc010ddp.3	+	10	1211	c.943G>A	c.(943-945)Ggt>Agt	p.G315S	TLK2_uc002izx.4_Missense_Mutation_p.G163S|TLK2_uc002izz.4_Missense_Mutation_p.G315S|TLK2_uc002jaa.4_Missense_Mutation_p.G283S|TLK2_uc010wpd.2_Missense_Mutation_p.G283S	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	Homo sapiens tousled-like kinase 2 (TLK2), transcript variant A, mRNA.	315					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						GTGGACAGATGGTTATGCTTT	0.393000														40			46		0	0	0.000781405	0	0
DSCAML1	57453	broad.mit.edu	37	11	117329626	117329626	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:117329626C>T	uc001prh.1	-	19	3595	c.3593_splice	c.e19-1	p.E1198_splice		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1138	Fibronectin type-III 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TCGCCCCACTCTGCCAGAGAC	0.642000														39			7		0	0	0.00198382	0	0
TCEB1	6921	broad.mit.edu	37	8	74859020	74859020	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:74859020A>T	uc022avv.1	-	5	468	c.184T>A	c.(184-186)Ttt>Att	p.F62I	TCEB1_uc022avw.1_Missense_Mutation_p.F62I|TCEB1_uc022avx.1_Missense_Mutation_p.F62I|TCEB1_uc003xzy.2_Missense_Mutation_p.F62I|TCEB1_uc003yaa.2_Missense_Mutation_p.F62I|TCEB1_uc022avy.1_Missense_Mutation_p.F62I|TCEB1_uc003xzx.2_Missense_Mutation_p.F62I|TCEB1_uc022avz.1_Missense_Mutation_p.F46I|TCEB1_uc003xzz.2_Missense_Mutation_p.F46I	NM_001204861	NP_001191790	Q15369	ELOC_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C) (TCEB1), transcript variant 7, mRNA.	62					interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding			endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			ATCTCTCTAAAATTGACCTCA	0.378000														94			15		0	0	0.000422831	0	0
DNAH8	1769	broad.mit.edu	37	6	38854576	38854576	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:38854576G>A	uc021yzh.1	+	56	8378	c.8269G>A	c.(8269-8271)Gag>Aag	p.E2757K	DNAH8_uc003ooe.2_Missense_Mutation_p.E2540K	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						GATAACTAATGAGATTGTGCG	0.348000														77			7		0	0	0.000157383	0	0
SLC22A9	114571	broad.mit.edu	37	11	63141414	63141414	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:63141414G>A	uc001nww.3	+	3	978	c.710G>A	c.(709-711)gGa>gAa	p.G237E	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	237					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ATTACATTGGGAATGTGCCCT	0.473000														7			4		0	0	0.00024832	0	0
MGAM	8972	broad.mit.edu	37	7	141758086	141758086	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:141758086C>T	uc003vwy.3	+	30	3831	c.3777C>T	c.(3775-3777)atC>atT	p.I1259I		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1259	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTCTGAGATCGCCAGCTTGT	0.498000														226			30		0	0	0.0024448	0	0
SLC38A4	55089	broad.mit.edu	37	12	47178909	47178909	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:47178909T>A	uc001rpi.2	-	5	777	c.378A>T	c.(376-378)ttA>ttT	p.L126F	SLC38A4_uc001rpj.2_Missense_Mutation_p.L126F|SLC38A4_uc009zkl.2_Missense_Mutation_p.L126F	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	126					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTGTTTTTAATAAAAGGTGAA	0.343000														26			8		0	0	0.000978159	0	0
CACNA1S	779	broad.mit.edu	37	1	201031122	201031122	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:201031122G>A	uc001gvv.3	-	23	3230	c.3003C>T	c.(3001-3003)ctC>ctT	p.L1001L		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1001	Dihydropyridine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TCATGGCTGAGAGCACATTGT	0.582000														16			6		0	0	0.000157383	0	0
BTC	685	broad.mit.edu	37	4	75695356	75695356	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:75695356G>A	uc003hig.2	-	1	422	c.75C>T	c.(73-75)atC>atT	p.I25I		NM_001729	NP_001720	P35070	BTC_HUMAN	Homo sapiens betacellulin (BTC), mRNA.	25					positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			CACAGTGAAGGATCACTAGAC	0.408000														40			14		0	0	0.00074312	0	0
PLCG2	5336	broad.mit.edu	37	16	81902886	81902886	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:81902886C>T	uc002fgt.3	+	5	725	c.547C>T	c.(547-549)Ctt>Ttt	p.L183F	PLCG2_uc010chg.1_Missense_Mutation_p.L183F	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	183					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGCCAAGTTCCTTAAAGATAA	0.468000														82			19		0	0	0.00121646	0	0
C1GALT1	56913	broad.mit.edu	37	7	7283248	7283249	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:7283248_7283249CC>TT	uc003srb.2	+	3	1205_1206	c.982_983CC>TT	c.(982-984)cca>TTa	p.P328L	C1GALT1_uc003sra.3_Missense_Mutation_p.P328L	NM_020156	NP_064541	Q9NS00	C1GLT_HUMAN	Homo sapiens core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1 (C1GALT1), mRNA.	328					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		TCATCTTCGTCCATATGGTTAT	0.347000														178			32		0	0	6.4e-05	0	0
GPR101	83550	broad.mit.edu	37	X	136112390	136112390	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:136112390C>T	uc011mwh.2	-	0	1444	c.1444G>A	c.(1444-1446)Gat>Aat	p.D482N		NM_054021	NP_473362	Q96P66	GP101_HUMAN	Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA.	482						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GGGTGGCTATCTTCTTTCGGG	0.483000														34			9		0	0	0.000442599	0	0
MEGF8	1954	broad.mit.edu	37	19	42848597	42848597	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:42848597C>T	uc002otl.4	+	10	2428	c.1793C>T	c.(1792-1794)cCa>cTa	p.P598L	MEGF8_uc002otm.4_Missense_Mutation_p.P139L	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	598	PSI 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCGCAGTGTCCAGCCGCCAGC	0.667000														41			7		0	0	0.000673444	0	0
NPHS1	4868	broad.mit.edu	37	19	36339028	36339028	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:36339028C>T	uc002oby.3	-	10	1511	c.1355G>A	c.(1354-1356)gGc>gAc	p.G452D		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	452	Ig-like C2-type 5.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGCTTCTGGCCCTCTGGGGG	0.627000														32			14		0	0	0.000566183	0	0
CCNB3	85417	broad.mit.edu	37	X	50089709	50089709	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:50089709G>A	uc004dox.4	+	9	4011	c.3713G>A	c.(3712-3714)cGa>cAa	p.R1238Q	CCNB3_uc004doy.3_Missense_Mutation_p.R1238Q|CCNB3_uc004doz.3_Missense_Mutation_p.R134Q|CCNB3_uc010njq.3_Missense_Mutation_p.R130Q|CCNB3_uc004dpa.3_Missense_Mutation_p.R77Q	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	1238					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AATTATCAGCGATCTGAGGTA	0.463000														44			17		0	0	0.00074312	0	0
BICC1	80114	broad.mit.edu	37	10	60549031	60549031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:60549031C>T	uc001jki.1	+	6	610	c.610C>T	c.(610-612)Cct>Tct	p.P204S		NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	204					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						GGAGCTGCTTCCTTTGGTGCT	0.383000														34			9		0	0	0.000442599	0	0
NBEA	26960	broad.mit.edu	37	13	36223864	36223864	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:36223864C>T	uc021rid.1	+	50	8314	c.7780C>T	c.(7780-7782)Cct>Tct	p.P2594S	NBEA_uc021ric.1_Missense_Mutation_p.P2591S|NBEA_uc010abi.3_Missense_Mutation_p.P1250S|NBEA_uc010tee.1_Missense_Mutation_p.P387S|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.P387S|NBEA_uc001uvd.3_Missense_Mutation_p.P172S	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2594						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCTGAAGTTTCCTTCAAATTC	0.478000														73			37		0	0	0.00222228	0	0
EPHB1	2047	broad.mit.edu	37	3	134920471	134920471	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:134920471C>A	uc003eqt.3	+	11	2661	c.2286C>A	c.(2284-2286)gaC>gaA	p.D762E	EPHB1_uc003equ.3_Missense_Mutation_p.D323E	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	762	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.S761S(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						AGGTGTCCGACTTTGGCCTCT	0.532000														25			5		0.000602214	0.00201677	0.000602214	1	0
LRRC1	55227	broad.mit.edu	37	6	53785519	53785519	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:53785519G>A	uc003pcd.1	+	12	1897	c.1376G>A	c.(1375-1377)cGa>cAa	p.R459Q		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	Homo sapiens leucine rich repeat containing 1 (LRRC1), mRNA.	459						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		AGTGCGATCCGATTTGTGGAG	0.453000														24			18		0	0	0.000958276	0	0
FGD6	55785	broad.mit.edu	37	12	95501342	95501342	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:95501342G>A	uc001tdp.4	-	11	3554	c.3330C>T	c.(3328-3330)ttC>ttT	p.F1110F	FGD6_uc009zsx.3_Silent_p.F243F|FGD6_uc001tdq.1_Silent_p.F146F	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	1110	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	Golgi apparatus|cytoskeleton|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CTCTTACCAGGAAAAACATTC	0.423000														30			8		0	0	0.000673444	0	0
MYL4	4635	broad.mit.edu	37	17	45297383	45297383	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:45297383G>A	uc002ilg.3	+	3	405	c.277G>A	c.(277-279)Gag>Aag	p.E93K	MYL4_uc002ilh.3_Missense_Mutation_p.E93K	NM_001002841	NP_002467	P12829	MYL4_HUMAN	Homo sapiens myosin, light chain 4, alkali; atrial, embryonic (MYL4), transcript variant 1, mRNA.	93					cardiac muscle contraction|muscle filament sliding|muscle organ development|positive regulation of ATPase activity|regulation of the force of heart contraction	A band|cytosol|muscle myosin complex	actin filament binding|actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			endometrium(2)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)	11						TACCAATGCCGAGGTGCTGCG	0.617000														15			6		0	0	0.000157383	0	0
TNXB	7148	broad.mit.edu	37	6	32018024	32018025	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:32018024_32018025CC>AA	uc003nzl.2	-	26	9385_9386	c.9183_9184GG>TT	c.(9181-9186)ctgggg>ctTTgg	p.G3062W		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3109	Fibronectin type-III 22.				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						GTCAGCTCCCCCAGGCGAGGCT	0.619000														398			14		0	0	6.4e-05	0	0
PITPNM3	83394	broad.mit.edu	37	17	6387017	6387017	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:6387017C>T	uc002gdd.4	-	5	558	c.407G>A	c.(406-408)gGg>gAg	p.G136E	PITPNM3_uc010cln.3_Missense_Mutation_p.G100E|PITPNM3_uc002gdc.4_5'Flank	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	136					phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GATGTTTCCCCCATGCAGGAC	0.632000														15			12		0	0	0.000422831	0	0
TEX34	124783	broad.mit.edu	37	17	43333205	43333205	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:43333205T>C	uc002iis.1	-	3	440	c.344A>G	c.(343-345)aAc>aGc	p.N115S	LOC100133991_uc010dah.3_Intron|TEX34_uc010wjk.1_Missense_Mutation_p.N94S	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN	Homo sapiens chromosome 17 open reading frame 46 (C17orf46), mRNA.	115																	CAGCCCCATGTTGGAGTGGAC	0.552000														112			25		0	0	0.00209593	0	0
THBS2	7058	broad.mit.edu	37	6	169648950	169648950	+	Silent	SNP	G	A	A	rs139930955	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:169648950G>A	uc003qwt.3	-	3	419	c.171C>T	c.(169-171)ttC>ttT	p.F57F		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	57	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CAAAGCGCACGAAGCGGTAAG	0.592000														14			5		0	0	0.000602214	0	0
GALNTL5	168391	broad.mit.edu	37	7	151664293	151664293	+	Splice_Site	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:151664293G>A	uc003wkp.3	+	2	232	c.-38_splice	c.e2-1		GALNTL5_uc010lqf.3_Splice_Site|GALNTL5_uc003wkq.3_Splice_Site|GALNTL5_uc003wkr.3_Splice_Site|GALNTL5_uc003wks.3_Splice_Site	NM_145292	NP_660335	Q7Z4T8	GLTL5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5 (GALNTL5), transcript variant 1, mRNA.							Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		TCTGATTTAGGAAATTGAAAA	0.333000														24			47		0	0	0.000781405	0	0
PRR12	57479	broad.mit.edu	37	19	50098347	50098347	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:50098347C>T	uc002poo.4	+	3	755	c.755C>T	c.(754-756)tCc>tTc	p.S252F		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	38	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GCTTCCTCTTCCGCTGCCGCC	0.711000														12			5		0	0	0.00198382	0	0
KCNJ2	3759	broad.mit.edu	37	17	68171507	68171507	+	Silent	SNP	C	T	T	rs140274795		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:68171507C>T	uc010dfg.3	+	1	728	c.327C>T	c.(325-327)ctC>ctT	p.L109L	KCNJ2_uc002jir.3_Silent_p.L109L|KCNJ2_uc021ucj.1_Silent_p.L109L	NM_000891	NP_000882	P63252	IRK2_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 2 (KCNJ2), mRNA.	109					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					TAGCTCTGCTCCATGGGGACC	0.532000														52			22		0	0	0.00047179	0	0
KIF13A	63971	broad.mit.edu	37	6	17805797	17805797	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:17805797T>A	uc003ncg.4	-	18	2373	c.2213A>T	c.(2212-2214)aAg>aTg	p.K738M	KIF13A_uc003ncf.3_Missense_Mutation_p.K738M|KIF13A_uc003nch.4_Missense_Mutation_p.K738M|KIF13A_uc003nci.4_Missense_Mutation_p.K738M	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	738					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTGGGTGCTCTTTCCTTTCCT	0.403000														40			13		0	0	0.00136819	0	0
CATSPERB	79820	broad.mit.edu	37	14	92102861	92102861	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:92102861G>A	uc001xzs.1	-	16	1790	c.1650C>T	c.(1648-1650)atC>atT	p.I550I	CATSPERB_uc010aub.1_Silent_p.I72I	NM_024764	NP_079040	Q9H7T0	CTSRB_HUMAN	Homo sapiens cation channel, sperm-associated, beta (CATSPERB), mRNA.	550					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATGCAAAAAAGATAATTTCAT	0.408000														30			11		0	0	0.00136819	0	0
RND1	27289	broad.mit.edu	37	12	49254900	49254900	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:49254900G>A	uc001rsn.3	-	3	436	c.333C>T	c.(331-333)atC>atT	p.I111I		NM_014470	NP_055285	Q92730	RND1_HUMAN	Homo sapiens Rho family GTPase 1 (RND1), mRNA.	111					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						AATAATCTAGGATTTCTGTCC	0.542000														40			12		0	0	0.00136819	0	0
ADAM11	4185	broad.mit.edu	37	17	42854576	42854576	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:42854576G>A	uc002ihh.3	+	20	1724	c.1724G>A	c.(1723-1725)gGg>gAg	p.G575E	ADAM11_uc010wjd.2_Missense_Mutation_p.G375E|ADAM11_uc002ihi.3_5'Flank	NM_002390	NP_002381	O75078	ADA11_HUMAN	Homo sapiens ADAM metallopeptidase domain 11 (ADAM11), mRNA.	575	Cys-rich.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				AATGTGGAGGGGACGGAGCGT	0.642000														42			7		0	0	0.000673444	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72138062	72138062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:72138062C>T	uc001xms.3	+	7	2843	c.2482C>T	c.(2482-2484)Cct>Tct	p.P828S	SIPA1L1_uc001xmt.3_Missense_Mutation_p.P828S|SIPA1L1_uc001xmu.3_Missense_Mutation_p.P828S|SIPA1L1_uc001xmv.3_Missense_Mutation_p.P828S|SIPA1L1_uc010ttm.2_Missense_Mutation_p.P303S	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	828	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCCTATCGACCCTTCTGGCAA	0.512000														26			8		0	0	0.000157383	0	0
KRT37	8688	broad.mit.edu	37	17	39580746	39580746	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:39580746G>A	uc002hwp.1	-	0	77	c.30C>T	c.(28-30)tgC>tgT	p.C10C		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	10	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				AACCCAGAGGGCATGAGGAGG	0.572000														61			11		0	0	0.000308642	0	0
PTPRN2	5799	broad.mit.edu	37	7	157959893	157959893	+	Missense_Mutation	SNP	C	T	T	rs144856548	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:157959893C>T	uc003wno.3	-	5	761	c.640G>A	c.(640-642)Gag>Aag	p.E214K	PTPRN2_uc003wnp.3_Missense_Mutation_p.E197K|PTPRN2_uc003wnq.3_Missense_Mutation_p.E214K|PTPRN2_uc003wnr.3_Missense_Mutation_p.E176K|PTPRN2_uc011kwa.2_Missense_Mutation_p.E237K	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	214						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		AGGAGGTCCTCGCGGAGCTGG	0.647000														14			37		0	0	0.000953801	0	0
GLT6D1	360203	broad.mit.edu	37	9	138516028	138516029	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:138516028_138516029CC>TT	uc010nbd.1	-	4	999_1000	c.745_746GG>AA	c.(745-747)gga>AAa	p.G249K		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	249					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		ATGAATAACTCCGTTCAGATAT	0.381000														67			21		0	0	6.4e-05	0	0
VARS	7407	broad.mit.edu	37	6	31750958	31750958	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:31750958C>T	uc003nxe.3	-	13	2100	c.1677G>A	c.(1675-1677)ctG>ctA	p.L559L	VARS_uc011doi.1_Non-coding_Transcript	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	559					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TCTTCCCCTTCAGGTGCTGGG	0.562000														138			14		0	0	0.000566183	0	0
SLC25A52	147407	broad.mit.edu	37	18	29339985	29339985	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:29339985C>T	uc002kxa.2	-	0	859	c.640G>A	c.(640-642)Gat>Aat	p.D214N		NM_001034172	NP_001029344	Q3SY17	MCAR2_HUMAN	Homo sapiens mitochondrial carrier triple repeat 2 (MCART2), nuclear gene encoding mitochondrial protein, mRNA.	214					transport	integral to membrane|mitochondrial inner membrane											CCGATAAAATCATTGACCAAA	0.453000														100			23		0	0	0.00047179	0	0
DPP8	54878	broad.mit.edu	37	15	65773865	65773865	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:65773865G>T	uc002aov.3	-	8	2732	c.1154C>A	c.(1153-1155)cCt>cAt	p.P385H	DPP8_uc002aow.3_Missense_Mutation_p.P385H|DPP8_uc010uiv.2_Non-coding_Transcript|DPP8_uc021soz.1_Missense_Mutation_p.P369H|DPP8_uc002aox.3_Missense_Mutation_p.P369H|DPP8_uc002aoy.3_Missense_Mutation_p.P385H|DPP8_uc002aoz.3_Missense_Mutation_p.P369H|DPP8_uc010bhj.3_Missense_Mutation_p.P385H|DPP8_uc010bhk.1_Intron	NM_130434	NP_569118	Q6V1X1	DPP8_HUMAN	Homo sapiens dipeptidyl-peptidase 8 (DPP8), transcript variant 1, mRNA.	385					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTTTCCCTCAGGAGTCCATCC	0.333000														196			9		0.00185496	0.00620142	0.00185496	1	0
MYT1L	23040	broad.mit.edu	37	2	1983546	1983546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:1983546C>T	uc002qxe.3	-	5	831	c.4G>A	c.(4-6)Gag>Aag	p.E2K	MYT1L_uc002qxd.3_Missense_Mutation_p.E2K|MYT1L_uc002qxf.1_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	2					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTGTCCACCTCCATCTGGGGA	0.607000														7			4		0	0	0.00116845	0	0
EPPK1	83481	broad.mit.edu	37	8	144946006	144946006	+	Silent	SNP	G	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:144946006G>T	uc003zaa.1	-	0	1429	c.1416C>A	c.(1414-1416)ccC>ccA	p.P472P		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	472						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCTCCCCGGGGTCCCCCTG	0.687000														36			8		1.33987e-11	4.52497e-11	0.000673444	1	0
MYRIP	25924	broad.mit.edu	37	3	40204221	40204221	+	Splice_Site	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:40204221G>A	uc003cka.3	+	5	605	c.470_splice	c.e5-1	p.G157_splice	MYRIP_uc010hhu.3_Splice_Site|MYRIP_uc010hhv.3_Splice_Site_p.G157_splice|MYRIP_uc010hhw.3_Splice_Site_p.G68_splice|MYRIP_uc010hhx.1_Splice_Site_p.G157_splice|MYRIP_uc011ayz.2_Splice_Site	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	157	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		ACCCTGCCAGGAGGAAGCCTT	0.433000														71			26		0	0	0.00283554	0	0
TRIML2	205860	broad.mit.edu	37	4	189026058	189026058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:189026058G>A	uc011cle.1	-	1	440	c.218C>T	c.(217-219)tCg>tTg	p.S73L	TRIML2_uc003izl.2_Missense_Mutation_p.S23L|TRIML2_uc011clf.1_Missense_Mutation_p.S73L	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	23							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)		TTTCTCCCTCGATGTGTTCAA	0.408000														79			28		0	0	0.00178596	0	0
ZNF582	147948	broad.mit.edu	37	19	56896043	56896043	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:56896043A>G	uc002qmy.3	-	4	1129	c.836T>C	c.(835-837)gTt>gCt	p.V279A	ZNF582_uc002qmz.1_Missense_Mutation_p.V248A	NM_144690	NP_653291	Q96NG8	ZN582_HUMAN	Homo sapiens zinc finger protein 582 (ZNF582), mRNA.	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		ACCAGTATGAACTCTCTGATG	0.378000														42			9		0	0	0.000274275	0	0
OR52K1	390036	broad.mit.edu	37	11	4510188	4510188	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:4510188C>T	uc001lza.2	+	0	80	c.58C>T	c.(58-60)Cct>Tct	p.P20S		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	20					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGTAGGAATTCCTGGTTTGGA	0.473000														76			20		0	0	0.00047179	0	0
GRIA4	2893	broad.mit.edu	37	11	105789468	105789468	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:105789468C>T	uc001pix.2	+	10	1746	c.1300C>T	c.(1300-1302)Cat>Tat	p.H434Y	GRIA4_uc001piw.2_Missense_Mutation_p.H434Y	NM_000829	NP_000820	P48058	GRIA4_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 4 (GRIA4), transcript variant 1, mRNA.	434					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	CAAGAAAAATCATGAAATGTT	0.299000														6			8		0	0	0.000673444	0	0
EVPL	2125	broad.mit.edu	37	17	74005104	74005104	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:74005104G>A	uc010wss.1	-	21	4476	c.4248C>T	c.(4246-4248)agC>agT	p.S1416S	EVPL_uc002jqi.2_Silent_p.S1394S|EVPL_uc010wst.1_Silent_p.S864S	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1394	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						CCTCATCCAGGCTCCCGCTCA	0.692000														34			30		0	0	0.00178596	0	0
ZNF318	24149	broad.mit.edu	37	6	43306630	43306630	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:43306630A>G	uc003oux.3	-	9	5184	c.5106T>C	c.(5104-5106)agT>agC	p.S1702S	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1702					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCTGGAAGGAACTAGAGGTCC	0.502000														46			6		0	0	0.00198382	0	0
LIX1	167410	broad.mit.edu	37	5	96430739	96430739	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:96430739C>T	uc003kmy.4	-	6	802	c.562_splice	c.e6-1	p.E188_splice		NM_153234	NP_694966	Q8N485	LIX1_HUMAN	Homo sapiens Lix1 homolog (chicken) (LIX1), mRNA.	188										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		GAGATGACTTCCTGGGGGCCA	0.498000														14			5		0	0	0.000602214	0	0
DMBT1	1755	broad.mit.edu	37	10	124351962	124351962	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:124351962G>A	uc001lgk.1	+	19	2457	c.2351G>A	c.(2350-2352)gGa>gAa	p.G784E	DMBT1_uc001lgl.1_Missense_Mutation_p.G774E|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.G784E|DMBT1_uc021qag.1_Missense_Mutation_p.G774E|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.G784E|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.G397E	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	784	SRCR 6.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|calcium-dependent protein binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCGGCCCCAGGAAATGCCCGG	0.627000														21			26		0	0	0.00106085	0	0
VWA5A	4013	broad.mit.edu	37	11	124007356	124007356	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:124007356C>T	uc001pzu.3	+	13	1809	c.1600C>T	c.(1600-1602)Cct>Tct	p.P534S	VWA5A_uc001pzt.3_Missense_Mutation_p.P534S	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	534										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GGTGACATTTCCTCTACAACC	0.443000														66			14		0	0	0.000308642	0	0
SLC22A11	55867	broad.mit.edu	37	11	64329576	64329576	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:64329576C>T	uc001oai.3	+	2	972	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	SLC22A11_uc001oah.1_Missense_Mutation_p.A165V|SLC22A11_uc009ypq.3_Missense_Mutation_p.R200W|SLC22A11_uc001oak.1_Missense_Mutation_p.R29W	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	200					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CTGCGGCCTGCGGTTCGTGGC	0.647000											OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		28			8		0	0	0.000442599	0	0
ANO4	121601	broad.mit.edu	37	12	101520809	101520809	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:101520809G>A	uc010svm.1	+	26	3401	c.2829G>A	c.(2827-2829)agG>agA	p.R943R	ANO4_uc001thw.2_Silent_p.R908R|ANO4_uc001thx.2_Silent_p.R943R|ANO4_uc001thy.2_Silent_p.R463R	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	943						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAAAGGAGAGGAAGAAGAATG	0.483000										HNSCC(74;0.22)				6			6		0	0	0.00116845	0	0
CEACAM6	4680	broad.mit.edu	37	19	42260663	42260663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:42260663G>A	uc002orm.2	+	1	369	c.220G>A	c.(220-222)Gat>Aat	p.D74N		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	74	Ig-like V-type.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CGAAAGAGTGGATGGCAACAG	0.507000														66			14		0	0	0.000308642	0	0
TMEM202	338949	broad.mit.edu	37	15	72699517	72699517	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:72699517A>G	uc002auq.3	+	3	578	c.578A>G	c.(577-579)tAt>tGt	p.Y193C	TMEM202_uc002aur.3_Intron	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	Homo sapiens transmembrane protein 202 (TMEM202), mRNA.	193						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTATGGACCTATTATCTTAAC	0.488000														75			16		0	0	0.000422831	0	0
TMEM18	129787	broad.mit.edu	37	2	669842	669842	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:669842G>A	uc002qwl.3	-	3	336	c.242C>T	c.(241-243)tCg>tTg	p.S81L	TMEM18_uc002qwk.3_Non-coding_Transcript	NM_152834	NP_690047	Q96B42	TMM18_HUMAN	Homo sapiens transmembrane protein 18 (TMEM18), mRNA.	81					cell migration	integral to membrane|nuclear membrane				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		CTGGTATTTCGAAAATAATCT	0.368000														15			17		0	0	0.000422831	0	0
AKR1D1	6718	broad.mit.edu	37	7	137801365	137801365	+	Splice_Site	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:137801365G>A	uc003vtz.3	+	9	1026	c.939_splice	c.e9-1	p.M313_splice	AKR1D1_uc011kqf.2_Splice_Site_p.M272_splice|AKR1D1_uc011kqe.1_Splice_Site_p.V286_splice|AKR1D1_uc010lmy.1_Splice_Site	NM_005989	NP_005980	P51857	AK1D1_HUMAN	Homo sapiens aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase) (AKR1D1), transcript variant 1, mRNA.	313					C21-steroid hormone metabolic process|androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						TGTTTTGGCAGGTGGCGCGAT	0.448000														140			19		0	0	0.000586117	0	0
CRAMP1L	57585	broad.mit.edu	37	16	1703084	1703084	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:1703084C>T	uc010uvh.2	+	6	964	c.964C>T	c.(964-966)Cct>Tct	p.P322S	CRAMP1L_uc002cmf.3_Non-coding_Transcript	NM_020825	NP_065876	Q96RY5	CRML_HUMAN	Homo sapiens Crm, cramped-like (Drosophila) (CRAMP1L), mRNA.	322						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						TCTGAAAGTCCCTATAGAGCT	0.572000														13			5		0	0	0.00116845	0	0
RELN	5649	broad.mit.edu	37	7	103126752	103126752	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:103126752C>T	uc022ajr.1	-	60	10035	c.9875G>A	c.(9874-9876)gGa>gAa	p.G3292E	RELN_uc022ajq.1_Missense_Mutation_p.G3292E|RELN_uc010liz.3_Missense_Mutation_p.G3292E|RN7SK_uc022ajs.1_5'Flank	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3292					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACAGCCACTTCCTATGACTCC	0.502000														88			18		0	0	0.00188189	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471829	47471829	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:47471829C>T	uc001rpm.3	-	2	1612	c.957G>A	c.(955-957)acG>acA	p.T319T	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Silent_p.T319T|AMIGO2_uc001rpl.3_Silent_p.T319T|AMIGO2_uc021qxg.1_Silent_p.T319T	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	319	Ig-like C2-type.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					AGATGAAATCCGTATTTGCAT	0.458000														123			21		0	0	0.00047179	0	0
MUC16	94025	broad.mit.edu	37	19	9088160	9088160	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9088160G>A	uc002mkp.3	-	0	3859	c.3655C>T	c.(3655-3657)Ccc>Tcc	p.P1219S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1219	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P1219S(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						GTGTCCAAGGGAACCAGGGTG	0.502000														115			23		0	0	0.00047179	0	0
OR4N3P	390539	broad.mit.edu	37	15	22413716	22413716	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:22413716C>T	uc001yuf.3	+	0	255	c.15C>T	c.(13-15)ttC>ttT	p.F5F	abParts_uc001yuj.2_Intron					Homo sapiens olfactory receptor, family 4, subfamily N, member 3 pseudogene (OR4N3P), non-coding RNA.																		TGGTGGACTTCCTCTCTGAGA	0.512000														85			16		0	0	0.00229938	0	0
PEX5L	51555	broad.mit.edu	37	3	179689432	179689432	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:179689432C>T	uc003fki.1	-	1	173	c.43G>A	c.(43-45)Gga>Aga	p.G15R	PEX5L_uc011bqd.1_5'UTR|PEX5L_uc011bqe.1_5'UTR|PEX5L_uc011bqf.1_5'UTR|PEX5L_uc003fkj.1_Missense_Mutation_p.G15R|PEX5L_uc010hxd.1_Intron|PEX5L_uc011bqg.1_Intron|PEX5L_uc011bqh.1_Intron	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	15					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)			cttagttttccatatccttgt	0.264000														26			6		0	0	0.00198382	0	0
C15orf23	90417	broad.mit.edu	37	15	40675107	40675107	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:40675107C>T	uc001zll.3	+	0	186	c.71C>T	c.(70-72)tCc>tTc	p.S24F	C15orf23_uc001zlo.3_Missense_Mutation_p.S24F|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Missense_Mutation_p.S24F	NM_033286	NP_150628	Q9Y448	T4AF1_HUMAN	Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA.	24						nucleus	protein binding	p.S24F(2)		central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	14		all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798)		GAGTGCGATTCCCACCCACTT	0.567000														31			7		0	0	0.00198382	0	0
MARCH6	10299	broad.mit.edu	37	5	10426588	10426588	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:10426588C>T	uc003jet.1	+	23	2643	c.2460C>T	c.(2458-2460)tcC>tcT	p.S820S	MARCH6_uc011cmu.1_Silent_p.S772S|MARCH6_uc003jeu.1_Silent_p.S518S|MARCH6_uc011cmv.1_Silent_p.S715S	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	820					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	p.S820S(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TGTTGCTTTCCCTGTGTGTAC	0.433000														71			26		0	0	0.000878237	0	0
FAM153B	202134	broad.mit.edu	37	5	175528076	175528076	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:175528076G>A	uc003mdk.3	+	10	646	c.589G>A	c.(589-591)Ggg>Agg	p.G197R	FAM153B_uc021yic.1_Intron	NM_001079529	NP_001072997	P0C7A2	F153B_HUMAN	Homo sapiens family with sequence similarity 153, member B (FAM153B), mRNA.	197								p.G197W(2)		endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	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;0.000183)	Kidney(146;0.0965)		GGAGGAGCATGGGCCAGGGCA	0.493000														180			21		0	0	0.000953801	0	0
ASB15	142685	broad.mit.edu	37	7	123270144	123270144	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:123270144G>A	uc003vku.1	+	10	1857	c.1565G>A	c.(1564-1566)aGa>aAa	p.R522K	ASB15_uc003vkw.1_Missense_Mutation_p.R522K	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	522					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						GAAGTACAGAGAGAATGGCCA	0.368000														100			16		0	0	0.000566183	0	0
SSX7	280658	broad.mit.edu	37	X	52682505	52682505	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:52682505G>A	uc004dqx.1	-	1	177	c.18C>T	c.(16-18)gcC>gcT	p.A6A		NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 7 (SSX7), mRNA.	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					TCCTTGCAAAGGCGTCGTCTC	0.552000														107			25		0	0	0.000878237	0	0
GATA4	2626	broad.mit.edu	37	8	11612605	11612605	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:11612605G>A	uc011kxc.1	+	3	1420	c.963G>A	c.(961-963)cgG>cgA	p.R321R	GATA4_uc003wub.1_Silent_p.R114R|GATA4_uc003wuc.2_Silent_p.R320R	NM_002052	NP_002043	P43694	GATA4_HUMAN	Homo sapiens GATA binding protein 4 (GATA4), mRNA.	320					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CCAGAAAACGGAAGCCCAAGA	0.463000														40			10		0	0	0.00185496	0	0
DNAH5	1767	broad.mit.edu	37	5	13917339	13917339	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:13917339G>A	uc003jfd.2	-	7	1044	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	334	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGCATCAGTGATTCGAATAT	0.378000									Kartagener syndrome					36			19		0	0	0.00152264	0	0
TP53INP1	94241	broad.mit.edu	37	8	95952372	95952372	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:95952372A>G	uc003yhg.3	-	2	573	c.189T>C	c.(187-189)ccT>ccC	p.P63P	TP53INP1_uc003yhh.3_Silent_p.P63P	NM_033285	NP_150601	Q96A56	T53I1_HUMAN	Homo sapiens tumor protein p53 inducible nuclear protein 1 (TP53INP1), transcript variant 1, mRNA.	63					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					AAAAGACTGAAGGGTGCTCAG	0.468000														337			38		0	0	0.00285205	0	0
SBDS	51119	broad.mit.edu	37	7	66456124	66456124	+	Splice_Site	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:66456124G>A	uc003tvm.1	-	4	808	c.624_splice	c.e4+1	p.I208_splice		NM_016038	NP_057122	Q9Y3A5	SBDS_HUMAN	Homo sapiens Shwachman-Bodian-Diamond syndrome (SBDS), mRNA.	208					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|rRNA processing|ribosomal large subunit biogenesis	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|rRNA binding|ribosome binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						TGACTCTTACGATTTCTAACT	0.338000			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome					86			10		0	0	0.000673444	0	0
UACA	55075	broad.mit.edu	37	15	70959232	70959232	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:70959232G>A	uc002asr.3	-	15	3895	c.3791C>T	c.(3790-3792)gCc>gTc	p.A1264V	UACA_uc010uke.2_Missense_Mutation_p.A1155V|UACA_uc002asq.3_Missense_Mutation_p.A1251V|UACA_uc010bin.1_Missense_Mutation_p.A1239V	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	1264						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTTCTTTTTGGCATGCAAAAC	0.353000														89			45		0	0	0.000781405	0	0
ACTBL2	345651	broad.mit.edu	37	5	56778064	56778064	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:56778064C>T	uc003jrm.3	-	0	573	c.471G>A	c.(469-471)ggG>ggA	p.G157G		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	Homo sapiens actin, beta-like 2 (ACTBL2), mRNA.	157						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TGACCCCATCCCCAGAATCCA	0.552000														27			7		0	0	0.00198382	0	0
ODZ4	26011	broad.mit.edu	37	11	78440676	78440676	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:78440676C>T	uc001ozl.4	-	21	3614	c.3151G>A	c.(3151-3153)Gaa>Aaa	p.E1051K		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1051					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						ATAGAGATTTCCTCCTGCAAA	0.582000														40			14		0	0	0.000566183	0	0
UCMA	221044	broad.mit.edu	37	10	13264196	13264196	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:13264196C>T	uc001imd.3	-	4	394	c.324G>A	c.(322-324)caG>caA	p.Q108Q		NM_145314	NP_660357	Q8WVF2	UCMA_HUMAN	Homo sapiens upper zone of growth plate and cartilage matrix associated (UCMA), mRNA.	108						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						TCCTCTCTTCCTGCTCTGGGG	0.622000														18			8		0	0	0.000157383	0	0
SNRPN	6638	broad.mit.edu	37	15	25442574	25442574	+	RNA	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:25442574G>A	uc001yzf.1	+	5		c.569G>A			SNRPN_uc001yzk.1_5'Flank|SNRPN_uc010ayo.1_5'Flank|SNORD115-16_uc001yzm.1_5'Flank			P63162	RSMN_HUMAN	Homo sapiens clone Rt-11 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		CTGGCCCCGGGAAAATGTCCC	0.602000									Prader-Willi syndrome					8			6		0	0	0.00116845	0	0
COL22A1	169044	broad.mit.edu	37	8	139856336	139856336	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:139856336C>T	uc003yvd.3	-	3	1171	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	242	TSP N-terminal.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCTGTGATTTCCTTGGTTCCT	0.478000										HNSCC(7;0.00092)				164			40		0	0	0.000781405	0	0
CNTN1	1272	broad.mit.edu	37	12	41463807	41463807	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:41463807C>T	uc001rmm.1	+	23	3140	c.3027C>T	c.(3025-3027)gcC>gcT	p.A1009A	CNTN1_uc001rmn.1_Silent_p.A998A	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	1009					Notch signaling pathway|axon guidance|cell adhesion	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TGCTGCCTGCCTTTGGCATCC	0.473000														49			15		0	0	0.000308642	0	0
PRPF4B	8899	broad.mit.edu	37	6	4042723	4042723	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:4042723T>C	uc003mvv.3	+	4	1662	c.1571T>C	c.(1570-1572)cTt>cCt	p.L524P	PRPF4B_uc003mvw.3_Non-coding_Transcript|PRPF4B_uc011dhv.1_Non-coding_Transcript	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA.	524						catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TCTTTAAGCCTTGAAGACTTT	0.338000														103			14		0	0	0.000422831	0	0
MARCH6	10299	broad.mit.edu	37	5	10381949	10381949	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:10381949A>G	uc003jet.1	+	3	411	c.228A>G	c.(226-228)caA>caG	p.Q76Q	MARCH6_uc011cmu.1_Intron|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Intron	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	76					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding	p.I75F(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						TTCCAATTCAAGACATATTTG	0.363000														194			33		0	0	0.0024448	0	0
NBPF3	84224	broad.mit.edu	37	1	21798081	21798081	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:21798081C>T	uc001ber.3	+	4	816	c.466C>T	c.(466-468)Cac>Tac	p.H156Y	NBPF3_uc001bes.3_Missense_Mutation_p.H100Y|NBPF3_uc009vqb.3_Missense_Mutation_p.H156Y|NBPF3_uc010odm.2_Missense_Mutation_p.H86Y	NM_032264	NP_115640	Q9H094	NBPF3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 3 (NBPF3), transcript variant 1, mRNA.	156						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGTCCTGGTTCACTCTCAGGA	0.453000														123			18		0	0	0.00152264	0	0
STH	246744	broad.mit.edu	37	17	44076766	44076766	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:44076766C>T	uc002ijy.2	+	0	151	c.121C>T	c.(121-123)Cag>Tag	p.Q41*	MAPT_uc010dau.3_Intron|MAPT_uc002ijr.4_Intron|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron	NM_001007532	NP_001007533	Q8IWL8	STH_HUMAN	Homo sapiens saitohin (STH), mRNA.	41						cytoplasm|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GTGGATGATTCAGGTTGCCAG	0.522000														47			11		0	0	0.000308642	0	0
GABRP	2568	broad.mit.edu	37	5	170222313	170222313	+	Silent	SNP	C	T	T	rs149165781		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:170222313C>T	uc003mau.3	+	4	540	c.342C>T	c.(340-342)ttC>ttT	p.F114F	GABRP_uc011dev.2_Silent_p.F114F	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	114						cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCGTGGAGTTCCTCTGGGTGC	0.552000														55			14		0	0	0.000422831	0	0
DLEC1	9940	broad.mit.edu	37	3	38136470	38136470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:38136470G>A	uc003chp.1	+	12	2041	c.2020G>A	c.(2020-2022)Gac>Aac	p.D674N	DLEC1_uc003cho.1_Missense_Mutation_p.D674N|DLEC1_uc010hgv.1_Missense_Mutation_p.D674N|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_5'Flank|DLEC1_uc003chq.1_Intron	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	674					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GTGCTACCCCGACAAGGAGAC	0.552000														28			8		0	0	0.000157383	0	0
MSRA	4482	broad.mit.edu	37	8	10285727	10285727	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:10285727G>A	uc003wsx.3	+	5	810	c.613G>A	c.(613-615)Gaa>Aaa	p.E205K	MSRA_uc011kwx.2_Missense_Mutation_p.E165K|MSRA_uc003wsy.3_Missense_Mutation_p.E139K|MSRA_uc003wsz.3_Missense_Mutation_p.E162K	NM_012331	NP_001186658	Q9UJ68	MSRA_HUMAN	Homo sapiens methionine sulfoxide reductase A (MSRA), transcript variant 1, mRNA.	205					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	CTACTATGCGGAAGACTACCA	0.557000														8			25		0	0	0.00106085	0	0
ASB4	51666	broad.mit.edu	37	7	95157196	95157196	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:95157196C>T	uc011kij.2	+	2	630	c.559C>T	c.(559-561)Ctt>Ttt	p.L187F	ASB4_uc003unx.3_Missense_Mutation_p.L187F	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 4 (ASB4), transcript variant 1, mRNA.	187					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			CCACTTCGGCCTTTCGGAGCT	0.572000											OREG0018172	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		59			7		0	0	0.000157383	0	0
ULK1	8408	broad.mit.edu	37	12	132400954	132400954	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:132400954C>T	uc001uje.3	+	19	2158	c.1890C>T	c.(1888-1890)tcC>tcT	p.S630S		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	630					autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CTGTGCCCTCCTTTGACTTCC	0.692000														30			9		0	0	0.00136819	0	0
MLL5	55904	broad.mit.edu	37	7	104753447	104753447	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:104753447A>G	uc003vcm.3	+	26	5778	c.5244A>G	c.(5242-5244)ccA>ccG	p.P1748P	MLL5_uc010ljc.3_Silent_p.P1748P|MLL5_uc010ljf.1_Intron|MLL5_uc010ljg.3_Silent_p.P482P	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	1748	Pro-rich.				DNA methylation|cell cycle arrest|cellular response to retinoic acid|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						AAGGACCTCCACTTTTTCCTT	0.562000														87			11		0	0	0.000308642	0	0
SCN5A	6331	broad.mit.edu	37	3	38592526	38592526	+	Silent	SNP	C	T	T	rs41311121		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:38592526C>T	uc021wvo.1	-	26	5389	c.5337G>A	c.(5335-5337)acG>acA	p.T1779T	SCN5A_uc021wvk.1_Silent_p.T1746T|SCN5A_uc021wvl.1_Silent_p.T1725T|SCN5A_uc021wvm.1_Silent_p.T1761T|SCN5A_uc021wvn.1_Silent_p.T1778T|SCN5A_uc021wvp.1_Silent_p.T1779T|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.T1591T|SCN5A_uc021wvi.1_Silent_p.T1645T	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1779					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)	TGCTCTCCTCCGTGGCCACGC	0.512000														38			13		0	0	0.000566183	0	0
AFAP1	60312	broad.mit.edu	37	4	7820830	7820830	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:7820830G>A	uc011bwk.1	-	6	1068	c.795C>T	c.(793-795)tcC>tcT	p.S265S	AFAP1_uc003gkg.1_Silent_p.S265S	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	265						actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TGTGCACCGGGGAGCTTGGTG	0.522000														26			7		0	0	0.000157383	0	0
KCNB2	9312	broad.mit.edu	37	8	73848772	73848772	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:73848772G>A	uc003xzb.3	+	2	1770	c.1182G>A	c.(1180-1182)ggG>ggA	p.G394G		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	394					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.L393L(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CATTACTAGGGAAAATTGTGG	0.438000														64			34		0	0	0.00128727	0	0
SLC15A2	6565	broad.mit.edu	37	3	121630466	121630466	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:121630466C>T	uc003eep.2	+	3	534	c.381C>T	c.(379-381)atC>atT	p.I127I	SLC15A2_uc011bjn.1_Intron	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	127					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GCCATGTGATCAAGTCCTTGG	0.403000														40			6		0	0	0.000157383	0	0
PRB1	5542	broad.mit.edu	37	12	11506683	11506683	+	Silent	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:11506683T>A	uc001qzw.1	-	2	391	c.354A>T	c.(352-354)ccA>ccT	p.P118P	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	118	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region		p.K117R(2)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GTGGTCCTTGTGGCTTTCCTG	0.607000														126			14		0	0	0.000566183	0	0
SLCO5A1	81796	broad.mit.edu	37	8	70617364	70617364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:70617364C>T	uc003xyl.3	-	5	2231	c.1524G>A	c.(1522-1524)atG>atA	p.M508I	SLCO5A1_uc010lzb.3_Missense_Mutation_p.M453I|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Missense_Mutation_p.M508I|SLCO5A1_uc010lzc.2_Missense_Mutation_p.M453I	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	508						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CACTGCAGATCATTGCTAGTT	0.403000														71			11		0	0	0.00136819	0	0
PCLO	27445	broad.mit.edu	37	7	82582551	82582551	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:82582551G>A	uc003uhx.2	-	4	8007	c.7718C>T	c.(7717-7719)tCc>tTc	p.S2573F	PCLO_uc003uhv.2_Missense_Mutation_p.S2573F|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2504					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						GAGGGATTTGGAAAATCTTGG	0.423000														58			103		0	0	0.000781405	0	0
MCTP1	79772	broad.mit.edu	37	5	94230510	94230510	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:94230510C>T	uc003kkx.2	-	10	1683	c.1683G>A	c.(1681-1683)agG>agA	p.R561R	MCTP1_uc003kkv.2_Silent_p.R340R|MCTP1_uc003kkw.2_Silent_p.R294R|MCTP1_uc003kkz.2_Silent_p.R222R|MCTP1_uc003kku.2_Silent_p.R77R	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	561					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GCGTCTGTTCCCTACTGAGGG	0.502000														26			10		0	0	0.00136819	0	0
MYH11	4629	broad.mit.edu	37	16	15851813	15851813	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:15851813C>T	uc002ddx.3	-	13	1574	c.1467G>A	c.(1465-1467)aaG>aaA	p.K489K	MYH11_uc002ddv.3_Silent_p.K489K|MYH11_uc002ddw.3_Silent_p.K482K|MYH11_uc002ddy.3_Silent_p.K482K|MYH11_uc010bvg.3_Silent_p.K314K|MYH11_uc002dea.1_Silent_p.K188K	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	482	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCTGCTGCAGCTTCTCGTTGG	0.562000			T	CBFB	AML									49			9		0	0	0.000978159	0	0
LIN54	132660	broad.mit.edu	37	4	83858424	83858424	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:83858424C>T	uc003hnx.3	-	8	1938	c.1560G>A	c.(1558-1560)cgG>cgA	p.R520R	LIN54_uc003hnz.3_Silent_p.R299R|LIN54_uc003hny.3_Silent_p.R119R|LIN54_uc010ijt.2_Silent_p.R431R|LIN54_uc010iju.2_Silent_p.R119R|LIN54_uc010ijv.2_Silent_p.R299R	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	Homo sapiens lin-54 homolog (C. elegans) (LIN54), transcript variant 1, mRNA.	520	CXC 1.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				GCTTTCGGGGCCGACTGGCCG	0.313000														133			31		0	0	0.000692331	0	0
MACC1	346389	broad.mit.edu	37	7	20198624	20198624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:20198624C>T	uc003sus.4	-	4	1669	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K	MACC1_uc010kug.3_Missense_Mutation_p.E454K	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	454					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TGTTTAATTTCTTTCCTTTCT	0.338000														32			6		0	0	0.00116845	0	0
ATG9A	79065	broad.mit.edu	37	2	220088458	220088458	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:220088458G>A	uc002vke.1	-	9	1634	c.1448C>T	c.(1447-1449)cCc>cTc	p.P483L	ATG9A_uc002vkd.1_Non-coding_Transcript|ATG9A_uc002vkf.1_Missense_Mutation_p.P483L	NM_001077198	NP_076990	Q7Z3C6	ATG9A_HUMAN	Homo sapiens ATG9 autophagy related 9 homolog A (S. cerevisiae) (ATG9A), transcript variant 1, mRNA.	483					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)		TGTGACAATGGGGCTCAGCAA	0.577000														39			9		0	0	0.000442599	0	0
ZFHX4	79776	broad.mit.edu	37	8	77616914	77616914	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:77616914C>T	uc003yau.2	+	1	978	c.591C>T	c.(589-591)atC>atT	p.I197I	ZFHX4_uc003yat.1_Silent_p.I197I|ZFHX4_uc003yaw.1_Silent_p.I197I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	197						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)			CTTTTCATATCGCTTCATCCC	0.493000										HNSCC(33;0.089)				33			5		0	0	0.00116845	0	0
FCRL4	83417	broad.mit.edu	37	1	157557143	157557143	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:157557143C>T	uc001fqw.3	-	4	906	c.770G>A	c.(769-771)gGa>gAa	p.G257E	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	257	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				CCAATAGGATCCTGAGTTTTC	0.537000														94			30		0	0	0.00209593	0	0
SCCPDH	51097	broad.mit.edu	37	1	246907403	246907403	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:246907403C>T	uc001ibr.3	+	4	887	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_016002	NP_057086	Q8NBX0	SCPDH_HUMAN	Homo sapiens saccharopine dehydrogenase (putative) (SCCPDH), mRNA.	180						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		TGGAAAGTTTCCTGACTATAC	0.294000														180			30		0	0	0.00058488	0	0
FCRLA	84824	broad.mit.edu	37	1	161683078	161683078	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:161683078G>A	uc001gbe.3	+	5	1299	c.1057G>A	c.(1057-1059)Gat>Aat	p.D353N	FCRLA_uc001gbg.3_Missense_Mutation_p.D207N|FCRLA_uc009wup.3_Missense_Mutation_p.D163N|FCRLA_uc009wuq.3_Missense_Mutation_p.D112N|FCRLA_uc001gbd.3_Missense_Mutation_p.D347N|FCRLA_uc001gbf.3_Missense_Mutation_p.D258N|FCRLA_uc009wuo.3_Missense_Mutation_p.D213N	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.	330					cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ACACATGCAGGATGTGAGAGT	0.522000														39			8		0	0	0.000274275	0	0
CNTNAP2	26047	broad.mit.edu	37	7	148112653	148112653	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:148112653A>G	uc003weu.2	+	23	4457	c.3941A>G	c.(3940-3942)aAc>aGc	p.N1314S	CNTNAP2_uc003wev.2_Missense_Mutation_p.N91S	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1314					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			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)			ATCATGAACAACGACCCCAAC	0.542000										HNSCC(39;0.1)				64			9		0	0	0.000442599	0	0
IL10RA	3587	broad.mit.edu	37	11	117869645	117869645	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:117869645C>T	uc001prv.3	+	6	1103	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	IL10RA_uc010rxl.2_Silent_p.P322P|IL10RA_uc010rxm.2_Silent_p.P322P|IL10RA_uc010rxn.2_Silent_p.P193P|IL10RA_uc001prw.3_Silent_p.P193P	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	342						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		ACCCTCACCCCCAGGCTGACA	0.622000														18			4		0	0	0.00024832	0	0
TARBP1	6894	broad.mit.edu	37	1	234569302	234569302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:234569302G>A	uc001hwd.3	-	13	2248	c.2248C>T	c.(2248-2250)Cgt>Tgt	p.R750C		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	750					RNA processing|regulation of transcription from RNA polymerase II promoter	nucleus	RNA binding|RNA methyltransferase activity	p.R750S(2)|p.R750H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AAATGGCAACGATCCAGATCT	0.393000														55			6		0	0	0.00198382	0	0
RINT1	60561	broad.mit.edu	37	7	105187477	105187477	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:105187477C>T	uc003vda.1	+	4	867	c.636C>T	c.(634-636)ttC>ttT	p.F212F	RINT1_uc010ljj.1_Intron	NM_021930	NP_068749	Q6NUQ1	RINT1_HUMAN	Homo sapiens RAD50 interactor 1 (RINT1), mRNA.	212					G2/M transition DNA damage checkpoint|cell cycle|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TTCTTGGTTTCATGAGAGCCA	0.403000														128			17		0	0	0.000566183	0	0
MUC16	94025	broad.mit.edu	37	19	8994501	8994501	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:8994501G>A	uc002mkp.3	-	63	41595	c.41391C>T	c.(41389-41391)ttC>ttT	p.F13797F	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.F614F|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13799	SEA 12.			Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.F13797F(1)		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						TAGTGATGGTGAAGTTGAGGG	0.483000														48			7		0	0	0.00198382	0	0
PSMD13	5719	broad.mit.edu	37	11	244428	244428	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:244428C>T	uc001loo.2	+	2	516	c.274C>T	c.(274-276)Cct>Tct	p.P92S	PSMD13_uc010qvr.1_Non-coding_Transcript|PSMD13_uc001lol.2_Missense_Mutation_p.P90S|PSMD13_uc001lon.2_Missense_Mutation_p.P25S	NM_175932	NP_787128	Q9UNM6	PSD13_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 13 (PSMD13), transcript variant 2, mRNA.	90					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			NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		TTTTCCAGATCCTAATGTGGC	0.398000														62			15		0	0	0.00074312	0	0
MMRN2	79812	broad.mit.edu	37	10	88703301	88703301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:88703301C>T	uc001kea.3	-	5	1367	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K	MMRN2_uc010qmn.2_Missense_Mutation_p.E57K|MMRN2_uc009xtb.2_Missense_Mutation_p.E371K	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	414						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						GAGTACAGTTCCTTGATCTCA	0.612000														35			21		0	0	0.00278032	0	0
ARHGEF3	50650	broad.mit.edu	37	3	56763334	56763334	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:56763334G>A	uc003dih.2	-	12	1751	c.1641C>T	c.(1639-1641)tcC>tcT	p.S547S	ARHGEF3_uc011bew.1_Silent_p.S515S|ARHGEF3_uc011bev.1_Silent_p.S486S|ARHGEF3_uc003dif.2_Silent_p.S521S|ARHGEF3_uc003dig.2_Silent_p.S515S|ARHGEF3_uc010hmy.1_Silent_p.S313S	NM_001128615	NP_001122087	Q9NR81	ARHG3_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 3 (ARHGEF3), transcript variant 1, mRNA.	515					Rho protein signal transduction|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		TGTTTCCACAGGAAGAGTCTG	0.512000														45			16		0	0	0.000958276	0	0
EFCAB1	79645	broad.mit.edu	37	8	49643123	49643123	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:49643123C>T	uc003xqo.2	-	2	455	c.295G>A	c.(295-297)Gga>Aga	p.G99R	EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Missense_Mutation_p.G47R|EFCAB1_uc010lxx.2_Non-coding_Transcript|EFCAB1_uc011ldk.1_Non-coding_Transcript	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	Homo sapiens EF-hand calcium binding domain 1 (EFCAB1), transcript variant 1, mRNA.	99	EF-hand 1.						calcium ion binding			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TCCAAAGATCCTCGAAGAAAC	0.338000														54			7		0	0	0.000673444	0	0
ABCB5	340273	broad.mit.edu	37	7	20721180	20721180	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:20721180G>A	uc010kuh.3	+	14	1997	c.1760G>A	c.(1759-1761)cGa>cAa	p.R587Q	ABCB5_uc003suw.4_Missense_Mutation_p.R142Q	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	142	ABC transporter 2.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	p.R142Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TCTACTATTCGAAGTGCAGAT	0.403000														60			9		0	0	0.000274275	0	0
C15orf2	23742	broad.mit.edu	37	15	24923762	24923762	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:24923762G>A	uc001ywo.3	+	0	3222	c.2748G>A	c.(2746-2748)ctG>ctA	p.L916L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	916					cell differentiation|multicellular organismal development|spermatogenesis			p.L916M(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CTTTTATTCTGGGGAATCCAG	0.478000														64			34		0	0	0.000692331	0	0
PRAMEF10	343071	broad.mit.edu	37	1	12954863	12954863	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:12954863C>T	uc001auo.3	-	2	493	c.420G>A	c.(418-420)agG>agA	p.R140R		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	140										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCTCCCATCCTTGGACAGT	0.517000														21			22		0	0	0.00278032	0	0
PGD	5226	broad.mit.edu	37	1	10460536	10460536	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:10460536C>T	uc001arc.3	+	2	261	c.171C>T	c.(169-171)tcC>tcT	p.S57S	PGD_uc010oak.2_Silent_p.S57S	NM_002631	NP_002622	P52209	6PGD_HUMAN	Homo sapiens phosphogluconate dehydrogenase (PGD), mRNA.	57					pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		GTGCCCAGTCCCTGAAAGAGA	0.502000														41			31		0	0	0.00209593	0	0
WASF3	10810	broad.mit.edu	37	13	27256818	27256818	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:27256818C>T	uc001uqv.3	+	8	1283	c.1058C>T	c.(1057-1059)cCc>cTc	p.P353L	WASF3_uc001uqw.3_Missense_Mutation_p.P350L	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	353					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CCTGTGATTCCCTCAGCACAA	0.592000														46			15		0	0	0.000308642	0	0
LRP1B	53353	broad.mit.edu	37	2	141130628	141130628	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:141130628C>T	uc002tvj.1	-	68	11689	c.10717G>A	c.(10717-10719)Gat>Aat	p.D3573N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3573	LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.C3572Y(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATGGCCATCACATTTCCAT	0.363000										TSP Lung(27;0.18)				43			13		0	0	0.00185496	0	0
SLC46A3	283537	broad.mit.edu	37	13	29284912	29284912	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:29284912G>A	uc001usj.3	-	3	1671	c.1129C>T	c.(1129-1131)Cgt>Tgt	p.R377C	SLC46A3_uc001usg.3_Missense_Mutation_p.R302C|SLC46A3_uc001usi.3_Missense_Mutation_p.R377C|SLC46A3_uc001ush.3_Missense_Mutation_p.R377C|SLC46A3_uc001usk.3_3'UTR	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	377					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)		TCAGTCGAACGAACCACTTTT	0.388000														79			16		0	0	0.000566183	0	0
OR12D2	26529	broad.mit.edu	37	6	29364563	29364563	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:29364563C>T	uc003nmf.4	+	0	148	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TCGTGGTTTTCCTCACCATCT	0.448000														85			11		0	0	0.00136819	0	0
CHD1L	9557	broad.mit.edu	37	1	146727493	146727493	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:146727493A>G	uc001epm.4	+	3	436	c.373A>G	c.(373-375)Aca>Gca	p.T125A	CHD1L_uc001epn.4_Missense_Mutation_p.T12A|CHD1L_uc010ozo.2_Non-coding_Transcript|CHD1L_uc009wjg.3_Non-coding_Transcript|CHD1L_uc009wjh.3_Missense_Mutation_p.T125A|CHD1L_uc010ozp.2_Intron|CHD1L_uc001epo.4_Intron	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1-like (CHD1L), transcript variant 1, mRNA.	125	Helicase ATP-binding.				DNA repair|chromatin remodeling	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TTCCTGTGTAACATATGCAGG	0.418000														26			10		0	0	0.00244969	0	0
EPHA6	285220	broad.mit.edu	37	3	96706780	96706780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:96706780C>T	uc010how.1	+	2	1100	c.1057C>T	c.(1057-1059)Cct>Tct	p.P353S	EPHA6_uc003drp.1_Missense_Mutation_p.P353S	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	258	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			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						TTGGCTGGTTCCTCTTGGAAG	0.413000														41			14		0	0	0.000422831	0	0
DPYD	1806	broad.mit.edu	37	1	98060651	98060651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:98060651C>T	uc001drv.3	-	8	1059	c.922G>A	c.(922-924)Gac>Aac	p.D308N		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	308					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity	p.D308V(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	GGCAAAAAGTCTTTGGATGTA	0.333000														61			25		0	0	0.0024448	0	0
DNMT3B	1789	broad.mit.edu	37	20	31395599	31395599	+	Missense_Mutation	SNP	G	A	A	rs121908940		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:31395599G>A	uc002wyc.3	+	22	2773	c.2452G>A	c.(2452-2454)Gtg>Atg	p.V818M	DNMT3B_uc002wyd.3_Missense_Mutation_p.V798M|DNMT3B_uc002wye.3_Missense_Mutation_p.V735M|DNMT3B_uc010ztz.2_Missense_Mutation_p.V693M|DNMT3B_uc010zua.2_Missense_Mutation_p.V659M|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Missense_Mutation_p.V810M|DNMT3B_uc002wyg.3_Missense_Mutation_p.V454M|DNMT3B_uc010geg.3_Missense_Mutation_p.R77H|DNMT3B_uc010geh.3_Non-coding_Transcript	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	818			V -> M (in ICF).		negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTACACAGACGTGTCCAACAT	0.582000														77			22		0	0	0.00188189	0	0
MUC16	94025	broad.mit.edu	37	19	9011397	9011397	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9011397C>T	uc002mkp.3	-	35	39040	c.38836G>A	c.(38836-38838)Gag>Aag	p.E12946K	MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12948	SEA 6.				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						TGGCTCAGCTCCCAGTACAGC	0.562000														58			7		0	0	0.000274275	0	0
BPIFB4	149954	broad.mit.edu	37	20	31671441	31671441	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:31671441G>A	uc010zue.2	+	2	453	c.438G>A	c.(436-438)agG>agA	p.R146R		NM_182519	NP_872325	P59827	LPLC4_HUMAN	Homo sapiens BPI fold containing family B, member 4 (BPIFB4), mRNA.	146	Gly-rich.					cytoplasm|extracellular region	lipid binding										CTGTGGGCAGGCTTCACCGGC	0.642000														42			10		0	0	0.000978159	0	0
AAK1	22848	broad.mit.edu	37	2	69736437	69736437	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:69736437G>A	uc002sfp.2	-	13	2437	c.1932C>T	c.(1930-1932)gtC>gtT	p.V644V	AAK1_uc010fdk.2_Silent_p.V644V|AAK1_uc010yqm.1_Silent_p.V645V	NM_014911	NP_055726	Q2M2I8	AAK1_HUMAN	Homo sapiens AP2 associated kinase 1 (AAK1), mRNA.	644						coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						GGACCCCAAAGACTGCACTGT	0.547000														34			10		0	0	0.00136819	0	0
FAT3	120114	broad.mit.edu	37	11	92600363	92600363	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:92600363C>T	uc001pdj.4	+	20	12132	c.12115C>T	c.(12115-12117)Ctg>Ttg	p.L4039L	FAT3_uc001pdi.4_Silent_p.L479L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4039	EGF-like 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGCACTGGCCTGCCATCGGG	0.682000										TCGA Ovarian(4;0.039)				6			6		0	0	0.000157383	0	0
PDYN	5173	broad.mit.edu	37	20	1961226	1961227	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:1961226_1961227CC>TT	uc010gaj.3	-	2	749_750	c.507_508GG>AA	c.(505-510)aaggag>aaAAag	p.E170K	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.E170K|PDYN_uc021vzt.1_Missense_Mutation_p.E170K|PDYN_uc021vzu.1_Missense_Mutation_p.E170K|PDYN_uc002wfv.3_Missense_Mutation_p.E170K	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	170					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTGACCTGCTCCTTGGGGTCCT	0.594000														38			10		0	0	6.4e-05	0	0
SPTA1	6708	broad.mit.edu	37	1	158589113	158589113	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:158589113C>T	uc001fst.1	-	44	6628	c.6429G>A	c.(6427-6429)caG>caA	p.Q2143Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2143					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)					TTTGCAGCTCCTGCTCCCGTT	0.453000														75			13		0	0	0.00244969	0	0
COL28A1	340267	broad.mit.edu	37	7	7493093	7493093	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:7493093C>T	uc003src.1	-	16	1535	c.1418G>A	c.(1417-1419)gGa>gAa	p.G473E	COL28A1_uc011jxe.1_Missense_Mutation_p.G156E|COL28A1_uc003srd.3_Missense_Mutation_p.G28E	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	473					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TAAGCCCTGTCCTGCGGGCCC	0.393000														125			17		0	0	0.00152264	0	0
RP1	6101	broad.mit.edu	37	8	55540397	55540397	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:55540397G>A	uc003xsd.1	+	3	4103	c.3955G>A	c.(3955-3957)Gag>Aag	p.E1319K	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1319					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGCTCAAAAGGAGAACCATAC	0.403000														114			13		0	0	0.000308642	0	0
MCC	4163	broad.mit.edu	37	5	112406831	112406831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:112406831C>T	uc003kql.4	-	11	2301	c.1885G>A	c.(1885-1887)Gaa>Aaa	p.E629K	MCC_uc003kqj.4_Missense_Mutation_p.E439K|MCC_uc003kqk.4_Non-coding_Transcript|MCC_uc011cwb.1_Missense_Mutation_p.E439K|MCC_uc010jcd.1_Missense_Mutation_p.E401K	NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	439					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GCATTGGATTCGTATTTTCCC	0.507000														76			24		0	0	0.000586117	0	0
PRKCA	5578	broad.mit.edu	37	17	64734924	64734924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:64734924C>T	uc002jfo.1	+	11	1378	c.886C>T	c.(886-888)Ctc>Ttc	p.L296F	PRKCA_uc002jfp.1_Missense_Mutation_p.L425F			P17252	KPCA_HUMAN	Homo sapiens protein kinase C, alpha (PRKCA), mRNA.	425					activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CGGTGGGGACCTCATGTACCA	0.453000														48			11		0	0	0.000673444	0	0
PPP2R3A	5523	broad.mit.edu	37	3	135721467	135721467	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:135721467C>T	uc003eqv.2	+	1	1744	c.1127C>T	c.(1126-1128)tCc>tTc	p.S376F	PPP2R3A_uc011blz.2_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.	376					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCCACAAATTCCTTATATAAC	0.363000														18			14		0	0	0.000308642	0	0
OPN5	221391	broad.mit.edu	37	6	47776108	47776108	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:47776108G>A	uc003ozc.3	+	4	1003	c.975G>A	c.(973-975)aaG>aaA	p.K325K	OPN5_uc003ozd.3_Silent_p.K160K	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	Homo sapiens opsin 5 (OPN5), transcript variant 1, mRNA.	325					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						AAGCAACCAAGAAGAAGTCTC	0.413000														92			13		0	0	0.00244969	0	0
DRD4	1815	broad.mit.edu	37	11	639793	639793	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:639793C>T	uc001lqp.2	+	2	544	c.544C>T	c.(544-546)Ccc>Tcc	p.P182S		NM_000797	NP_000788	P21917	DRD4_HUMAN	Homo sapiens dopamine receptor D4 (DRD4), mRNA.	182					activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of cAMP biosynthetic process|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior	integral to plasma membrane	SH3 domain binding|dopamine D4 receptor activity|drug binding|potassium channel regulator activity			NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246)	CGGCCGCGACCCCGCCGTGTG	0.716000														15			4		0	0	0.000602214	0	0
HIST1H4G	8369	broad.mit.edu	37	6	26247194	26247194	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:26247194C>T	uc003nhf.3	-	0	12	c.12G>A	c.(10-12)cgG>cgA	p.R4R		NM_003547	NP_003538	Q99525	H4G_HUMAN	Homo sapiens histone cluster 1, H4g (HIST1H4G), mRNA.	4					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CGGCCTTGCCCCGAACAGACA	0.468000														60			8		0	0	0.000978159	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767954	77767954	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:77767954C>T	uc003yau.2	+	9	9184	c.8797C>T	c.(8797-8799)Cga>Tga	p.R2933*	ZFHX4_uc003yaw.1_Nonsense_Mutation_p.R2888*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2888						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)			CAAGCGTTTTCGAACGCAAAT	0.468000										HNSCC(33;0.089)				48			9		0	0	0.000274275	0	0
MYO7B	4648	broad.mit.edu	37	2	128346114	128346114	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:128346114G>A	uc002top.3	+	14	1891	c.1838G>A	c.(1837-1839)gGa>gAa	p.G613E		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	613	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)		GCAAAGGCAGGAAACCATCTC	0.527000														38			14		0	0	0.00074312	0	0
HIVEP3	59269	broad.mit.edu	37	1	42050193	42050193	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:42050193G>A	uc001cgz.4	-	3	1489	c.276C>T	c.(274-276)atC>atT	p.I92I	HIVEP3_uc001cha.4_Silent_p.I92I|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	92					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GAAGCTGTGAGATGTGGACGG	0.597000														100			31		0	0	0.000953801	0	0
INTS8	55656	broad.mit.edu	37	8	95871818	95871819	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:95871818_95871819CC>AA	uc003yhb.3	+	15	2160_2161	c.2034_2035CC>AA	c.(2032-2037)ctccaa>ctAAaa	p.Q679K	INTS8_uc003yha.1_Missense_Mutation_p.Q679K|INTS8_uc011lgq.2_Non-coding_Transcript|INTS8_uc011lgr.2_Non-coding_Transcript|INTS8_uc010mba.3_Missense_Mutation_p.Q506K	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	679					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					ACCTTACACTCCAAGTTCCTGC	0.312000														740			18		0	0	6.4e-05	0	0
COL5A3	50509	broad.mit.edu	37	19	10077065	10077065	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:10077065C>T	uc002mmq.1	-	63	4793	c.4707G>A	c.(4705-4707)cgG>cgA	p.R1569R		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	1569	Fibrillar collagen NC1.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TGAACGAGTCCCGCGCGCAGC	0.617000														15			5		0	0	0.00198382	0	0
ZNF534	147658	broad.mit.edu	37	19	52941692	52941692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:52941692G>A	uc002pzk.3	+	3	1085	c.1018G>A	c.(1018-1020)Gat>Aat	p.D340N	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Missense_Mutation_p.D327N	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						GAAACCTTATGATTGTAAGGA	0.413000														10			6		0	0	0.00198382	0	0
TATDN2	9797	broad.mit.edu	37	3	10312065	10312065	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:10312065G>A	uc011atr.2	+	3	1780	c.1199G>A	c.(1198-1200)aGc>aAc	p.S400N	TATDN2_uc003bvg.2_Missense_Mutation_p.S400N|TATDN2_uc003bvf.3_Missense_Mutation_p.S400N|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	400						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						TCCACAGGCAGCAGCAGCAAC	0.552000														49			14		0	0	0.000308642	0	0
LRRC49	54839	broad.mit.edu	37	15	71305224	71305224	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:71305224C>T	uc010ukf.2	+	13	1996	c.1690C>T	c.(1690-1692)Cgt>Tgt	p.R564C	LRRC49_uc002asu.3_Missense_Mutation_p.R549C|LRRC49_uc002asx.3_Missense_Mutation_p.R515C|LRRC49_uc002asw.3_Missense_Mutation_p.R559C|LRRC49_uc002asy.3_Missense_Mutation_p.R265C|LRRC49_uc002asz.3_Missense_Mutation_p.R531C	NM_001199017	NP_001185946	Q8IUZ0	LRC49_HUMAN	Homo sapiens leucine rich repeat containing 49 (LRRC49), transcript variant 1, mRNA.	559						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ACCCCAGTATCGTCTGATTTC	0.363000														60			9		0	0	0.000442599	0	0
ZNF536	9745	broad.mit.edu	37	19	30935412	30935412	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:30935412C>T	uc002nsu.1	+	1	1081	c.943C>T	c.(943-945)Ctc>Ttc	p.L315F	ZNF536_uc010edd.1_Missense_Mutation_p.L315F	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGAGGAGGAGCTCATCAGCCA	0.647000														61			17		0	0	0.00121646	0	0
ADCY5	111	broad.mit.edu	37	3	123014946	123014946	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:123014946G>A	uc003egh.2	-	16	3048	c.3048C>T	c.(3046-3048)ttC>ttT	p.F1016F	ADCY5_uc021xdd.1_Silent_p.F666F|ADCY5_uc003egg.2_Silent_p.F674F	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	1016					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|adenylate cyclase activity|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GTTTCCAGAGGAAGTCGAGGC	0.642000														16			4		0	0	0.00116845	0	0
AHCYL1	10768	broad.mit.edu	37	1	110561083	110561083	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:110561083C>T	uc001dyx.3	+	11	1500	c.1212C>T	c.(1210-1212)atC>atT	p.I404I	AHCYL1_uc010ovw.2_Silent_p.I357I|AHCYL1_uc021ork.1_Silent_p.I357I|AHCYL1_uc010ovx.2_Silent_p.I357I|AHCYL1_uc001dyy.3_Silent_p.I357I	NM_006621	NP_001229605	O43865	SAHH2_HUMAN	Homo sapiens adenosylhomocysteinase-like 1 (AHCYL1), transcript variant 1, mRNA.	404	NAD binding (By similarity).				one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity	p.I404I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		ACACAGAAATCGATGTGGTAA	0.413000														23			7		0	0	0.000157383	0	0
KIR3DL2	3812	broad.mit.edu	37	19	55324663	55324663	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:55324663C>T	uc010yfl.2	+	5	817	c.784C>T	c.(784-786)Cgc>Tgc	p.R262C	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Intron|KIR3DL2_uc002qhf.3_Intron|KIR3DL2_uc002qhg.3_Intron|KIR3DL2_uc002qhi.3_Missense_Mutation_p.R247C|KIR3DL2_uc021vbn.1_Missense_Mutation_p.R264C|KIR3DL2_uc002qhh.3_Intron|KIR3DL2_uc002qhj.3_Intron|KIR3DL2_uc010esd.3_Intron|KIR3DL2_uc010ese.3_Non-coding_Transcript	NM_002255	NP_002246	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.	362	Ig-like C2-type 3.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TCTCCTTCATCGCTGGTGCTC	0.532000														29			10		0	0	0.000673444	0	0
LAMB4	22798	broad.mit.edu	37	7	107717394	107717394	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:107717394C>T	uc010ljo.1	-	16	2203	c.2119G>A	c.(2119-2121)Gac>Aac	p.D707N	LAMB4_uc003vey.2_Missense_Mutation_p.D707N	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	707	Laminin IV type B.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTTACAGAGTCCACCAGGACA	0.388000														144			12		0	0	0.00136819	0	0
NEB	4703	broad.mit.edu	37	2	152346486	152346487	+	Splice_Site	DNP	CC	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:152346486_152346487CC>AA	uc021vrb.1	-	147	19865	c.19836_splice	c.e147+1	p.G6612_splice	NEB_uc002txr.3_Splice_Site_p.G2985_splice|NEB_uc002txu.3_Splice_Site_p.G8468_splice|NEB_uc021vrc.1_Splice_Site_p.G8468_splice|NEB_uc010fnx.3_Splice_Site_p.G6600_splice|NEB_uc021vrd.1_Splice_Site_p.G6612_splice|RIF1_uc002txp.3_Intron|NEB_uc010zbz.2_Splice_Site_p.G381_splice|NEB_uc002txq.3_Splice_Site_p.G491_splice|NEB_uc010zca.2_Splice_Site_p.G443_splice|NEB_uc010zcb.2_Splice_Site_p.G381_splice	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	6612	Interaction with SVIL.|SH3.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCACTTACTCCAGCAGTAGAT	0.351000														154			9		0	0	6.4e-05	0	0
LIFR	3977	broad.mit.edu	37	5	38490359	38490359	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:38490359G>A	uc010ive.1	-	14	2432	c.2100C>T	c.(2098-2100)ttC>ttT	p.F700F	LIFR_uc003jli.2_Silent_p.F700F	NM_001127671	NP_002301	P42702	LIFR_HUMAN	Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA.	700	Fibronectin type-III 5.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATCCATACAGGAAAAAATTAT	0.289000			T	PLAG1	salivary adenoma									155			22		0	0	0.00278032	0	0
SCN2B	6327	broad.mit.edu	37	11	118037638	118037638	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:118037638C>T	uc001psf.2	-	3	803	c.612G>A	c.(610-612)acG>acA	p.T204T		NM_004588	NP_004579	O60939	SCN2B_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, beta (SCN2B), mRNA.	204					synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		CTTCACCGTCCGTCTTGCCCT	0.602000														54			11		0	0	0.00185496	0	0
FIGNL1	63979	broad.mit.edu	37	7	50513288	50513288	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:50513288G>A	uc003tpd.3	-	3	2068	c.1698C>T	c.(1696-1698)ccC>ccT	p.P566P	FIGNL1_uc003tpb.3_Silent_p.P455P|FIGNL1_uc003tpc.3_Silent_p.P566P|FIGNL1_uc003tpe.3_Silent_p.P566P|FIGNL1_uc010kyy.3_Silent_p.P566P|FIGNL1_uc022ada.1_Silent_p.P566P	NM_022116	NP_071399	Q6PIW4	FIGL1_HUMAN	Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.	566					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CTTCTGGGAGGGGAATATAAA	0.438000														69			18		0	0	0.000958276	0	0
DZIP1	22873	broad.mit.edu	37	13	96263712	96263712	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:96263712G>A	uc001vmk.3	-	11	2202	c.1350C>T	c.(1348-1350)atC>atT	p.I450I	DZIP1_uc001vml.3_Silent_p.I450I	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	450					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TGGGTTCACTGATACTGTTTA	0.438000														37			10		0	0	0.000673444	0	0
AKAP11	11215	broad.mit.edu	37	13	42876501	42876501	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:42876501C>T	uc001uys.2	+	7	3794	c.3619C>T	c.(3619-3621)Ctt>Ttt	p.L1207F		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	1207					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TACACACATCCTTTCTCTTGC	0.418000														50			14		0	0	0.00244969	0	0
TTN	7273	broad.mit.edu	37	2	179599168	179599168	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179599168G>A	uc021vsy.1	-	48	11876	c.11651C>T	c.(11650-11652)tCt>tTt	p.S3884F	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S545F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4811							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)			ACACACAAGAGACTTCTGAGA	0.398000														68			11		0	0	0.00136819	0	0
ABCB11	8647	broad.mit.edu	37	2	169792783	169792783	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:169792783C>T	uc002ueo.1	-	21	2897	c.2771G>A	c.(2770-2772)gGa>gAa	p.G924E	ABCB11_uc010zda.1_Missense_Mutation_p.G366E|ABCB11_uc010zdb.1_Missense_Mutation_p.G400E	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	924	ABC transmembrane type-1 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	AGAGGCAAATCCTGTCAACAT	0.493000														19			11		0	0	0.00136819	0	0
DACH1	1602	broad.mit.edu	37	13	72063173	72063173	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:72063173G>A	uc021rkj.1	-	6	2107	c.1684C>T	c.(1684-1686)Cct>Tct	p.P562S	DACH1_uc021rkk.1_Missense_Mutation_p.P414S|DACH1_uc021rkl.1_Missense_Mutation_p.P360S	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	612					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		AGTCCATCAGGAAACAGAAAA	0.463000														76			34		0	0	0.00058488	0	0
PPAP2A	8611	broad.mit.edu	37	5	54786856	54786856	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:54786856G>A	uc003jpz.3	-	1	561	c.145C>T	c.(145-147)Ccg>Tcg	p.P49S	PPAP2A_uc003jqa.3_Intron|PPAP2A_uc003jqb.3_Non-coding_Transcript	NM_176895	NP_795714	O14494	LPP1_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2A (PPAP2A), transcript variant 2, mRNA.	48					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				TCATGGTACGGATAGTTGATG	0.448000														11			10		0	0	0.00136819	0	0
NFATC2	4773	broad.mit.edu	37	20	50140414	50140414	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:50140414G>A	uc002xwd.3	-	1	586	c.366C>T	c.(364-366)atC>atT	p.I122I	NFATC2_uc002xwc.3_Silent_p.I122I|NFATC2_uc010zyv.2_Intron|NFATC2_uc010zyw.2_Intron|NFATC2_uc002xwe.3_Silent_p.I102I|NFATC2_uc010zyx.2_Silent_p.I102I|NFATC2_uc010zyy.2_Intron|NFATC2_uc010zyz.2_Intron	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	122	Trans-activation domain A (TAD-A).				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCACTGCCTGGATCAGTTCGT	0.711000														21			8		0	0	0.000274275	0	0
SLC7A6	9057	broad.mit.edu	37	16	68330310	68330310	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:68330310A>C	uc002evt.2	+	9	1476	c.1163A>C	c.(1162-1164)cAg>cCg	p.Q388P	SLC7A6_uc002evv.2_Non-coding_Transcript|SLC7A6_uc002evu.2_Missense_Mutation_p.Q388P|SLC7A6_uc010cfc.1_Non-coding_Transcript	NM_001076785	NP_003974	Q92536	YLAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 6 (SLC7A6), transcript variant 1, mRNA.	388				Q -> R (in Ref. 3; CAH18146).	blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|antiporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		GATGTTTTCCAGCTTATCAAC	0.587000														54			4		0	0	0.000602214	0	0
GRM7	2917	broad.mit.edu	37	3	7494382	7494383	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:7494382_7494383CC>TT	uc003bqm.2	+	5	1537_1538	c.1263_1264CC>TT	c.(1261-1266)gccctt>gcTTtt	p.L422F	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.L422F|GRM7_uc003bql.2_Missense_Mutation_p.L422F|GRM7_uc003bqn.1_Missense_Mutation_p.L5F|GRM7_uc010hch.1_5'UTR	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	422					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	PDZ domain binding|adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TGGCTCACGCCCTTCACCACAT	0.485000														16			5		0	0	6.4e-05	0	0
TBC1D3P1-DHX40P1	653645	broad.mit.edu	37	17	58075540	58075540	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:58075540G>A	uc002iyf.2	-	6	538	c.303C>T	c.(301-303)tcC>tcT	p.S101S						Homo sapiens TBC1D3P1-DHX40P1 readthrough (non-protein coding) (TBC1D3P1-DHX40P1), non-coding RNA.																		AAATATTGGTGGATATGACAC	0.343000														41			10		0	0	0.000673444	0	0
PRG4	10216	broad.mit.edu	37	1	186273947	186273948	+	Missense_Mutation	DNP	AA	TC	TC			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:186273947_186273948AA>TC	uc001gru.4	+	5	542_543	c.491_492AA>TC	c.(490-492)caa>cTC	p.Q164L	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.Q123L|PRG4_uc009wyl.3_Intron|PRG4_uc009wym.3_Intron|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	164	Ser-rich.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TCTGAAAATCAAGAGtcctcct	0.356000														53			11		0	0	6.4e-05	0	0
ZNF135	7694	broad.mit.edu	37	19	58578102	58578102	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:58578102C>T	uc002qrg.3	+	3	325	c.322C>T	c.(322-324)Ctt>Ttt	p.L108F	ZNF135_uc002qre.3_Intron|ZNF135_uc002qrf.3_Intron|ZNF135_uc010yhq.2_Missense_Mutation_p.L96F|ZNF135_uc010yhr.2_5'UTR|ZNF135_uc002qrd.2_Intron|ZNF135_uc021vcu.1_Intron	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	96					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		GTTTTTGCTTCTTTCAGACTT	0.388000														48			6		0	0	0.00116845	0	0
HRNR	388697	broad.mit.edu	37	1	152187656	152187656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152187656C>T	uc001ezt.1	-	2	6525	c.6449G>A	c.(6448-6450)gGa>gAa	p.G2150E		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2150					keratinization		calcium ion binding|protein binding	p.G2150*(1)		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)			TGAGCTAGATCCGTGTCGTTC	0.582000														632			29		0	0	0.00128727	0	0
OR6Q1	219952	broad.mit.edu	37	11	57798742	57798742	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:57798742C>T	uc010rjz.2	+	0	318	c.318C>T	c.(316-318)ttC>ttT	p.F106F	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CCCAGCTCTTCATCTTCACCT	0.483000														59			14		0	0	0.000308642	0	0
DBF4B	80174	broad.mit.edu	37	17	42828219	42828219	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:42828219C>T	uc002ihf.3	+	13	1659	c.1446C>T	c.(1444-1446)tcC>tcT	p.S482S	DBF4B_uc010wjc.2_Intron	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	482					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				AAGAAAACTCCTTTGCCCCGG	0.587000														46			5		0	0	0.00198382	0	0
TNIK	23043	broad.mit.edu	37	3	170805195	170805195	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:170805195C>T	uc003fhh.2	-	23	3167	c.2822G>A	c.(2821-2823)gGa>gAa	p.G941E	TNIK_uc003fhi.2_Missense_Mutation_p.G886E|TNIK_uc003fhj.2_Missense_Mutation_p.G912E|TNIK_uc003fhk.2_Missense_Mutation_p.G933E|TNIK_uc003fhl.2_Missense_Mutation_p.G857E|TNIK_uc003fhm.2_Missense_Mutation_p.G878E|TNIK_uc003fhn.2_Missense_Mutation_p.G904E|TNIK_uc003fho.2_Missense_Mutation_p.G849E|TNIK_uc003fhg.2_Missense_Mutation_p.G119E	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	941	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			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)			AGTCGGGGTTCCAGCTGGAGA	0.582000														37			9		0	0	0.000673444	0	0
CTAGE1	64693	broad.mit.edu	37	18	19995710	19995711	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:19995710_19995711GG>AA	uc002ktv.1	-	0	2168_2169	c.2064_2065CC>TT	c.(2062-2067)ttcccc>ttTTcc	p.P689S		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	689	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GGAGGTGGGGGGAAAGGAGGTC	0.505000														84			16		0	0	6.4e-05	0	0
SAYSD1	55776	broad.mit.edu	37	6	39073498	39073498	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:39073498G>A	uc003ook.1	-	1	262	c.262C>T	c.(262-264)Cct>Tct	p.P88S	SAYSD1_uc003oom.2_Non-coding_Transcript	NM_018322	NP_060792	Q9NPB0	CF064_HUMAN	Homo sapiens SAYSVFN motif domain containing 1 (SAYSD1), mRNA.	88						integral to membrane											GACGGCAGAGGAATGGCTGTG	0.498000														85			19		0	0	0.00047179	0	0
EMILIN3	90187	broad.mit.edu	37	20	39991483	39991483	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:39991483C>T	uc002xjy.1	-	3	950	c.726G>A	c.(724-726)ggG>ggA	p.G242G		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	242						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				GTGTTAGTGGCCCTCTGGCTC	0.592000														27			10		0	0	0.00244969	0	0
OR4M2	390538	broad.mit.edu	37	15	22369418	22369419	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:22369418_22369419CC>TT	uc010tzu.2	+	0	941_942	c.843_844CC>TT	c.(841-846)ttccct>ttTTct	p.P282S	abParts_uc001yuj.2_Intron|OR4N4_uc001yua.3_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc001yuc.1_Intron	NM_001004719	NP_001004719	Q8NGB6	OR4M2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 2 (OR4M2), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P282H(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		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)		CTTTAATATTCCCTTTACGTAA	0.376000														34			7		0	0	6.4e-05	0	0
ZBTB4	57659	broad.mit.edu	37	17	7367126	7367126	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7367126G>T	uc002ghc.4	-	3	1425	c.1175C>A	c.(1174-1176)cCg>cAg	p.P392Q	ZBTB4_uc002ghd.4_Missense_Mutation_p.P392Q	NM_001128833	NP_065950	Q9P1Z0	ZBTB4_HUMAN	Homo sapiens zinc finger and BTB domain containing 4 (ZBTB4), transcript variant 2, mRNA.	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(3)|skin(6)	36		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;4.1e-06)|READ - Rectum adenocarcinoma(115;0.0642)		AAGGAGGCCCGGGCTAATGCC	0.577000														66			5		0.00198382	0.00662734	0.00198382	1	0
C1orf186	440712	broad.mit.edu	37	1	206239573	206239573	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:206239573C>T	uc001hdt.1	-	5	964	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_001007544	NP_001007545	Q6ZWK4	CA186_HUMAN	Homo sapiens chromosome 1 open reading frame 186 (C1orf186), mRNA.	109						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			TCCACATCCTCTGTGGCCTTA	0.453000														22			4		0	0	0.000602214	0	0
PRKCG	5582	broad.mit.edu	37	19	54406348	54406348	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:54406348G>A	uc002qcq.1	+	14	1879	c.1597G>A	c.(1597-1599)Ggg>Agg	p.G533R	PRKCG_uc010yeg.1_Missense_Mutation_p.G533R|PRKCG_uc010yeh.1_Missense_Mutation_p.G420R	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	533	Protein kinase.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCAGCCCTATGGGAAGTCTGT	0.552000														148			41		0	0	0.000781405	0	0
BMP5	653	broad.mit.edu	37	6	55638866	55638866	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:55638866G>A	uc003pcq.3	-	3	1720	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	BMP5_uc011dxf.2_Silent_p.S336S	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	336					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			TGGACATTCTGGAGGAGTCCT	0.448000														20			14		0	0	0.000308642	0	0
FAM114A2	10827	broad.mit.edu	37	5	153414386	153414386	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:153414386G>A	uc003lvd.3	-	2	270	c.128C>T	c.(127-129)tCa>tTa	p.S43L	FAM114A2_uc003lvb.3_Missense_Mutation_p.S43L|FAM114A2_uc003lve.3_5'UTR|FAM114A2_uc011dda.2_Intron|FAM114A2_uc003lvc.3_Missense_Mutation_p.S43L	NM_018691	NP_061161	Q9NRY5	F1142_HUMAN	Homo sapiens family with sequence similarity 114, member A2 (FAM114A2), mRNA.	43							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						TACAGGTTCTGATTTACTCTC	0.473000														85			29		0	0	0.001512	0	0
SLFN11	91607	broad.mit.edu	37	17	33679392	33679392	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:33679392G>A	uc002hjg.4	-	4	2936	c.2689C>T	c.(2689-2691)Ccg>Tcg	p.P897S	SLFN11_uc010ctr.3_Missense_Mutation_p.P897S|SLFN11_uc010ctp.3_Missense_Mutation_p.P897S|SLFN11_uc010ctq.3_Missense_Mutation_p.P897S|SLFN11_uc002hjh.4_Missense_Mutation_p.P897S	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	897						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)		CCACCCCACGGAAAAATATAC	0.433000														48			49		0	0	0.000781405	0	0
SLC36A3	285641	broad.mit.edu	37	5	150666980	150666980	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:150666980C>T	uc003ltx.2	-	6	1077	c.658G>A	c.(658-660)Gag>Aag	p.E220K	SLC36A3_uc003ltv.2_Missense_Mutation_p.E164K|SLC36A3_uc003ltw.2_Missense_Mutation_p.E179K	NM_001145017	NP_001138489	Q495N2	S36A3_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 3 (SLC36A3), transcript variant 1, mRNA.	179						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCAGAATCTCCCTGGGCTGG	0.507000														47			9		0	0	0.000442599	0	0
HNRNPL	3191	broad.mit.edu	37	19	39336546	39336546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:39336546C>T	uc021uuh.1	-	2	582	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	HNRNPL_uc021uui.1_Missense_Mutation_p.V58M|HNRNPL_uc010xun.2_5'Flank	NM_001533	NP_001005335	P14866	HNRPL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 1, mRNA.	191					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			ACACTGTTCACGCTCCGGGAG	0.522000														69			22		0	0	0.00278032	0	0
ZMAT1	84460	broad.mit.edu	37	X	101141652	101141652	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:101141652G>A	uc011mrl.2	-	5	907	c.557C>T	c.(556-558)tCt>tTt	p.S186F	ZMAT1_uc004eim.3_Missense_Mutation_p.S15F|ZMAT1_uc004ein.3_Missense_Mutation_p.S15F|ZMAT1_uc011mrm.2_Missense_Mutation_p.S15F	NM_001011657	NP_001011657	A7MD47	A7MD47_HUMAN	Homo sapiens zinc finger, matrin-type 1 (ZMAT1), transcript variant 1, mRNA.	15						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CATATCTAAAGATGTAAAAGC	0.323000														15			9		0	0	0.000978159	0	0
PIK3AP1	118788	broad.mit.edu	37	10	98362082	98362082	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:98362082G>A	uc001kmq.3	-	15	2443	c.2315C>T	c.(2314-2316)tCc>tTc	p.S772F	PIK3AP1_uc001kmo.3_Missense_Mutation_p.S371F|PIK3AP1_uc001kmp.3_Missense_Mutation_p.S594F	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	772	Pro-rich.					cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCTCTCGAGGGACATGGTGGG	0.507000														18			14		0	0	0.000422831	0	0
SLC6A14	11254	broad.mit.edu	37	X	115590037	115590037	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:115590037G>A	uc004eqi.3	+	13	1976	c.1845G>A	c.(1843-1845)ggG>ggA	p.G615G		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	615					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	AACATCGTGGGGAAAGATATA	0.398000														45			13		0	0	0.00185496	0	0
TNFRSF4	7293	broad.mit.edu	37	1	1147411	1147411	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:1147411G>A	uc001adf.3	-	3	1155	c.557C>T	c.(556-558)cCc>cTc	p.P186L	TNFRSF4_uc001ade.3_Missense_Mutation_p.P182L			P43489	TNR4_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA.	182					T cell proliferation|immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCTGGCCGGGGGGCCCTGGGT	0.706000														20			8		0	0	0.000442599	0	0
ADCYAP1R1	117	broad.mit.edu	37	7	31124449	31124449	+	Splice_Site	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:31124449G>A	uc003tca.2	+	8	825	c.536_splice	c.e8+1	p.R179_splice	ADCYAP1R1_uc003tcg.3_Splice_Site_p.R179_splice|ADCYAP1R1_uc003tce.2_Splice_Site_p.R179_splice|ADCYAP1R1_uc003tcb.2_Splice_Site_p.R158_splice|ADCYAP1R1_uc003tcc.2_Splice_Site_p.R179_splice|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	179					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TGTCGCTTCCGGTGAGACCCT	0.572000														55			8		0	0	0.000157383	0	0
PRMT3	10196	broad.mit.edu	37	11	20486071	20486071	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:20486071C>T	uc001mqb.3	+	12	1543	c.1326C>T	c.(1324-1326)atC>atT	p.I442I	PRMT3_uc001mqc.3_Silent_p.I365I|PRMT3_uc010rdn.2_Silent_p.I380I	NM_005788	NP_005779	O60678	ANM3_HUMAN	Homo sapiens protein arginine methyltransferase 3 (PRMT3), transcript variant 1, mRNA.	442							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						CCCTGAAAATCACAAGGACAT	0.378000														50			13		0	0	0.000566183	0	0
ZNF594	84622	broad.mit.edu	37	17	5086142	5086142	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:5086142G>A	uc010cla.1	-	1	1566	c.1410C>T	c.(1408-1410)agC>agT	p.S470S	ZNF594_uc021tol.1_Silent_p.S470S	NM_032530	NP_115919	Q96JF6	ZN594_HUMAN	Homo sapiens zinc finger protein 594 (ZNF594), mRNA.	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GTGACCTCTGGCTAAAGGCTT	0.468000														38			11		0	0	0.000978159	0	0
CYP2C9	1559	broad.mit.edu	37	10	96748604	96748604	+	Splice_Site	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:96748604G>A	uc001kka.4	+	9	1317	c.1292_splice	c.e9-1	p.G431_splice	CYP2C9_uc009xut.3_Splice_Site_p.G429_splice	NM_000771	NP_000762	P11712	CP2C9_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 9 (CYP2C9), mRNA.	431					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	CTATTTTCAGGAAAACGGATT	0.438000														29			8		0	0	0.000978159	0	0
VWF	7450	broad.mit.edu	37	12	6061640	6061640	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:6061640C>T	uc001qnn.1	-	48	8282	c.8032G>A	c.(8032-8034)Gtc>Atc	p.V2678I	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2678					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCTCATTGACCTTGCAGAAG	0.512000														19			10		0	0	0.000673444	0	0
KLK13	26085	broad.mit.edu	37	19	51559975	51559975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:51559975C>T	uc002pvn.3	-	4	746	c.703G>A	c.(703-705)Gga>Aga	p.G235R	KLK13_uc002pvl.3_Non-coding_Transcript|KLK13_uc002pvm.3_Non-coding_Transcript|KLK13_uc002pvo.3_Non-coding_Transcript|KLK13_uc002pvp.3_Non-coding_Transcript|KLK13_uc010eon.3_Missense_Mutation_p.G162R|KLK13_uc002pvq.3_Non-coding_Transcript|KLK13_uc010eoo.3_Missense_Mutation_p.G83R	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	Homo sapiens kallikrein-related peptidase 13 (KLK13), mRNA.	235	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		GGGAAGTCTCCCCAGGAGACG	0.547000														42			6		0	0	0.00116845	0	0
CFH	3075	broad.mit.edu	37	1	196711041	196711041	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:196711041C>T	uc001gtj.4	+	18	3233	c.2993C>T	c.(2992-2994)gCc>gTc	p.A998V	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	998	Sushi 17.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTTGAAAATGCCATACCCATG	0.363000														49			12		0	0	0.00136819	0	0
SV2B	9899	broad.mit.edu	37	15	91809816	91809816	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:91809816C>T	uc002bqv.3	+	7	1904	c.1013C>T	c.(1012-1014)tCc>tTc	p.S338F	SV2B_uc002bqt.3_Missense_Mutation_p.S338F|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.S187F	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	338					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			TTTCAGGTTTCCAACATCAAA	0.368000														132			38		0	0	0.00148497	0	0
SATB2	23314	broad.mit.edu	37	2	200137150	200137150	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:200137150G>A	uc002uuy.2	-	10	2803	c.1986C>T	c.(1984-1986)ttC>ttT	p.F662F	SATB2_uc010fsq.2_Silent_p.F544F|SATB2_uc002uva.2_Silent_p.F662F|SATB2_uc002uuz.2_Silent_p.F662F	NM_001172509	NP_056080	Q9UPW6	SATB2_HUMAN	Homo sapiens SATB homeobox 2 (SATB2), transcript variant 1, mRNA.	662						cytoplasm|nuclear matrix	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(40)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGTTCTGGAAGAACTTGATGA	0.542000														43			25		0	0	0.000720815	0	0
A2M	2	broad.mit.edu	37	12	9230416	9230416	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:9230416G>A	uc001qvk.1	-	25	3270	c.3157C>T	c.(3157-3159)Cga>Tga	p.R1053*	A2M_uc009zgk.1_Nonsense_Mutation_p.R903*	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	1053					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	GTPase activator activity|enzyme binding|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	ATGTAGGCTCGAGCTTGGGCA	0.473000														33			9		0	0	0.000673444	0	0
STK31	56164	broad.mit.edu	37	7	23871972	23871972	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:23871972A>G	uc003sws.4	+	23	3114	c.3047A>G	c.(3046-3048)aAc>aGc	p.N1016S	STK31_uc003swt.4_Missense_Mutation_p.N993S|STK31_uc011jze.2_Missense_Mutation_p.N993S|STK31_uc010kuq.3_Missense_Mutation_p.N993S|STK31_uc003swv.1_Intron	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	1016	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGTGAAGCCAACTTTGATTGT	0.318000														194			29		0	0	0.00058488	0	0
GTF2H3	2967	broad.mit.edu	37	12	124123845	124123845	+	Silent	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:124123845T>C	uc001ufo.1	+	1	74	c.48T>C	c.(46-48)gaT>gaC	p.D16D	GTF2H3_uc010tau.1_Intron	NM_001516	NP_001507	Q13889	TF2H3_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 3, 34kDa (GTF2H3), mRNA.	16					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		TTGTAGTTGATGCCAACCCAA	0.333000								Nucleotide excision repair (NER)						44			17		0	0	0.00188189	0	0
GRAMD1C	54762	broad.mit.edu	37	3	113658824	113658824	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:113658824C>T	uc003eaq.4	+	15	1859	c.1783C>T	c.(1783-1785)Caa>Taa	p.Q595*	GRAMD1C_uc011bil.2_Non-coding_Transcript|GRAMD1C_uc003ear.3_Nonsense_Mutation_p.Q428*|GRAMD1C_uc003eas.3_Nonsense_Mutation_p.Q390*|GRAMD1C_uc003eat.3_Nonsense_Mutation_p.Q254*	NM_017577	NP_001165576	Q8IYS0	GRM1C_HUMAN	Homo sapiens GRAM domain containing 1C (GRAMD1C), transcript variant 1, mRNA.	595						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TCTCCGCCTCCAAGAAGAGAA	0.373000														70			11		0	0	0.00244969	0	0
SOGA3	387104	broad.mit.edu	37	6	127837056	127837056	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:127837056C>T	uc003qbd.3	-	1	1569	c.704G>A	c.(703-705)gGa>gAa	p.G235E		NM_001012279	NP_001012279	Q5TF21	CF174_HUMAN	Homo sapiens chromosome 6 open reading frame 174 (C6orf174), mRNA.	235	Gly-rich.					integral to membrane											AACGCCGCTTCCGGAGTTTCT	0.657000														25			4		0	0	0.00116845	0	0
MTERFD1	51001	broad.mit.edu	37	8	97258152	97258152	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:97258152T>A	uc003yhs.1	-	5	911	c.833A>T	c.(832-834)gAt>gTt	p.D278V	MTERFD1_uc003yhr.1_Missense_Mutation_p.D157V|MTERFD1_uc010mbd.1_Missense_Mutation_p.D278V	NM_015942	NP_057026	Q96E29	MTER1_HUMAN	Homo sapiens MTERF domain containing 1 (MTERFD1), nuclear gene encoding mitochondrial protein, mRNA.	278					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					AACTACCAGATCTCTAGTCTG	0.363000														60			45		0	0	0.000781405	0	0
DPY19L1	23333	broad.mit.edu	37	7	35050162	35050162	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:35050162G>A	uc003tem.4	-	5	608	c.463C>T	c.(463-465)Cct>Tct	p.P155S		NM_015283	NP_056098	Q2PZI1	D19L1_HUMAN	Homo sapiens dpy-19-like 1 (C. elegans) (DPY19L1), mRNA.	155						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AAGCAAGCAGGATCTCCCAAT	0.264000														95			17		0	0	0.000566183	0	0
PMFBP1	83449	broad.mit.edu	37	16	72153954	72153954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:72153954C>T	uc002fcc.4	-	19	2990	c.2818G>A	c.(2818-2820)Gaa>Aaa	p.E940K	PMFBP1_uc002fcd.3_Missense_Mutation_p.E935K|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.E810K	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	940								p.L939L(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTCTTGTTTTCCTGCTGCAAG	0.537000														71			22		0	0	0.000586117	0	0
SLC26A9	115019	broad.mit.edu	37	1	205904914	205904914	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:205904914C>T	uc001hdp.3	-	1	149	c.35G>A	c.(34-36)aGa>aAa	p.R12K	SLC26A9_uc001hdq.3_Missense_Mutation_p.R12K	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	12						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GTATGCGGCTCTGTCTACCAC	0.557000														41			11		0	0	0.00136819	0	0
TRAF3	7187	broad.mit.edu	37	14	103336546	103336546	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:103336546C>T	uc001ymc.2	+	2	361	c.8C>T	c.(7-9)tCg>tTg	p.S3L	TRAF3_uc001ymd.2_Missense_Mutation_p.S3L|TRAF3_uc001yme.2_Missense_Mutation_p.S3L|TRAF3_uc010txy.2_Missense_Mutation_p.S3L	NM_145725	NP_663777	Q13114	TRAF3_HUMAN	Homo sapiens TNF receptor-associated factor 3 (TRAF3), transcript variant 1, mRNA.	3					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.S3S(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AAAATGGAGTCGAGTAAAAAG	0.493000														63			21		0	0	0.00278032	0	0
SPRR2E	6704	broad.mit.edu	37	1	153066064	153066064	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:153066064G>A	uc021ozs.1	-	0	164	c.164C>T	c.(163-165)cCt>cTt	p.P55L	SPRR2A_uc001fbf.3_Intron|SPRR2E_uc001fbh.3_Missense_Mutation_p.P55L	NM_001024209	NP_001019380	P22531	SPR2E_HUMAN	Homo sapiens small proline-rich protein 2E (SPRR2E), mRNA.	55					keratinization	cornified envelope|cytoplasm	protein binding|structural molecule activity	p.C54Y(2)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTCACAGGAGGACATTTTTG	0.557000														118			66		0	0	0.000781405	0	0
CACNA1E	777	broad.mit.edu	37	1	181701924	181701924	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:181701924G>A	uc009wxt.3	+	19	2897	c.2702G>A	c.(2701-2703)gGa>gAa	p.G901E	CACNA1E_uc001gow.3_Missense_Mutation_p.G901E|CACNA1E_uc009wxs.3_Missense_Mutation_p.G882E|CACNA1E_uc001gox.1_Missense_Mutation_p.G127E	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	901					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.G901R(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAGGCAGGGGGAGGAGAGGCT	0.662000														43			7		0	0	0.000157383	0	0
PCDHB8	56128	broad.mit.edu	37	5	140559667	140559667	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140559667C>T	uc011dai.2	+	0	2297	c.2052C>T	c.(2050-2052)gcC>gcT	p.A684A	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	684					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			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)			AGGGCCAGGCCGACTCTCTCA	0.672000														56			18		0	0	0.00188189	0	0
PLCE1	51196	broad.mit.edu	37	10	96006212	96006212	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:96006212G>A	uc001kjk.3	+	7	3564	c.2930G>A	c.(2929-2931)gGg>gAg	p.G977E	PLCE1_uc010qnx.2_Missense_Mutation_p.G977E|PLCE1_uc001kjm.3_Missense_Mutation_p.G669E	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	977					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)				TTGCTCTATGGGCTTCAGACC	0.468000														52			19		0	0	0.00229938	0	0
AUTS2	26053	broad.mit.edu	37	7	69364339	69364339	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:69364339G>A	uc003tvw.4	+	1	1112	c.377G>A	c.(376-378)cGa>cAa	p.R126Q	AUTS2_uc003tvv.4_Missense_Mutation_p.R126Q|AUTS2_uc003tvx.4_Missense_Mutation_p.R126Q	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	126										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AAGAAGAAACGAGAAGCACTT	0.483000														48			6		0	0	0.000157383	0	0
PAPPA	5069	broad.mit.edu	37	9	119097240	119097240	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:119097240C>T	uc004bjn.3	+	12	3879	c.3498C>T	c.(3496-3498)ttC>ttT	p.F1166F	PAPPA_uc011lxp.1_Silent_p.F861F|PAPPA_uc011lxq.2_Silent_p.F541F	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1166					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding	p.S1165G(1)		NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GTGTGAGCTTCAGTTCGCCCC	0.617000														24			5		0	0	0.00198382	0	0
OR51B4	79339	broad.mit.edu	37	11	5322817	5322817	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5322817G>A	uc010qza.2	-	0	360	c.360C>T	c.(358-360)ttC>ttT	p.F120F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033179	NP_149419	Q9Y5P0	O51B4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 4 (OR51B4), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATGGCAATGAAACAGTCAT	0.458000														37			16		0	0	0.000422831	0	0
ATP9B	374868	broad.mit.edu	37	18	77013536	77013536	+	Silent	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:77013536C>A	uc002lmx.3	+	11	1277	c.1263C>A	c.(1261-1263)ccC>ccA	p.P421P	ATP9B_uc002lmv.1_Non-coding_Transcript|ATP9B_uc002lmw.1_Silent_p.P421P|ATP9B_uc002lmy.1_Non-coding_Transcript|ATP9B_uc002lmz.1_Silent_p.P115P	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	421					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|aminophospholipid transporter activity|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		ACATCATTCCCATAAGGTAAG	0.328000														126			8		1.12685e-05	3.78584e-05	0.000274275	1	0
ZNF98	148198	broad.mit.edu	37	19	22574407	22574407	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:22574407T>C	uc002nqt.2	-	3	1752	c.1630A>G	c.(1630-1632)Aaa>Gaa	p.K544E		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	544					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				TTGTAGAGTTTCTCTCCAGTA	0.348000														14			5		0	0	0.000157383	0	0
PKD1L1	168507	broad.mit.edu	37	7	47925613	47925613	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:47925613C>T	uc003tny.2	-	17	2910	c.2876G>A	c.(2875-2877)gGa>gAa	p.G959E		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	959	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGCACCGAGTCCCAGCGAGCC	0.478000														72			11		0	0	0.000978159	0	0
PHKA1	5255	broad.mit.edu	37	X	71840645	71840645	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:71840645G>A	uc004eax.4	-	18	2368	c.2067C>T	c.(2065-2067)ttC>ttT	p.F689F	PHKA1_uc004eay.4_Silent_p.F689F|PHKA1_uc011mqi.2_Intron	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	689					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					CAGCAGCTTGGAACCGATCTA	0.512000														11			11		0	0	0.00136819	0	0
RP1	6101	broad.mit.edu	37	8	55540720	55540720	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:55540720G>A	uc003xsd.1	+	3	4426	c.4278G>A	c.(4276-4278)agG>agA	p.R1426R	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1426					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTTCACTAAGGAAGTTTCAGG	0.368000														69			5		0	0	0.00116845	0	0
LRFN2	57497	broad.mit.edu	37	6	40399678	40399678	+	Missense_Mutation	SNP	G	A	A	rs143225218		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:40399678G>A	uc003oph.1	-	1	1640	c.1175C>T	c.(1174-1176)cCc>cTc	p.P392L		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	392						cell junction|integral to membrane|postsynaptic membrane		p.P392P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCGGGACTTGGGGGGTGCAGT	0.667000														47			8		0	0	0.000673444	0	0
SLC22A10	387775	broad.mit.edu	37	11	63065041	63065041	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:63065041G>A	uc009yor.3	+	3	880	c.672G>A	c.(670-672)tgG>tgA	p.W224*	SLC22A10_uc010rmo.1_Non-coding_Transcript|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	224						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTACTGAGTGGATAAGGCCCA	0.388000														41			5		0	0	0.00116845	0	0
OR9G4	283189	broad.mit.edu	37	11	56510580	56510580	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:56510580G>A	uc010rjo.2	-	0	708	c.708C>T	c.(706-708)atC>atT	p.I236I		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	236					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						TAGCCAGGAGGATGTTGACAT	0.488000														66			10		0	0	0.000673444	0	0
NLRP2	55655	broad.mit.edu	37	19	55508692	55508692	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:55508692G>A	uc021vbq.1	+	11	2998	c.2887G>A	c.(2887-2889)Gga>Aga	p.G963R	NLRP2_uc010yfp.2_Missense_Mutation_p.G940R|NLRP2_uc002qij.3_Missense_Mutation_p.G963R|NLRP2_uc010esp.3_Missense_Mutation_p.G941R|NLRP2_uc010esn.3_Missense_Mutation_p.G939R|NLRP2_uc010eso.3_Missense_Mutation_p.G960R	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	963					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)		CAGGTTGTGGGGATGTTCCAT	0.577000														51			7		0	0	0.000274275	0	0
SH2D1B	117157	broad.mit.edu	37	1	162381788	162381788	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:162381788G>A	uc001gbz.1	-	0	141	c.19C>T	c.(19-21)Cat>Tat	p.H7Y	SH2D1B_uc001gca.1_Missense_Mutation_p.H7Y	NM_053282	NP_444512	O14796	SH21B_HUMAN	Homo sapiens SH2 domain containing 1B (SH2D1B), mRNA.	7	SH2.									kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			AGACGTCCATGGTAGTAAGGC	0.522000														33			11		0	0	0.000673444	0	0
SMG1	23049	broad.mit.edu	37	16	18851080	18851080	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:18851080G>A	uc002dfm.3	-	41	7248	c.6885C>T	c.(6883-6885)ctC>ctT	p.L2295L	SMG1_uc010bwb.3_Silent_p.L2155L|SMG1_uc010bwa.3_Silent_p.L1026L|SMG1_uc021ted.1_Silent_p.L593L	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	2295	PI3K/PI4K.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTTTGGCAAGGAGATTCGGGG	0.468000														58			15		0	0	0.000566183	0	0
TRRAP	8295	broad.mit.edu	37	7	98547192	98547192	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:98547192C>T	uc003upp.3	+	34	5129	c.4920C>T	c.(4918-4920)ttC>ttT	p.F1640F	TRRAP_uc011kis.2_Silent_p.F1622F|TRRAP_uc003upr.3_Silent_p.F1339F	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1640					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACCTCCAGTTCCAGGCCATCA	0.607000														9			20		0	0	0.00121646	0	0
GRIN1	2902	broad.mit.edu	37	9	140059743	140059743	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:140059743G>A	uc004clk.3	+	18	3025	c.2695G>A	c.(2695-2697)Gac>Aac	p.D899N	GRIN1_uc004cli.1_3'UTR|GRIN1_uc004clj.1_3'UTR|GRIN1_uc004cln.3_Missense_Mutation_p.D920N|GRIN1_uc004clo.3_Intron|GRIN1_uc004clm.3_Intron|GRIN1_uc004cll.3_Intron	NM_007327	NP_015566	Q05586	NMDZ1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 1 (GRIN1), transcript variant NR1-3, mRNA.	899					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GTCCTCCAAAGACACGGTAAG	0.622000														19			5		0	0	0.000602214	0	0
DOCK5	80005	broad.mit.edu	37	8	25246714	25246714	+	Silent	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:25246714T>G	uc003xeg.3	+	40	4376	c.4239T>G	c.(4237-4239)ccT>ccG	p.P1413P	DOCK5_uc003xek.3_Silent_p.P202P|DOCK5_uc003xei.3_Silent_p.P983P|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1413	DHR-2.					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)		GTACCACGCCTCCTGGGGAAG	0.567000														28			6		0	0	0.00198382	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32928677	32928677	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:32928677C>T	uc001zgy.1	+	11	2425	c.1703C>T	c.(1702-1704)cCt>cTt	p.P568L	ARHGAP11A_uc010ubw.1_Missense_Mutation_p.P379L|ARHGAP11A_uc010ubx.1_Missense_Mutation_p.P379L	NM_014783	NP_055598	Q6P4F7	RHGBA_HUMAN	Homo sapiens Rho GTPase activating protein 11A (ARHGAP11A), transcript variant 1, mRNA.	568					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GAACTCACCCCTTCCAATTTA	0.373000														66			50		0	0	0.000781405	0	0
ZNF318	24149	broad.mit.edu	37	6	43307388	43307388	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:43307388G>A	uc003oux.3	-	9	4426	c.4348C>T	c.(4348-4350)Cca>Tca	p.P1450S	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1450	Pro-rich.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ggaggtggtggaggtgggggt	0.507000														29			8		0	0	0.000157383	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140167308	140167308	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140167308C>T	uc003lhb.2	+	0	1433	c.1433C>T	c.(1432-1434)tCt>tTt	p.S478F	PCDHAC2_uc003lha.2_Missense_Mutation_p.S478F|PCDHAC2_uc003lgz.3_Missense_Mutation_p.S478F	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	492	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCACGGTGTCTGCGCGGGAC	0.652000														51			12		0	0	0.00185496	0	0
PTPRG	5793	broad.mit.edu	37	3	61734565	61734565	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:61734565C>T	uc003dlb.3	+	1	818	c.99C>T	c.(97-99)ggC>ggT	p.G33G	PTPRG_uc003dlc.3_Silent_p.G33G|PTPRG_uc003dla.4_Non-coding_Transcript	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	33					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		TGACAGAAGGCTACGTTGGGG	0.562000														15			6		0	0	0.00116845	0	0
P2RY10	27334	broad.mit.edu	37	X	78216954	78216954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:78216954C>T	uc022bzl.1	+	0	937	c.937C>T	c.(937-939)Cgt>Tgt	p.R313C	P2RY10_uc004ede.3_Missense_Mutation_p.R313C|P2RY10_uc004edf.3_Missense_Mutation_p.R313C	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	313						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						TTCAGAGTTTCGTGACCAACT	0.458000														62			15		0	0	0.00244969	0	0
CAMTA1	23261	broad.mit.edu	37	1	7724488	7724488	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:7724488C>T	uc001aoi.3	+	8	2088	c.1881C>T	c.(1879-1881)gtC>gtT	p.V627V		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	627					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCCTCCCCGTCGAGCAGAACA	0.647000			T	WWTR1	epitheliod hemangioendothelioma									66			17		0	0	0.00152264	0	0
TTC14	151613	broad.mit.edu	37	3	180326496	180326496	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:180326496T>C	uc003fkk.3	+	10	1430	c.1298T>C	c.(1297-1299)tTg>tCg	p.L433S	TTC14_uc003fkl.3_3'UTR|TTC14_uc003fkm.2_Missense_Mutation_p.L433S	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.	433							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AAGAAATCTTTGGAATTAAGA	0.338000														10			3		0	0	6.4e-05	0	0
ATP13A1	57130	broad.mit.edu	37	19	19766382	19766382	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:19766382G>A	uc002nnh.4	-	9	1379	c.1351C>T	c.(1351-1353)Ctc>Ttc	p.L451F	ATP13A1_uc002nnf.4_5'Flank|ATP13A1_uc002nng.3_Missense_Mutation_p.L333F	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	451					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AACACCAGGAGGAAGAGGATG	0.592000														14			6		0	0	0.00116845	0	0
SLC22A6	9356	broad.mit.edu	37	11	62749455	62749455	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:62749455C>T	uc001nwk.3	-	3	989	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	SLC22A6_uc001nwl.3_Missense_Mutation_p.R219Q|SLC22A6_uc001nwj.3_Missense_Mutation_p.R219Q|SLC22A6_uc001nwm.3_Missense_Mutation_p.R219Q	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	219					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CACGCAGGCCCGTGTGTGAAT	0.607000														8			8		0	0	0.00136819	0	0
PHF14	9678	broad.mit.edu	37	7	11053476	11053476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:11053476C>T	uc003sry.2	+	4	1600	c.1148C>T	c.(1147-1149)cCt>cTt	p.P383L	PHF14_uc011jxi.2_Missense_Mutation_p.P98L|PHF14_uc011jxj.2_Missense_Mutation_p.P98L	NM_014660	NP_055475	O94880	PHF14_HUMAN	Homo sapiens PHD finger protein 14 (PHF14), transcript variant 2, mRNA.	383							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		GGTGTTTCTCCTAGCTGTGAA	0.388000														45			5		0	0	0.00198382	0	0
KCNQ3	3786	broad.mit.edu	37	8	133184930	133184930	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:133184930C>G	uc003ytj.3	-	6	1280	c.1055G>C	c.(1054-1056)gGg>gCg	p.G352A	KCNQ3_uc003yti.3_Missense_Mutation_p.G232A|KCNQ3_uc010mdt.3_Missense_Mutation_p.G352A	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	352					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CAGCCCGGACCCCAGGATGCC	0.617000														43			5		0	0	0.000602214	0	0
PLCH1	23007	broad.mit.edu	37	3	155198941	155198941	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:155198941G>A	uc021xge.1	-	22	5175	c.4898C>T	c.(4897-4899)tCc>tTc	p.S1633F	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.S1595F	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1633					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGCGATGTAGGAGCCGGTGGA	0.582000														12			14		0	0	0.000308642	0	0
ZC3H13	23091	broad.mit.edu	37	13	46559534	46559534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:46559534G>A	uc010tfw.1	-	8	1624	c.1618C>T	c.(1618-1620)Cgt>Tgt	p.R540C	ZC3H13_uc001vas.1_Missense_Mutation_p.R540C|ZC3H13_uc001vat.1_Missense_Mutation_p.R540C	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	540	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		ATTTCCGTACGAGAACTTTCT	0.458000														54			17		0	0	0.00152264	0	0
MUC16	94025	broad.mit.edu	37	19	9091122	9091122	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9091122C>T	uc002mkp.3	-	0	897	c.693G>A	c.(691-693)ggG>ggA	p.G231G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	231	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G231G(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						AATAAAGTGTCCCAAATGATG	0.458000														31			28		0	0	0.00127121	0	0
INSRR	3645	broad.mit.edu	37	1	156814322	156814322	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:156814322A>G	uc010pht.2	-	13	2968	c.2669T>C	c.(2668-2670)gTt>gCt	p.V890A	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	890	Fibronectin type-III 3.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGTTGCCCTAACCCTGGCAGA	0.567000														28			8		0	0	0.000157383	0	0
TF	7018	broad.mit.edu	37	3	133489369	133489369	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:133489369G>A	uc003epu.2	+	18	3368	c.1640G>A	c.(1639-1641)gGa>gAa	p.G547E	TF_uc011blt.2_Missense_Mutation_p.G420E|TF_uc003epw.2_Intron|TF_uc003epv.2_Missense_Mutation_p.G547E	NM_001063	NP_001054	P02787	TRFE_HUMAN	Homo sapiens transferrin (TF), mRNA.	547	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)	GTTGAGAAGGGAGATGTGGCC	0.512000														81			24		0	0	0.00127121	0	0
HTR7	3363	broad.mit.edu	37	10	92509303	92509303	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:92509303C>T	uc001kha.3	-	1	831	c.588G>A	c.(586-588)ggG>ggA	p.G196G	HTR7_uc001kgz.3_Silent_p.G196G|HTR7_uc001khb.3_Silent_p.G196G	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	196					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	CCATGCATTTCCCATTCTGCC	0.488000														24			11		0	0	0.00136819	0	0
TUFM	7284	broad.mit.edu	37	16	28855778	28855778	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:28855778G>A	uc002drh.2	-	5	918	c.779C>T	c.(778-780)cCt>cTt	p.P260L	NPIPL1_uc010vct.2_Intron|TUFM_uc021tft.1_5'Flank|SH2B1_uc002dri.3_5'Flank	NM_003321	NP_003312	P49411	EFTU_HUMAN	Homo sapiens Tu translation elongation factor, mitochondrial (TUFM), nuclear gene encoding mitochondrial protein, mRNA.	257						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						CAGCAGGAAAGGCTTCTCCAG	0.602000														29			6		0	0	0.00116845	0	0
SNX16	64089	broad.mit.edu	37	8	82751866	82751866	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:82751866T>C	uc003ycn.3	-	1	617	c.356A>G	c.(355-357)gAa>gGa	p.E119G	SNX16_uc003yco.3_Missense_Mutation_p.E119G|SNX16_uc011lft.2_Missense_Mutation_p.E119G	NM_152836	NP_690049	P57768	SNX16_HUMAN	Homo sapiens sorting nexin 16 (SNX16), transcript variant 2, mRNA.	119	PX.				cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						AGCTCTTTCTTCCATCACTTC	0.358000														189			31		0	0	0.00111076	0	0
ODZ4	26011	broad.mit.edu	37	11	78437243	78437243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:78437243G>A	uc001ozl.4	-	22	3894	c.3431C>T	c.(3430-3432)tCc>tTc	p.S1144F		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1144					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						ATCTGGGCAGGATTCATATTC	0.468000														121			24		0	0	0.00106085	0	0
RUFY1	80230	broad.mit.edu	37	5	179028973	179028973	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:179028973C>T	uc003mka.1	+	14	1842	c.1842C>T	c.(1840-1842)ggC>ggT	p.G614G	RUFY1_uc003mkb.1_Silent_p.G506G|RUFY1_uc003mkc.1_Silent_p.G506G|RUFY1_uc003mkd.1_Silent_p.G216G	NM_025158	NP_001035542	Q96T51	RUFY1_HUMAN	Homo sapiens RUN and FYVE domain containing 1 (RUFY1), transcript variant 1, mRNA.	614					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGAAATGGGCCTGCACCTCA	0.572000										HNSCC(44;0.11)				33			7		0	0	0.00198382	0	0
GPRIN3	285513	broad.mit.edu	37	4	90170573	90170573	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:90170573G>A	uc003hsm.1	-	1	1208	c.689C>T	c.(688-690)tCt>tTt	p.S230F	GPRIN3_uc021xqb.1_Missense_Mutation_p.S230F	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	230										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CCTCATTTCAGAGTCACAGAT	0.547000														21			5		0	0	0.00116845	0	0
KRTAP19-3	337970	broad.mit.edu	37	21	31864169	31864169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:31864169C>T	uc002yog.1	-	0	107	c.107G>A	c.(106-108)gGt>gAt	p.G36D		NM_181609	NP_853640	Q7Z4W3	KR193_HUMAN	Homo sapiens keratin associated protein 19-3 (KRTAP19-3), mRNA.	36						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						ACAGCCAGAACCCAGTCTGCG	0.587000														59			18		0	0	0.00121646	0	0
MRGPRX1	259249	broad.mit.edu	37	11	18955932	18955932	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:18955932G>C	uc001mpg.3	-	0	618	c.400C>G	c.(400-402)Cgc>Ggc	p.R134G		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	134					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						TGTGTGGGGCGGTGGCAGCGG	0.607000														25			10		0	0	0.000978159	0	0
OR5T2	219464	broad.mit.edu	37	11	55999843	55999843	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:55999843C>T	uc010rjc.2	-	0	819	c.819G>A	c.(817-819)agG>agA	p.R273R		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					AGACTTTTCTCCTCCCTTCAG	0.438000														36			23		0	0	0.000586117	0	0
SCN5A	6331	broad.mit.edu	37	3	38639450	38639450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:38639450C>T	uc021wvo.1	-	12	2084	c.2032G>A	c.(2032-2034)Gag>Aag	p.E678K	SCN5A_uc021wvk.1_Missense_Mutation_p.E678K|SCN5A_uc021wvl.1_Missense_Mutation_p.E678K|SCN5A_uc021wvm.1_Missense_Mutation_p.E678K|SCN5A_uc021wvn.1_Missense_Mutation_p.E678K|SCN5A_uc021wvp.1_Missense_Mutation_p.E678K|SCN5A_uc021wvq.1_Missense_Mutation_p.E678K|SCN5A_uc021wvr.1_Missense_Mutation_p.E678K|SCN5A_uc021wvs.1_Missense_Mutation_p.E678K|SCN5A_uc021wvt.1_Missense_Mutation_p.E678K|SCN5A_uc021wvu.1_Missense_Mutation_p.E678K|SCN5A_uc021wvv.1_Missense_Mutation_p.E678K|SCN5A_uc021wvj.1_Missense_Mutation_p.E544K|SCN5A_uc021wvi.1_Missense_Mutation_p.E544K|SCN5A_uc021wvw.1_Missense_Mutation_p.E289K	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	678					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)	TGGCGAGACTCCTCTAACTCT	0.512000														24			10		0	0	0.000673444	0	0
SNED1	25992	broad.mit.edu	37	2	242004773	242004773	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:242004773C>T	uc002wah.1	+	20	2772	c.2772C>T	c.(2770-2772)atC>atT	p.I924I	SNED1_uc002wai.1_Silent_p.I159I|SNED1_uc002waj.1_Silent_p.I11I|SNED1_uc002wak.3_Silent_p.I11I	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	924	Fibronectin type-III 1.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GGGTCTCTATCTCCTGGAACC	0.612000														11			4		0	0	0.00024832	0	0
OR56B1	387748	broad.mit.edu	37	11	5757749	5757749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:5757749G>A	uc001mbt.2	+	0	72	c.3G>A	c.(1-3)atG>atA	p.M1I	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|OR56B1_uc001mbs.1_Missense_Mutation_p.M1I|OR56B1_uc009yev.1_Missense_Mutation_p.M1I	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GTTGAATCATGAATCATATGT	0.388000														50			17		0	0	0.00121646	0	0
DPYD	1806	broad.mit.edu	37	1	97700466	97700466	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:97700466C>T	uc001drv.3	-	18	2521	c.2384G>A	c.(2383-2385)gGa>gAa	p.G795E		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	795					'de novo' pyrimidine base biosynthetic process|UMP biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|NADP binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|protein homodimerization activity	p.G795R(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGAGTCAATTCCACCAGTAGC	0.458000														25			6		0	0	0.00116845	0	0
DSCAM	1826	broad.mit.edu	37	21	41725487	41725487	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:41725487A>T	uc002yyq.1	-	4	1291	c.839T>A	c.(838-840)aTt>aAt	p.I280N	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.	280	Ig-like C2-type 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AATGTTCTCAATGAGCAGCCC	0.552000														20			10		0	0	0.000978159	0	0
KIAA1210	57481	broad.mit.edu	37	X	118223552	118223552	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:118223552C>T	uc004era.4	-	10	1641	c.1641G>A	c.(1639-1641)ttG>ttA	p.L547L		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	547										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CACACCCACTCAATCCTGAAA	0.483000														103			42		0	0	0.000781405	0	0
HSD17B6	8630	broad.mit.edu	37	12	57178711	57178711	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:57178711T>C	uc001smg.1	+	3	757	c.647T>C	c.(646-648)aTg>aCg	p.M216T		NM_003725	NP_003716	O14756	H17B6_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse) (HSD17B6), mRNA.	216					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	ATGACAAACATGACACAGTCC	0.423000														79			19		0	0	0.000958276	0	0
C11orf30	56946	broad.mit.edu	37	11	76255614	76255615	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:76255614_76255615CC>TT	uc001oxl.3	+	18	3164_3165	c.3021_3022CC>TT	c.(3019-3024)ctccag>ctTTag	p.Q1008*	C11orf30_uc001oxm.3_Nonsense_Mutation_p.Q910*|C11orf30_uc010rsb.2_Nonsense_Mutation_p.Q1023*|C11orf30_uc010rsc.2_Nonsense_Mutation_p.Q1009*|C11orf30_uc001oxn.3_Nonsense_Mutation_p.Q1009*|C11orf30_uc010rsd.2_Nonsense_Mutation_p.Q917*|C11orf30_uc001oxo.1_Nonsense_Mutation_p.Q362*|C11orf30_uc010rse.2_Nonsense_Mutation_p.Q255*|C11orf30_uc001oxp.3_Nonsense_Mutation_p.Q108*	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	1008	Gln-rich.				DNA repair|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(10)|liver(1)|lung(23)|ovary(5)|prostate(2)|skin(4)|stomach(1)|urinary_tract(2)	60						TCACCCCTCTCCAGCAAGAACA	0.554000														37			10		0	0	6.4e-05	0	0
ZNF777	27153	broad.mit.edu	37	7	149153091	149153091	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:149153091G>A	uc003wfv.3	-	1	186	c.23C>T	c.(22-24)cCt>cTt	p.P8L		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	8					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAACGACAGAGGTGATGAGCG	0.502000														54			7		0	0	0.000274275	0	0
STMN1	3925	broad.mit.edu	37	1	26227983	26227983	+	Splice_Site	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:26227983T>C	uc010oev.2	-	4	554	c.378_splice	c.e4+1	p.K126_splice	STMN1_uc001bkz.3_Splice_Site_p.K126_splice|STMN1_uc001blb.3_Splice_Site_p.K119_splice|STMN1_uc001bla.3_Splice_Site_p.K126_splice|STMN1_uc001blc.3_Splice_Site_p.K126_splice	NM_001145454	NP_001138926	P16949	STMN1_HUMAN	Homo sapiens stathmin 1 (STMN1), transcript variant 4, mRNA.	126					cell differentiation|intracellular signal transduction|microtubule depolymerization|mitotic spindle organization|nervous system development|response to virus	cytoplasm|microtubule	signal transducer activity|tubulin binding			breast(2)|large_intestine(2)|skin(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		GAAACCAACCTTCTCTCGCAA	0.413000														112			18		0	0	0.00074312	0	0
ATP8B1	5205	broad.mit.edu	37	18	55328481	55328481	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:55328481C>T	uc002lgw.3	-	21	2752	c.2632G>A	c.(2632-2634)Gac>Aac	p.D878N	LOC100505549_uc002lgu.2_Intron|LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	878					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TTCACCAGGTCCACCACCATG	0.567000														32			6		0	0	0.00198382	0	0
COL21A1	81578	broad.mit.edu	37	6	56035891	56035891	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:56035891G>A	uc003pcs.3	-	3	908	c.676C>T	c.(676-678)Cgt>Tgt	p.R226C	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.R226C|COL21A1_uc003pcu.1_Missense_Mutation_p.R226C	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	226					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTTCATCACGAGCTGCCACT	0.308000														116			47		0	0	0.000781405	0	0
GPC3	2719	broad.mit.edu	37	X	132887946	132887946	+	Nonsense_Mutation	SNP	G	A	A	rs104894855		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:132887946G>A	uc010nrn.2	-	2	792	c.595C>T	c.(595-597)Cga>Tga	p.R199*	GPC3_uc004exe.2_Nonsense_Mutation_p.R199*|GPC3_uc011mvh.2_Nonsense_Mutation_p.R183*|GPC3_uc010nro.2_Nonsense_Mutation_p.R145*|GPC3_uc010nrp.2_Nonsense_Mutation_p.R71*	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	199						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CTTGCTCCTCGGAGGCACTCA	0.478000			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome					52			20		0	0	0.00188189	0	0
PLOD1	5351	broad.mit.edu	37	1	12008121	12008121	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:12008121C>T	uc010obb.2	+	2	419	c.306C>T	c.(304-306)atC>atT	p.I102I	PLOD1_uc001atm.3_Silent_p.I55I	NM_000302	NP_000293	Q02809	PLOD1_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1), mRNA.	55					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACTACAAGATCCAGGTAAGGG	0.527000														55			7		0	0	0.000157383	0	0
TP63	8626	broad.mit.edu	37	3	189607225	189607226	+	Missense_Mutation	DNP	CC	TA	TA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:189607225_189607226CC>TA	uc003fry.2	+	11	1693_1694	c.1604_1605CC>TA	c.(1603-1605)tcc>tTA	p.S535L	TP63_uc003frz.2_Missense_Mutation_p.S535L|TP63_uc010hzc.1_Intron|TP63_uc003fsc.2_Missense_Mutation_p.S441L|TP63_uc003fsd.2_Missense_Mutation_p.S441L|TP63_uc021xir.1_Intron|TP63_uc010hzd.1_Missense_Mutation_p.S356L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	535					DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|Notch signaling pathway|anti-apoptosis|cellular response to UV|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to X-ray|response to gamma radiation	Golgi apparatus|chromatin|cytosol|dendrite|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCATCCACCTCCCACTGCACAC	0.614000										HNSCC(45;0.13)				24			6		0	0	6.4e-05	0	0
OR2T12	127064	broad.mit.edu	37	1	248458150	248458150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248458150G>A	uc010pzj.2	-	0	731	c.731C>T	c.(730-732)gCt>gTt	p.A244V		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			TCCCACCACAGCCACATGTGA	0.507000														48			15		0	0	0.000308642	0	0
IDO1	3620	broad.mit.edu	37	8	39782275	39782275	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:39782275C>T	uc003xnm.3	+	7	805	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	231					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	p.R231C(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	CAGTGTTCTTCGCATATATTT	0.358000														39			5		0	0	0.00198382	0	0
INTS7	25896	broad.mit.edu	37	1	212190337	212190337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:212190337G>A	uc001hiw.2	-	3	623	c.400C>T	c.(400-402)Cct>Tct	p.P134S	INTS7_uc001hix.2_Missense_Mutation_p.P10S|INTS7_uc009xdb.2_Missense_Mutation_p.P134S|INTS7_uc001hiy.2_Missense_Mutation_p.P134S|INTS7_uc010pta.2_Missense_Mutation_p.P85S	NM_015434	NP_056249	Q9NVH2	INT7_HUMAN	Homo sapiens integrator complex subunit 7 (INTS7), transcript variant 1, mRNA.	134					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TTCCTCTCAGGAATTATTGAT	0.408000														132			23		0	0	0.00127121	0	0
ASAP1	50807	broad.mit.edu	37	8	131104305	131104305	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:131104305G>A	uc003yta.2	-	24	2714	c.2486C>T	c.(2485-2487)cCc>cTc	p.P829L	ASAP1_uc003ysz.2_Missense_Mutation_p.P640L|ASAP1_uc011liw.2_Missense_Mutation_p.P822L	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	829	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|SH3 domain binding|cytoskeletal adaptor activity|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GGGTGGTGGGGGAGGAGGCCT	0.562000														86			14		0	0	0.00244969	0	0
CPB1	1360	broad.mit.edu	37	3	148558567	148558567	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:148558567G>A	uc003ewl.3	+	3	390	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K		NM_001871	NP_001862	P15086	CBPB1_HUMAN	Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.	123					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			CAACAAGTGGGAAACGGTATG	0.423000														47			23		0	0	0.00127121	0	0
PRLR	5618	broad.mit.edu	37	5	35072711	35072711	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:35072711A>G	uc003jjm.3	-	5	1068	c.509T>C	c.(508-510)aTt>aCt	p.I170T	PRLR_uc003jjk.1_Missense_Mutation_p.I99T|PRLR_uc003jjg.2_Missense_Mutation_p.I170T|PRLR_uc003jjh.2_Missense_Mutation_p.I170T|PRLR_uc003jji.2_Missense_Mutation_p.I99T|PRLR_uc003jjj.2_Missense_Mutation_p.I170T|PRLR_uc003jjl.4_Missense_Mutation_p.I69T|PRLR_uc021xxl.1_Missense_Mutation_p.I170T|PRLR_uc010iuw.1_Missense_Mutation_p.I99T	NM_000949	NP_000940	P16471	PRLR_HUMAN	Homo sapiens prolactin receptor (PRLR), transcript variant 1, mRNA.	170	Fibronectin type-III 2.				T cell activation|activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TTTTAATCGAATTTCATACAG	0.443000														74			11		0	0	0.00185496	0	0
SMAD1	4086	broad.mit.edu	37	4	146467983	146467983	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:146467983C>T	uc003ikc.3	+	4	1320	c.904C>T	c.(904-906)Cct>Tct	p.P302S	SMAD1_uc003ikd.3_Missense_Mutation_p.P302S|SMAD1_uc010iov.3_Missense_Mutation_p.P302S|SMAD1_uc011cic.2_Missense_Mutation_p.P263S	NM_005900	NP_005891	Q15797	SMAD1_HUMAN	Homo sapiens SMAD family member 1 (SMAD1), transcript variant 1, mRNA.	302	MH2.				BMP signaling pathway|SMAD protein complex assembly|embryonic pattern specification|primary miRNA processing|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	I-SMAD binding|co-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					TTTCACTGATCCTTCCAACAA	0.463000														53			15		0	0	0.000308642	0	0
INHBA	3624	broad.mit.edu	37	7	41730140	41730140	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:41730140C>T	uc003thq.3	-	2	624	c.389_splice	c.e2-1	p.G130_splice	INHBA_uc003thr.3_Splice_Site_p.G130_splice	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	130					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						CCTGGCTGTTCCTGAAGATGA	0.478000										TSP Lung(11;0.080)				18			5		0	0	0.000602214	0	0
WDR60	55112	broad.mit.edu	37	7	158723148	158723148	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:158723148C>T	uc003woe.4	+	20	2646	c.2488C>T	c.(2488-2490)Ctg>Ttg	p.L830L	WDR60_uc010lqv.3_Non-coding_Transcript|WDR60_uc010lqw.3_Silent_p.L462L	NM_018051	NP_060521	Q8WVS4	WDR60_HUMAN	Homo sapiens WD repeat domain 60 (WDR60), mRNA.	830										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		CTTTTTAGGTCTGATGCCTGG	0.398000														36			6		0	0	0.00198382	0	0
TLR5	7100	broad.mit.edu	37	1	223285326	223285326	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:223285326C>T	uc021pjl.1	-	0	1048	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	TLR5_uc001hnv.2_Missense_Mutation_p.E350K|TLR5_uc001hnw.2_Missense_Mutation_p.E350K	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	350					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CTGTAAAGTTCCCCCAGAAGG	0.363000														86			24		0	0	0.00047179	0	0
EFHB	151651	broad.mit.edu	37	3	19924107	19924107	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:19924107G>A	uc003cbl.4	-	11	2459	c.2263C>T	c.(2263-2265)Cct>Tct	p.P755S	EFHB_uc003cbm.3_Missense_Mutation_p.P625S	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	755					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						AAAATGGTAGGATATAGTAGT	0.393000														17			6		0	0	0.00116845	0	0
PITPNM1	9600	broad.mit.edu	37	11	67269420	67269420	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:67269420G>A	uc001olx.3	-	3	742	c.553C>T	c.(553-555)Ccc>Tcc	p.P185S	PITPNM1_uc001oly.3_Missense_Mutation_p.P185S|PITPNM1_uc001olz.3_Missense_Mutation_p.P185S	NM_004910	NP_004901	O00562	PITM1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 1 (PITPNM1), transcript variant 1, mRNA.	185					brain development|lipid metabolic process|phototransduction|protein transport	Golgi cisterna membrane|cleavage furrow|endoplasmic reticulum membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CACATAAGGGGCCCCGTCTGT	0.587000														17			4		0	0	0.000602214	0	0
KRTAP11-1	337880	broad.mit.edu	37	21	32253626	32253626	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr21:32253626C>T	uc002yov.3	-	0	249	c.218G>A	c.(217-219)cGa>cAa	p.R73Q		NM_175858	NP_787054	Q8IUC1	KR111_HUMAN	Homo sapiens keratin associated protein 11-1 (KRTAP11-1), mRNA.	73						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						ACATGAAGTTCGCCGGTAACA	0.552000														20			9		0	0	0.000673444	0	0
FREM1	158326	broad.mit.edu	37	9	14823287	14823287	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:14823287G>A	uc003zlm.3	-	13	3024	c.2208C>T	c.(2206-2208)ccC>ccT	p.P736P	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	736					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGTCTTGCATGGGGGGCATGT	0.443000														45			43		0	0	0.000781405	0	0
C22orf23	84645	broad.mit.edu	37	22	38340449	38340449	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:38340449C>T	uc003auj.2	-	5	766	c.557G>A	c.(556-558)gGa>gAa	p.G186E	C22orf23_uc021wpl.1_Missense_Mutation_p.G165E	NM_032561	NP_115950	Q9BZE7	EVG1_HUMAN	Homo sapiens chromosome 22 open reading frame 23 (C22orf23), transcript variant 1, mRNA.	186										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					AAGGATGATTCCTCGGTACTG	0.557000														26			13		0	0	0.000566183	0	0
ZNF609	23060	broad.mit.edu	37	15	64967429	64967429	+	Silent	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:64967429C>G	uc002ann.3	+	3	2376	c.2376C>G	c.(2374-2376)gcC>gcG	p.A792A		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	792						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGGCTGAAGCCGACAAGATCT	0.542000														13			22		0	0	0.00047179	0	0
RP1	6101	broad.mit.edu	37	8	55539817	55539817	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:55539817C>T	uc003xsd.1	+	3	3523	c.3375C>T	c.(3373-3375)tcC>tcT	p.S1125S	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1125					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTAATTCATCCACTAATCTCC	0.418000														60			7		0	0	0.00198382	0	0
GBP1	2633	broad.mit.edu	37	1	89524531	89524531	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:89524531C>T	uc001dmx.2	-	4	844	c.624G>A	c.(622-624)ctG>ctA	p.L208L		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	208					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TACCTTTCTTCAGCTTCAGGG	0.423000														64			9		0	0	0.000442599	0	0
RCAN2	10231	broad.mit.edu	37	2	174094427	174094427	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:174094427C>T	uc002uhz.3	+	11	1198	c.998C>T	c.(997-999)tCc>tTc	p.S333F	MLK7-AS1_uc002uib.3_Intron	NM_016653	NP_057737	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CTGCTGCCTTCCTTTGAGATT	0.373000														92			21		0	0	0.000878237	0	0
abParts	0	broad.mit.edu	37	14	107170072	107170072	+	RNA	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:107170072G>A	uc021ser.1	-	44		c.2812C>T								Parts of antibodies, mostly variable regions.																		AGATAGGGATGATCCCTCCCA	0.557000														28			5		0	0	0.00198382	0	0
DNAH7	56171	broad.mit.edu	37	2	196642534	196642534	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:196642534G>A	uc002utj.4	-	58	11155	c.11054C>T	c.(11053-11055)cCt>cTt	p.P3685L	DNAH7_uc002uti.4_Missense_Mutation_p.P168L	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3685					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCACCAGAAGGAGGAACAAA	0.368000														54			5		0	0	0.00116845	0	0
C12orf12	196477	broad.mit.edu	37	12	91347786	91347786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:91347786C>T	uc001tbj.3	-	0	1168	c.734G>A	c.(733-735)gGa>gAa	p.G245E		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	245										NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						TTCCTGCAGTCCCCAGGTTTC	0.627000														81			34		0	0	0.000692331	0	0
CPNE4	131034	broad.mit.edu	37	3	131442365	131442365	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:131442365G>A	uc011blq.2	-	2	449	c.339C>T	c.(337-339)gtC>gtT	p.V113V	CPNE4_uc003eok.3_Silent_p.V95V|CPNE4_uc003eol.3_Silent_p.V113V|CPNE4_uc003eom.3_Silent_p.V95V	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	95	C2 1.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TGATGTCATGGACTTCAAACC	0.527000														104			33		0	0	0.000953801	0	0
MYH15	22989	broad.mit.edu	37	3	108107918	108107918	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:108107918G>A	uc003dxa.1	-	38	5551	c.5494C>T	c.(5494-5496)Cgt>Tgt	p.R1832C		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	1832						myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|motor activity	p.R1832S(2)		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						TCCAGTTCACGAACCTGCAAC	0.517000														32			5		0	0	0.00116845	0	0
TBC1D3B	414059	broad.mit.edu	37	17	34499216	34499216	+	Silent	SNP	G	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:34499216G>T	uc002hky.2	-	6	645	c.495C>A	c.(493-495)acC>acA	p.T165T	DQ571391_uc002hla.1_5'Flank|DQ593188_uc021tvb.1_5'Flank|DQ586142_uc002hlc.3_5'Flank|DQ575686_uc021tvc.1_5'Flank|DQ580080_uc021tvd.1_5'Flank	NM_001001417	NP_001001417	A6NDS4	TBC3B_HUMAN	Homo sapiens TBC1 domain family, member 3B (TBC1D3B), mRNA.	165	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.G164*(1)		endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGCTTACTTGGTTCCGTATC	0.577000														148			8		0.00185496	0.00620142	0.00185496	1	0
CD33	945	broad.mit.edu	37	19	51729580	51729580	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:51729580C>T	uc002pwa.2	+	3	753	c.713C>T	c.(712-714)cCa>cTa	p.P238L	CD33_uc010eos.1_Missense_Mutation_p.P238L|CD33_uc010eot.1_Missense_Mutation_p.P111L|CD33_uc010eou.1_Intron	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	238					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CCACAGAACCCAACAACTGGT	0.512000														43			5		0	0	0.00116845	0	0
VPS37D	155382	broad.mit.edu	37	7	73085385	73085385	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:73085385G>A	uc003tyr.3	+	3	550	c.435G>A	c.(433-435)gaG>gaA	p.E145E		NM_001077621	NP_001071089	Q86XT2	VP37D_HUMAN	Homo sapiens vacuolar protein sorting 37 homolog D (S. cerevisiae) (VPS37D), mRNA.	145	VPS37 C-terminal.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				central_nervous_system(1)|ovary(1)	2		Lung NSC(55;0.0908)|all_lung(88;0.198)				AAAGCCTGGAGGCCTTCCTGC	0.692000														48			5		0	0	0.000602214	0	0
SLC1A4	6509	broad.mit.edu	37	2	65216839	65216839	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:65216839G>A	uc010yqa.2	+	0	345	c.62G>A	c.(61-63)gGg>gAg	p.G21E	SLC1A4_uc010ypz.2_Intron	NM_003038	NP_003029	P43007	SATT_HUMAN	Homo sapiens solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 (SLC1A4), transcript variant 1, mRNA.	21					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|chloride channel activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CCTGCGGCCGGGCCCGGAGCT	0.736000														6			4		0	0	0.000602214	0	0
MMP16	4325	broad.mit.edu	37	8	89053923	89053923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:89053923C>T	uc003yeb.4	-	9	1872	c.1590G>A	c.(1588-1590)atG>atA	p.M530I		NM_005941	NP_005932	P51512	MMP16_HUMAN	Homo sapiens matrix metallopeptidase 16 (membrane-inserted) (MMP16), mRNA.	530	Hemopexin-like 4.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	p.F529L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						CATCACAGCCCATAAAATCCT	0.428000														41			8		0	0	0.000157383	0	0
MORC2	22880	broad.mit.edu	37	22	31333864	31333864	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:31333864T>C	uc003aje.1	-	14	2485	c.1121A>G	c.(1120-1122)tAc>tGc	p.Y374C		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	436							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CAGGTGCCGGTACTCCTTGGC	0.582000														34			10		0	0	0.000673444	0	0
SIRPG	55423	broad.mit.edu	37	20	1616841	1616841	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:1616841G>A	uc002wfm.1	-	2	806	c.741C>T	c.(739-741)gcC>gcT	p.A247A	SIRPG_uc002wfn.1_Silent_p.A247A|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	247					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of T cell activation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						TACCTCGGATGGCCTCAGACA	0.627000														32			5		0	0	0.000602214	0	0
FBXO15	201456	broad.mit.edu	37	18	71740773	71740773	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:71740773C>T	uc002llf.2	-	9	1536	c.1456G>A	c.(1456-1458)Gaa>Aaa	p.E486K	FBXO15_uc002lld.2_Non-coding_Transcript|FBXO15_uc002lle.2_Missense_Mutation_p.E410K	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	410										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		AGGTATTCTTCGGTCTCTCTG	0.453000														140			30		0	0	0.000953801	0	0
FTHL17	53940	broad.mit.edu	37	X	31089887	31089887	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:31089887C>T	uc004dcl.1	-	0	284	c.184G>A	c.(184-186)Gac>Aac	p.D62N		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA.	62	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	p.D61E(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						TCCATTTTGTCGTCCGACAGG	0.577000														35			19		0	0	0.00188189	0	0
TNR	7143	broad.mit.edu	37	1	175331865	175331865	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:175331865C>T	uc001gkp.1	-	11	2869	c.2788G>A	c.(2788-2790)Gaa>Aaa	p.E930K	TNR_uc009wwu.1_Missense_Mutation_p.E930K	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	930	Fibronectin type-III 7.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.E930K(4)|p.Y929Y(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGCTGATTTCGTATTCGGTA	0.532000														31			6		0	0	0.00116845	0	0
TTN	7273	broad.mit.edu	37	2	179642503	179642503	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179642503C>T	uc021vsy.1	-	24	4633	c.4408G>A	c.(4408-4410)Gaa>Aaa	p.E1470K	TTN_uc021vsz.1_Missense_Mutation_p.E1424K|TTN_uc021vta.1_Missense_Mutation_p.E1424K|TTN_uc021vtb.1_Missense_Mutation_p.E1424K|TTN_uc002unb.2_Missense_Mutation_p.E1470K|AK123298_uc002unc.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1470	Ig-like 6.						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)			GTTTGCCCTTCTAAACATTTG	0.413000														32			18		0	0	0.00074312	0	0
VPS45	11311	broad.mit.edu	37	1	150049782	150049782	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:150049782C>T	uc001etp.3	+	6	1185	c.612C>T	c.(610-612)ttC>ttT	p.F204F	VPS45_uc010pbp.1_Non-coding_Transcript|VPS45_uc010pbq.2_Silent_p.F168F|VPS45_uc010pbs.2_Silent_p.F99F|VPS45_uc001etq.3_Silent_p.F24F|VPS45_uc009wlm.1_Silent_p.F180F|VPS45_uc010pbr.1_Silent_p.F168F	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	Homo sapiens vacuolar protein sorting 45 homolog (S. cerevisiae) (VPS45), mRNA.	204					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	Golgi membrane|endosome membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	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)			TGTTTGAATTCCGTCGGACAG	0.393000														43			7		0	0	0.000157383	0	0
ACLY	47	broad.mit.edu	37	17	40070107	40070107	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:40070107G>A	uc002hyg.3	-	1	183	c.20C>T	c.(19-21)tCa>tTa	p.S7L	ACLY_uc002hyh.3_Missense_Mutation_p.S7L|ACLY_uc002hyi.3_Missense_Mutation_p.S61L|ACLY_uc010wfx.2_Missense_Mutation_p.S61L|ACLY_uc010wfy.2_Missense_Mutation_p.S7L	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	7					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)				CGTCTGCTCTGAAATTGCCTT	0.547000														93			41		0	0	0.00285205	0	0
MYH7	4625	broad.mit.edu	37	14	23886167	23886167	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:23886167G>A	uc001wjx.3	-	32	4660	c.4554C>T	c.(4552-4554)tcC>tcT	p.S1518S		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1518					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCTTTCCGCTGGAACCCAACT	0.592000														37			12		0	0	0.000422831	0	0
POPDC2	64091	broad.mit.edu	37	3	119367329	119367329	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:119367329G>A	uc003ecx.1	-	2	921	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C	POPDC2_uc010hqw.1_Missense_Mutation_p.R263C|POPDC2_uc003ecy.1_Missense_Mutation_p.R81C	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN	Homo sapiens popeye domain containing 2 (POPDC2), mRNA.	263						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		CTGGGAAGGCGGATGTCAAAG	0.557000														38			7		0	0	0.00198382	0	0
PLXNA2	5362	broad.mit.edu	37	1	208217962	208217962	+	Silent	SNP	G	A	A	rs139061737		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:208217962G>A	uc001hgz.3	-	19	4523	c.3765C>T	c.(3763-3765)atC>atT	p.I1255I		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1255					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CAATGAGGACGATGATGACGA	0.582000														44			7		0	0	0.000157383	0	0
SCML2	10389	broad.mit.edu	37	X	18338463	18338463	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:18338463A>T	uc004cyl.2	-	5	632	c.475T>A	c.(475-477)Tta>Ata	p.L159I	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Missense_Mutation_p.L159I|SCML2_uc011miz.1_Missense_Mutation_p.L93I	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	159					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TTCTTAAATAATGTGGCAGAT	0.348000														54			22		0	0	0.00278032	0	0
CCNB3	85417	broad.mit.edu	37	X	50052923	50052923	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:50052923C>T	uc004dox.4	+	5	2052	c.1754C>T	c.(1753-1755)tCg>tTg	p.S585L	CCNB3_uc004doy.3_Missense_Mutation_p.S585L|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	585					cell division|meiosis|regulation of G2/M transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	nucleus	protein kinase binding	p.S585L(3)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ACCAAGACATCGTTGTCTTTA	0.398000														9			5		0	0	0.000602214	0	0
ZAN	7455	broad.mit.edu	37	7	100349969	100349969	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:100349969C>T	uc003uwj.3	+	13	2406	c.2241C>T	c.(2239-2241)atC>atT	p.I747I	ZAN_uc003uwk.3_Silent_p.I747I|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	747	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AACCCACCATCCCCACAGAAA	0.517000														14			25		0	0	0.00127121	0	0
ASB5	140458	broad.mit.edu	37	4	177146477	177146477	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:177146477C>T	uc003iuq.2	-	1	326	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	ASB5_uc003iup.2_Missense_Mutation_p.R18Q	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	71					intracellular signal transduction			p.R71*(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TAGTGGTGATCGATCTGCCCA	0.358000														45			13		0	0	0.00244969	0	0
KIAA0430	9665	broad.mit.edu	37	16	15706616	15706616	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:15706616G>A	uc002ddr.3	-	16	3479	c.3272C>T	c.(3271-3273)tCg>tTg	p.S1091L	KIAA0430_uc002ddq.3_Missense_Mutation_p.S925L|KIAA0430_uc010uzv.2_Missense_Mutation_p.S1088L|KIAA0430_uc010uzw.2_Missense_Mutation_p.S1091L	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	1090						peroxisome	RNA binding|nucleotide binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGGACTCTTCGAACGCAGAAG	0.473000														101			24		0	0	0.000720815	0	0
SORCS3	22986	broad.mit.edu	37	10	106916913	106916913	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:106916913G>A	uc001kyi.1	+	9	1727	c.1500G>A	c.(1498-1500)ggG>ggA	p.G500G		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	500						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)		GTATCAAAGGGATATTTCTGG	0.507000														26			9		0	0	0.000673444	0	0
CHAT	1103	broad.mit.edu	37	10	50827771	50827772	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:50827771_50827772GG>AA	uc001jhz.2	+	3	541	c.388_splice	c.e3-1	p.G130_splice	CHAT_uc001jhv.1_Splice_Site_p.G12_splice|CHAT_uc001jhx.1_Splice_Site_p.G12_splice|CHAT_uc001jhy.1_Splice_Site_p.G12_splice|CHAT_uc001jia.2_Splice_Site_p.G48_splice|CHAT_uc010qgs.1_Splice_Site_p.G12_splice	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	130					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.G130E(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TTTCTTCCAGGGGCTGCCCAAA	0.584000														14			5		0	0	6.4e-05	0	0
HOXA6	3203	broad.mit.edu	37	7	27186993	27186993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:27186993C>T	uc003syo.2	-	0	401	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	HOXA-AS3_uc003syr.2_Intron|HOXA-AS3_uc003syp.2_Missense_Mutation_p.R26C|HOXA6_uc003syq.1_Non-coding_Transcript	NM_024014	NP_076919	P31267	HXA6_HUMAN	Homo sapiens homeobox A6 (HOXA6), mRNA.	126						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						TCGGCGCCTTCGTCATGGAGT	0.617000														45			9		0	0	0.000274275	0	0
PXMP4	11264	broad.mit.edu	37	20	32298409	32298409	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:32298409G>A	uc002wzv.3	-	2	450	c.327C>T	c.(325-327)ttC>ttT	p.F109F	PXMP4_uc002wzw.3_Intron|PXMP4_uc010zuh.2_Missense_Mutation_p.S116F	NM_007238	NP_009169	Q9Y6I8	PXMP4_HUMAN	Homo sapiens peroxisomal membrane protein 4, 24kDa (PXMP4), transcript variant 1, mRNA.	109						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity			NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TACCCCCGAGGAAGGCCGCCA	0.557000														36			5		0	0	0.00198382	0	0
C3P1	388503	broad.mit.edu	37	19	10157492	10157492	+	RNA	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:10157492T>C	uc010dwx.2	+	8		c.1326T>C								Homo sapiens complement component 3 precursor pseudogene (C3P1), non-coding RNA.											endometrium(4)|large_intestine(2)|lung(6)|urinary_tract(1)	13						CTGGAGGAAGTTCACTCTGCC	0.532000														38			9		0	0	0.000274275	0	0
ASPHD2	57168	broad.mit.edu	37	22	26829820	26829820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:26829820G>A	uc003acg.2	+	1	636	c.239G>A	c.(238-240)aGg>aAg	p.R80K		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 2 (ASPHD2), mRNA.	80					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CACGTGGGCAGGGAGCAGCCC	0.642000														27			8		0	0	0.000442599	0	0
SLC30A5	64924	broad.mit.edu	37	5	68412345	68412345	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:68412345C>T	uc003jvh.3	+	9	1504	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	SLC30A5_uc003jvj.3_Non-coding_Transcript|SLC30A5_uc003jvk.3_Silent_p.I128I|SLC30A5_uc003jvi.3_Silent_p.I228I	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 5 (SLC30A5), transcript variant 1, mRNA.	399					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	p.S398S(1)		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)		CTCAATCGATCCCTAGGTTTA	0.373000														44			36		0	0	0.000814825	0	0
RGS7	6000	broad.mit.edu	37	1	240969462	240969462	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:240969462C>T	uc001hyt.2	-	7	797	c.743G>A	c.(742-744)cGa>cAa	p.R248Q	RGS7_uc010pyh.2_Missense_Mutation_p.R390Q|RGS7_uc010pyj.1_Missense_Mutation_p.R332Q|RGS7_uc001hyu.2_Missense_Mutation_p.R416Q|RGS7_uc009xgn.1_Missense_Mutation_p.R363Q|RGS7_uc001hyv.2_Missense_Mutation_p.R416Q|RGS7_uc001hyw.2_Missense_Mutation_p.R416Q	NM_002924	NP_002915	P49802	RGS7_HUMAN	Homo sapiens regulator of G-protein signaling 7 (RGS7), mRNA.	416					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			AAATGTGTATCGTCCAGGTTC	0.453000														52			7		0	0	0.000442599	0	0
BCL6	604	broad.mit.edu	37	3	187442854	187442854	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:187442854G>A	uc003frp.3	-	8	2309	c.1852C>T	c.(1852-1854)Cgt>Tgt	p.R618C	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.R562C|BCL6_uc010hza.2_Missense_Mutation_p.R516C|BCL6_uc003frq.2_Missense_Mutation_p.R618C	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	618					negative regulation of B cell apoptosis|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		ACATGGGCACGGAGGTGGGCC	0.587000			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""									30			5		0	0	0.00116845	0	0
KLK5	25818	broad.mit.edu	37	19	51452217	51452217	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:51452217G>A	uc002pue.3	-	4	708	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C	KLK5_uc002puf.3_Missense_Mutation_p.R164C|KLK5_uc002pug.3_Missense_Mutation_p.R164C	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	164	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.R164C(2)		NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TTAGTGGGACGAATTCTTCTG	0.547000														35			7		0	0	0.000157383	0	0
FAM113B	91523	broad.mit.edu	37	12	47628852	47628852	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:47628852C>T	uc001rpq.3	+	1	531	c.6C>T	c.(4-6)atC>atT	p.I2I	FAM113B_uc001rpn.3_Silent_p.I2I|FAM113B_uc021qxi.1_Silent_p.I2I	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	2							hydrolase activity			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					GCGTCATGATCCTTCTGCGGG	0.592000														23			5		0	0	0.00198382	0	0
ERN2	10595	broad.mit.edu	37	16	23718080	23718080	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:23718080C>T	uc002dma.4	-	5	795	c.626G>A	c.(625-627)cGa>cAa	p.R209Q	ERN2_uc010bxp.3_Missense_Mutation_p.R209Q|ERN2_uc010bxq.1_Missense_Mutation_p.R17Q	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	161					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)		CTCACGTGTTCGGCCAATGTA	0.587000														34			10		0	0	0.00244969	0	0
SLC12A9	56996	broad.mit.edu	37	7	100456718	100456718	+	Silent	SNP	C	T	T	rs148415163		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:100456718C>T	uc003uwp.3	+	6	1054	c.912C>T	c.(910-912)gtC>gtT	p.V304V	SLC12A9_uc003uwq.3_Silent_p.V215V|SLC12A9_uc011kki.2_5'UTR|SLC12A9_uc003uwr.3_Silent_p.V40V|SLC12A9_uc003uws.3_Intron|SLC12A9_uc003uwt.3_Silent_p.V40V|SLC12A9_uc003uwv.3_5'UTR	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	304						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCACGATCGTCGCCGTCGCCT	0.622000														156			17		0	0	0.000878237	0	0
PLEKHH2	130271	broad.mit.edu	37	2	43973083	43973083	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:43973083C>T	uc010yny.2	+	23	3717	c.3634C>T	c.(3634-3636)Cgt>Tgt	p.R1212C		NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 (PLEKHH2), mRNA.	1212	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AAGGACTGTTCGTCTGACATA	0.378000														135			113		0	0	0.000781405	0	0
PLIN5	440503	broad.mit.edu	37	19	4523637	4523637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:4523637C>T	uc002mas.3	-	7	1348	c.1295G>A	c.(1294-1296)gGg>gAg	p.G432E		NM_001013706	NP_001013728	Q00G26	PLIN5_HUMAN	Homo sapiens perilipin 5 (PLIN5), mRNA.	432						lipid particle				endometrium(4)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	10						CATCCTGTCCCCATCCCCATT	0.692000											OREG0025168	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			14		0	0	0.000308642	0	0
SSX2IP	117178	broad.mit.edu	37	1	85116084	85116084	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:85116084G>A	uc001dki.3	-	13	1957	c.1631C>T	c.(1630-1632)tCa>tTa	p.S544L	SSX2IP_uc001dkf.3_Missense_Mutation_p.S516L|SSX2IP_uc001dkh.3_Missense_Mutation_p.S544L|SSX2IP_uc010orz.2_Missense_Mutation_p.S517L|SSX2IP_uc001dkg.3_Non-coding_Transcript|SSX2IP_uc010osa.2_Missense_Mutation_p.S517L|SSX2IP_uc001dkj.3_Missense_Mutation_p.S544L|SSX2IP_uc009wci.3_Missense_Mutation_p.S63L	NM_014021	NP_001159767	Q9Y2D8	ADIP_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 2 interacting protein (SSX2IP), transcript variant 5, mRNA.	544					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GCAAAAGTCTGAAGTGGAAGG	0.423000														102			27		0	0	0.000878237	0	0
F8	2157	broad.mit.edu	37	X	154157568	154157568	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:154157568G>A	uc004fmt.3	-	13	4668	c.4497C>T	c.(4495-4497)ctC>ctT	p.L1499L		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1499	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)	CTGGTTTCGGGAGAACAGTGT	0.443000														20			26		0	0	0.000878237	0	0
COLQ	8292	broad.mit.edu	37	3	15531048	15531048	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:15531048C>T	uc003bzx.3	-	1	329	c.203G>A	c.(202-204)aGa>aAa	p.R68K	HACL1_uc011avr.1_Non-coding_Transcript|COLQ_uc003bzv.3_Missense_Mutation_p.R58K|COLQ_uc010heo.3_Missense_Mutation_p.R68K|COLQ_uc003cad.1_Non-coding_Transcript|COLQ_uc003cae.1_5'UTR	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA.	68					acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TCGGCCACCTCTGAAGAATGG	0.582000														36			5		0	0	0.000602214	0	0
FAM83F	113828	broad.mit.edu	37	22	40417688	40417688	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:40417688C>T	uc003ayk.1	+	3	1268	c.1174C>T	c.(1174-1176)Ccc>Tcc	p.P392S		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	392										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						GGAGCCCATCCCCTTGGGAGA	0.652000														23			7		0	0	0.00198382	0	0
MRC1	4360	broad.mit.edu	37	10	17949596	17949596	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:17949596G>A	uc001ipk.3	+	27	4063	c.3960G>A	c.(3958-3960)tgG>tgA	p.W1320*		NM_002438	NP_002429	P22897	MRC1_HUMAN	Homo sapiens mannose receptor, C type 1 (MRC1), mRNA.	1320	C-type lectin 8.				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity			breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						TTGTCAACTGGAACACAGGAG	0.393000														22			11		0	0	0.000958276	0	0
ZNF230	7773	broad.mit.edu	37	19	44514591	44514591	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:44514591C>T	uc002oyb.1	+	4	651	c.400C>T	c.(400-402)Cat>Tat	p.H134Y		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	Homo sapiens zinc finger protein 230 (ZNF230), mRNA.	134	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				ATCTATAATTCATACAGGACA	0.438000														46			8		0	0	0.000442599	0	0
OR4C15	81309	broad.mit.edu	37	11	55322893	55322893	+	Nonstop_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:55322893T>C	uc010rig.2	+	0	1111	c.1111T>C	c.(1111-1113)Taa>Caa	p.*371Q		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L370L(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TATTAAACTTTAAAAAATCCA	0.303000										HNSCC(20;0.049)				16			4		0	0	0.00024832	0	0
OR2L13	284521	broad.mit.edu	37	1	248263174	248263174	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248263174C>T	uc001ids.3	+	2	834	c.497C>T	c.(496-498)cCc>cTc	p.P166L	OR2L13_uc021pmc.1_Missense_Mutation_p.P166L	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CTTCATATTCCCTACTGCAGG	0.458000														84			20		0	0	0.000958276	0	0
MYH2	4620	broad.mit.edu	37	17	10432765	10432765	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:10432765G>A	uc010coi.3	-	24	3279	c.3151C>T	c.(3151-3153)Cgc>Tgc	p.R1051C	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1051C|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.	1051					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	ATP binding|actin binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1051C(2)|p.R1051H(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						AGGTCCATGCGAAGTTTCTTT	0.383000														52			26		0	0	0.00106085	0	0
AGGF1	55109	broad.mit.edu	37	5	76331503	76331504	+	Missense_Mutation	DNP	CC	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:76331503_76331504CC>AA	uc003ket.3	+	2	833_834	c.451_452CC>AA	c.(451-453)cct>AAt	p.P151N	AGGF1_uc003kes.3_Missense_Mutation_p.P151N|AGGF1_uc003keu.1_Non-coding_Transcript	NM_018046	NP_060516	Q8N302	AGGF1_HUMAN	Homo sapiens angiogenic factor with G patch and FHA domains 1 (AGGF1), mRNA.	151					RNA processing|angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		TGATGCTTACCCTGGTACCGAT	0.342000														437			16		0	0	6.4e-05	0	0
LGR4	55366	broad.mit.edu	37	11	27393943	27393943	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:27393943G>A	uc001mrj.4	-	15	1867	c.1382C>T	c.(1381-1383)tCt>tTt	p.S461F	LGR4_uc001mrk.4_Missense_Mutation_p.S437F	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	461						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TACTGATAAAGACCTGGAAAA	0.378000														48			10		0	0	0.000978159	0	0
SCUBE3	222663	broad.mit.edu	37	6	35209380	35209380	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:35209380C>T	uc003okf.1	+	10	1262	c.1256C>T	c.(1255-1257)tCt>tTt	p.S419F	SCUBE3_uc003okg.1_Missense_Mutation_p.S418F|SCUBE3_uc003okh.1_Missense_Mutation_p.S306F	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	419					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						TGCAACCGGTCTGGCAAGAAG	0.582000											OREG0017372	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		79			8		0	0	0.000274275	0	0
PBX3	5090	broad.mit.edu	37	9	128723127	128723127	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:128723127C>T	uc004bqb.3	+	6	1125	c.1009_splice	c.e6+1	p.G337_splice	PBX3_uc004bqc.3_Splice_Site_p.G156_splice|PBX3_uc004bqd.3_Splice_Site_p.G156_splice|PBX3_uc011lzw.2_Splice_Site_p.G262_splice|PBX3_uc011lzx.2_Splice_Site_p.G248_splice|PBX3_uc004bqe.3_Splice_Site_p.G245_splice	NM_006195	NP_001128250	P40426	PBX3_HUMAN	Homo sapiens pre-B-cell leukemia homeobox 3 (PBX3), transcript variant 1, mRNA.	337					anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						CACCAAATTCCGGTGCGTACT	0.587000														8			4		0	0	0.000602214	0	0
TTN	7273	broad.mit.edu	37	2	179569999	179569999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179569999C>T	uc021vsy.1	-	99	25999	c.25774G>A	c.(25774-25776)Gaa>Aaa	p.E8592K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E5253K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9519	Ig-like 68.						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)			GCATATTTTTCATATTCTTTA	0.368000														42			9		0	0	0.000442599	0	0
CDC42EP1	11135	broad.mit.edu	37	22	37964152	37964152	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:37964152C>T	uc003asz.4	+	2	904	c.501C>T	c.(499-501)ccC>ccT	p.P167P		NM_152243	NP_689449	Q00587	BORG5_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.	167					positive regulation of pseudopodium assembly|regulation of cell shape	Golgi apparatus|actin cytoskeleton|endomembrane system|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CCCGCCTGCCCCGCTCGGAAA	0.637000														51			13		0	0	0.000566183	0	0
LAPTM5	7805	broad.mit.edu	37	1	31208062	31208062	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:31208062C>T	uc001bsc.2	-	6	748	c.657G>A	c.(655-657)atG>atA	p.M219I		NM_006762	NP_006753	Q13571	LAPM5_HUMAN	Homo sapiens lysosomal protein transmembrane 5 (LAPTM5), mRNA.	219					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		CCACCGAGTTCATGCACTTGA	0.547000														102			25		0	0	0.000720815	0	0
FIGNL1	63979	broad.mit.edu	37	7	50514458	50514458	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:50514458G>A	uc003tpd.3	-	3	898	c.528C>T	c.(526-528)ttC>ttT	p.F176F	FIGNL1_uc003tpb.3_Silent_p.F65F|FIGNL1_uc003tpc.3_Silent_p.F176F|FIGNL1_uc003tpe.3_Silent_p.F176F|FIGNL1_uc010kyy.3_Silent_p.F176F|FIGNL1_uc022ada.1_Silent_p.F176F	NM_022116	NP_071399	Q6PIW4	FIGL1_HUMAN	Homo sapiens fidgetin-like 1 (FIGNL1), transcript variant 2, mRNA.	176					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				TGCTCTCCGGGAAGTCTTGGG	0.468000														172			33		0	0	0.00111076	0	0
IL6R	3570	broad.mit.edu	37	1	154422452	154422452	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:154422452C>T	uc001fez.2	+	7	1499	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	IL6R_uc001ffa.2_Silent_p.L354L	NM_000565	NP_000556	P08887	IL6RA_HUMAN	Homo sapiens interleukin 6 receptor (IL6R), transcript variant 1, mRNA.	354					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of MAPKKK cascade|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CGACAAGCCTCCCAGGTAAGG	0.428000														47			19		0	0	0.00229938	0	0
OR4D2	124538	broad.mit.edu	37	17	56247303	56247303	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:56247303G>A	uc010wnp.2	+	0	287	c.287G>A	c.(286-288)gGc>gAc	p.G96D		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						TCTTACCAGGGCTGCATGGGT	0.527000														74			12		0	0	0.00136819	0	0
LILRB3	11025	broad.mit.edu	37	19	54803129	54803129	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:54803129G>A	uc002qfd.3	-	3	640	c.548C>T	c.(547-549)tCc>tTc	p.S183F	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Intron	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	182	Ig-like C2-type 2.				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)		GGGGCCCACGGAGAAGATGGC	0.572000														28			12		0	0	0.00185496	0	0
CHRNA9	55584	broad.mit.edu	37	4	40356167	40356167	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:40356167G>A	uc003gva.1	+	4	1086	c.1070G>A	c.(1069-1071)aGc>aAc	p.S357N		NM_017581	NP_060051	Q9UGM1	ACHA9_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 9 (CHRNA9), mRNA.	357					elevation of cytosolic calcium ion concentration|synaptic transmission	cell junction|postsynaptic membrane	calcium channel activity|receptor activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(4)|stomach(1)	33					Nicotine(DB00184)	GTGGGTGAAAGCTGCCTCAGC	0.557000														73			15		0	0	0.000422831	0	0
FCRL6	343413	broad.mit.edu	37	1	159779212	159779212	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:159779212C>T	uc001fud.4	+	4	667	c.625C>T	c.(625-627)Ctc>Ttc	p.L209F	FCRL6_uc001fuc.2_Missense_Mutation_p.L216F|FCRL6_uc009wsz.1_Missense_Mutation_p.L114F|FCRL6_uc009wta.3_Missense_Mutation_p.L209F	NM_001004310	NP_001004310	Q6DN72	FCRL6_HUMAN	Homo sapiens Fc receptor-like 6 (FCRL6), mRNA.	209	Ig-like C2-type 3.					integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	24	all_hematologic(112;0.0597)					CCGTCCTGTGCTCACTCTGCA	0.647000														20			4		0	0	0.00198382	0	0
TNXB	7148	broad.mit.edu	37	6	32037969	32037969	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:32037969C>T	uc003nzl.2	-	13	5415	c.5213G>A	c.(5212-5214)aGa>aAa	p.R1738K		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1820					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						GAGGAGGAATCTGTACTTGCG	0.647000														109			10		0	0	0.00185496	0	0
MAPK15	225689	broad.mit.edu	37	8	144803264	144803264	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:144803264C>T	uc003yzj.3	+	9	1053	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	338					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GTACCGCAGCCGCGTCTATCA	0.657000														6			4		0	0	0.00024832	0	0
AFAP1	60312	broad.mit.edu	37	4	7776622	7776622	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:7776622G>T	uc011bwk.1	-	14	2179	c.1906C>A	c.(1906-1908)Cag>Aag	p.Q636K	AFAP1_uc003gkg.1_Missense_Mutation_p.Q552K|AFAP1-AS1_uc003gkd.4_Non-coding_Transcript	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	582	Interaction with F-actin (By similarity).					actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TACTTGTACTGGGCAGCATCT	0.453000														132			9		0.00244969	0.00818168	0.00244969	1	0
INSC	387755	broad.mit.edu	37	11	15222432	15222432	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:15222432C>T	uc001mlz.3	+	6	867	c.756C>T	c.(754-756)ccC>ccT	p.P252P	INSC_uc001mly.3_Silent_p.P299P|INSC_uc001mma.3_Silent_p.P252P|INSC_uc010rcs.2_Silent_p.P287P|INSC_uc001mmb.3_Silent_p.P252P|INSC_uc001mmc.3_Intron	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN	Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.	299					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						GCTTGTACCCCCAGGCGCTCC	0.587000														11			4		0	0	0.000602214	0	0
SNX13	23161	broad.mit.edu	37	7	17915119	17915119	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:17915119G>A	uc003stv.3	-	6	861	c.648C>T	c.(646-648)tcC>tcT	p.S216S	SNX13_uc010kuc.3_Silent_p.S13S|SNX13_uc003stw.1_Silent_p.S216S|SNX13_uc003stx.1_Silent_p.S136S	NM_015132	NP_055947	Q9Y5W8	SNX13_HUMAN	Homo sapiens sorting nexin 13 (SNX13), mRNA.	216	PXA.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					CATCTTTGGGGGAAGTGCACA	0.363000														73			12		0	0	0.00185496	0	0
ACTG1	71	broad.mit.edu	37	17	79479287	79479287	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:79479287G>A	uc002kak.2	-	1	352	c.94C>T	c.(94-96)Cct>Tct	p.P32S	ACTG1_uc002kag.3_Non-coding_Transcript|ACTG1_uc002kal.2_Missense_Mutation_p.P32S|ACTG1_uc021ufb.1_5'Flank	NM_001199954	NP_001186883	P63261	ACTG_HUMAN	Homo sapiens actin, gamma 1 (ACTG1), transcript variant 1, mRNA.	32					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			ACGATGGAAGGAAACACGGCT	0.657000														24			21		0	0	0.00229938	0	0
SPTBN2	6712	broad.mit.edu	37	11	66473164	66473164	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:66473164G>A	uc001ojd.3	-	12	1870	c.1798C>T	c.(1798-1800)Cca>Tca	p.P600S		NM_006946	NP_008877	O15020	SPTN2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 2 (SPTBN2), mRNA.	600					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCTTTCCCTGGGTTGCAGAAG	0.662000														15			4		0	0	0.000602214	0	0
PTK7	5754	broad.mit.edu	37	6	43096813	43096813	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:43096813C>T	uc011dve.1	+	1	244	c.202C>T	c.(202-204)Ccg>Tcg	p.P68S	PTK7_uc003oub.1_Missense_Mutation_p.P60S|PTK7_uc003ouc.1_Missense_Mutation_p.P60S|PTK7_uc003oud.1_Missense_Mutation_p.P60S|PTK7_uc003oue.1_Missense_Mutation_p.P60S|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc003oua.3_Missense_Mutation_p.P60S	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	60	Ig-like C2-type 1.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GGCTCCGGGCCCGGTACATGT	0.657000														29			11		0	0	0.000978159	0	0
GARS	2617	broad.mit.edu	37	7	30661969	30661969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:30661969G>A	uc003tbm.3	+	11	1861	c.1504G>A	c.(1504-1506)Gga>Aga	p.G502R		NM_002047	NP_002038	P41250	SYG_HUMAN	Homo sapiens glycyl-tRNA synthetase (GARS), mRNA.	502					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	ACCCAGTAAGGGAGCAATTGG	0.403000														89			7		0	0	0.00198382	0	0
LRRC8B	23507	broad.mit.edu	37	1	90049231	90049231	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:90049231C>T	uc001dni.3	+	6	1529	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	LRRC8B_uc001dnh.3_Missense_Mutation_p.S341F|LRRC8B_uc001dnj.3_Missense_Mutation_p.S341F	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.	341						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		CTGAGGAGTTCCCTGAAGCAA	0.423000														58			18		0	0	0.00152264	0	0
IGSF9B	22997	broad.mit.edu	37	11	133801384	133801384	+	Silent	SNP	G	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:133801384G>C	uc001qgx.4	-	9	1563	c.1332C>G	c.(1330-1332)gcC>gcG	p.A444A	IGSF9B_uc001qgy.1_Silent_p.A286A	NM_014987	NP_055802	Q9UPX0	TUTLB_HUMAN	Homo sapiens immunoglobulin superfamily, member 9B (IGSF9B), mRNA.	444	Ig-like 5.					integral to membrane|plasma membrane		p.V444M(1)		breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GGTCCCCTGCGGCAGCACAGG	0.662000														24			6		0	0	0.000274275	0	0
ATP8A2	51761	broad.mit.edu	37	13	26153975	26153975	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:26153975G>A	uc001uqk.3	+	21	2039	c.1897G>A	c.(1897-1899)Gat>Aat	p.D633N	ATP8A2_uc010tdi.2_Missense_Mutation_p.D593N|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Missense_Mutation_p.D143N	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	593					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GGCTTATGCTGATCTCTCTGA	0.532000														17			5		0	0	0.00116845	0	0
FLG2	388698	broad.mit.edu	37	1	152325161	152325161	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:152325161C>T	uc001ezw.4	-	2	5174	c.5101G>A	c.(5101-5103)Gat>Aat	p.D1701N	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1701							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)			CTAGTGGTATCTCCTGTCTGT	0.488000														81			15		0	0	0.000308642	0	0
SULT1C3	442038	broad.mit.edu	37	2	108863729	108863729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:108863729C>T	uc010ywo.2	+	0	79	c.79C>T	c.(79-81)Cct>Tct	p.P27S		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	27						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						AGATGGAGTCCCTACGTTGAT	0.418000														43			11		0	0	0.00136819	0	0
FAT3	120114	broad.mit.edu	37	11	92085467	92085467	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:92085467C>G	uc001pdj.4	+	0	206	c.189C>G	c.(187-189)aaC>aaG	p.N63K		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	63	Cadherin 1.				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)				CCTACGTCAACAGCCAGAGTA	0.493000										TCGA Ovarian(4;0.039)				137			33		0	0	0.000814825	0	0
SLC22A6	9356	broad.mit.edu	37	11	62748520	62748520	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:62748520G>A	uc001nwk.3	-	5	1307	c.974C>T	c.(973-975)tCg>tTg	p.S325L	SLC22A6_uc001nwl.3_Missense_Mutation_p.S325L|SLC22A6_uc001nwj.3_Missense_Mutation_p.S325L|SLC22A6_uc001nwm.3_Missense_Mutation_p.S325L	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	325					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTCCATGGCCGATGCCTGGCC	0.642000														14			5		0	0	0.00198382	0	0
OR5H6	79295	broad.mit.edu	37	3	97983751	97983751	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:97983751C>T	uc003dsi.1	+	0	623	c.623C>T	c.(622-624)tCc>tTc	p.S208F		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TGTACTGATTCCTCTATTAAC	0.299000														23			7		0	0	0.000274275	0	0
PRDM14	63978	broad.mit.edu	37	8	70981484	70981484	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:70981484G>A	uc003xym.3	-	1	814	c.612C>T	c.(610-612)ttC>ttT	p.F204F		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CGTACAGAACGAAGTGCAGGT	0.602000														35			31		0	0	0.00283554	0	0
AGMAT	79814	broad.mit.edu	37	1	15904240	15904240	+	Silent	SNP	C	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:15904240C>A	uc001awv.2	-	4	983	c.840G>T	c.(838-840)ctG>ctT	p.L280L	DNAJC16_uc001awu.3_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	Homo sapiens agmatine ureohydrolase (agmatinase) (AGMAT), mRNA.	280					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCAGGATCCAGAGCGTCAA	0.532000														45			5		0.000602214	0.00201677	0.000602214	1	0
SLC26A5	375611	broad.mit.edu	37	7	103029807	103029808	+	Missense_Mutation	DNP	GG	TA	TA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:103029807_103029808GG>TA	uc003vbz.3	-	12	1637_1638	c.1375_1376CC>TA	c.(1375-1377)ccc>TAc	p.P459Y	SLC26A5_uc003vbt.2_Missense_Mutation_p.P459Y|SLC26A5_uc003vbu.2_Missense_Mutation_p.P459Y|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Intron|SLC26A5_uc010liy.3_Intron|SLC26A5_uc003vbx.3_Intron	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	459					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CCAGAAAAAGGGGAGATCTGAG	0.436000														117			7		0	0	6.4e-05	0	0
RPS6KC1	26750	broad.mit.edu	37	1	213414579	213414579	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:213414579C>T	uc010ptr.2	+	10	1919	c.1760C>T	c.(1759-1761)tCa>tTa	p.S587L	RPS6KC1_uc001hkd.3_Missense_Mutation_p.S575L|RPS6KC1_uc010pts.2_Missense_Mutation_p.S375L|RPS6KC1_uc010ptt.2_Missense_Mutation_p.S375L|RPS6KC1_uc010ptu.2_Missense_Mutation_p.S406L|RPS6KC1_uc010ptv.2_Missense_Mutation_p.S122L|RPS6KC1_uc001hke.3_Missense_Mutation_p.S406L	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	587					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CCAAGAACATCAGATTCCCTC	0.473000														12			5		0	0	0.000602214	0	0
KCNU1	157855	broad.mit.edu	37	8	36675216	36675216	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:36675216C>G	uc010lvw.3	+	9	1131	c.1044C>G	c.(1042-1044)ttC>ttG	p.F348L	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	348	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.A347T(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TGACCGCTTTCCTGAGGAATT	0.453000														101			12		0	0	0.00136819	0	0
CALCR	799	broad.mit.edu	37	7	93072988	93072988	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:93072988G>A	uc003umv.2	-	10	1132	c.832C>T	c.(832-834)Ctt>Ttt	p.L278F	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.L244F|CALCR_uc003umw.2_Missense_Mutation_p.L244F	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	260					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	AGTGTATGAAGATAGATCCCT	0.438000														19			38		0	0	0.000781405	0	0
MAGEB1	4112	broad.mit.edu	37	X	30269117	30269117	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:30269117C>T	uc022buh.1	+	0	507	c.507C>T	c.(505-507)aaC>aaT	p.N169N	MAGEB1_uc004dcc.3_Silent_p.N169N|MAGEB1_uc004dcd.3_Silent_p.N169N|MAGEB1_uc004dce.3_Silent_p.N169N	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	169	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						AGGAAGACAACCCTAGTGGCC	0.493000														18			7		0	0	0.00198382	0	0
BPTF	2186	broad.mit.edu	37	17	65909118	65909118	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:65909118A>G	uc002jgf.3	+	10	5179	c.5118A>G	c.(5116-5118)ccA>ccG	p.P1706P	BPTF_uc002jge.3_Silent_p.P1832P	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	1832					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGCTCTGCCATCCTATAGAA	0.398000														61			11		0	0	0.00185496	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101816075	101816075	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:101816075G>A	uc003knn.3	-	1	594	c.422C>T	c.(421-423)aCc>aTc	p.T141I	SLCO6A1_uc003kno.3_Missense_Mutation_p.T141I|SLCO6A1_uc003knp.3_Missense_Mutation_p.T141I|SLCO6A1_uc003knq.3_Missense_Mutation_p.T141I	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	141						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CTTCTCAATGGTTTTCAGTTG	0.338000														48			14		0	0	0.00185496	0	0
ANK3	288	broad.mit.edu	37	10	61994473	61994473	+	Silent	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:61994473T>A	uc001jky.3	-	7	1208	c.870A>T	c.(868-870)cgA>cgT	p.R290R	ANK3_uc010qih.2_Silent_p.R273R|ANK3_uc001jkz.4_Silent_p.R284R|ANK3_uc001jlb.1_5'UTR	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	290					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTAGCTCCTCGATCGAGCA	0.383000														21			6		0	0	0.00198382	0	0
OCRL	4952	broad.mit.edu	37	X	128723830	128723831	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:128723830_128723831CC>TT	uc004euq.3	+	22	2643_2644	c.2478_2479CC>TT	c.(2476-2481)tcccag>tcTTag	p.Q827*	OCRL_uc004eur.3_Nonsense_Mutation_p.Q819*|OCRL_uc010nrb.3_Intron	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	827	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	Golgi stack|Golgi-associated vesicle|clathrin-coated vesicle|cytosol|early endosome	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AGGTGATCTCCCAGCTTCCGAG	0.396000														34			8		0	0	6.4e-05	0	0
ZNF230	7773	broad.mit.edu	37	19	44515568	44515568	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:44515568G>C	uc002oyb.1	+	4	1628	c.1377G>C	c.(1375-1377)agG>agC	p.R459S		NM_006300	NP_006291	Q9UIE0	ZN230_HUMAN	Homo sapiens zinc finger protein 230 (ZNF230), mRNA.	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				GCTACAAGAGGCGCTTGAATC	0.343000														17			7		0	0	0.000157383	0	0
MXRA5	25878	broad.mit.edu	37	X	3240653	3240653	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:3240653C>T	uc004crg.4	-	4	3230	c.3073G>A	c.(3073-3075)Gaa>Aaa	p.E1025K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1025						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACACCTGGTTCCCCTATAGTA	0.433000														45			17		0	0	0.00074312	0	0
DBC1	1620	broad.mit.edu	37	9	122075558	122075558	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:122075558C>T	uc004bkc.2	-	1	532	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	DBC1_uc004bkd.2_Missense_Mutation_p.E26K	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	26					cell cycle arrest|cell death	cytoplasm	protein binding	p.E26K(2)		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						CCAGCTGGTTCCTGGTGGGAG	0.517000														17			15		0	0	0.000566183	0	0
TTC17	55761	broad.mit.edu	37	11	43421508	43421508	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:43421508G>A	uc001mxi.3	+	8	1199	c.1129G>A	c.(1129-1131)Gaa>Aaa	p.E377K	TTC17_uc001mxh.3_Missense_Mutation_p.E377K|TTC17_uc010rfj.2_Missense_Mutation_p.E320K|TTC17_uc001mxj.3_Missense_Mutation_p.E147K	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	377							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GAGACAGCAGGAAATCCTAGA	0.368000														64			15		0	0	0.000422831	0	0
USP2	9099	broad.mit.edu	37	11	119243660	119243660	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:119243660C>T	uc001pwm.4	-	1	826	c.531G>A	c.(529-531)aaG>aaA	p.K177K	USP2_uc001pwn.4_Intron	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	177	Necessary for interaction with MDM4.				cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TGCAGAGCTCCTTGCGCGTCC	0.637000														33			12		0	0	0.00244969	0	0
MRPS24	64951	broad.mit.edu	37	7	43906466	43906466	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:43906466G>A	uc003tit.1	-	3	387	c.336C>T	c.(334-336)cgC>cgT	p.R112R	URGCP_uc022acg.1_3'UTR	NM_032014	NP_114403	Q96EL2	RT24_HUMAN	Homo sapiens mitochondrial ribosomal protein S24 (MRPS24), nuclear gene encoding mitochondrial protein, mRNA.	112					translation	mitochondrial large ribosomal subunit|mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	5						GGTTACCCCGGCGCTTTAAAA	0.552000														44			9		0	0	0.000274275	0	0
PRKDC	5591	broad.mit.edu	37	8	48794039	48794039	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:48794039G>A	uc003xqi.3	-	38	5059	c.5002C>T	c.(5002-5004)Cct>Tct	p.P1668S	PRKDC_uc003xqj.3_Missense_Mutation_p.P1668S	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	1669					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AAGACTTCAGGGAATGAACCA	0.294000								Non-homologous end-joining						47			25		0	0	0.001512	0	0
ACSM2A	123876	broad.mit.edu	37	16	20486756	20486756	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:20486756C>T	uc010bwe.3	+	7	1206	c.967C>T	c.(967-969)Ctt>Ttt	p.L323F	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.L244F|ACSM2A_uc002dhf.4_Missense_Mutation_p.L323F|ACSM2A_uc002dhg.4_Missense_Mutation_p.L323F|ACSM2A_uc010vay.2_Missense_Mutation_p.L244F|ACSM2A_uc002dhh.4_5'Flank	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	323					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						ACAGCAGGATCTTTCCAGGTG	0.498000														34			9		0	0	0.000673444	0	0
RBL1	5933	broad.mit.edu	37	20	35696431	35696431	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:35696431G>A	uc002xgi.3	-	2	528	c.449C>T	c.(448-450)cCa>cTa	p.P150L	RBL1_uc002xgj.1_Missense_Mutation_p.P150L|RBL1_uc010gfv.1_Non-coding_Transcript	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	150					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TTCTTCATATGGATTTTGAAA	0.323000														161			7		0	0	0.000274275	0	0
ANKRD46	157567	broad.mit.edu	37	8	101540113	101540114	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:101540113_101540114GG>TT	uc003yjo.1	-	4	738_739	c.429_430CC>AA	c.(427-432)acccac>acAAac	p.H144N	ANKRD46_uc003yjm.3_Missense_Mutation_p.H144N|ANKRD46_uc003yjn.1_Missense_Mutation_p.H144N|ANKRD46_uc003yjp.1_Missense_Mutation_p.H144N	NM_198401	NP_940683	Q86W74	ANR46_HUMAN	Homo sapiens ankyrin repeat domain 46 (ANKRD46), mRNA.	144						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			AGTTTCGAGTGGGTTCCTCTGT	0.436000														165			9		0	0	6.4e-05	0	0
DDX53	168400	broad.mit.edu	37	X	23019767	23019767	+	Silent	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:23019767T>G	uc004daj.3	+	0	1690	c.1593T>G	c.(1591-1593)ctT>ctG	p.L531L		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	531	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						CCCGAGGTCTTGATCTTAATG	0.388000														51			19		0	0	0.00121646	0	0
CSMD2	114784	broad.mit.edu	37	1	34276422	34276422	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:34276422G>A	uc001bxm.1	-	9	1545	c.1368C>T	c.(1366-1368)atC>atT	p.I456I	CSMD2_uc001bxn.1_Silent_p.I416I	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	416	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGGGGGAGGTGATGATGCCCG	0.542000														50			13		0	0	0.000308642	0	0
RHBDL2	54933	broad.mit.edu	37	1	39381318	39381318	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:39381318C>T	uc010oio.1	-	2	555	c.551G>A	c.(550-552)gGc>gAc	p.G184D	RHBDL2_uc010oin.1_Missense_Mutation_p.G104D|RHBDL2_uc001ccu.1_Missense_Mutation_p.G104D|RHBDL2_uc001ccv.3_Missense_Mutation_p.G104D	NM_017821	NP_060291	Q9NX52	RHBL2_HUMAN	Homo sapiens rhomboid, veinlet-like 2 (Drosophila) (RHBDL2), mRNA.	104					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	8	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			CTCCAAGATGCCTGTGTCCAA	0.473000														43			15		0	0	0.000308642	0	0
ITGA1	3672	broad.mit.edu	37	5	52221138	52221138	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:52221138G>A	uc003jou.3	+	18	2848	c.2434G>A	c.(2434-2436)Gaa>Aaa	p.E812K	ITGA1_uc003jov.3_Non-coding_Transcript|ITGA1_uc003jow.3_Missense_Mutation_p.E343K	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	812					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TGGAAATAAGGAAAAATGTAT	0.398000														56			10		0	0	0.00185496	0	0
CSMD3	114788	broad.mit.edu	37	8	113276005	113276005	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:113276005C>T	uc003ynu.3	-	60	9884	c.9725G>A	c.(9724-9726)gGa>gAa	p.G3242E	CSMD3_uc003yns.3_Missense_Mutation_p.G2444E|CSMD3_uc003ynt.3_Missense_Mutation_p.G3202E|CSMD3_uc011lhx.2_Missense_Mutation_p.G3073E	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3242	Sushi 25.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCCAGCCTTCCATTAGAGAT	0.433000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				30			5		0	0	0.000602214	0	0
TPRKB	51002	broad.mit.edu	37	2	73957738	73957738	+	Silent	SNP	C	T	T	rs144417465	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:73957738C>T	uc002sjn.2	-	3	501	c.390G>A	c.(388-390)caG>caA	p.Q130Q	TPRKB_uc002sjm.2_Silent_p.Q169Q|TPRKB_uc002sjl.2_Silent_p.Q97Q|TPRKB_uc002sjo.2_Silent_p.Q130Q|TPRKB_uc010yrm.1_Silent_p.Q97Q	NM_016058	NP_057142	Q9Y3C4	TPRKB_HUMAN	Homo sapiens TP53RK binding protein (TPRKB), mRNA.	130					protein catabolic process	cytosol|nucleus	protein kinase binding			lung(2)|ovary(1)|skin(1)	4						TCAGAGAAACCTGATGACCTT	0.313000														49			33		0	0	0.00283554	0	0
YLPM1	56252	broad.mit.edu	37	14	75276307	75276307	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:75276307C>T	uc001xqj.4	+	6	4870	c.4746C>T	c.(4744-4746)ctC>ctT	p.L1582L	YLPM1_uc001xql.4_Non-coding_Transcript|YLPM1_uc001xqm.1_Silent_p.L65L	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	1387					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCTATGGGCTCTGGGATACAA	0.463000														8			9		0	0	0.000673444	0	0
FAM179A	165186	broad.mit.edu	37	2	29255882	29255882	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:29255882G>A	uc010ezl.3	+	14	2446	c.2095G>A	c.(2095-2097)Gac>Aac	p.D699N	FAM179A_uc010ymm.2_Missense_Mutation_p.D644N|FAM179A_uc002rmr.4_Missense_Mutation_p.D226N|FAM179A_uc002rms.1_5'Flank	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	699							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCATCTTACGACTTGCAGAA	0.512000														20			15		0	0	0.000958276	0	0
KLHL3	26249	broad.mit.edu	37	5	136964127	136964127	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:136964127C>T	uc010jek.3	-	13	1895	c.1451_splice	c.e13-1	p.G484_splice	KLHL3_uc011cyc.2_Splice_Site_p.G219_splice|KLHL3_uc003lbr.4_Splice_Site_p.G402_splice|KLHL3_uc011cyd.2_Splice_Site	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA.	484						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		ACTCCAACCCCTGAAAGGCAG	0.562000														45			10		0	0	0.00185496	0	0
DSG3	1830	broad.mit.edu	37	18	29049253	29049253	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:29049253C>T	uc002kws.3	+	11	1947	c.1838C>T	c.(1837-1839)tCa>tTa	p.S613L		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	613					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGGCCGCACTCAGGGAGGCTG	0.592000														53			13		0	0	0.00136819	0	0
HEATR5B	54497	broad.mit.edu	37	2	37276944	37276944	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:37276944G>A	uc002rpp.1	-	17	2644	c.2548C>T	c.(2548-2550)Cgt>Tgt	p.R850C		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	850							binding	p.V849A(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCAGATTTACGAACTTCCTCA	0.398000														19			8		0	0	0.000274275	0	0
FAS	355	broad.mit.edu	37	10	90774052	90774052	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:90774052C>T	uc001kfr.3	+	8	1199	c.853C>T	c.(853-855)Cat>Tat	p.H285Y	FAS_uc010qna.2_Non-coding_Transcript|FAS_uc001kft.3_Missense_Mutation_p.H264Y|FAS_uc010qnb.2_Non-coding_Transcript|FAS_uc001kfs.3_3'UTR|FAS_uc010qnc.2_Non-coding_Transcript|FAS_uc010qnd.2_Non-coding_Transcript|FAS_uc010qne.2_Non-coding_Transcript|FAS_uc001kfw.3_3'UTR|FAS_uc009xtp.3_Non-coding_Transcript	NM_000043	NP_000034	P25445	TNR6_HUMAN	Homo sapiens Fas (TNF receptor superfamily, member 6) (FAS), transcript variant 1, mRNA.	285	Death.|Interaction with HIPK3 (By similarity).				activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		GCATCAACTTCATGGAAAGAA	0.373000														74			24		0	0	0.00229938	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751425	140751425	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140751425C>T	uc003ljw.2	+	0	1464	c.1464C>T	c.(1462-1464)tcC>tcT	p.S488S	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_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.S488S|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	490	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTGTCTCCTACTACATCG	0.632000														28			29		0	0	0.00209593	0	0
IGSF10	285313	broad.mit.edu	37	3	151161411	151161411	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:151161411G>A	uc011bod.2	-	4	5324	c.5324C>T	c.(5323-5325)cCt>cTt	p.P1775L	IGSF10_uc011bob.2_5'Flank|IGSF10_uc011boc.2_5'Flank	NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	1775	Ig-like C2-type 4.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GGTAACTGTAGGGCTTGGCCT	0.517000														38			7		0	0	0.000274275	0	0
INTS8	55656	broad.mit.edu	37	8	95839949	95839950	+	Splice_Site	DNP	GG	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:95839949_95839950GG>TT	uc003yhb.3	+	4	573	c.447_splice	c.e4-1	p.W149_splice	INTS8_uc003yha.1_Splice_Site_p.W149_splice|INTS8_uc011lgq.2_Splice_Site|INTS8_uc011lgr.2_Splice_Site|INTS8_uc010mba.3_5'Flank	NM_017864	NP_060334	Q75QN2	INT8_HUMAN	Homo sapiens integrator complex subunit 8 (INTS8), mRNA.	149					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					CTTTTCTTCAGGGCAATTAGGA	0.347000														763			19		0	0	6.4e-05	0	0
URGCP	55665	broad.mit.edu	37	7	43918118	43918118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:43918118G>A	uc003tiw.3	-	5	1001	c.944C>T	c.(943-945)tCc>tTc	p.S315F	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.S272F|URGCP_uc003tiv.3_Missense_Mutation_p.S240F|URGCP_uc003tix.3_Missense_Mutation_p.S306F|URGCP_uc003tiy.3_Missense_Mutation_p.S272F|URGCP_uc003tiz.3_Missense_Mutation_p.S272F|URGCP_uc011kbj.2_Missense_Mutation_p.S272F	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	315					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAAAAACCAGGAAATTTCTAC	0.562000														50			6		0	0	0.00116845	0	0
ZMIZ2	83637	broad.mit.edu	37	7	44805143	44805143	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:44805143C>T	uc003tlr.3	+	15	2330	c.2207C>T	c.(2206-2208)cCc>cTc	p.P736L	ZMIZ2_uc003tlq.3_Missense_Mutation_p.P678L|ZMIZ2_uc003tls.3_Missense_Mutation_p.P710L|ZMIZ2_uc003tlt.3_Missense_Mutation_p.P359L|ZMIZ2_uc010kyj.3_Missense_Mutation_p.P258L|ZMIZ2_uc003tlu.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	736	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	p.P735T(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTGCAGCCCCCCTCAGTCCCT	0.682000														3			10		0	0	0.000978159	0	0
KDM2B	84678	broad.mit.edu	37	12	121970721	121970721	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:121970721G>A	uc001uat.3	-	7	1025	c.921C>T	c.(919-921)ttC>ttT	p.F307F	KDM2B_uc001uas.3_Silent_p.F276F|KDM2B_uc021rfd.1_Silent_p.F276F|KDM2B_uc001uau.3_Silent_p.F190F|KDM2B_uc021rfe.1_Silent_p.F307F|KDM2B_uc001uav.4_Intron	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	307	JmjC.				embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CGGAAGGGATGAAAAATGTGT	0.577000														45			8		0	0	0.000274275	0	0
STS	412	broad.mit.edu	37	X	7171259	7171259	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:7171259C>T	uc004cry.4	+	1	279	c.34C>T	c.(34-36)Cta>Tta	p.L12L	STS_uc004crw.2_Non-coding_Transcript|STS_uc011mhp.1_Non-coding_Transcript|STS_uc004crx.1_Non-coding_Transcript	NM_000351	NP_000342	P08842	STS_HUMAN	Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	12					female pregnancy|steroid catabolic process	Golgi apparatus|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CCCTTTCCTCCTACTGTTCTT	0.522000									Ichthyosis					6			8		0	0	0.000274275	0	0
TPH2	121278	broad.mit.edu	37	12	72338093	72338093	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:72338093T>C	uc009zrw.1	+	2	416	c.275T>C	c.(274-276)gTt>gCt	p.V92A	TPH2_uc001swy.2_Missense_Mutation_p.V2A	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	92	ACT.				aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GTCAACATGGTTCATATTGAA	0.408000														21			10		0	0	0.000978159	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040388	103040388	+	Nonsense_Mutation	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:103040388C>G	uc002tbx.3	+	3	672	c.188C>G	c.(187-189)tCa>tGa	p.S63*	IL18RAP_uc010fiz.3_Intron	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	63					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AATCGACTCTCACCAAAACAA	0.438000														14			10		0	0	0.000442599	0	0
HHLA2	11148	broad.mit.edu	37	3	108072364	108072364	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:108072364C>T	uc003dwz.3	+	3	569	c.155C>T	c.(154-156)tCa>tTa	p.S52L	HHLA2_uc011bhl.2_Intron|HHLA2_uc010hpu.3_Missense_Mutation_p.S52L|HHLA2_uc003dwy.4_Missense_Mutation_p.S52L	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	52						integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						CTCCCTTCTTCATTTGAGAGG	0.383000														7			4		0	0	0.00024832	0	0
OR2AG1	144125	broad.mit.edu	37	11	6806802	6806802	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:6806802C>T	uc001mer.2	+	0	555	c.534C>T	c.(532-534)ctC>ctT	p.L178L		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 1 (OR2AG1), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GGCATCTTCTCTGTGAGATCC	0.517000														21			10		0	0	0.000978159	0	0
CMPK2	129607	broad.mit.edu	37	2	7001333	7001333	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:7001333G>A	uc002qyo.3	-	2	1083	c.974C>T	c.(973-975)tCt>tTt	p.S325F	CMPK2_uc010yis.1_Missense_Mutation_p.S325F|CMPK2_uc010ewv.3_Missense_Mutation_p.S325F	NM_207315	NP_997198	Q5EBM0	CMPK2_HUMAN	Homo sapiens cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial (CMPK2), nuclear gene encoding mitochondrial protein, mRNA.	325					dTDP biosynthetic process	mitochondrion	ATP binding|UMP kinase activity|cytidylate kinase activity|thymidylate kinase activity			large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AATCACAGGAGATTTGGCAGA	0.393000														50			18		0	0	0.00188189	0	0
TRHDE	29953	broad.mit.edu	37	12	73056896	73056896	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:73056896C>T	uc001sxa.3	+	18	3026	c.2996C>T	c.(2995-2997)aCt>aTt	p.T999I		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	999					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.T999S(2)|p.E998Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GCTGTGGAAACTGTCGAAGCC	0.388000														20			10		0	0	0.000442599	0	0
CD226	10666	broad.mit.edu	37	18	67563141	67563141	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:67563141G>A	uc010dqo.3	-	2	970	c.523C>T	c.(523-525)Ctc>Ttc	p.L175F	CD226_uc002lkm.4_Missense_Mutation_p.L175F|CD226_uc021uli.1_Missense_Mutation_p.L20F	NM_006566	NP_006557	Q15762	CD226_HUMAN	Homo sapiens CD226 molecule (CD226), mRNA.	175	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				TAAGTTAAGAGGTCGATCTGA	0.517000														46			11		0	0	0.00185496	0	0
HCRTR2	3062	broad.mit.edu	37	6	55113544	55113544	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:55113544A>T	uc003pcl.3	+	1	646	c.331A>T	c.(331-333)Aca>Tca	p.T111S	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.T46S	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	111					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			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)			CCTTCCAGCCACACTGGTCGT	0.453000														99			15		0	0	0.000422831	0	0
GRAMD2	196996	broad.mit.edu	37	15	72455749	72455749	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:72455749G>A	uc002atq.3	-	9	838	c.814C>T	c.(814-816)Cct>Tct	p.P272S	GRAMD2_uc010bis.2_Missense_Mutation_p.P272S|GRAMD2_uc010ukh.2_Missense_Mutation_p.P66S	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA.	272						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						GGGCAGGCAGGACCCCAGCCT	0.532000														93			32		0	0	0.000953801	0	0
UGT2B28	54490	broad.mit.edu	37	4	70146547	70146547	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:70146547C>T	uc003hej.3	+	0	331	c.329C>T	c.(328-330)tCa>tTa	p.S110L	UGT2B28_uc010ihr.3_Missense_Mutation_p.S110L	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	110					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TTATATTTTTCACAAGAACAA	0.294000														34			20		0	0	0.00229938	0	0
OR51A7	119687	broad.mit.edu	37	11	4928635	4928635	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:4928635C>T	uc010qyq.2	+	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		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)		TCAAGCTTTTCCTTCTGATTG	0.458000														21			6		0	0	0.00116845	0	0
ZNF318	24149	broad.mit.edu	37	6	43308574	43308574	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:43308574G>A	uc003oux.3	-	8	3527	c.3449C>T	c.(3448-3450)tCt>tTt	p.S1150F	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1150					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTGCTCCCCAGAAATTGGATC	0.413000														51			41		0	0	0.000680045	0	0
OR51A7	119687	broad.mit.edu	37	11	4928877	4928877	+	Missense_Mutation	SNP	C	T	T	rs145773250		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:4928877C>T	uc010qyq.2	+	0	278	c.278C>T	c.(277-279)tCa>tTa	p.S93L		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S93L(2)		breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		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)		ATGGGAATTTCACCTAATGCC	0.443000														57			5		0	0	0.00116845	0	0
OR2T12	127064	broad.mit.edu	37	1	248458248	248458248	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:248458248G>A	uc010pzj.2	-	0	633	c.633C>T	c.(631-633)ctC>ctT	p.L211L		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	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;0.0201)			AGGACAGGATGAGGGAAAAGG	0.547000														42			13		0	0	0.00244969	0	0
SPAG17	200162	broad.mit.edu	37	1	118548057	118548057	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:118548057G>A	uc001ehk.2	-	31	4824	c.4756C>T	c.(4756-4758)Cct>Tct	p.P1586S	SPAG17_uc021osr.1_Missense_Mutation_p.P96S	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1586						cilium|flagellar axoneme|microtubule		p.P1586S(2)|p.P1586H(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTCCCTCAGGATCCAGAACC	0.438000														55			21		0	0	0.001512	0	0
CD96	10225	broad.mit.edu	37	3	111264196	111264196	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:111264196T>A	uc003dxw.3	+	1	535	c.365T>A	c.(364-366)cTg>cAg	p.L122Q	CD96_uc003dxv.3_Missense_Mutation_p.L122Q|CD96_uc003dxx.3_Missense_Mutation_p.L122Q|CD96_uc010hpy.1_Missense_Mutation_p.L122Q	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	122	Ig-like V-type 1.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						ATGCTTGTTCTGTATCCAGAG	0.433000									Opitz Trigonocephaly syndrome					20			5		0	0	0.00116845	0	0
ATP13A5	344905	broad.mit.edu	37	3	193007815	193007815	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:193007815G>A	uc011bsq.2	-	25	2882	c.2882C>T	c.(2881-2883)cCa>cTa	p.P961L		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	961					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TGGTCTATATGGAGCCAGCTT	0.383000														15			4		0	0	0.000602214	0	0
KCNH8	131096	broad.mit.edu	37	3	19575156	19575156	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:19575156C>T	uc003cbk.1	+	15	3084	c.2889C>T	c.(2887-2889)ccC>ccT	p.P963P	KCNH8_uc010hex.1_Silent_p.P424P	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	963	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GTGTGGATCCCTCCTCTGTGG	0.502000														32			8		0	0	0.000442599	0	0
MYO5B	4645	broad.mit.edu	37	18	47488716	47488716	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:47488716C>T	uc002leb.2	-	11	1753	c.1465G>A	c.(1465-1467)Gat>Aat	p.D489N	MYO5B_uc021ukb.1_Missense_Mutation_p.D488N	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	489	Myosin head-like.				protein transport	myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TCATAAAAATCAATCAGGGTC	0.418000														50			10		0	0	0.000673444	0	0
COL14A1	7373	broad.mit.edu	37	8	121295969	121295969	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:121295969G>A	uc003yox.3	+	31	4184	c.3919G>A	c.(3919-3921)Gag>Aag	p.E1307K	COL14A1_uc003yoz.3_Missense_Mutation_p.E272K	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1307	Nonhelical region (NC4).|TSP N-terminal.				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)			TGCTCTTTGGGAGATTTTAAA	0.383000														56			47		0	0	0.000781405	0	0
FAT3	120114	broad.mit.edu	37	11	92543147	92543147	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:92543147C>T	uc001pdj.4	+	11	9403	c.9386C>T	c.(9385-9387)cCt>cTt	p.P3129L		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3129	Cadherin 28.				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)				GATAACCCCCCTGTGTTTTCT	0.542000										TCGA Ovarian(4;0.039)				136			23		0	0	0.000720815	0	0
MPZ	4359	broad.mit.edu	37	1	161276688	161276688	+	Silent	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:161276688T>C	uc001gaf.4	-	2	325	c.258A>G	c.(256-258)caA>caG	p.Q86Q		NM_000530	NP_000521	P25189	MYP0_HUMAN	Homo sapiens myelin protein zero (MPZ), mRNA.	86	Ig-like V-type.				synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			CAATGTAGGGTTGTCCCTTGG	0.498000														38			8		0	0	0.000274275	0	0
TTN	7273	broad.mit.edu	37	2	179569925	179569925	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:179569925G>C	uc021vsy.1	-	99	26073	c.25848C>G	c.(25846-25848)agC>agG	p.S8616R	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.S5277R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9543	Ig-like 69.						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)			CTTCTTCTTGGCTTTGCTTGA	0.363000														81			39		0	0	0.000781405	0	0
ARAF	369	broad.mit.edu	37	X	47426506	47426506	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:47426506C>T	uc011mlp.2	+	8	1043	c.849C>T	c.(847-849)tcC>tcT	p.S283S	ARAF_uc011mln.2_Non-coding_Transcript|ARAF_uc011mlo.2_Silent_p.S149S|ARAF_uc004dic.1_Silent_p.S64S	NM_001654	NP_001645	P10398	ARAF_HUMAN	Homo sapiens v-raf murine sarcoma 3611 viral oncogene homolog (ARAF), transcript variant 1, mRNA.	283					intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	AGCGGAAGTCCTTGGCCGATG	0.627000														7			6		0	0	0.000157383	0	0
SIK3	23387	broad.mit.edu	37	11	116729253	116729253	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:116729253G>A	uc001ppy.3	-	19	2646	c.2610C>T	c.(2608-2610)ttC>ttT	p.F870F	SIK3_uc001ppz.3_Intron|SIK3_uc001pqa.3_Intron|SIK3_uc001ppw.3_Intron|SIK3_uc001ppx.3_Intron|SIK3_uc001pqb.3_Silent_p.F173F	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	870	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						GGAAGGTGGGGAATTGGTCAA	0.602000														183			44		0	0	0.000781405	0	0
LRP1B	53353	broad.mit.edu	37	2	141641546	141641546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:141641546G>A	uc002tvj.1	-	24	4981	c.4009C>T	c.(4009-4011)Cca>Tca	p.P1337S	LRP1B_uc010fnl.1_Missense_Mutation_p.P519S	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1337					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.P1337S(2)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGGCCTTCTGGAGTAGCCAGG	0.473000										TSP Lung(27;0.18)				46			13		0	0	0.000308642	0	0
TRIM36	55521	broad.mit.edu	37	5	114466386	114466386	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:114466386G>A	uc003kqs.3	-	8	2244	c.1735C>T	c.(1735-1737)Cgt>Tgt	p.R579C	TRIM36_uc011cwc.2_Missense_Mutation_p.R567C|TRIM36_uc003kqt.3_Missense_Mutation_p.R424C	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	579	B30.2/SPRY.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GGTTCCACACGGAAGGCCCAG	0.458000														53			14		0	0	0.000308642	0	0
SPAG17	200162	broad.mit.edu	37	1	118581996	118581996	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:118581996C>T	uc001ehk.2	-	22	3306	c.3238G>A	c.(3238-3240)Gaa>Aaa	p.E1080K		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1080						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTCACAATTTCCTTAGGGTCA	0.383000														24			4		0	0	0.00024832	0	0
MTUS1	57509	broad.mit.edu	37	8	17511000	17511000	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:17511000C>T	uc003wxv.3	-	10	3696	c.3222G>A	c.(3220-3222)aaG>aaA	p.K1074K	MTUS1_uc003wxt.3_Silent_p.K321K|MTUS1_uc011kyg.2_Silent_p.K219K|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Silent_p.K1020K|MTUS1_uc003wxs.3_Silent_p.K240K	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	1074						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CATGGCCTTTCTTAATTTCTG	0.368000														43			9		0	0	0.000673444	0	0
F5	2153	broad.mit.edu	37	1	169512207	169512207	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:169512207C>T	uc001ggg.1	-	12	2266	c.2121G>A	c.(2119-2121)cgG>cgA	p.R707R		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	707	B.	Cleavage; by activated protein C.			cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	p.R707L(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CATGCATTTTCCGTGTAGCCA	0.418000														127			29		0	0	0.00058488	0	0
ZNF318	24149	broad.mit.edu	37	6	43309940	43309940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:43309940G>A	uc003oux.3	-	7	3364	c.3286C>T	c.(3286-3288)Ccc>Tcc	p.P1096S	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1096					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTGTTGTAGGGATCCAGTGTC	0.458000														75			13		0	0	0.000422831	0	0
RP1	6101	broad.mit.edu	37	8	55538799	55538799	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:55538799G>A	uc003xsd.1	+	3	2505	c.2357G>A	c.(2356-2358)aGc>aAc	p.S786N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	786					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AATAAAATAAGCTTAGGAGCA	0.274000														123			70		0	0	0.000781405	0	0
C8A	731	broad.mit.edu	37	1	57378226	57378226	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:57378226G>A	uc001cyo.2	+	9	1663	c.1531G>A	c.(1531-1533)Gag>Aag	p.E511K		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	511	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GCCCATCCTCGAGGGCACCAG	0.612000														41			8		0	0	0.000274275	0	0
PSMA8	143471	broad.mit.edu	37	18	23713987	23713987	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:23713987C>T	uc002kvq.3	+	0	172	c.58C>T	c.(58-60)Caa>Taa	p.Q20*	PSMA8_uc002kvo.3_Nonsense_Mutation_p.Q20*|PSMA8_uc002kvp.3_Nonsense_Mutation_p.Q20*|PSMA8_uc002kvr.3_5'UTR	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 8 (PSMA8), transcript variant 1, mRNA.	20					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|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			ACACCTTTTTCAAGTTGAATA	0.557000														40			28		0	0	0.000814825	0	0
VCAN	1462	broad.mit.edu	37	5	82834415	82834415	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:82834415G>A	uc003kii.3	+	7	5949	c.5593G>A	c.(5593-5595)Gaa>Aaa	p.E1865K	VCAN_uc003kij.3_Missense_Mutation_p.E878K|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.E529K	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	1865	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGCCGAAAAGGAAGTAGCTGG	0.458000														73			20		0	0	0.00278032	0	0
RELN	5649	broad.mit.edu	37	7	103236980	103236980	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:103236980G>A	uc022ajr.1	-	24	3622	c.3462C>T	c.(3460-3462)ctC>ctT	p.L1154L	RELN_uc022ajq.1_Silent_p.L1154L|RELN_uc010liz.3_Silent_p.L1154L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1154					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGTACTGAAGGAGGACGCCCT	0.522000														110			15		0	0	0.00121646	0	0
IGF1	3479	broad.mit.edu	37	12	102811671	102811671	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:102811671G>A	uc001tjp.4	-	3	732	c.513C>T	c.(511-513)atC>atT	p.I171I	IGF1_uc001tjn.2_Intron|IGF1_uc001tjm.2_Intron|IGF1_uc001tjo.2_Intron	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA.	171					DNA replication|Ras protein signal transduction|anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of activated T cell proliferation|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding	p.I171M(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						TCTTTCCTCTGATCTGCAGAC	0.463000														187			52		0	0	0.000781405	0	0
PLXNC1	10154	broad.mit.edu	37	12	94575305	94575305	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:94575305C>T	uc001tdc.3	+	2	1536	c.1287C>T	c.(1285-1287)ctC>ctT	p.L429L		NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	429	Sema.				axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCTACAAACTCGTTCCTGATC	0.313000														131			31		0	0	0.000692331	0	0
LPAR6	10161	broad.mit.edu	37	13	48985882	48985882	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr13:48985882C>T	uc010acu.3	-	0	1772	c.678G>A	c.(676-678)aaG>aaA	p.K226K	RB1_uc001vcb.3_Intron|LPAR6_uc001vcc.1_Intron|LPAR6_uc001vce.3_Silent_p.K226K|LPAR6_uc001vcf.3_Silent_p.K226K	NM_001162498	NP_005758	P43657	LPAR6_HUMAN	Homo sapiens lysophosphatidic acid receptor 6 (LPAR6), transcript variant 3, mRNA.	226						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						TTTTTAAAACCTTAGTTTTGT	0.249000														20			5		0	0	0.000602214	0	0
PCDH15	65217	broad.mit.edu	37	10	55944945	55944945	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:55944945G>A	uc010qhy.1	-	12	1799	c.1404C>T	c.(1402-1404)ctC>ctT	p.L468L	PCDH15_uc010qhq.2_Silent_p.L468L|PCDH15_uc010qhr.2_Silent_p.L463L|PCDH15_uc021pqv.1_Silent_p.L463L|PCDH15_uc021pqw.1_Silent_p.L475L|PCDH15_uc010qht.2_Silent_p.L470L|PCDH15_uc021pqx.1_Silent_p.L463L|PCDH15_uc001jjv.1_Silent_p.L441L|PCDH15_uc021pqy.1_Silent_p.L463L|PCDH15_uc021pqz.1_Silent_p.L441L|PCDH15_uc010qhv.1_Silent_p.L463L|PCDH15_uc010qhw.1_Silent_p.L426L|PCDH15_uc010qhx.1_Silent_p.L463L|PCDH15_uc010qhz.1_Silent_p.L463L|PCDH15_uc010qia.1_Silent_p.L441L|PCDH15_uc001jju.1_Silent_p.L463L|PCDH15_uc010qib.1_Silent_p.L441L|PCDH15_uc001jjw.3_Silent_p.L463L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	463	Cadherin 4.				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.Q467*(1)		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)				GAAGTAAGGTGAGGTAGCGAG	0.388000										HNSCC(58;0.16)				35			8		0	0	0.000442599	0	0
MUC4	4585	broad.mit.edu	37	3	195518081	195518081	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:195518081G>A	uc021xjp.1	-	1	526	c.370C>T	c.(370-372)Ccc>Tcc	p.P124S	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.P6S	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	129					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACACTGGAGGGAAATGATGTG	0.453000														52			6		0	0	0.000274275	0	0
GLI2	2736	broad.mit.edu	37	2	121712857	121712857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:121712857G>A	uc010flp.3	+	3	524	c.494G>A	c.(493-495)gGc>gAc	p.G165D	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Intron|GLI2_uc010flo.1_Missense_Mutation_p.G40D|GLI2_uc002tmw.1_Missense_Mutation_p.G165D	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	165					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GGACTGTTTGGCCTTCCTGCT	0.637000														12			10		0	0	0.000978159	0	0
SLC26A8	116369	broad.mit.edu	37	6	35911850	35911850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:35911850G>A	uc003olm.3	-	19	2851	c.2740C>T	c.(2740-2742)Ccc>Tcc	p.P914S	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.P496S|SLC26A8_uc003oll.3_Missense_Mutation_p.P809S|SLC26A8_uc003oln.3_Missense_Mutation_p.P914S	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	914	Interaction with RACGAP1.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTAGATTTGGGGTTGGGCTCC	0.572000														83			12		0	0	0.00136819	0	0
CD244	51744	broad.mit.edu	37	1	160801180	160801180	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:160801180C>T	uc009wtq.3	-	8	1295	c.1070G>A	c.(1069-1071)cGa>cAa	p.R357Q	CD244_uc001fxa.3_Missense_Mutation_p.R352Q|CD244_uc009wtr.3_Missense_Mutation_p.R260Q|CD244_uc009wtp.3_Non-coding_Transcript	NM_001166663	NP_001160135	Q9BZW8	CD244_HUMAN	Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA.	357					blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCGGCTCAATCGAGCAGGGTT	0.463000														83			47		0	0	0.000781405	0	0
PFKFB2	5208	broad.mit.edu	37	1	207235357	207235357	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:207235357C>T	uc001hfg.3	+	2	254	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	PFKFB2_uc010psc.2_5'UTR|PFKFB2_uc001hfh.3_Missense_Mutation_p.R49W|PFKFB2_uc009xcc.3_Missense_Mutation_p.R7W|PFKFB2_uc010psd.2_5'Flank	NM_006212	NP_006203	O60825	F262_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 (PFKFB2), transcript variant 1, mRNA.	49	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					TTTGCCAGCCCGGGGTAAAAC	0.458000														47			11		0	0	0.00136819	0	0
SLC4A5	57835	broad.mit.edu	37	2	74462304	74462304	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:74462304G>A	uc002sko.1	-	16	2359	c.2357C>T	c.(2356-2358)tCc>tTc	p.S786F	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.S786F|SLC4A5_uc010ffc.1_Missense_Mutation_p.S786F|SLC4A5_uc002skp.1_Intron|SLC4A5_uc002sks.1_Intron	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	786						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CATCAGGATGGAGAAAACAAT	0.537000														12			8		0	0	0.000274275	0	0
LAIR2	3904	broad.mit.edu	37	19	55019221	55019221	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:55019221G>A	uc002qgc.3	+	2	308	c.186G>A	c.(184-186)agG>agA	p.R62R	LAIR2_uc002qga.1_Non-coding_Transcript|LAIR2_uc002qgb.1_Non-coding_Transcript|LAIR2_uc002qgd.3_Silent_p.R62R|LAIR2_uc010erl.3_Silent_p.R62R	NM_002288	NP_002279	Q6ISS4	LAIR2_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 2 (LAIR2), transcript variant 1, mRNA.	62	Ig-like C2-type.					extracellular region	receptor activity	p.E61*(1)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		GCCTGGAGAGGGAGGATAGAG	0.527000														44			9		0	0	0.000442599	0	0
ZNF518A	9849	broad.mit.edu	37	10	97919819	97919819	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:97919819G>A	uc001klp.3	+	5	4597	c.3740G>A	c.(3739-3741)aGa>aAa	p.R1247K	ZNF518A_uc001klo.1_Missense_Mutation_p.R717K|ZNF518A_uc001klq.3_Missense_Mutation_p.R1247K|ZNF518A_uc001klr.3_Missense_Mutation_p.R1247K	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	1247					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AACTTCAATAGAAAAAAGACT	0.343000														40			9		0	0	0.000978159	0	0
NOSIP	51070	broad.mit.edu	37	19	50060140	50060140	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:50060140C>T	uc002pok.3	-	6	681	c.529G>A	c.(529-531)Gag>Aag	p.E177K	NOSIP_uc002pol.3_Missense_Mutation_p.E177K|NOSIP_uc010yay.1_Non-coding_Transcript	NM_015953	NP_057037	Q9Y314	NOSIP_HUMAN	Homo sapiens nitric oxide synthase interacting protein (NOSIP), mRNA.	177					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		ACCGGCTTCTCCAGCTTGGTG	0.682000														17			6		0	0	0.000157383	0	0
HEG1	57493	broad.mit.edu	37	3	124728598	124728598	+	Silent	SNP	G	A	A	rs55953700		TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:124728598G>A	uc011bke.2	-	8	3512	c.3444C>T	c.(3442-3444)atC>atT	p.I1148I	HEG1_uc003ehs.4_Silent_p.I1048I	NM_020733	NP_065784	Q9ULI3	HEG1_HUMAN	Homo sapiens HEG homolog 1 (zebrafish) (HEG1), mRNA.	1048						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GGCATTTGCAGATAAAGGATC	0.428000														26			8		0	0	0.000673444	0	0
COL10A1	1300	broad.mit.edu	37	6	116446585	116446585	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:116446585C>T	uc003pwm.3	-	1	167	c.71G>A	c.(70-72)cGa>cAa	p.R24Q	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	24	Nonhelical region (NC2).				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		CATTTGGTATCGTTCAGCGTA	0.398000														55			26		0	0	0.000878237	0	0
MUC16	94025	broad.mit.edu	37	19	9049903	9049903	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9049903C>T	uc002mkp.3	-	4	31932	c.31728G>A	c.(31726-31728)ggG>ggA	p.G10576G		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10578	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						TTCTCTCTGCCCCAGAACGAG	0.502000														34			6		0	0	0.00116845	0	0
POLR3B	55703	broad.mit.edu	37	12	106890587	106890587	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:106890587C>T	uc001tlp.3	+	24	3097	c.2875C>T	c.(2875-2877)Cac>Tac	p.H959Y	LOC100287944_uc021rdg.1_Intron|POLR3B_uc001tlq.3_Missense_Mutation_p.H901Y	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	959					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CGGCAGATTCCACTACGGCAC	0.537000														33			7		0	0	0.000274275	0	0
APOB	338	broad.mit.edu	37	2	21233705	21233705	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:21233705C>T	uc002red.3	-	25	6163	c.6035G>A	c.(6034-6036)cGa>cAa	p.R2012Q		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2012					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)	AGCCAGAGTTCGTCCAGTAAG	0.433000														137			110		0	0	0.000781405	0	0
CADPS2	93664	broad.mit.edu	37	7	122114438	122114438	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:122114438G>A	uc022akp.1	-	11	2405	c.1983C>T	c.(1981-1983)tgC>tgT	p.C661C	CADPS2_uc003vkg.4_Silent_p.C362C|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Silent_p.C662C|CADPS2_uc022akr.1_Silent_p.C665C	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	665					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TACTCACCAAGCAAGAATAGG	0.363000														99			16		0	0	0.000566183	0	0
TMEM85	51234	broad.mit.edu	37	15	34521959	34521959	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:34521959G>A	uc001zhq.3	+	4	593	c.522G>A	c.(520-522)atG>atA	p.M174I	TMEM85_uc001zhs.3_Missense_Mutation_p.G121R	NM_016454	NP_057538	Q5J8M3	TMM85_HUMAN	Homo sapiens transmembrane protein 85 (TMEM85), mRNA.	174					apoptosis	integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7		all_lung(180;1.15e-06)		all cancers(64;1.03e-17)|GBM - Glioblastoma multiforme(113;3.33e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)|Lung(196;0.217)		TTCAGAGAATGGAGTTCAGTG	0.388000														59			14		0	0	0.000308642	0	0
SRGAP3	9901	broad.mit.edu	37	3	9055491	9055491	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:9055491G>A	uc003brf.1	-	15	2525	c.1849C>T	c.(1849-1851)Caa>Taa	p.Q617*	SRGAP3_uc003brg.1_Nonsense_Mutation_p.Q593*	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	617	Rho-GAP.				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)		AGGATTTGTTGGATCTGGTGC	0.532000			T	RAF1	pilocytic astrocytoma									32			11		0	0	0.00185496	0	0
LSM14A	26065	broad.mit.edu	37	19	34685389	34685389	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:34685389C>T	uc002nvb.4	+	1	324	c.128C>T	c.(127-129)tCc>tTc	p.S43F	LSM14A_uc002nva.4_Missense_Mutation_p.S43F|LSM14A_uc010xru.2_Missense_Mutation_p.S43F	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), transcript variant 1, mRNA.	43					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					CCAGTTCGATCCTTTGGTACA	0.403000														37			40		0	0	0.000781405	0	0
TRMT11	60487	broad.mit.edu	37	6	126319784	126319784	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:126319784C>T	uc003qam.3	+	5	597	c.476C>T	c.(475-477)cCa>cTa	p.P159L	TRMT11_uc003qan.3_Non-coding_Transcript|TRMT11_uc010kev.3_Missense_Mutation_p.P159L	NM_001031712	NP_001026882	Q7Z4G4	TRM11_HUMAN	Homo sapiens tRNA methyltransferase 11 homolog (S. cerevisiae) (TRMT11), mRNA.	159					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		GGTTTAGACCCAAACTGCATC	0.338000														48			18		0	0	0.000958276	0	0
ATP6V1G3	127124	broad.mit.edu	37	1	198509744	198509744	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:198509744G>A	uc009wzd.3	-	0	72	c.37C>T	c.(37-39)Cag>Tag	p.Q13*	ATP6V1G3_uc001gup.3_Nonsense_Mutation_p.Q13*|ATP6V1G3_uc001guo.3_Nonsense_Mutation_p.Q13*	NM_133262	NP_573569	Q96LB4	VATG3_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3 (ATP6V1G3), transcript variant 1, mRNA.	13					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						TTTTCTGCCTGAAGAAGCTGG	0.478000														72			29		0	0	0.000814825	0	0
MAGEC1	9947	broad.mit.edu	37	X	140995398	140995398	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:140995398C>T	uc004fbt.3	+	3	2532	c.2208C>T	c.(2206-2208)ttC>ttT	p.F736F	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.F395F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	736							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GGGAGGACTTCCAGTCTTCTC	0.552000										HNSCC(15;0.026)				60			18		0	0	0.00074312	0	0
FAM75A6	389730	broad.mit.edu	37	9	43625319	43625319	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:43625319C>T	uc011lrb.2	-	3	3397	c.3368G>A	c.(3367-3369)gGa>gAa	p.G1123E		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	1123						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						AGTCCTCAATCCTTCAAGCCT	0.473000														61			25		0	0	0.00222228	0	0
MLL3	58508	broad.mit.edu	37	7	151845611	151845611	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:151845611C>T	uc003wla.3	-	51	13620	c.13401G>A	c.(13399-13401)aaG>aaA	p.K4467K	MLL3_uc003wkz.3_Silent_p.K3585K|MLL3_uc003wkx.3_Silent_p.K625K|MLL3_uc003wky.3_Silent_p.K2031K	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4467					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.K4467M(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TGGCACCCGTCTTGTGACAGA	0.453000			N		medulloblastoma									195			30		0	0	0.000692331	0	0
ZNF777	27153	broad.mit.edu	37	7	149152685	149152685	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:149152685G>A	uc003wfv.3	-	1	592	c.429C>T	c.(427-429)tcC>tcT	p.S143S		NM_015694	NP_056509	Q9ULD5	ZN777_HUMAN	Homo sapiens zinc finger protein 777 (ZNF777), mRNA.	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAACTGTTGGGGAAAGGGTCA	0.587000														155			16		0	0	0.000422831	0	0
UGT2B11	10720	broad.mit.edu	37	4	70080130	70080130	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:70080130C>T	uc003heh.3	-	0	320	c.311G>A	c.(310-312)aGc>aAc	p.S104N	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	104					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						TAACCAAAAGCTATCTTTTCG	0.289000														25			19		0	0	0.000586117	0	0
GPRC5C	55890	broad.mit.edu	37	17	72436806	72436807	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:72436806_72436807CC>TT	uc002jkp.3	+	1	1537_1538	c.1026_1027CC>TT	c.(1024-1029)atcccc>atTTcc	p.P343S	GPRC5C_uc002jkq.3_Intron|GPRC5C_uc002jkr.3_Missense_Mutation_p.P310S|GPRC5C_uc002jkt.3_Missense_Mutation_p.P298S|GPRC5C_uc002jku.3_5'Flank	NM_022036	NP_071319	Q9NQ84	GPC5C_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member C (GPRC5C), transcript variant 1, mRNA.	298						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TCTACGTCATCCCCGAGGTCTC	0.624000														11			13		0	0	6.4e-05	0	0
TRRAP	8295	broad.mit.edu	37	7	98591302	98591302	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:98591302C>T	uc003upp.3	+	64	10156	c.9947C>T	c.(9946-9948)tCt>tTt	p.S3316F	TRRAP_uc011kis.2_Missense_Mutation_p.S3287F|TRRAP_uc003upr.3_Missense_Mutation_p.S3022F	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3316					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACCCTTCTGTCTTCCCTGGAA	0.537000														50			11		0	0	0.000978159	0	0
FOXS1	2307	broad.mit.edu	37	20	30433048	30433048	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:30433048C>T	uc002wwt.1	-	0	373	c.298G>A	c.(298-300)Gac>Aac	p.D100N		NM_004118	NP_004109	O43638	FOXS1_HUMAN	Homo sapiens forkhead box S1 (FOXS1), mRNA.	100					Notch signaling pathway|anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	DNA bending activity|chromatin DNA binding|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						TCAAACATGTCGTGGCAGTCA	0.677000														27			6		0	0	0.000157383	0	0
RIMS2	9699	broad.mit.edu	37	8	105263946	105263946	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:105263946C>T	uc003yls.3	+	27	4243	c.4002C>T	c.(4000-4002)ttC>ttT	p.F1334F	RIMS2_uc003ylp.3_Silent_p.F1316F|RIMS2_uc003ylq.3_Silent_p.F1130F|RIMS2_uc003ylr.3_Silent_p.F1155F	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1378	C2 2.				intracellular protein transport	cell junction|presynaptic membrane	Rab GTPase binding|metal ion binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCAAACTTTTCCCACCTTCCT	0.448000										HNSCC(12;0.0054)				69			61		0	0	0.000781405	0	0
TRIM62	55223	broad.mit.edu	37	1	33623903	33623903	+	Silent	SNP	G	A	A	rs115222802	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:33623903G>A	uc001bxb.3	-	3	1466	c.828C>T	c.(826-828)ggC>ggT	p.G276G		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	Homo sapiens tripartite motif containing 62 (TRIM62), mRNA.	276						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				ACTGCAGGGGGCCTGTGTACT	0.562000														63			15		0	0	0.000566183	0	0
CNNM2	54805	broad.mit.edu	37	10	104828438	104828438	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:104828438C>T	uc001kwm.3	+	4	2289	c.2126C>T	c.(2125-2127)gCc>gTc	p.A709V	CNNM2_uc001kwn.3_Missense_Mutation_p.A709V	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	709					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GAAGCGAGCGCCTTCTCATAC	0.517000														15			4		0	0	0.00024832	0	0
MFAP3	4238	broad.mit.edu	37	5	153432814	153432814	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:153432814C>T	uc010jib.2	+	2	849	c.630C>T	c.(628-630)acC>acT	p.T210T	MFAP3_uc011ddb.1_Silent_p.T64T|MFAP3_uc003lvf.2_Silent_p.T210T|MFAP3_uc021ygf.1_Silent_p.T64T	NM_005927	NP_001128509	P55082	MFAP3_HUMAN	Homo sapiens microfibrillar-associated protein 3 (MFAP3), transcript variant 1, mRNA.	210						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		CCATCATTACCTCAGCCAAAA	0.448000														27			12		0	0	0.000978159	0	0
C14orf102	55051	broad.mit.edu	37	14	90755259	90755259	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:90755259G>A	uc001xyi.2	-	10	2693	c.2460C>T	c.(2458-2460)ctC>ctT	p.L820L	C14orf102_uc010atp.1_Silent_p.L325L|C14orf102_uc001xyj.2_Silent_p.L589L	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	820							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		TGAGCTCACAGAGGTCAGAGT	0.522000														24			11		0	0	0.000978159	0	0
LAMC2	3918	broad.mit.edu	37	1	183196665	183196666	+	Missense_Mutation	DNP	GG	TT	TT			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:183196665_183196666GG>TT	uc001gqa.2	+	9	1615_1616	c.1301_1302GG>TT	c.(1300-1302)ggg>gTT	p.G434V	LAMC2_uc001gpz.4_Missense_Mutation_p.G434V|LAMC2_uc010poa.2_Missense_Mutation_p.G134V	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	434	Laminin EGF-like 5.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TGTTATTCAGGGGATGAGAATC	0.515000														124			8		0	0	6.4e-05	0	0
SLC26A5	375611	broad.mit.edu	37	7	103033422	103033422	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:103033422T>C	uc003vbz.3	-	9	1325	c.1063A>G	c.(1063-1065)Atc>Gtc	p.I355V	SLC26A5_uc003vbt.2_Missense_Mutation_p.I355V|SLC26A5_uc003vbu.2_Missense_Mutation_p.I355V|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Intron|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.I355V	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	355					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GCCATGGAGATGGTCACTGAA	0.468000														89			8		0	0	0.000274275	0	0
IL6ST	3572	broad.mit.edu	37	5	55251907	55251907	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:55251907G>A	uc003jqq.3	-	9	1526	c.1213C>T	c.(1213-1215)Ctt>Ttt	p.L405F	IL6ST_uc003jqp.3_Intron|IL6ST_uc010iwd.3_Intron|IL6ST_uc011cqk.2_Missense_Mutation_p.L116F|IL6ST_uc003jqr.3_3'UTR|IL6ST_uc010iwb.3_Missense_Mutation_p.L405F	NM_002184	NP_002175	P40189	IL6RB_HUMAN	Homo sapiens interleukin 6 signal transducer (gp130, oncostatin M receptor) (IL6ST), transcript variant 1, mRNA.	405	Fibronectin type-III 3.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of T cell proliferation|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				TTGCCAACAAGATTTCTTACT	0.388000			O		hepatocellular ca									86			24		0	0	0.000878237	0	0
MYH7	4625	broad.mit.edu	37	14	23898176	23898176	+	Silent	SNP	G	A	A	rs45508293	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:23898176G>A	uc001wjx.3	-	13	1501	c.1395C>T	c.(1393-1395)ttC>ttT	p.F465F		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	465	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.F465F(4)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CGAAGATCTCGAAGCCAGCGA	0.542000														13			13		0	0	0.000308642	0	0
BDP1	55814	broad.mit.edu	37	5	70785300	70785300	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:70785300C>G	uc003kbp.1	+	9	1546	c.1283C>G	c.(1282-1284)aCg>aGg	p.T428R	BDP1_uc003kbn.1_Missense_Mutation_p.T428R|BDP1_uc003kbo.3_Missense_Mutation_p.T428R	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	428	Required for phosphorylation by CSNK2A1.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATTTCAGACACGGAAAGATCT	0.378000														52			14		0	0	0.000566183	0	0
ABCA12	26154	broad.mit.edu	37	2	215928821	215928821	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:215928821C>T	uc002vew.3	-	2	505	c.285G>A	c.(283-285)agG>agA	p.R95R	ABCA12_uc010zjn.2_5'UTR	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	95					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			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)		CAATTCCTTTCCTACGAAGCA	0.438000														30			24		0	0	0.00278032	0	0
GCNT1	2650	broad.mit.edu	37	9	79118029	79118029	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:79118029G>A	uc022bif.1	+	0	732	c.732G>A	c.(730-732)acG>acA	p.T244T	GCNT1_uc010mpf.3_Silent_p.T244T|GCNT1_uc010mpg.3_Silent_p.T244T|GCNT1_uc010mph.3_Silent_p.T244T|GCNT1_uc004akf.4_Silent_p.T244T|GCNT1_uc010mpi.3_Silent_p.T244T|GCNT1_uc004akh.4_Silent_p.T244T	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA.	244	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity	p.T244T(4)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						ACCTGGAAACGGAGAGGATGC	0.418000														31			10		0	0	0.000978159	0	0
MTBP	27085	broad.mit.edu	37	8	121530281	121530281	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:121530281A>T	uc003ypc.1	+	18	2482	c.2437A>T	c.(2437-2439)Atg>Ttg	p.M813L		NM_022045	NP_071328	Q96DY7	MTBP_HUMAN	Homo sapiens Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa (MTBP), mRNA.	813	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TCAAAAAAGTATGCATGAATC	0.373000														48			10		0	0	0.000673444	0	0
GSDMC	56169	broad.mit.edu	37	8	130789707	130789707	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:130789707T>A	uc003ysr.3	-	1	1009	c.127A>T	c.(127-129)Aag>Tag	p.K43*		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	43						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CGAGAATCCTTCTTCTTTCGT	0.393000														83			15		0	0	0.000422831	0	0
PLCB4	5332	broad.mit.edu	37	20	9391704	9391704	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:9391704C>T	uc021wam.1	+	20	1999	c.1984C>T	c.(1984-1986)Cag>Tag	p.Q662*	PLCB4_uc010gbw.1_Nonsense_Mutation_p.Q662*|PLCB4_uc010gbx.3_Nonsense_Mutation_p.Q674*|PLCB4_uc021wal.1_Nonsense_Mutation_p.Q662*|PLCB4_uc002wnh.3_Nonsense_Mutation_p.Q509*	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	662	PI-PLC Y-box.				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						GCAATTGAATCAGGGAAAATT	0.368000														67			9		0	0	0.00185496	0	0
PLA2G3	50487	broad.mit.edu	37	22	31536267	31536267	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:31536267C>T	uc003aka.3	-	0	203	c.74G>A	c.(73-75)cGc>cAc	p.R25H		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	25					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						CCTGTACCAGCGGAGGGCAGG	0.657000														19			5		0	0	0.000602214	0	0
CYP4A22	284541	broad.mit.edu	37	1	47614403	47614403	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:47614403C>T	uc001cqv.1	+	11	1545	c.1494C>T	c.(1492-1494)tcC>tcT	p.S498S		NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	498						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGTTGAAATCCAAAAATGGAA	0.587000														41			7		0	0	0.000157383	0	0
C10orf120	399814	broad.mit.edu	37	10	124457997	124457997	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:124457997C>T	uc001lgn.3	-	2	292	c.260G>A	c.(259-261)gGt>gAt	p.G87D		NM_001010912	NP_001010912	Q5SQS8	CJ120_HUMAN	Homo sapiens chromosome 10 open reading frame 120 (C10orf120), mRNA.	87										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				GTGAATGCCACCTAGACGCTG	0.488000														123			60		0	0	0.000781405	0	0
SLC26A9	115019	broad.mit.edu	37	1	205897158	205897158	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:205897158G>A	uc001hdp.3	-	8	1087	c.973C>T	c.(973-975)Cct>Tct	p.P325S	SLC26A9_uc001hdo.3_5'UTR|SLC26A9_uc001hdq.3_Missense_Mutation_p.P325S	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	325						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GAGACCACAGGCGACACCGGG	0.622000														21			6		0	0	0.00116845	0	0
OR4K15	81127	broad.mit.edu	37	14	20444427	20444427	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:20444427G>A	uc010tkx.2	+	0	750	c.750G>A	c.(748-750)agG>agA	p.R250R		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTACAGTTAGGAATCGCTCCT	0.438000														19			8		0	0	0.000157383	0	0
NES	10763	broad.mit.edu	37	1	156640236	156640236	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:156640236C>T	uc001fpq.3	-	3	3877	c.3744G>A	c.(3742-3744)ggG>ggA	p.G1248G	NES_uc021pbh.1_Silent_p.G166G	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	1248	Tail.				G2/M transition of mitotic cell cycle|brain development|embryonic camera-type eye development|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCCCCTGCACCCCCCAGCTAG	0.662000														50			18		0	0	0.00278032	0	0
LRFN2	57497	broad.mit.edu	37	6	40359793	40359793	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:40359793C>T	uc003oph.1	-	2	2724	c.2259G>A	c.(2257-2259)acG>acA	p.T753T		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	753						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCTGCGCTTCGTCCAGATGT	0.642000														47			5		0	0	0.000157383	0	0
ANKRD30B	374860	broad.mit.edu	37	18	14851614	14851614	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:14851614A>C	uc010dlo.2	+	35	3494	c.3314A>C	c.(3313-3315)cAc>cCc	p.H1105P	ANKRD30B_uc021uhy.1_Missense_Mutation_p.H1105P|ANKRD30B_uc010xal.1_Missense_Mutation_p.H247P	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	1190										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAACATCAACACCAGGTGAAG	0.338000														25			9		0	0	0.000274275	0	0
OR10H4	126541	broad.mit.edu	37	19	16059904	16059904	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:16059904C>T	uc010xov.2	+	0	87	c.87C>T	c.(85-87)ttC>ttT	p.F29F		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						CCATCTTGTTCCTGCTGTACC	0.483000														73			17		0	0	0.000958276	0	0
PCLO	27445	broad.mit.edu	37	7	82580168	82580168	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:82580168G>A	uc003uhx.2	-	5	10025	c.9736C>T	c.(9736-9738)Cga>Tga	p.R3246*	PCLO_uc003uhv.2_Nonsense_Mutation_p.R3246*|PCLO_uc010lec.3_Nonsense_Mutation_p.R211*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3177	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R3246R(3)|p.R3177R(1)|p.R3246L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTTGTTCTCGGAACCTTTGA	0.473000														31			70		0	0	0.000781405	0	0
RBM24	221662	broad.mit.edu	37	6	17291987	17291987	+	Splice_Site	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr6:17291987G>A	uc003nbz.4	+	4	352	c.348_splice	c.e4-1	p.G116_splice	RBM24_uc003nby.4_Splice_Site|RBM24_uc011dix.2_Splice_Site_p.G58_splice|RBM24_uc003nca.3_Splice_Site_p.G71_splice|RBM24_uc011diy.2_Splice_Site_p.G30_splice|RBM24_uc011diz.2_Splice_Site_p.G15_splice	NM_001143942	NP_001137413	Q9BX46	RBM24_HUMAN	Homo sapiens RNA binding motif protein 24 (RBM24), transcript variant 1, mRNA.	116					cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			TTCTCAACAGGATACCTGCCC	0.488000														193			28		0	0	0.0024448	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518146	84518146	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:84518146G>A	uc010ffz.1	+	0	341	c.204G>A	c.(202-204)aaG>aaA	p.K68K						Homo sapiens FUN14 domain containing 2 pseudogene 2 (FUNDC2P2), non-coding RNA.																		AGGTTGGAAAGTTGGCTGCAA	0.478000														55			7		0	0	0.000442599	0	0
GABRE	2564	broad.mit.edu	37	X	151130984	151130984	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:151130984C>T	uc004ffi.3	-	3	528	c.474G>A	c.(472-474)agG>agA	p.R158R	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript|MIR452_uc022cgx.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	158					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTAGAATTCCTAAAAAAGG	0.493000														28			6		0	0	0.00116845	0	0
RANBP3L	202151	broad.mit.edu	37	5	36257608	36257608	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:36257608C>T	uc011cow.2	-	9	1288	c.795G>A	c.(793-795)aaG>aaA	p.K265K	RANBP3L_uc003jkh.3_Silent_p.K240K	NM_001161429	NP_001154901	Q86VV4	RNB3L_HUMAN	Homo sapiens RAN binding protein 3-like (RANBP3L), transcript variant 1, mRNA.	240					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			ATGGTTTTTCCTTGGCATATG	0.308000														89			11		0	0	0.00244969	0	0
MUC16	94025	broad.mit.edu	37	19	9075747	9075747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr19:9075747G>A	uc002mkp.3	-	2	11903	c.11699C>T	c.(11698-11700)tCc>tTc	p.S3900F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3901	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						TACACTGGAGGAGCTGGTAAC	0.458000														18			7		0	0	0.000274275	0	0
IGF2BP1	10642	broad.mit.edu	37	17	47118803	47118803	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:47118803G>A	uc002iom.3	+	7	1216	c.882G>A	c.(880-882)aaG>aaA	p.K294K	IGF2BP1_uc010dbj.3_Silent_p.K155K	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	294	KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCATTGGCAAGGAAGGACGGA	0.483000														50			6		0	0	0.00116845	0	0
CCDC24	149473	broad.mit.edu	37	1	44461751	44461751	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:44461751G>A	uc001clj.3	+	8	1014	c.843G>A	c.(841-843)tgG>tgA	p.W281*	SLC6A9_uc009vxe.2_Intron|SLC6A9_uc010okm.1_Intron|CCDC24_uc009vxc.3_Nonsense_Mutation_p.W245*	NM_152499	NP_689712	Q8N4L8	CCD24_HUMAN	Homo sapiens coiled-coil domain containing 24 (CCDC24), mRNA.	281										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCCACCGCTGGGGACGGCAGC	0.672000														15			9		0	0	0.000274275	0	0
OCIAD1	54940	broad.mit.edu	37	4	48844704	48844704	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:48844704A>T	uc010igk.3	+	3	422	c.206A>T	c.(205-207)aAa>aTa	p.K69I	OCIAD1_uc011bzk.2_Non-coding_Transcript|OCIAD1_uc003gyo.3_Missense_Mutation_p.K64I|OCIAD1_uc003gyq.3_Missense_Mutation_p.K64I|OCIAD1_uc003gyp.3_Missense_Mutation_p.K64I|OCIAD1_uc003gyr.3_Missense_Mutation_p.K64I|OCIAD1_uc021xoc.1_Missense_Mutation_p.K64I	NM_001168254	NP_001161726	Q9NX40	OCAD1_HUMAN	Homo sapiens OCIA domain containing 1 (OCIAD1), transcript variant 6, mRNA.	64	OCIA.					endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						TTAATTAGTAAAGGTAAATAT	0.279000														75			11		0	0	0.000978159	0	0
SPOCK1	6695	broad.mit.edu	37	5	136602742	136602742	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:136602742A>C	uc003lbo.3	-	1	380	c.189T>G	c.(187-189)gaT>gaG	p.D63E	SPOCK1_uc003lbp.3_Missense_Mutation_p.D63E	NM_004598	NP_004589	Q08629	TICN1_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.	63					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGAAATAATCATCCTATATAA	0.363000														66			19		0	0	0.000958276	0	0
PHF21B	112885	broad.mit.edu	37	22	45312175	45312175	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr22:45312175G>A	uc003bfn.3	-	3	700	c.549C>T	c.(547-549)atC>atT	p.I183I	PHF21B_uc011aqk.2_Silent_p.I171I|PHF21B_uc003bfm.3_Silent_p.I21I|PHF21B_uc011aql.2_Silent_p.I183I|PHF21B_uc011aqm.1_Silent_p.I171I	NM_138415	NP_612424	Q96EK2	PF21B_HUMAN	Homo sapiens PHD finger protein 21B (PHF21B), transcript variant 1, mRNA.	183							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TGTCAGCACTGATGAGGAGGG	0.612000														22			11		0	0	0.00185496	0	0
PLCG1	5335	broad.mit.edu	37	20	39788792	39788792	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:39788792C>T	uc002xjp.1	+	4	633	c.512_splice	c.e4+1	p.R171_splice	PLCG1_uc002xjo.1_Splice_Site_p.R171_splice	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	171	EF-hand.				T cell receptor signaling pathway|activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TCGTGAGGATCGGTAAGTACT	0.587000														21			6		0	0	0.000157383	0	0
LAMA3	3909	broad.mit.edu	37	18	21495344	21495344	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:21495344A>T	uc002kuq.3	+	58	7822	c.7736A>T	c.(7735-7737)aAa>aTa	p.K2579I	LAMA3_uc002kur.3_Missense_Mutation_p.K2523I|LAMA3_uc002kus.4_Missense_Mutation_p.K970I|LAMA3_uc002kut.4_Missense_Mutation_p.K914I	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2579	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AACTTCAAAAAAACATTCAAT	0.368000														90			13		0	0	0.00244969	0	0
CYLC1	1538	broad.mit.edu	37	X	83128246	83128246	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:83128246C>T	uc004eei.1	+	3	551	c.530C>T	c.(529-531)tCc>tTc	p.S177F	CYLC1_uc004eeh.1_Missense_Mutation_p.S176F	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	177					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AAGTCAAAATCCAGTTCAGAA	0.313000														19			4		0	0	0.00024832	0	0
EFTUD2	9343	broad.mit.edu	37	17	42937815	42937815	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:42937815G>A	uc002ihn.2	-	16	1965	c.1704C>T	c.(1702-1704)ccC>ccT	p.P568P	EFTUD2_uc010wje.1_Silent_p.P533P|EFTUD2_uc010wjf.1_Silent_p.P558P	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	568						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CATTGCCTCGGGGTTCGGTTA	0.502000														50			12		0	0	0.00185496	0	0
CCDC88C	440193	broad.mit.edu	37	14	91791245	91791245	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr14:91791245C>T	uc010aty.3	-	11	1374	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	407					Wnt receptor signaling pathway|microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation	cytoplasm|insoluble fraction	PDZ domain binding|microtubule binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCCTCAATTCGTTTCTTATC	0.552000														25			7		0	0	0.000274275	0	0
CCDC38	120935	broad.mit.edu	37	12	96292215	96292215	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:96292215G>A	uc001tek.2	-	6	796	c.562C>T	c.(562-564)Caa>Taa	p.Q188*		NM_182496	NP_872302	Q502W7	CCD38_HUMAN	Homo sapiens coiled-coil domain containing 38 (CCDC38), mRNA.	188										breast(1)|endometrium(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTGTCATTTGGAGTTTGTTT	0.418000														131			33		0	0	0.00058488	0	0
SCN11A	11280	broad.mit.edu	37	3	38936198	38936198	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:38936198C>T	uc021wvy.1	-	14	2860	c.2661G>A	c.(2659-2661)atG>atA	p.M887I	SCN11A_uc010hhn.1_Missense_Mutation_p.M3I	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	887					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	AGCCCCTTTTCATCTCCATGA	0.527000														33			10		0	0	0.000673444	0	0
MYF5	4617	broad.mit.edu	37	12	81111096	81111097	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:81111096_81111097GG>AA	uc001szg.2	+	0	389_390	c.254_255GG>AA	c.(253-255)cgg>cAA	p.R85Q		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	85					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.R85W(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						ATGGATCGGCGGAAGGCAGCCA	0.629000														16			8		0	0	6.4e-05	0	0
GMEB1	10691	broad.mit.edu	37	1	29029081	29029081	+	Splice_Site	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:29029081G>A	uc001bra.3	+	7	902	c.760_splice	c.e7+1	p.E254_splice	GMEB1_uc001bqz.3_Splice_Site_p.E244_splice|GMEB1_uc001brb.3_Splice_Site_p.E244_splice	NM_006582	NP_006573	Q9Y692	GMEB1_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 1 (GMEB1), transcript variant 1, mRNA.	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|metal ion binding|transcription coactivator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)	11		Colorectal(325;3.46e-05)|Lung NSC(340;0.000451)|all_lung(284;0.00063)|Breast(348;0.00502)|Renal(390;0.00555)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-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)		GGAAATTTCAGGTATTCTTCT	0.483000														40			11		0	0	0.00185496	0	0
SAMD9L	219285	broad.mit.edu	37	7	92764573	92764573	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:92764573G>A	uc003umh.1	-	4	1928	c.712C>T	c.(712-714)Cat>Tat	p.H238Y	SAMD9L_uc003umj.1_Missense_Mutation_p.H238Y|SAMD9L_uc003umi.1_Missense_Mutation_p.H238Y|SAMD9L_uc010lfb.1_Missense_Mutation_p.H238Y|SAMD9L_uc003umk.1_Missense_Mutation_p.H238Y|SAMD9L_uc010lfc.1_Missense_Mutation_p.H238Y|SAMD9L_uc010lfd.1_Missense_Mutation_p.H238Y|SAMD9L_uc022ahh.1_Missense_Mutation_p.H238Y	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	238										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ACTCCAAAATGGATGGTGCCA	0.418000														53			8		0	0	0.000157383	0	0
TRIML2	205860	broad.mit.edu	37	4	189022258	189022258	+	Silent	SNP	C	T	T	rs141580546	by1000genomes	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:189022258C>T	uc011cle.1	-	2	654	c.432G>A	c.(430-432)gcG>gcA	p.A144A	TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc003izl.2_Silent_p.A94A|TRIML2_uc011clf.1_Silent_p.A144A	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	94							ligase activity	p.E143*(1)		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)		CAAGCTTGATCGCTTGATTCA	0.433000														16			17		0	0	0.00074312	0	0
TRIM60	166655	broad.mit.edu	37	4	165961962	165961962	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:165961962G>A	uc003iqy.1	+	2	908	c.738G>A	c.(736-738)ctG>ctA	p.L246L	TRIM60_uc010iqx.1_Silent_p.L246L|TRIM60_uc021xty.1_Silent_p.L246L	NM_152620	NP_689833	Q495X7	TRI60_HUMAN	Homo sapiens tripartite motif containing 60 (TRIM60), mRNA.	246						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		AGTCAAACCTGGAATTACTGA	0.363000														30			11		0	0	0.000978159	0	0
USH2A	7399	broad.mit.edu	37	1	215916657	215916657	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:215916657G>A	uc001hku.1	-	58	11797	c.11410C>T	c.(11410-11412)Cct>Tct	p.P3804S		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3804	Fibronectin type-III 23.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P3804S(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TACTCCACAGGAATTTCGGGG	0.403000										HNSCC(13;0.011)				76			8		0	0	0.000673444	0	0
FEZF1	389549	broad.mit.edu	37	7	121942985	121942985	+	Splice_Site	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:121942985C>T	uc003vkd.3	-	3	1011	c.937_splice	c.e3-1	p.E313_splice	FEZF1_uc003vkc.3_Splice_Site_p.E263_splice|LOC154860_uc010lko.2_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA.	313					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						TGAGGTTTTTCCTAAGCAGGA	0.383000														146			25		0	0	0.001512	0	0
TECRL	253017	broad.mit.edu	37	4	65145907	65145907	+	Silent	SNP	A	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:65145907A>G	uc003hcv.3	-	11	1084	c.975T>C	c.(973-975)ttT>ttC	p.F325F	TECRL_uc010ihi.3_Non-coding_Transcript	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN	Homo sapiens trans-2,3-enoyl-CoA reductase-like (TECRL), mRNA.	325					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	p.I324F(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TCAGAAGTGTAAAAATTCCAA	0.269000														43			8		0	0	0.000673444	0	0
PDZD2	23037	broad.mit.edu	37	5	32090179	32090179	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:32090179G>A	uc003jhl.3	+	19	7013	c.6625G>A	c.(6625-6627)Gag>Aag	p.E2209K	PDZD2_uc003jhm.3_Missense_Mutation_p.E2209K	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	2209					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.G2208V(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCCCTCGGGGGAGGACCATCT	0.587000														86			27		0	0	0.00106085	0	0
NFE2	4778	broad.mit.edu	37	12	54686971	54686971	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:54686971G>A	uc009znk.3	-	1	819	c.309C>T	c.(307-309)gcC>gcT	p.A103A	NFE2_uc001sfq.3_Silent_p.A103A|NFE2_uc001sfr.4_Silent_p.A103A|NFE2_uc009znl.3_Silent_p.A103A	NM_006163	NP_006154	Q16621	NFE2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA.	103	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						AGACTGGTATGGCCATGTTGC	0.592000														48			28		0	0	0.00178596	0	0
TBC1D14	57533	broad.mit.edu	37	4	7000918	7000918	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:7000918C>T	uc011bwg.2	+	5	1231	c.1152C>T	c.(1150-1152)aaC>aaT	p.N384N	TBC1D14_uc003gjs.4_Silent_p.N384N|TBC1D14_uc010idh.3_Silent_p.N104N|TBC1D14_uc011bwh.2_5'UTR|TBC1D14_uc003gju.4_5'Flank	NM_001113361	NP_065824	Q9P2M4	TBC14_HUMAN	Homo sapiens TBC1 domain family, member 14 (TBC1D14), transcript variant 2, mRNA.	384						intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TCTTACCTAACTGGGAAACAA	0.493000														51			11		0	0	0.00185496	0	0
ZSWIM5	57643	broad.mit.edu	37	1	45486431	45486431	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:45486431C>T	uc001cnd.2	-	11	2707	c.2479G>A	c.(2479-2481)Gaa>Aaa	p.E827K		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	827							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGTATTGCTTCCAGAATTGTT	0.438000														138			44		0	0	0.000781405	0	0
AGAP11	119385	broad.mit.edu	37	10	88768736	88768736	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr10:88768736C>T	uc001kee.2	+	11	1931	c.727C>T	c.(727-729)Cct>Tct	p.P243S	AGAP11_uc001kef.3_Intron	NM_133447	NP_597704	Q8TF27	AGA11_HUMAN	Homo sapiens ankyrin repeat and GTPase domain Arf GTPase activating protein 11 (AGAP11), mRNA.	243	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GCCCCCCTCCCCTCATGCCAA	0.488000														57			5		0	0	0.000157383	0	0
NAA11	84779	broad.mit.edu	37	4	80246972	80246972	+	Silent	SNP	A	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr4:80246972A>T	uc003hlt.4	-	0	200	c.60T>A	c.(58-60)ctT>ctA	p.L20L	NAA11_uc021xpl.1_Silent_p.L20L	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA.	20	Interaction with NAA15 (By similarity).|N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						CAGGAAGGCAAAGGAGGTTGC	0.502000														36			10		0	0	0.000673444	0	0
TCF12	6938	broad.mit.edu	37	15	57384059	57384059	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:57384059C>T	uc002aec.3	+	4	579	c.295C>T	c.(295-297)Cca>Tca	p.P99S	TCF12_uc010ugm.1_Missense_Mutation_p.P151S|TCF12_uc010ugn.1_Missense_Mutation_p.P95S|TCF12_uc002aea.3_Missense_Mutation_p.P99S|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Missense_Mutation_p.P99S|TCF12_uc002aed.3_Missense_Mutation_p.P99S	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	99					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		AGGCTTGTCCCCAACACCTTT	0.418000			T	TEC	extraskeletal myxoid chondrosarcoma									40			11		0	0	0.00185496	0	0
CFTR	1080	broad.mit.edu	37	7	117175409	117175409	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:117175409C>T	uc003vjd.3	+	5	819	c.687C>T	c.(685-687)ttC>ttT	p.F229F	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	229	ABC transmembrane type-1 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GACTTGGTTTCCTGATAGTCC	0.448000									Cystic Fibrosis					77			15		0	0	0.000566183	0	0
INO80C	125476	broad.mit.edu	37	18	33060428	33060428	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:33060428G>A	uc010dmt.3	-	3	481	c.364C>T	c.(364-366)Ccc>Tcc	p.P122S	INO80C_uc002kyw.1_Missense_Mutation_p.P86S|INO80C_uc002kyx.4_Missense_Mutation_p.P31S|INO80C_uc002kyy.4_Missense_Mutation_p.P86S	NM_001098817	NP_001092287	Q6PI98	IN80C_HUMAN	Homo sapiens INO80 complex subunit C (INO80C), transcript variant 1, mRNA.	86					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						ACAAAGTTGGGATCCTTAAAT	0.488000														58			19		0	0	0.00152264	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140188444	140188444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:140188444G>A	uc003lhi.2	+	0	1773	c.1672G>A	c.(1672-1674)Gaa>Aaa	p.E558K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.E558K|PCDHAC2_uc011daa.2_Missense_Mutation_p.E558K	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	572	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTGGACGAAAACGACAA	0.667000														27			32		0	0	0.000953801	0	0
GATA4	2626	broad.mit.edu	37	8	11612578	11612578	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr8:11612578G>A	uc011kxc.1	+	3	1393	c.936G>A	c.(934-936)cgG>cgA	p.R312R	GATA4_uc003wub.1_Silent_p.R105R|GATA4_uc003wuc.2_Silent_p.R311R	NM_002052	NP_002043	P43694	GATA4_HUMAN	Homo sapiens GATA binding protein 4 (GATA4), mRNA.	311					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		TTGCAATGCGGAAAGAGGGGA	0.458000														42			6		0	0	0.000157383	0	0
FAT3	120114	broad.mit.edu	37	11	92570934	92570934	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:92570934C>T	uc001pdj.4	+	15	10347	c.10330C>T	c.(10330-10332)Ccg>Tcg	p.P3444S	FAT3_uc001pdi.4_5'Flank	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3444	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)				TGACAACAGCCCGGTGTTTAC	0.468000										TCGA Ovarian(4;0.039)				200			57		0	0	0.000781405	0	0
SPANXN2	494119	broad.mit.edu	37	X	142795215	142795215	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:142795215C>T	uc004fbz.3	-	1	1217	c.463G>A	c.(463-465)Gac>Aac	p.D155N		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	155										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)					TCAGGTGGGTCCAGGTCTTCG	0.512000														147			46		0	0	0.000781405	0	0
LAMA1	284217	broad.mit.edu	37	18	6999489	6999489	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:6999489C>T	uc002knm.3	-	31	4712	c.4618G>A	c.(4618-4620)Gat>Aat	p.D1540N	LAMA1_uc010wzj.2_Missense_Mutation_p.D1016N	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1540	Laminin EGF-like 17.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCACACTCATCGCACCGGAGC	0.542000														28			9		0	0	0.000673444	0	0
MYH3	4621	broad.mit.edu	37	17	10555830	10555830	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:10555830G>A	uc002gmq.2	-	3	343	c.255C>T	c.(253-255)ttC>ttT	p.F85F		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	85	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	p.K84I(1)|p.K84K(1)|p.K84M(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CGATCCTGTCGAACTTGGGGG	0.517000														32			59		0	0	0.000781405	0	0
MUC5B	727897	broad.mit.edu	37	11	1269647	1269647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:1269647C>T	uc001lta.3	+	30	11596	c.11537C>T	c.(11536-11538)gCc>gTc	p.A3846V		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3846	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				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)		ACAACCAGGGCCACCGGCTCT	0.637000														38			6		0	0	0.00198382	0	0
TNR	7143	broad.mit.edu	37	1	175362936	175362936	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:175362936C>T	uc001gkp.1	-	3	1417	c.1336G>A	c.(1336-1338)Gaa>Aaa	p.E446K	TNR_uc009wwu.1_Missense_Mutation_p.E446K|TNR_uc010pmz.1_3'UTR	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	446	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAGCTGATTTCCCACCCATCG	0.473000														122			25		0	0	0.00127121	0	0
ANPEP	290	broad.mit.edu	37	15	90335429	90335429	+	Silent	SNP	T	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr15:90335429T>G	uc002bop.4	-	17	2782	c.2490A>C	c.(2488-2490)gcA>gcC	p.A830A		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	830	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	ER-Golgi intermediate compartment|cytosol|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	AGGCCAGGGCTGCCCGGAGCT	0.632000														28			9		0	0	0.000673444	0	0
EIF4B	1975	broad.mit.edu	37	12	53421854	53421854	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr12:53421854G>A	uc001sbh.4	+	7	1067	c.861G>A	c.(859-861)agG>agA	p.R287R	EIF4B_uc010snu.2_Silent_p.R287R|EIF4B_uc010snv.2_Silent_p.R248R	NM_001417	NP_001408	P23588	IF4B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4B (EIF4B), mRNA.	287	Arg-rich.|Asp-rich.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GGTATCGCAGGGATGATGACT	0.502000														46			17		0	0	0.000566183	0	0
ACAP1	9744	broad.mit.edu	37	17	7250350	7250350	+	Splice_Site	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr17:7250350G>A	uc002ggd.2	+	14	1338	c.1132_splice	c.e14-1	p.G378_splice		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	378	Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TCTCCCCCAGGGCTCAGGACA	0.672000														2			7		0	0	0.00198382	0	0
TMEM45B	120224	broad.mit.edu	37	11	129725636	129725636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:129725636C>T	uc001qfe.1	+	3	480	c.419C>T	c.(418-420)cCt>cTt	p.P140L	TMEM45B_uc001qff.1_Missense_Mutation_p.P140L	NM_138788	NP_620143	Q96B21	TM45B_HUMAN	Homo sapiens transmembrane protein 45B (TMEM45B), mRNA.	140						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		CACAACCGGCCTCCGCTGGAC	0.552000														61			6		0	0	0.00198382	0	0
CDKN1C	1028	broad.mit.edu	37	11	2906618	2906618	+	Silent	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:2906618G>A	uc001lws.4	-	0	378	c.102C>T	c.(100-102)ttC>ttT	p.F34F	CDKN1C_uc001lwu.4_Silent_p.F23F|CDKN1C_uc009ydr.3_Silent_p.F23F|CDKN1C_uc001lwr.4_Silent_p.F34F	NM_000076	NP_001116103	P49918	CDN1C_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1C (p57, Kip2) (CDKN1C), transcript variant 1, mRNA.	34					G1 phase of mitotic cell cycle|cell cycle arrest|negative regulation of epithelial cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding			central_nervous_system(1)|lung(1)	2		all_epithelial(84;0.000187)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|Breast(177;0.00328)|all_neural(188;0.00681)|all_lung(207;0.157)|Lung NSC(207;0.216)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCACCGGCCCGAAGAGGCTGC	0.682000														26			6		0	0	0.00116845	0	0
GTF3C1	2975	broad.mit.edu	37	16	27523104	27523104	+	Silent	SNP	G	A	A	rs142782053	byFrequency	TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr16:27523104G>A	uc002dov.2	-	6	1132	c.1092C>T	c.(1090-1092)ttC>ttT	p.F364F	GTF3C1_uc002dou.3_Silent_p.F364F	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	364						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TATCCCGCTCGAACACAATGT	0.507000														38			13		0	0	0.00244969	0	0
THBS4	7060	broad.mit.edu	37	5	79354581	79354581	+	Silent	SNP	C	T	T			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:79354581C>T	uc021yaw.1	+	4	891	c.700C>T	c.(700-702)Ctg>Ttg	p.L234L		NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	234					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)		AAACCAACTCCTGGGAGAGGT	0.483000														43			11		0	0	0.00185496	0	0
CNGA2	1260	broad.mit.edu	37	X	150906984	150906984	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chrX:150906984G>A	uc004fey.1	+	1	253	c.29G>A	c.(28-30)aGc>aAc	p.S10N		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	10					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGTGAAGAGCTCCCCAGCC	0.512000														49			21		0	0	0.000720815	0	0
BRDT	676	broad.mit.edu	37	1	92428378	92428378	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr1:92428378delA	uc001dol.4	+	2	485	c.67delA	c.(67-69)aagfs	p.K23fs	BRDT_uc010osz.2_Frame_Shift_Del_p.K23fs|BRDT_uc001dok.4_Frame_Shift_Del_p.K23fs|BRDT_uc009wdf.3_Intron|BRDT_uc010otb.2_Frame_Shift_Del_p.K23fs|BRDT_uc010ota.2_Frame_Shift_Del_p.K23fs|BRDT_uc001dom.4_Frame_Shift_Del_p.K23fs	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	23					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TATAAATACTAAGAAAAATGG	0.368													---	95	---	---	23	---					
UBR3	130507	broad.mit.edu	37	2	170929938	170929940	+	In_Frame_Del	DEL	GAA	-	-			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr2:170929938_170929940delGAA	uc010zdi.2	+	35	5020_5022	c.5020_5022delGAA	c.(5020-5022)gaadel	p.E1677del	UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_In_Frame_Del_p.E498del|UBR3_uc002uft.4_In_Frame_Del_p.E534del|UBR3_uc010zdj.2_In_Frame_Del_p.E368del|UBR3_uc002ufu.4_In_Frame_Del_p.E183del	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.	1677					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TGTCTAAAAGGAAGAAGAAGAAT	0.379													---	91	---	---	42	---					
MTMR14	64419	broad.mit.edu	37	3	9695378	9695383	+	In_Frame_Del	DEL	ATGGGG	-	-			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr3:9695378_9695383delATGGGG	uc003brz.3	+	1	384_389	c.233_238delATGGGG	c.(232-240)aatggggat>aat	p.GD79del	MTMR14_uc003bsa.3_In_Frame_Del_p.GD79del|MTMR14_uc003bsb.3_In_Frame_Del_p.GD79del|MTMR14_uc011ath.2_Non-coding_Transcript|MTMR14_uc010hcl.3_Intron	NM_001077525	NP_001070993	Q8NCE2	MTMRE_HUMAN	Homo sapiens myotubularin related protein 14 (MTMR14), transcript variant 2, mRNA.	79						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					CCAAACACGAATGGGGATATCTGTGG	0.500													---	89	---	---	18	---					
ANKRD32	84250	broad.mit.edu	37	5	94030940	94030941	+	Frame_Shift_Del	DEL	GT	-	-			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:94030940_94030941delGT	uc003kkr.4	+	20	3180_3181	c.3100_3101delGT	c.(3100-3102)gtgfs	p.V1034fs	ANKRD32_uc003kks.3_Frame_Shift_Del_p.V398fs	NM_032290	NP_115666	Q9BQI6	ANR32_HUMAN	Homo sapiens ankyrin repeat domain 32 (ANKRD32), mRNA.	1034										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		GAATTTGAAAGTGTGTCCTGGG	0.411													---	51	---	---	13	---					
RAB9BP1	9366	broad.mit.edu	37	5	104435260	104435260	+	RNA	DEL	T	-	-			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr5:104435260delT	uc003kok.3	+	0		c.86delT								Homo sapiens RAB9B, member RAS oncogene family pseudogene 1 (RAB9BP1), non-coding RNA.																		AGATATGTAATTAATAAGTTT	0.353													---	15	---	---	8	---					
GPR37	2861	broad.mit.edu	37	7	124404490	124404490	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr7:124404490delA	uc003vli.3	-	0	1192	c.541delT	c.(541-543)tacfs	p.Y181fs		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	181						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTGGCCAGTAAAAAAGATCG	0.602													---	104	---	---	14	---					
SLC34A3	142680	broad.mit.edu	37	9	140130595	140130596	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr9:140130595_140130596insG	uc022bqf.1	+	12	1748_1749	c.1527_1528insG	c.(1525-1530)gcagggfs	p.A509fs	SLC34A3_uc011met.2_Frame_Shift_Ins_p.A509fs|SLC34A3_uc004cmf.1_Frame_Shift_Ins_p.A509fs	NM_001177316	NP_543153	Q8N130	NPT2C_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 3 (SLC34A3), transcript variant 1, mRNA.	509					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCTCCCTGGCAGGGGGCATGGA	0.718											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	3	---	---	4	---					
SLC29A2	3177	broad.mit.edu	37	11	66131787	66131788	+	Frame_Shift_Del	DEL	AG	-	-			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr11:66131787_66131788delAG	uc001oht.3	-	10	1396_1397	c.1167_1168delCT	c.(1165-1170)ctcttcfs	p.L389fs	SLC29A2_uc009yrf.3_Frame_Shift_Del_p.L269fs|SLC29A2_uc001ohu.3_Frame_Shift_Del_p.L389fs|SLC29A2_uc001ohv.3_Frame_Shift_Del_p.L345fs	NM_001532	NP_001523	Q14542	S29A2_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 2 (SLC29A2), mRNA.	389					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						TCCTGTGGGAAGAGGATGGGCA	0.634											OREG0021103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	---	24	---	---	7	---					
B4GALT6	9331	broad.mit.edu	37	18	29225354	29225355	+	Frame_Shift_Ins	INS	-	C	C			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr18:29225354_29225355insC	uc002kwz.4	-	3	731_732	c.434_435insG	c.(433-435)ggtfs	p.G145fs	B4GALT6_uc010dma.3_Frame_Shift_Ins_p.G106fs|B4GALT6_uc010dmb.3_Frame_Shift_Ins_p.G145fs	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 (B4GALT6), mRNA.	145					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			GCCTCCAATGACCCCCTGGCTC	0.376													---	98	---	---	11	---					
ADAM33	80332	broad.mit.edu	37	20	3662605	3662605	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:3662605delA	uc002wit.3	-	0	134	c.47delT	c.(46-48)ctgfs	p.L16fs	ADAM33_uc002wir.1_Frame_Shift_Del_p.L16fs|ADAM33_uc002wiu.3_Frame_Shift_Del_p.L16fs|ADAM33_uc002wiw.1_Non-coding_Transcript|ADAM33_uc010gba.1_Frame_Shift_Del_p.L16fs|ADAM33_uc010gbb.1_Frame_Shift_Del_p.L16fs|ADAM33_uc002wix.1_Frame_Shift_Del_p.L16fs|ADAM33_uc010zqg.1_Frame_Shift_Del_p.L16fs|ADAM33_uc010zqh.1_Frame_Shift_Del_p.L16fs|ADAM33_uc002wiy.3_Frame_Shift_Del_p.L16fs	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	16					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						cagtagtagcagcagcagcaA	0.716													---	4	---	---	2	---					
OTOR	56914	broad.mit.edu	37	20	16730592	16730593	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:16730592_16730593insA	uc002wpj.3	+	2	344_345	c.300_301insA	c.(298-303)ttccccfs	p.F100fs		NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN	Homo sapiens otoraplin (OTOR), mRNA.	100	SH3.				sensory perception of sound	extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						TGGGTTATTTCCCCAGGAACTT	0.490													---	10	---	---	6	---					
ZBP1	81030	broad.mit.edu	37	20	56186960	56186960	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:56186960delA	uc002xyo.3	-	5	978	c.697delT	c.(697-699)tcafs	p.S233fs	ZBP1_uc010gjm.3_Frame_Shift_Del_p.S232fs|ZBP1_uc002xyp.3_Frame_Shift_Del_p.S158fs	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	233						cytoplasm|nucleus	RNA binding|double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			GGTGCCATTGAAGGGAGGTGG	0.612													---	4	---	---	2	---					
ARFGAP1	55738	broad.mit.edu	37	20	61912694	61912695	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A181-06A-11D-A196-08	TCGA-EE-A181-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61e724b8-b8ad-47f6-88e8-ae5ef88e224e	e19f500b-da40-4273-997a-36fc00028417	g.chr20:61912694_61912695insA	uc002yem.3	+	7	791_792	c.679_680insA	c.(679-681)gagfs	p.E227fs	ARFGAP1_uc011aas.1_Frame_Shift_Ins_p.E174fs|ARFGAP1_uc011aat.1_Frame_Shift_Ins_p.E114fs|ARFGAP1_uc002yel.3_Frame_Shift_Ins_p.E227fs|ARFGAP1_uc002yen.3_Frame_Shift_Ins_p.E227fs	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 1 (ARFGAP1), transcript variant 1, mRNA.	227					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	Golgi-associated vesicle membrane|cytosol	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GGCAGCCAAGGAGGGCGTAAGT	0.658													---	7	---	---	4	---					
