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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MYH7	4625	broad.mit.edu	37	14	23902781	23902781	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:23902781C>T	ENST00000355349.3	-	3	323	c.161G>A	c.(160-162)cGa>cAa	p.R54Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	54	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	actin binding|actin-dependent ATPase activity|ATP binding|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)		GCCACCCTCTCGAGACACGAT	0.562000													18	95					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070016	9070016	+	Silent	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:9070016A>G	ENST00000397910.4	-	3	17633	c.17430T>C	c.(17428-17430)acT>acC	p.T5810T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5812	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						CCTCAGTAGTAGTAGTAGTGG	0.483000													7	120					0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203383585	203383585	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:203383585C>T	ENST00000374580.4	+	6	1201	c.662C>T	c.(661-663)tCc>tTc	p.S221F	BMPR2_ENST00000374574.2_Missense_Mutation_p.S221F	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	221	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TATAAAGGCTCCTTGGATGAG	0.373000													5	75					0	0	1	0	0
FOXJ1	2302	broad.mit.edu	37	17	74134115	74134115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:74134115C>T	ENST00000322957.6	-	3	939	c.585G>A	c.(583-585)tgG>tgA	p.W195*		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	195					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific 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			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GGTCAATGCGCCAGAAGCCCC	0.622000													4	29					0	0	1	0	0
HID1	283987	broad.mit.edu	37	17	72956160	72956160	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:72956160C>T	ENST00000425042.2	-	7	989	c.912G>A	c.(910-912)gtG>gtA	p.V304V		NM_030630.2	NP_085133.1			HID1 domain containing																		TGGTGCCGTCCACAGTGGGGC	0.637000													9	72					0	0	1	0	0
NEURL4	84461	broad.mit.edu	37	17	7230054	7230054	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:7230054G>A	ENST00000399464.2	-	4	1083	c.1068C>T	c.(1066-1068)ccC>ccT	p.P356P	NEURL4_ENST00000570460.1_Silent_p.P334P|NEURL4_ENST00000315614.7_Silent_p.P356P	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGTCCCGAAGGGGGCGATTGG	0.542000													4	49					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79173673	79173673	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:79173673G>A	ENST00000264895.6	+	5	877	c.437G>A	c.(436-438)gGa>gAa	p.G146E	FRAS1_ENST00000264899.6_Missense_Mutation_p.G146E|FRAS1_ENST00000325942.6_Missense_Mutation_p.G146E	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	146	VWFC 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATCCCTGAAGGAAGCTGCTGC	0.562000													4	56					0	0	1	0	0
SLC26A3	1811	broad.mit.edu	37	7	107434247	107434247	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:107434247C>T	ENST00000340010.5	-	3	395	c.211G>A	c.(211-213)Gaa>Aaa	p.E71K	SLC26A3_ENST00000422236.2_Missense_Mutation_p.E36K	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	71					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						AGCAACCATTCTTTAAGCCGG	0.388000													5	78					0	0	1	0	0
SPHKAP	80309	broad.mit.edu	37	2	228881311	228881311	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:228881311G>A	ENST00000392056.3	-	7	4305	c.4259C>T	c.(4258-4260)tCa>tTa	p.S1420L	SPHKAP_ENST00000344657.5_Missense_Mutation_p.S1420L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1420						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)		CGAGCAAAGTGATCGCCTTTT	0.458000													17	150					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196791163	196791163	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:196791163G>A	ENST00000312428.6	-	22	3699	c.3599C>T	c.(3598-3600)cCa>cTa	p.P1200L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1200	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						TATCCCCATTGGAATAGCTGT	0.328000													8	57					0	0	1	0	0
AIFM3	150209	broad.mit.edu	37	22	21334404	21334404	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:21334404G>A	ENST00000399167.2	+	19	1988	c.1748G>A	c.(1747-1749)cGg>cAg	p.R583Q	AIFM3_ENST00000405089.1_Missense_Mutation_p.R589Q|AIFM3_ENST00000399163.2_Missense_Mutation_p.R583Q|AIFM3_ENST00000335375.5_Missense_Mutation_p.R571Q|AIFM3_ENST00000333607.6_Missense_Mutation_p.R583Q|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000440238.2_Missense_Mutation_p.R583Q|LZTR1_ENST00000479606.1_3'UTR	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ATCCGGAAGCGGGAGGTGGAG	0.632000													3	23					0	0	1	0	0
OXGR1	27199	broad.mit.edu	37	13	97639743	97639743	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr13:97639743G>A	ENST00000298440.1	-	4	514	c.271C>T	c.(271-273)Cac>Tac	p.H91Y	OXGR1_ENST00000543457.1_Missense_Mutation_p.H91Y	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	91						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			GCATAGTAGTGAATCAGGAAG	0.453000													6	54					0	0	1	0	0
WISP1	8840	broad.mit.edu	37	8	134237664	134237664	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:134237664G>A	ENST00000250160.6	+	4	748	c.642G>A	c.(640-642)agG>agA	p.R214R	WISP1_ENST00000377863.2_Silent_p.R42R|WISP1_ENST00000517423.1_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Silent_p.R127R	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	214					cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CATGGCACAGGAACTGCATAG	0.597000													20	124					0	0	1	0	0
IL1B	3553	broad.mit.edu	37	2	113587992	113587992	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:113587992C>T	ENST00000263341.2	-	7	966	c.756G>A	c.(754-756)ggG>ggA	p.G252G	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	252					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 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|negative regulation of MAP kinase activity|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 NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|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)	CGCCTTTGGTCCCTCCCAGGA	0.483000													23	114					0	0	1	0	0
COL4A3	1285	broad.mit.edu	37	2	228148965	228148965	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:228148965A>G	ENST00000396578.3	+	34	2947	c.2785A>G	c.(2785-2787)Acc>Gcc	p.T929A	AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA|AC097662.2_ENST00000439598.2_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	929	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CCAGAGAGGAACCCCAGGAGC	0.483000													10	45					0	0	1	0	0
SH3GL3	6457	broad.mit.edu	37	15	84257427	84257427	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:84257427T>A	ENST00000324537.5	+	11	1258	c.766T>A	c.(766-768)Tcc>Acc	p.S256T	SH3GL3_ENST00000427482.2_Missense_Mutation_p.S248T|SH3GL3_ENST00000434347.1_Missense_Mutation_p.S256T|SH3GL3_ENST00000535412.1_Missense_Mutation_p.S248T			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	248					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						ATCAGCTGCATCCAGTGTCCC	0.468000													5	39					0	0	1	0	0
NCAPD3	23310	broad.mit.edu	37	11	134076558	134076558	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:134076558G>A	ENST00000534548.2	-	8	1016	c.952C>T	c.(952-954)Cgt>Tgt	p.R318C		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	318					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGGGGGGCACGATGGGATCCT	0.413000													9	93					0	0	1	0	0
ENPP3	5169	broad.mit.edu	37	6	132004286	132004286	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:132004286C>T	ENST00000414305.1	+	13	1432	c.1104C>T	c.(1102-1104)atC>atT	p.I368I	ENPP3_ENST00000358229.5_Silent_p.I368I|ENPP3_ENST00000357639.3_Silent_p.I368I			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	368	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)		TCAATATCATCCTTCTGGCTG	0.333000													8	95					0	0	1	0	0
CYP2B6	1555	broad.mit.edu	37	19	41509883	41509883	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:41509883C>T	ENST00000330446.5	+	1	33	c.29C>T	c.(28-30)cCc>cTc	p.P10L	CYP2B6_ENST00000324071.4_Intron|CYP2B6_ENST00000598834.1_Intron|CYP2B6_ENST00000593831.1_5'UTR			P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	0					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	aacAGCCACCCCTGGTGTGGA	0.522000													12	57					0	0	1	0	0
WDFY3	23001	broad.mit.edu	37	4	85672726	85672726	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:85672726G>A	ENST00000322366.6	-	36	6290	c.5883C>T	c.(5881-5883)ttC>ttT	p.F1961F	WDFY3_ENST00000295888.4_Silent_p.F1961F			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1961						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGTCAAAAACGAACTTTTTAG	0.443000													12	104					0	0	1	0	0
EIF2AK4	440275	broad.mit.edu	37	15	40293386	40293386	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:40293386C>T	ENST00000263791.5	+	21	3163	c.3120C>T	c.(3118-3120)tcC>tcT	p.S1040S	EIF2AK4_ENST00000382727.2_Silent_p.S1012S	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	1040	Histidyl-tRNA synthetase-like.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGCGCATCTCCCCTGCCATCG	0.557000													10	60					0	0	1	0	0
MOV10L1	54456	broad.mit.edu	37	22	50563934	50563934	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:50563934G>A	ENST00000262794.5	+	11	1766	c.1683G>A	c.(1681-1683)agG>agA	p.R561R	MOV10L1_ENST00000545383.1_Silent_p.R561R|MOV10L1_ENST00000395858.3_Silent_p.R561R|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000540615.1_Silent_p.R541R	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	561					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TCTTAAGAAGGAATGGGGATC	0.478000													6	83					0	0	1	0	0
ZCCHC8	55596	broad.mit.edu	37	12	122983377	122983377	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:122983377G>A	ENST00000336229.4	-	2	369	c.239C>T	c.(238-240)cCg>cTg	p.P80L	ZCCHC8_ENST00000543897.1_5'UTR|ZCCHC8_ENST00000536306.1_5'UTR	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	80						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		CTCATACCTCGGTCGAGTCAG	0.284000													3	18					0	0	1	0	0
OR1E2	8388	broad.mit.edu	37	17	3336752	3336752	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:3336752G>A	ENST00000248384.1	-	1	383	c.384C>T	c.(382-384)ttC>ttT	p.F128F		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	128					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						AGTGCATGGGGAAGCAGATGG	0.557000													7	45					0	0	1	0	0
NUCB2	4925	broad.mit.edu	37	11	17316991	17316991	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:17316991G>A	ENST00000529010.1	+	3	340	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K	NUCB2_ENST00000323688.6_Missense_Mutation_p.E41K|NUCB2_ENST00000458064.2_Missense_Mutation_p.E41K	NM_005013.2	NP_005004.1	P80303	NUCB2_HUMAN	nucleobindin 2	41						cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TCACCCTGTGGAAAGTGCGAA	0.343000													10	160					0	0	1	0	0
NCAM1	4684	broad.mit.edu	37	11	113140986	113140986	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:113140986G>A	ENST00000316851.7	+	16	2178	c.2178G>A	c.(2176-2178)ctG>ctA	p.L726L	NCAM1_ENST00000397957.4_3'UTR|NCAM1-AS1_ENST00000533638.1_RNA|NCAM1-AS1_ENST00000526229.1_RNA	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	736					axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				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)		TCCTGCTCCTGGTGGTTGTGG	0.612000													18	173					0	0	1	0	0
HSDL2	84263	broad.mit.edu	37	9	115200801	115200801	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:115200801C>T	ENST00000398805.3	+	7	916	c.689C>T	c.(688-690)tCc>tTc	p.S230F	HSDL2_ENST00000262542.7_Missense_Mutation_p.S110F|HSDL2_ENST00000539114.1_Missense_Mutation_p.S25F|HSDL2_ENST00000398803.1_Missense_Mutation_p.S157F|HSDL2_ENST00000488101.1_3'UTR	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	230						peroxisome	oxidoreductase activity|sterol binding			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						GCAGCATATTCCATTTTCCAA	0.358000													4	47					0	0	1	0	0
TGFB2	7042	broad.mit.edu	37	1	218607692	218607692	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:218607692G>A	ENST00000366929.4	+	5	1207	c.740G>A	c.(739-741)gGa>gAa	p.G247E	TGFB2_ENST00000366930.4_Missense_Mutation_p.G219E|TGFB2_ENST00000479322.1_3'UTR	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	219					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		AGGAACCTGGGATTTAAAATA	0.358000													10	62					0	0	1	0	0
NDC1	55706	broad.mit.edu	37	1	54272139	54272139	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:54272139G>A	ENST00000371429.3	-	9	1541	c.943C>T	c.(943-945)Ctt>Ttt	p.L315F	NDC1_ENST00000540001.1_Missense_Mutation_p.L315F|NDC1_ENST00000234725.8_Missense_Mutation_p.L200F|NDC1_ENST00000537333.1_5'UTR	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		ACTTTTGGAAGGCACTCATCT	0.348000													5	51					0	0	1	0	0
CRADD	8738	broad.mit.edu	37	12	94072788	94072788	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:94072788C>T	ENST00000542893.2	+	2	556	c.238C>T	c.(238-240)Ccc>Tcc	p.P80S	CRADD_ENST00000332896.3_Missense_Mutation_p.P80S|CRADD_ENST00000552033.1_Missense_Mutation_p.P80S|CRADD_ENST00000541813.1_Missense_Mutation_p.P80S|CRADD_ENST00000548483.1_Missense_Mutation_p.P80S|CRADD_ENST00000552983.1_Missense_Mutation_p.P80S			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	80	CARD.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						ACAGGAGTTTCCCTGGGTCAG	0.517000													6	91					0	0	1	0	0
PTCHD2	57540	broad.mit.edu	37	1	11596589	11596589	+	Missense_Mutation	SNP	G	G	A	rs141052083		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:11596589G>A	ENST00000294484.6	+	21	4163	c.4025G>A	c.(4024-4026)gGc>gAc	p.G1342D	PTCHD2_ENST00000304391.6_Silent_p.G228G|PTCHD2_ENST00000389575.3_Missense_Mutation_p.G1342D	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	1342					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	p.G1559D(1)		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)		GCCCTGCTGGGCATCATGGCG	0.642000													8	56					0	0	1	0	0
ACAD8	27034	broad.mit.edu	37	11	134131179	134131179	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:134131179C>T	ENST00000281182.4	+	8	958	c.852C>T	c.(850-852)tcC>tcT	p.S284S	ACAD8_ENST00000524547.1_3'UTR|ACAD8_ENST00000374752.4_Silent_p.S157S|ACAD8_ENST00000543332.1_Silent_p.S186S|ACAD8_ENST00000537423.1_Silent_p.S207S	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	284					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		CTTCCTGCTCCCTGGGGGCTG	0.617000													6	59					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41424032	41424032	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr21:41424032C>T	ENST00000400454.1	-	30	5515	c.5038G>A	c.(5038-5040)Gat>Aat	p.D1680N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1680					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)				GTGGAGCGATCATCTACAGGA	0.502000													10	86					0	0	1	0	0
MSH2	4436	broad.mit.edu	37	2	47637472	47637472	+	Silent	SNP	C	C	A	rs63750600		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:47637472C>A	ENST00000406134.1	+	3	668	c.606C>A	c.(604-606)ccC>ccA	p.P202P	MSH2_ENST00000543555.1_Silent_p.P136P|MSH2_ENST00000233146.2_Silent_p.P202P			P43246	MSH2_HUMAN	mutS homolog 2	202					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(1)|p.P202P(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTGTTTTACCCGGAGGAGAGA	0.453000			"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian"""	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				11	126					6.40141e-05	6.47662e-05	1	1	0
TOX	9760	broad.mit.edu	37	8	59728227	59728227	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:59728227C>T	ENST00000361421.1	-	7	1282	c.1062G>A	c.(1060-1062)tcG>tcA	p.S354S		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	354						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CCGACGGCTTCGAATTGATCA	0.517000													6	83					0	0	1	0	0
MTMR11	10903	broad.mit.edu	37	1	149906415	149906415	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:149906415G>A	ENST00000439741.2	-	6	723	c.473C>T	c.(472-474)aCc>aTc	p.T158I	MTMR11_ENST00000406732.3_Missense_Mutation_p.T130I|MTMR11_ENST00000369140.3_Missense_Mutation_p.T86I|MTMR11_ENST00000361405.6_Missense_Mutation_p.T158I|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	158							phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AATGGCCATGGTCACCTGCAG	0.502000													21	51					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	31799581	31799581	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:31799581G>A	ENST00000438447.1	+	2	614	c.226G>A	c.(226-228)Gag>Aag	p.E76K	PDZD2_ENST00000282493.3_Missense_Mutation_p.E76K			O15018	PDZD2_HUMAN	PDZ domain containing 2	76					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				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						CCTCACCAAGGAGCTGGGGGA	0.552000													34	173					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185800578	185800578	+	Missense_Mutation	SNP	C	C	T	rs147922206		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:185800578C>T	ENST00000302277.6	+	4	1049	c.455C>T	c.(454-456)tCc>tTc	p.S152F		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	152						intracellular	zinc ion binding	p.S152F(1)|p.S152Y(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						AATGAAATTTCCCAACGAGTT	0.368000													4	57					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	70880953	70880953	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:70880953G>A	ENST00000333538.5	+	4	1302	c.668G>A	c.(667-669)aGg>aAg	p.R223K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	223	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				AATCAGAAGAGGGAAGGCCTG	0.562000													6	78					0	0	1	0	0
CC2D2B	387707	broad.mit.edu	37	10	97791583	97791583	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:97791583G>A	ENST00000344386.3	+	9	951	c.787G>A	c.(787-789)Gga>Aga	p.G263R	ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CC2D2B_ENST00000410012.2_Missense_Mutation_p.G342R|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000449197.1_RNA|RP11-690P14.4_ENST00000475252.2_3'UTR|CC2D2B_ENST00000371198.2_3'UTR|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	263										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		CCAGGTCACGGGATTTCCCAT	0.393000													19	231					0	0	1	0	0
TTC6	319089	broad.mit.edu	37	14	38281585	38281585	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:38281585C>T	ENST00000553443.1	+	25	4636	c.4636C>T	c.(4636-4638)Ctt>Ttt	p.L1546F	TTC6_ENST00000382320.3_Missense_Mutation_p.L260F|TTC6_ENST00000267368.7_Missense_Mutation_p.L180F|TTC6_ENST00000476979.1_Missense_Mutation_p.L180F					tetratricopeptide repeat domain 6											central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	14	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;1.59e-06)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0543)|all cancers(34;0.108)|BRCA - Breast invasive adenocarcinoma(188;0.156)|LUSC - Lung squamous cell carcinoma(13;0.176)	GBM - Glioblastoma multiforme(112;0.00551)		AAATACCTTCCTTAATCGTGG	0.373000													7	86					0	0	1	0	0
OR2M5	127059	broad.mit.edu	37	1	248308504	248308504	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:248308504A>G	ENST00000366476.1	+	1	55	c.55A>G	c.(55-57)Aat>Gat	p.N19D		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	19					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)			GGGAATCTTCAATCACAGCCC	0.453000													16	399					0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41414346	41414346	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr21:41414346C>T	ENST00000400454.1	-	32	6115	c.5638G>A	c.(5638-5640)Gat>Aat	p.D1880N		NM_001389.3	NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1880					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)				CTTCCTCCATCCTGAGGTTTG	0.567000													11	94					0	0	1	0	0
PRRG3	79057	broad.mit.edu	37	X	150868507	150868507	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:150868507G>A	ENST00000370353.3	+	3	437	c.47G>A	c.(46-48)cGa>cAa	p.R16Q	PRRG3_ENST00000538575.1_Missense_Mutation_p.R16Q|PRRG3_ENST00000370354.1_Missense_Mutation_p.R24Q			Q9BZD7	TMG3_HUMAN	proline rich Gla (G-carboxyglutamic acid) 3 (transmembrane)	16						extracellular region|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(3)|prostate(2)|skin(3)	24	Acute lymphoblastic leukemia(192;6.56e-05)					GTCCTGAAACGATTCCCTCGT	0.587000													6	31					0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	44913862	44913862	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:44913862C>T	ENST00000429094.2	-	19	2830	c.2326G>A	c.(2326-2328)Gaa>Aaa	p.E776K	NELL2_ENST00000437801.2_Missense_Mutation_p.E826K|NELL2_ENST00000452445.2_Missense_Mutation_p.E776K|NELL2_ENST00000549027.1_Missense_Mutation_p.E775K|NELL2_ENST00000551601.1_Missense_Mutation_p.E728K|NELL2_ENST00000395487.2_Missense_Mutation_p.E775K|NELL2_ENST00000333837.4_Missense_Mutation_p.E799K	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	776	VWFC 5.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		ACATTCATTTCGTCCAGGCAA	0.498000													8	68					0	0	1	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809632	18809632	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:18809632C>T	ENST00000400664.1	+	1	2209	c.2157C>T	c.(2155-2157)gcC>gcT	p.A719A		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	719						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCAGTGCGCCGTGGTGGACA	0.652000													10	71					0	0	1	0	0
ANKS3	124401	broad.mit.edu	37	16	4749108	4749108	+	Missense_Mutation	SNP	C	C	T	rs113252244		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:4749108C>T	ENST00000304283.4	-	12	1648	c.1354G>A	c.(1354-1356)Gac>Aac	p.D452N	ANKS3_ENST00000446014.2_Missense_Mutation_p.D323N|ANKS3_ENST00000585773.1_Missense_Mutation_p.D379N	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	452	SAM.									endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						ATGCGGAGGTCCACGTCCTGC	0.632000													11	59					0	0	1	0	0
UROC1	131669	broad.mit.edu	37	3	126207041	126207041	+	Splice_Site	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:126207041C>T	ENST00000290868.2	-	18	1843	c.1790_splice	c.e18+1	p.W597_splice	UROC1_ENST00000383579.3_Splice_Site_p.W657_splice	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	597					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		ACCTTCTTACCAGCCCACGCC	0.612000													19	172					0	0	1	0	0
PRPF3	9129	broad.mit.edu	37	1	150325390	150325390	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:150325390A>G	ENST00000324862.6	+	16	2152	c.1987A>G	c.(1987-1989)Aag>Gag	p.K663E	PRPF3_ENST00000467329.1_3'UTR|PRPF3_ENST00000414970.2_Missense_Mutation_p.K614E	NM_004698.2	NP_004689.1	O43395	PRPF3_HUMAN	pre-mRNA processing factor 3	663					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		GCATTTCAAAAAGCATGGGGC	0.473000													31	138					0	0	1	0	0
STAM2	10254	broad.mit.edu	37	2	152989930	152989930	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:152989930C>T	ENST00000263904.4	-	9	1217	c.868G>A	c.(868-870)Gtt>Att	p.V290I		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	290					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TCTATATAAACAGGCTCAGGC	0.333000													10	75					0	0	1	0	0
FAM65C	140876	broad.mit.edu	37	20	49225893	49225893	+	Splice_Site	SNP	C	C	T	rs148332840		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:49225893C>T	ENST00000327979.2	-	8	976	c.564_splice	c.e8-1	p.D189_splice	FAM65C_ENST00000535356.1_Splice_Site_p.D193_splice|FAM65C_ENST00000045083.2_Splice_Site_p.D189_splice			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	189										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCCACATGTCCTGCAAAGCC	0.642000													3	31					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151085946	151085946	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:151085946G>A	ENST00000474524.1	+	23	3390	c.3352G>A	c.(3352-3354)Gat>Aat	p.D1118N	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.D978N	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1118					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		p.D1118Y(1)		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)			AGCTTGTGGGGATGCGGACGC	0.502000													6	37					0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	76995231	76995231	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:76995231G>A	ENST00000538941.2	-	19	2561	c.1622C>T	c.(1621-1623)cCt>cTt	p.P541L	SCAPER_ENST00000324767.7_Missense_Mutation_p.P787L|SCAPER_ENST00000563290.1_Missense_Mutation_p.P787L	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	786	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						TCTTTCATAAGGGGTCAGTTT	0.383000													27	111					0	0	1	0	0
TRAV3	28690	broad.mit.edu	37	14	22192302	22192302	+	RNA	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:22192302C>T	ENST00000390425.2	+	0	253																											GTGGCTCAGCCGGAAGATCAG	0.468000													32	141					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130761731	130761731	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:130761731C>T	ENST00000276708.4	-	13	2135	c.1254G>A	c.(1252-1254)atG>atA	p.M418I		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	418						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						TCCTCTTCTCCATGGAACAGG	0.522000													7	69					0	0	1	0	0
ASTN2	23245	broad.mit.edu	37	9	119625875	119625875	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:119625875G>A	ENST00000313400.4	-	11	2127	c.2027C>T	c.(2026-2028)tCc>tTc	p.S676F	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.S625F|ASTN2_ENST00000373996.3_Missense_Mutation_p.S672F			O75129	ASTN2_HUMAN	astrotactin 2	676	EGF-like 2.					integral to membrane		p.S625Y(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						ACATCCCGAGGAATCCACCTG	0.607000													9	77					0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1127626	1127626	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:1127626G>A	ENST00000361757.3	-	5	655	c.418C>T	c.(418-420)Cct>Tct	p.P140S	SBNO2_ENST00000438103.2_Missense_Mutation_p.P83S|SBNO2_ENST00000587024.1_Missense_Mutation_p.P140S	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	140					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)		GAGGGGGCAGGGTTATCGTCC	0.682000													6	62					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96480225	96480225	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:96480225G>T	ENST00000285979.6	+	6	1091	c.892G>T	c.(892-894)Gga>Tga	p.G298*	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Nonsense_Mutation_p.G239*	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		GTTTGGGGCTGGAACAGAGAC	0.408000													5	74					0.000602214	0.00060761	1	1	0
DMXL2	23312	broad.mit.edu	37	15	51780227	51780227	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:51780227G>A	ENST00000251076.5	-	22	5428	c.5141C>T	c.(5140-5142)tCc>tTc	p.S1714F	DMXL2_ENST00000449909.3_Missense_Mutation_p.S1078F|DMXL2_ENST00000543779.2_Missense_Mutation_p.S1714F|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1714						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCCAAGTAAGGAAAAAGCATT	0.373000													28	184					0	0	1	0	0
NBPF3	84224	broad.mit.edu	37	1	21804631	21804631	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:21804631C>T	ENST00000342104.5	+	9	1386	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	NBPF3_ENST00000454000.2_Intron|NBPF3_ENST00000318249.5_Intron|NBPF3_ENST00000318220.6_Intron	NM_001256416.1	NP_001243345.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	330	NBPF 2.					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)		CTGCCTGGCTCATCAGGAATC	0.498000													11	203					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179444336	179444336	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179444336C>T	ENST00000589042.1	-	319	67812	c.67588G>A	c.(67588-67590)Gga>Aga	p.G22530R	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G13590R|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G13657R|TTN_ENST00000342992.6_Missense_Mutation_p.G19962R|TTN_ENST00000460472.2_Missense_Mutation_p.G13465R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G20889R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20889	Fibronectin type-III 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)			GTTCCTTCTCCATTTTCATTC	0.423000													30	153					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42796863	42796863	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:42796863C>T	ENST00000572681.2	+	15	6113	c.6045C>T	c.(6043-6045)ccC>ccT	p.P2015P	CIC_ENST00000575354.2_Silent_p.P1107P|CIC_ENST00000160740.3_Silent_p.P1106P			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1107					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)				CCTCAGCACCCCTGGCCCAGC	0.677000			"""Mis, F, S"""		oligodendroglioma								6	87					0	0	1	0	0
IL2RB	3560	broad.mit.edu	37	22	37539645	37539645	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:37539645G>T	ENST00000216223.5	-	3	317	c.119C>A	c.(118-120)tCg>tAg	p.S40*		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	40					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)	GTTGGCTCTCGAGTTGTAGAA	0.607000													7	97					0.0293803	0.0294205	1	1	0
MAGEA4	4103	broad.mit.edu	37	X	151092802	151092802	+	Silent	SNP	C	C	T	rs143502348		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:151092802C>T	ENST00000370335.1	+	3	933	c.666C>T	c.(664-666)atC>atT	p.I222I	MAGEA4_ENST00000370337.4_Silent_p.I222I|MAGEA4_ENST00000393920.1_Silent_p.I222I|MAGEA4_ENST00000393921.1_Silent_p.I222I|MAGEA4_ENST00000360243.2_Silent_p.I222I|MAGEA4_ENST00000276344.2_Silent_p.I222I|MAGEA4_ENST00000370340.3_Silent_p.I222I			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	222	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAGGAAATCTGGGAGGAGC	0.547000													19	81					0	0	1	0	0
CCDC13	152206	broad.mit.edu	37	3	42750511	42750511	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:42750511G>A	ENST00000310232.6	-	16	2192	c.2109C>T	c.(2107-2109)ttC>ttT	p.F703F		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	703										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GGGCCTGCAGGAAGACACTTT	0.587000													8	122					0	0	1	0	0
ARRB1	408	broad.mit.edu	37	11	74985242	74985242	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:74985242G>A	ENST00000420843.2	-	11	887	c.790C>T	c.(790-792)Ccc>Tcc	p.P264S	ARRB1_ENST00000360025.3_Missense_Mutation_p.P264S|ARRB1_ENST00000393505.4_Missense_Mutation_p.P264S	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	264					G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GTCGAGCTGGGTGCCACAGTG	0.587000													11	201					0	0	1	0	0
NCLN	56926	broad.mit.edu	37	19	3205976	3205976	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:3205976G>A	ENST00000246117.4	+	10	1679	c.1248G>A	c.(1246-1248)agG>agA	p.R416R	NCLN_ENST00000590671.1_Silent_p.R342R	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	416					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GTAACACGAGGATCATTGCAG	0.562000													8	147					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9064480	9064480	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:9064480C>T	ENST00000397910.4	-	3	23169	c.22966G>A	c.(22966-22968)Gga>Aga	p.G7656R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7658	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						TGTGGAAATCCCTGAATTACT	0.507000													13	51					0	0	1	0	0
LATS1	9113	broad.mit.edu	37	6	150004748	150004748	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:150004748G>A	ENST00000543571.1	-	4	2024	c.1477C>T	c.(1477-1479)Cct>Tct	p.P493S	LATS1_ENST00000253339.5_Missense_Mutation_p.P493S|LATS1_ENST00000392273.3_Missense_Mutation_p.P493S|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	493					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TGTTGAATAGGAGCTGGTGTA	0.418000													12	195					0	0	1	0	0
ZNF611	81856	broad.mit.edu	37	19	53209718	53209718	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:53209718G>A	ENST00000543227.1	-	6	864	c.590C>T	c.(589-591)tCc>tTc	p.S197F	ZNF611_ENST00000540744.1_Missense_Mutation_p.S197F|ZNF611_ENST00000319783.1_Missense_Mutation_p.S197F|ZNF611_ENST00000453741.2_Missense_Mutation_p.S128F|ZNF611_ENST00000602162.1_Missense_Mutation_p.S128F|ZNF611_ENST00000595798.1_Missense_Mutation_p.S128F	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	197					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)		GGGCCTACAGGAAATTCTTTG	0.383000													12	229					0	0	1	0	0
ACOX2	8309	broad.mit.edu	37	3	58520702	58520702	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:58520702G>A	ENST00000302819.5	-	2	423	c.132C>T	c.(130-132)gcC>gcT	p.A44A	ACOX2_ENST00000459701.2_Silent_p.A44A	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	44					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CAGTGTTCTGGGCACCTCCAT	0.517000													28	272					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50724786	50724786	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:50724786C>T	ENST00000404971.1	-	15	4023	c.2684G>A	c.(2683-2685)cGa>cAa	p.R895Q	NRXN1_ENST00000401669.2_Missense_Mutation_p.R855Q|NRXN1_ENST00000406859.3_Missense_Mutation_p.R855Q|NRXN1_ENST00000406316.2_Missense_Mutation_p.R855Q|NRXN1_ENST00000405472.3_Missense_Mutation_p.R847Q|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.R847Q	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	855					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)			AAGATACCGTCGTTCTGTGAT	0.403000													8	63					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101344500	101344500	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:101344500C>T	ENST00000344327.3	-	7	2173	c.1749G>A	c.(1747-1749)agG>agA	p.R583R	TRPC6_ENST00000348423.4_Silent_p.R467R|TRPC6_ENST00000360497.4_Silent_p.R528R|TRPC6_ENST00000532133.1_Silent_p.R505R	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	583					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCCACTTTATCCTGGCTAGGA	0.333000													10	65					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53844128	53844128	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:53844128C>T	ENST00000288139.3	+	48	6173	c.6055C>T	c.(6055-6057)Ccc>Tcc	p.P2019S	CACNA1D_ENST00000350061.5_Missense_Mutation_p.P1999S|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1975S|CACNA1D_ENST00000544977.1_3'UTR	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1999					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GTGCTACACCCCCCTGATCCA	0.637000													11	81					0	0	1	0	0
TLL1	7092	broad.mit.edu	37	4	166924569	166924569	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:166924569G>A	ENST00000061240.2	+	6	1306	c.659G>A	c.(658-660)gGa>gAa	p.G220E	TLL1_ENST00000507499.1_Missense_Mutation_p.G220E|TLL1_ENST00000513213.1_Missense_Mutation_p.G220E	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	220	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GGTCGGCGAGGAAATGGACCT	0.438000													7	84					0	0	1	0	0
SPAG17	200162	broad.mit.edu	37	1	118539274	118539274	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:118539274G>A	ENST00000336338.5	-	33	4934	c.4869C>T	c.(4867-4869)tcC>tcT	p.S1623S		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1623						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)		GGTGCATAGAGGACAGACTAT	0.343000													8	54					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70890237	70890237	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:70890237C>T	ENST00000322773.4	+	43	2803	c.2701C>T	c.(2701-2703)Cca>Tca	p.P901S	COL19A1_ENST00000393344.1_Missense_Mutation_p.P523S	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	901	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						TCCAGGAGTTCCAGGGGAACC	0.453000													9	64					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54074957	54074957	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:54074957G>A	ENST00000253144.9	+	6	1442	c.109G>A	c.(109-111)Gag>Aag	p.E37K	ZNF331_ENST00000513999.1_Missense_Mutation_p.E37K|ZNF331_ENST00000511154.1_Missense_Mutation_p.E37K|ZNF331_ENST00000513265.1_Missense_Mutation_p.E37K|ZNF331_ENST00000512387.1_Missense_Mutation_p.E37K|ZNF331_ENST00000511593.2_Missense_Mutation_p.E37K|ZNF331_ENST00000449416.1_Missense_Mutation_p.E37K|ZNF331_ENST00000411977.2_Missense_Mutation_p.E37K	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	37	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)		CGTGATGCTGGAGAACTACAG	0.542000			T	?	follicular thyroid adenoma								10	235					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641147	179641147	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179641147C>T	ENST00000589042.1	-	28	5668	c.5444G>A	c.(5443-5445)aGa>aAa	p.R1815K	TTN_ENST00000359218.5_Missense_Mutation_p.R1769K|TTN_ENST00000342175.6_Missense_Mutation_p.R1769K|TTN_ENST00000342992.6_Missense_Mutation_p.R1815K|TTN_ENST00000460472.2_Missense_Mutation_p.R1769K|TTN_ENST00000360870.5_Missense_Mutation_p.R1815K|TTN_ENST00000591111.1_Missense_Mutation_p.R1815K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1547							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)			TTCTTCAATTCTCTGTAAGCC	0.408000													22	174					0	0	1	0	0
TRBV11-1	28582	broad.mit.edu	37	7	142223941	142223941	+	RNA	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:142223941C>T	ENST00000390367.3	-	0	242																											AACTGTGAATCATCTACTACA	0.512000													8	99					0	0	1	0	0
SCN3A	6328	broad.mit.edu	37	2	166020945	166020945	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:166020945G>A	ENST00000360093.3	-	6	1050	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	SCN3A_ENST00000409101.3_Missense_Mutation_p.R187C|SCN3A_ENST00000283254.7_Missense_Mutation_p.R187C	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	187						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)	CATGGATCACGAAGAAACGTA	0.373000													4	60					0	0	1	0	0
ST18	9705	broad.mit.edu	37	8	53092782	53092782	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:53092782C>T	ENST00000276480.7	-	9	860	c.177G>A	c.(175-177)atG>atA	p.M59I		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	59						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)				GTCGGGGCTTCATTAGCAGGG	0.512000													23	171					0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76924904	76924904	+	Splice_Site	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:76924904G>A	ENST00000409709.3	+	48	6710		c.e48-1		MYO7A_ENST00000409619.2_Splice_Site|MYO7A_ENST00000605744.1_Splice_Site|MYO7A_ENST00000458637.2_Splice_Site	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA						actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGCTCCCCCAGGATATCCTCA	0.602000													12	96					0	0	1	0	0
OR51A4	401666	broad.mit.edu	37	11	4967879	4967879	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:4967879G>A	ENST00000380373.2	-	1	477	c.452C>T	c.(451-453)tCc>tTc	p.S151F	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	151					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)		GCTCTTAAAGGAGAATACTAT	0.423000													18	320					0	0	1	0	0
ZNF728	388523	broad.mit.edu	37	19	23159540	23159540	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:23159540G>A	ENST00000594710.1	-	4	744	c.599C>T	c.(598-600)tCc>tTc	p.S200F		NM_001267716.1	NP_001254645.1			zinc finger protein 728																		ACTTTTGTAGGAATTCTCTCT	0.348000													8	32					0	0	1	0	0
SRRM2	23524	broad.mit.edu	37	16	2814101	2814101	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:2814101C>T	ENST00000301740.8	+	11	4121	c.3572C>T	c.(3571-3573)cCa>cTa	p.P1191L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1191	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGTCCCTTTCCAGTACAGGAT	0.468000													27	172					0	0	1	0	0
NUP210	23225	broad.mit.edu	37	3	13381495	13381495	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:13381495G>A	ENST00000254508.5	-	25	3412	c.3330C>T	c.(3328-3330)atC>atT	p.I1110I	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1110					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)					TGGAGAAAAGGATGTTGGACT	0.662000													26	157					0	0	1	0	0
CNGB3	54714	broad.mit.edu	37	8	87588164	87588164	+	Silent	SNP	T	T	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:87588164T>C	ENST00000320005.5	-	18	2345	c.2298A>G	c.(2296-2298)gaA>gaG	p.E766E		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	766					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						CTGAGTGGGGTTCTTCCTCCA	0.458000													14	153					0	0	1	0	0
C16orf46	123775	broad.mit.edu	37	16	81095361	81095361	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:81095361G>A	ENST00000378611.4	-	3	708	c.593C>T	c.(592-594)tCc>tTc	p.S198F	C16orf46_ENST00000444657.3_5'UTR|C16orf46_ENST00000299578.5_Missense_Mutation_p.S198F|RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	198										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						GCCTGGGATGGACAGCCCTCT	0.552000													21	174					0	0	1	0	0
KIR3DL1	3811	broad.mit.edu	37	19	55331425	55331425	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:55331425C>T	ENST00000391728.4	+	4	646	c.613C>T	c.(613-615)Cag>Tag	p.Q205*	KIR3DL1_ENST00000538269.1_Nonsense_Mutation_p.Q205*|KIR3DL1_ENST00000326542.7_Nonsense_Mutation_p.Q205*|KIR3DL1_ENST00000402254.2_Nonsense_Mutation_p.Q205*|KIR3DL1_ENST00000358178.4_Nonsense_Mutation_p.Q110*|KIR3DL1_ENST00000541392.1_Nonsense_Mutation_p.Q205*	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CACCCCCTATCAGTTGTCAGC	0.527000													12	230					0	0	1	0	0
COL6A3	1293	broad.mit.edu	37	2	238277271	238277271	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:238277271G>A	ENST00000295550.4	-	10	5287	c.4835C>T	c.(4834-4836)tCg>tTg	p.S1612L	COL6A3_ENST00000353578.4_Missense_Mutation_p.S1406L|COL6A3_ENST00000347401.3_Missense_Mutation_p.S1411L|COL6A3_ENST00000346358.4_Missense_Mutation_p.S1412L|COL6A3_ENST00000409809.1_Missense_Mutation_p.S1406L|COL6A3_ENST00000472056.1_Missense_Mutation_p.S1005L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1612	Nonhelical 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)		GGGTCCAAACGAGTTCATGAT	0.552000													17	125					0	0	1	0	0
C2orf16	84226	broad.mit.edu	37	2	27804870	27804870	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:27804870G>A	ENST00000408964.2	+	1	5482	c.5431G>A	c.(5431-5433)Gag>Aag	p.E1811K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1811	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGTCCCTTGGAGAGGAGCCG	0.537000													14	254					0	0	1	0	0
DPH5	51611	broad.mit.edu	37	1	101456040	101456040	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:101456040G>A	ENST00000593496.1	+	1	280	c.34G>A	c.(34-36)Gga>Aga	p.G12R	DPH5_ENST00000488176.1_Missense_Mutation_p.P261L|DPH5_ENST00000342173.7_Missense_Mutation_p.P260L|DPH5_ENST00000427040.2_Missense_Mutation_p.P22L|DPH5_ENST00000370109.3_Missense_Mutation_p.P261L|DPH5_ENST00000370105.3_5'UTR																							CATCTCCATTGGATGTATGCT	0.423000													8	116					0	0	1	0	0
IGHV3-35	28432	broad.mit.edu	37	14	106845771	106845771	+	RNA	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:106845771C>T	ENST00000390617.2	-	0	18																											AGCCCAAATTCCATGGTAATT	0.468000													19	113					0	0	1	0	0
SPOCK1	6695	broad.mit.edu	37	5	136324196	136324196	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:136324196G>A	ENST00000394945.1	-	8	1012	c.843C>T	c.(841-843)atC>atT	p.I281I	SPOCK1_ENST00000282223.7_Silent_p.I281I|SPOCK1_ENST00000509978.1_5'UTR	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	281					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)			AAAGAGGCTTGATACAGGGCT	0.493000													6	96					0	0	1	0	0
OR4C46	119749	broad.mit.edu	37	11	51515725	51515725	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:51515725G>A	ENST00000328188.1	+	1	444	c.444G>A	c.(442-444)atG>atA	p.M148I		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TGGTGTGGATGGGAGGCTTTC	0.458000													19	170					0	0	1	0	0
RCC2	55920	broad.mit.edu	37	1	17748706	17748706	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:17748706G>A	ENST00000375436.4	-	6	924	c.737C>T	c.(736-738)cCc>cTc	p.P246L	RCC2_ENST00000375433.3_Missense_Mutation_p.P246L	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	246					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|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;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		CACCTGCGCGGGGCTGGGAAC	0.507000													13	85					0	0	1	0	0
GPR50	9248	broad.mit.edu	37	X	150348631	150348631	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:150348631C>T	ENST00000218316.3	+	2	645	c.576C>T	c.(574-576)atC>atT	p.I192I		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	192					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTGTTACCATCGTCTGCATCC	0.547000													17	105					0	0	1	0	0
NEK11	79858	broad.mit.edu	37	3	130889704	130889704	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:130889704G>A	ENST00000383366.4	+	14	1665	c.1372G>A	c.(1372-1374)Gat>Aat	p.D458N	NEK11_ENST00000412440.2_Missense_Mutation_p.D274N|NEK11_ENST00000356918.4_Missense_Mutation_p.D458N|NEK11_ENST00000511262.1_Missense_Mutation_p.D458N|NEK11_ENST00000429253.2_Missense_Mutation_p.D458N|NEK11_ENST00000510688.1_Missense_Mutation_p.D458N|NEK11_ENST00000510769.1_Missense_Mutation_p.D353N|NEK11_ENST00000507910.1_Missense_Mutation_p.D458N|NEK11_ENST00000508196.1_Missense_Mutation_p.D458N	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	458					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						AATTGTAGAGGATGCCACATC	0.473000													23	133					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51872133	51872133	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:51872133C>T	ENST00000371497.5	+	2	3023	c.2136C>T	c.(2134-2136)ccC>ccT	p.P712P	TSHZ2_ENST00000603338.2_Silent_p.P709P|TSHZ2_ENST00000329613.6_Silent_p.P709P	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	712					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			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)			CCACGGAGCCCTTGCGCTCAC	0.592000													5	77					0	0	1	0	0
SLC25A48	153328	broad.mit.edu	37	5	135188411	135188411	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:135188411C>T	ENST00000274513.5	+	4	494	c.322C>T	c.(322-324)Ctg>Ttg	p.L108L	SLC25A48_ENST00000412661.2_Silent_p.L108L|SLC25A48_ENST00000420621.1_Silent_p.L108L|SLC25A48_ENST00000433282.2_Silent_p.L54L|SLC25A48_ENST00000425402.1_Intron			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	108					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						AGACCTGCTCCTGGCCAGCAT	0.657000													5	88					0	0	1	0	0
FERD3L	222894	broad.mit.edu	37	7	19184938	19184938	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:19184938G>A	ENST00000275461.3	-	1	106	c.48C>T	c.(46-48)ttC>ttT	p.F16F	AC003986.5_ENST00000452700.1_RNA	NM_152898.2	NP_690862.1	Q96RJ6	FER3L_HUMAN	Fer3-like bHLH transcription factor	16					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						GGTCTGCGACGAAGTCCAGCA	0.672000													9	36					0	0	1	0	0
TRAF5	7188	broad.mit.edu	37	1	211545937	211545937	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:211545937C>T	ENST00000336184.2	+	11	1627	c.1567C>T	c.(1567-1569)Cgc>Tgc	p.R523C	TRAF5_ENST00000367004.3_Missense_Mutation_p.R523C|TRAF5_ENST00000427925.2_Missense_Mutation_p.R417C|TRAF5_ENST00000261464.5_Missense_Mutation_p.R523C	NM_004619.3	NP_004610.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	523	MATH.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TGGCTGTCCCCGCTTTGTGGC	0.468000													22	89					0	0	1	0	0
RFWD2	64326	broad.mit.edu	37	1	175957507	175957507	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:175957507G>A	ENST00000367669.3	-	17	2403	c.1889C>T	c.(1888-1890)cCa>cTa	p.P630L	RFWD2_ENST00000308769.8_Missense_Mutation_p.P606L	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	630					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TAGGCAGTATGGTTTCCCTAC	0.393000													17	51					0	0	1	0	0
ONECUT2	9480	broad.mit.edu	37	18	55143779	55143779	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:55143779G>A	ENST00000491143.2	+	2	1371	c.1339G>A	c.(1339-1341)Gag>Aag	p.E447K		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	447					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CATCTTCAAGGAGAACAAACG	0.542000													7	81					0	0	1	0	0
DSCAML1	57453	broad.mit.edu	37	11	117389347	117389347	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:117389347G>A	ENST00000321322.6	-	7	1525	c.1524C>T	c.(1522-1524)atC>atT	p.I508I	DSCAML1_ENST00000527706.1_Silent_p.I238I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	448	Ig-like C2-type 6.				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)		CATCCCGCACGATGGGCTCAT	0.682000													12	64					0	0	1	0	0
PCOLCE2	26577	broad.mit.edu	37	3	142567124	142567124	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:142567124G>A	ENST00000295992.3	-	3	689	c.383C>T	c.(382-384)tCt>tTt	p.S128F	PCOLCE2_ENST00000485766.1_Missense_Mutation_p.S128F	NM_013363.3	NP_037495.1	Q9UKZ9	PCOC2_HUMAN	procollagen C-endopeptidase enhancer 2	128	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GTTGGCATCAGAAATCATCTG	0.512000													15	86					0	0	1	0	0
ACLY	47	broad.mit.edu	37	17	40070007	40070007	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:40070007C>T	ENST00000352035.2	-	2	250	c.120G>A	c.(118-120)tgG>tgA	p.W40*	ACLY_ENST00000537919.1_Nonsense_Mutation_p.W40*|ACLY_ENST00000590151.1_Nonsense_Mutation_p.W40*|ACLY_ENST00000393896.2_Nonsense_Mutation_p.W40*|ACLY_ENST00000353196.1_Nonsense_Mutation_p.W40*	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	40					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)				GCAAGCGGGCCCAGTCTGTGT	0.587000													9	110					0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52359645	52359645	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:52359645C>T	ENST00000356297.4	-	12	1544	c.1444G>A	c.(1444-1446)Gat>Aat	p.D482N	PXDNL_ENST00000543296.1_Missense_Mutation_p.D482N	NM_144651.4	NP_653252.3	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	482	Ig-like C2-type 3.				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)				TGGCCTTGATCGTGCTGTGCT	0.473000													42	130					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175896841	175896841	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:175896841C>T	ENST00000359240.3	+	5	835	c.165C>T	c.(163-165)atC>atT	p.I55I	ADAM29_ENST00000514159.1_Silent_p.I55I|ADAM29_ENST00000445694.1_Silent_p.I55I|ADAM29_ENST00000404450.4_Silent_p.I55I	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	55					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TCTCCTATATCCTGCCCTTTG	0.512000													8	61					0	0	1	0	0
PDZD2	23037	broad.mit.edu	37	5	32073987	32073987	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:32073987G>A	ENST00000438447.1	+	18	3163	c.2775G>A	c.(2773-2775)ggG>ggA	p.G925G	PDZD2_ENST00000282493.3_Silent_p.G925G			O15018	PDZD2_HUMAN	PDZ domain containing 2	925					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				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						TGACTCTTGGGAGCCATCGGG	0.592000													14	166					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120156570	120156570	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:120156570G>A	ENST00000392521.2	-	31	3992	c.3937C>T	c.(3937-3939)Cgc>Tgc	p.R1313C	CIT_ENST00000261833.7_Missense_Mutation_p.R1271C|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1271					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			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)		TCTGCACAGCGAGCTTTCTCC	0.557000													16	97					0	0	1	0	0
PRAMEF1	65121	broad.mit.edu	37	1	12854214	12854214	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:12854214C>T	ENST00000332296.7	+	3	541	c.438C>T	c.(436-438)ccC>ccT	p.P146P		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	146										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)		AGCACCAGCCCTTAAAGGTGT	0.547000													28	557					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764524	138764524	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:138764524A>G	ENST00000242351.5	-	4	1479	c.1163T>C	c.(1162-1164)cTt>cCt	p.L388P	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.L388P|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.L388P	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	388					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CAGAGAGCCAAGAGAAGAGCG	0.547000													15	144					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57734655	57734655	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:57734655G>A	ENST00000281282.5	+	4	1860	c.1782G>A	c.(1780-1782)ggG>ggA	p.G594G		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	594						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)		GAGCAGCTGGGAGCGCCCAAG	0.403000													10	96					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52854702	52854702	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:52854702G>A	ENST00000266041.4	-	13	1875	c.1779C>T	c.(1777-1779)gtC>gtT	p.V593V	ITIH4_ENST00000434759.3_Silent_p.V505V|ITIH4_ENST00000406595.1_Silent_p.V593V|ITIH4_ENST00000485816.1_Silent_p.V593V|ITIH4_ENST00000346281.5_Silent_p.V593V	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	593					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CGGGTTTGGTGACTACCATAG	0.547000											OREG0015616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	74					0	0	1	0	0
TYRP1	7306	broad.mit.edu	37	9	12704573	12704573	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:12704573C>A	ENST00000388918.5	+	6	1258	c.1129C>A	c.(1129-1131)Cac>Aac	p.H377N	TYRP1_ENST00000381136.2_Missense_Mutation_p.H87N|TYRP1_ENST00000381137.2_Missense_Mutation_p.H86N|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	377					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TCGAAGTCTTCACAATTTGGC	0.428000									Oculocutaneous Albinism				13	74					7.03913e-09	7.1664e-09	1	1	0
MAGEC1	9947	broad.mit.edu	37	X	140993581	140993581	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:140993581C>T	ENST00000285879.4	+	4	677	c.391C>T	c.(391-393)Cct>Tct	p.P131S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	131							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)					TCTGCAGAATCCTGCGAGTTC	0.498000										HNSCC(15;0.026)			15	76					0	0	1	0	0
C1orf106	55765	broad.mit.edu	37	1	200867506	200867506	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:200867506C>T	ENST00000367342.4	+	2	433	c.233C>T	c.(232-234)gCc>gTc	p.A78V	C1orf106_ENST00000413687.2_5'UTR	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	78										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTGCTCTGTGCCCTCTCCTTC	0.547000													33	105					0	0	1	0	0
CCRL2	9034	broad.mit.edu	37	3	46450371	46450371	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:46450371C>A	ENST00000399036.3	+	2	1153	c.801C>A	c.(799-801)ttC>ttA	p.F267L	ACKR5_ENST00000400880.3_Missense_Mutation_p.F267L|ACKR5_ENST00000400882.2_Missense_Mutation_p.F267L|ACKR5_ENST00000357392.4_Missense_Mutation_p.F279L	NM_003965.4	NP_003956.2																					AAGAACACTTCTCCCTGAGTG	0.453000													45	427					3.4345e-17	3.50391e-17	1	1	0
ZNF804B	219578	broad.mit.edu	37	7	88956692	88956692	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:88956692G>A	ENST00000333190.4	+	3	893	c.284G>A	c.(283-285)cGa>cAa	p.R95Q		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	95						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GAATTTGCTCGAAATGTAGCT	0.338000										HNSCC(36;0.09)			5	54					0	0	1	0	0
CPA6	57094	broad.mit.edu	37	8	68396959	68396959	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:68396959G>A	ENST00000297770.4	-	7	917	c.702C>T	c.(700-702)atC>atT	p.I234I	CPA6_ENST00000518549.1_Silent_p.I234I|CPA6_ENST00000297769.4_Silent_p.I86I	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	234					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			ACACAGGCATGATATAGAAAT	0.338000													4	67					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131864472	131864472	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:131864472G>A	ENST00000359827.3	-	20	4810	c.3848C>T	c.(3847-3849)tCc>tTc	p.S1283F	PLXNA4_ENST00000321063.4_Missense_Mutation_p.S1283F			Q9HCM2	PLXA4_HUMAN	plexin A4	1283						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						GGCCACACGGGACTCCAGGTT	0.552000													6	54					0	0	1	0	0
ZNF829	374899	broad.mit.edu	37	19	37383142	37383142	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:37383142T>C	ENST00000520965.1	-	6	860	c.794A>G	c.(793-795)tAt>tGt	p.Y265C	ZNF345_ENST00000526123.1_Intron|ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000391711.3_Missense_Mutation_p.Y184C	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTTAGATTCATAGTGTTTTTC	0.373000													6	53					0	0	1	0	0
CYP21A1P	1590	broad.mit.edu	37	6	31975463	31975463	+	RNA	SNP	T	T	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:31975463T>C	ENST00000342991.6	+	0	1386					NR_040090.1		Q5ST44	Q5ST44_HUMAN									electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										GCAGCGACTGTAGGAGGAGCT	0.657000													3	31					0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93778992	93778992	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:93778992G>A	ENST00000315765.9	+	2	332	c.324G>A	c.(322-324)gtG>gtA	p.V108V		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	108	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)				GGGCCGAAGTGGGTGATGTGA	0.463000													6	38					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38627257	38627257	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:38627257C>T	ENST00000413689.1	-	16	2905	c.2712G>A	c.(2710-2712)tgG>tgA	p.W904*	SCN5A_ENST00000425664.1_Nonsense_Mutation_p.W904*|SCN5A_ENST00000423572.2_Nonsense_Mutation_p.W904*|SCN5A_ENST00000414099.2_Nonsense_Mutation_p.W904*|SCN5A_ENST00000451551.2_Nonsense_Mutation_p.W904*|SCN5A_ENST00000333535.4_Nonsense_Mutation_p.W904*|SCN5A_ENST00000450102.2_Nonsense_Mutation_p.W904*|SCN5A_ENST00000449557.2_Nonsense_Mutation_p.W904*|SCN5A_ENST00000443581.1_Nonsense_Mutation_p.W904*|SCN5A_ENST00000455624.2_Nonsense_Mutation_p.W904*	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	904					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)	CCATGCAGTCCCACATGGTCT	0.547000													22	102					0	0	1	0	0
FREM2	341640	broad.mit.edu	37	13	39265947	39265947	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr13:39265947G>A	ENST00000280481.7	+	1	4682	c.4466G>A	c.(4465-4467)gGa>gAa	p.G1489E		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1489					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CAACTGGCTGGAAACAAAATC	0.483000													8	103					0	0	1	0	0
MARCH1	55016	broad.mit.edu	37	4	164506928	164506928	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:164506928C>T	ENST00000503008.1	-	6	1372	c.396G>A	c.(394-396)atG>atA	p.M132I	MARCH1_ENST00000339875.5_Missense_Mutation_p.M115I|MARCH1_ENST00000274056.7_Missense_Mutation_p.M132I|MARCH1_ENST00000514618.1_Missense_Mutation_p.M388I	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	132					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				GCTTGGTCTCCATTATGAAGT	0.483000													6	105					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40231805	40231805	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:40231805G>A	ENST00000302541.6	+	10	1858	c.1516G>A	c.(1516-1518)Gag>Aag	p.E506K	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Missense_Mutation_p.E319K|MYRIP_ENST00000444716.1_Missense_Mutation_p.E506K|MYRIP_ENST00000396217.3_Missense_Mutation_p.E417K|MYRIP_ENST00000425621.1_Missense_Mutation_p.E506K	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	506	Actin-binding.|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)		GGCCAGCAGGGAGACCTCGGA	0.647000													13	114					0	0	1	0	0
CYLC1	1538	broad.mit.edu	37	X	83128760	83128760	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:83128760G>A	ENST00000329312.4	+	4	1081	c.1044G>A	c.(1042-1044)aaG>aaA	p.K348K		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	348					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						aagatacaaagaaggataaga	0.358000													5	16					0	0	1	0	0
COL4A5	1287	broad.mit.edu	37	X	107924162	107924162	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:107924162G>A	ENST00000328300.6	+	46	4307	c.4063G>A	c.(4063-4065)Gaa>Aaa	p.E1355K	COL4A5_ENST00000361603.2_Missense_Mutation_p.E1349K	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1349	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCCTGAGGGGGAACCGGGACT	0.438000									Alport syndrome with Diffuse Leiomyomatosis				11	48					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13811764	13811764	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:13811764G>A	ENST00000265104.4	-	44	7503	c.7399C>T	c.(7399-7401)Cct>Tct	p.P2467S		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2467					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)					ACCTTCAGAGGAATCAGGCCT	0.403000									Kartagener syndrome				9	79					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117243596	117243596	+	Nonsense_Mutation	SNP	C	C	T	rs79633941		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:117243596C>T	ENST00000003084.6	+	17	2800	c.2668C>T	c.(2668-2670)Caa>Taa	p.Q890*	CFTR_ENST00000454343.1_Nonsense_Mutation_p.Q829*	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	890	ABC transmembrane type-1 2.				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|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain 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)	CACTCCTCTTCAAGACAAAGG	0.363000									Cystic Fibrosis				8	73					0	0	1	0	0
GPR176	11245	broad.mit.edu	37	15	40099227	40099227	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:40099227G>A	ENST00000299092.3	-	3	600	c.402C>T	c.(400-402)ttC>ttT	p.F134F	GPR176_ENST00000560729.1_5'UTR|GPR176_ENST00000543580.1_Silent_p.F90F|GPR176_ENST00000561100.1_Silent_p.F135F	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	135					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CAATAGCAGGGAAGCTGAGGA	0.418000													13	260					0	0	1	0	0
OR10AG1	282770	broad.mit.edu	37	11	55735698	55735698	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:55735698C>T	ENST00000312345.2	-	1	292	c.242G>A	c.(241-243)gGa>gAa	p.G81E		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G81E(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AGAAATATTTCCTTTCTGAGT	0.383000													6	89					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8197067	8197067	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:8197067C>T	ENST00000520004.1	-	4	2505	c.2241G>A	c.(2239-2241)agG>agA	p.R747R	SGK223_ENST00000330777.4_Silent_p.R747R			Q86YV5	SG223_HUMAN		747							ATP binding|non-membrane spanning protein tyrosine kinase activity										CGTGGACACCCCTGAAGGATG	0.537000													14	70					0	0	1	0	0
C10orf71	118461	broad.mit.edu	37	10	50532604	50532604	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:50532604C>T	ENST00000374144.3	+	3	2302	c.2014C>T	c.(2014-2016)Ctc>Ttc	p.L672F	C10orf71_ENST00000323868.4_Missense_Mutation_p.L672F			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	672										endometrium(1)	1						AGAGAATGGGCTCTCCAGATC	0.537000													4	50					0	0	1	0	0
LIX1	167410	broad.mit.edu	37	5	96430636	96430636	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:96430636G>A	ENST00000274382.4	-	6	960	c.665C>T	c.(664-666)tCt>tTt	p.S222F	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	222										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)		TAGCTCTTGAGAGACAATTCC	0.473000													15	96					0	0	1	0	0
CNTNAP3	79937	broad.mit.edu	37	9	39171400	39171400	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:39171400G>A	ENST00000297668.6	-	8	1372	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	CNTNAP3_ENST00000377656.2_Silent_p.F433F|CNTNAP3_ENST00000377659.1_Silent_p.F433F|CNTNAP3_ENST00000323947.7_Silent_p.F433F|CNTNAP3_ENST00000358144.2_Silent_p.F345F	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	433	Laminin G-like 2.				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)		GTCCCGGCTGGAAGAGACTCA	0.473000													29	143					0	0	1	0	0
IFIH1	64135	broad.mit.edu	37	2	163133442	163133442	+	Silent	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:163133442A>G	ENST00000263642.2	-	11	2454	c.2059T>C	c.(2059-2061)Ttg>Ctg	p.L687L		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	687					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						AGCCTTTTCAACATTTTATTG	0.328000													6	84					0	0	1	0	0
IQCJ	654502	broad.mit.edu	37	3	158983065	158983065	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:158983065G>A	ENST00000482126.1	+	4	377	c.272G>A	c.(271-273)gGg>gAg	p.G91E	IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron|IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ_ENST00000451172.1_Missense_Mutation_p.G118E	NM_001197100.1	NP_001184029.1			IQ motif containing J											cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			CAGTCACCTGGGGACAAGTTG	0.493000													21	142					0	0	1	0	0
HEATR1	55127	broad.mit.edu	37	1	236738076	236738076	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:236738076G>A	ENST00000366582.3	-	23	3326	c.3212C>T	c.(3211-3213)tCa>tTa	p.S1071L	HEATR1_ENST00000366581.2_Intron	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1071					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)			AAGGGAAACTGAAAATTCATT	0.423000													18	61					0	0	1	0	0
TMEM132D	121256	broad.mit.edu	37	12	129559022	129559022	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:129559022C>T	ENST00000422113.2	-	9	3024	c.2698G>A	c.(2698-2700)Gaa>Aaa	p.E900K	TMEM132D_ENST00000389441.4_Missense_Mutation_p.E438K	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	900						integral to membrane				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)		CCATCCATTTCCCCATTGCTT	0.522000													11	127					0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236914838	236914838	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:236914838C>T	ENST00000366578.4	+	15	1891	c.1725C>T	c.(1723-1725)atC>atT	p.I575I	ACTN2_ENST00000542672.1_Silent_p.I575I|ACTN2_ENST00000546208.1_Silent_p.I69I	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	575					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP 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)			GGCAGTCCATCATGGCCATCC	0.547000													18	59					0	0	1	0	0
GLRB	2743	broad.mit.edu	37	4	158057740	158057740	+	Nonsense_Mutation	SNP	G	G	A	rs62636642		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:158057740G>A	ENST00000264428.4	+	5	687	c.417G>A	c.(415-417)tgG>tgA	p.W139*	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Nonsense_Mutation_p.W139*|GLRB_ENST00000509282.1_Nonsense_Mutation_p.W139*	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	139					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	AGTGTTTATGGAAACCTGATT	0.408000													6	105					0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629390	1629390	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:1629390C>T	ENST00000399685.1	-	1	303	c.226G>A	c.(226-228)Ggc>Agc	p.G76S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	76	11 X 4 AA repeats of C-C-X-P.		G -> V (in dbSNP:rs7125826).			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)		GAGCCACAGCCCCCCTTGCAG	0.677000													13	101					0	0	1	0	0
HIST1H4C	8364	broad.mit.edu	37	6	26104256	26104256	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:26104256C>T	ENST00000377803.2	+	1	153	c.81C>T	c.(79-81)atC>atT	p.I27I		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	27					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						GGGATAACATCCAGGGCATTA	0.562000													5	95					0	0	1	0	0
KIAA1324L	222223	broad.mit.edu	37	7	86526854	86526854	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:86526854C>T	ENST00000450689.2	-	19	2838	c.2653G>A	c.(2653-2655)Gag>Aag	p.E885K	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.E645K|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.E814K|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.E718K	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	885						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)					CCCTCAATCTCATGGAAGTCA	0.473000													14	95					0	0	1	0	0
OR6A2	8590	broad.mit.edu	37	11	6816142	6816142	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:6816142C>T	ENST00000332601.3	-	1	986	c.798G>A	c.(796-798)cgG>cgA	p.R266R		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTGCCTTTGGCCGAGCATAGA	0.473000													8	117					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9059574	9059574	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:9059574A>C	ENST00000397910.4	-	3	28075	c.27872T>G	c.(27871-27873)aTg>aGg	p.M9291R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9293	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						GCTGGTCTCCATCAACCCAGG	0.493000													14	190					0	0	1	0	0
CYP4F12	66002	broad.mit.edu	37	19	15807820	15807820	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:15807820G>A	ENST00000550308.1	+	13	1880	c.1500G>A	c.(1498-1500)agG>agA	p.R500R	CYP4F12_ENST00000324632.9_Silent_p.R500R	NM_023944.3	NP_076433.3			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					AGCCCCGCAGGAAGCTGGAAT	0.597000													7	62					0	0	1	0	0
SPTB	6710	broad.mit.edu	37	14	65252478	65252478	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:65252478C>T	ENST00000389722.3	-	16	3806	c.3753G>A	c.(3751-3753)ctG>ctA	p.L1251L	SPTB_ENST00000389720.3_Silent_p.L1251L|SPTB_ENST00000542895.1_Silent_p.L1251L|SPTB_ENST00000389721.5_Silent_p.L1251L|SPTB_ENST00000556626.1_Silent_p.L1251L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1251					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGTCCTCAATCAGCTGCACCT	0.587000													40	217					0	0	1	0	0
GBA3	57733	broad.mit.edu	37	4	22749236	22749236	+	RNA	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:22749236G>A	ENST00000511446.1	+	0	607				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						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						TAAGGCTCATGCCAGATCCTG	0.443000													22	146					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164709179	164709179	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:164709179G>A	ENST00000264382.3	-	44	5132	c.5070C>T	c.(5068-5070)atC>atT	p.I1690I		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1690	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.I1690I(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GACATGGTAGGATGTGACCAC	0.383000										HNSCC(35;0.089)			10	103					0	0	1	0	0
RHOU	58480	broad.mit.edu	37	1	228879114	228879114	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:228879114C>T	ENST00000366691.3	+	3	1070	c.404C>T	c.(403-405)tCc>tTc	p.S135F		NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN	ras homolog family member U	135					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				AGCCCCTCATCCTTCCAGAAC	0.517000													8	214					0	0	1	0	0
TMEM176B	28959	broad.mit.edu	37	7	150490224	150490224	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:150490224C>T	ENST00000447204.2	-	5	924	c.552G>A	c.(550-552)gaG>gaA	p.E184E	TMEM176B_ENST00000326442.5_Silent_p.E184E|TMEM176B_ENST00000434545.1_Silent_p.E184E|TMEM176B_ENST00000492607.1_Silent_p.E184E|TMEM176B_ENST00000450753.2_Silent_p.E147E|TMEM176B_ENST00000429904.2_Silent_p.E184E	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	184					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCATTGGTTCTCTTGACTTC	0.512000													7	140					0	0	1	0	0
C1QTNF2	114898	broad.mit.edu	37	5	159776704	159776704	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:159776704G>A	ENST00000393975.3	-	3	467	c.464C>T	c.(463-465)cCc>cTc	p.P155L		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	110	C1q.					collagen				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GACCCCCTTGGGGCCACGGGG	0.687000													11	84					0	0	1	0	0
BHMT2	23743	broad.mit.edu	37	5	78378726	78378726	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:78378726G>A	ENST00000255192.3	+	5	611	c.545G>A	c.(544-546)gGa>gAa	p.G182E	DMGDH_ENST00000520388.1_Intron|BHMT2_ENST00000521567.1_Missense_Mutation_p.G118E	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	182	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	GGCCCAGAGGGAGACATGCAT	0.483000													7	149					0	0	1	0	0
NCKAP1L	3071	broad.mit.edu	37	12	54915017	54915017	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:54915017G>A	ENST00000293373.6	+	18	1952	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.E575K	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	625					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AAACCTGAGCGAGCAGGTAGA	0.547000													8	72					0	0	1	0	0
ELMO2	63916	broad.mit.edu	37	20	45017819	45017819	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:45017819G>A	ENST00000372176.1	-	7	488	c.20C>T	c.(19-21)tCc>tTc	p.S7F	ELMO2_ENST00000396391.1_Missense_Mutation_p.S95F|ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000290246.6_Missense_Mutation_p.S95F|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000439931.2_Missense_Mutation_p.S95F|ELMO2_ENST00000352077.2_Missense_Mutation_p.S95F			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	95					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				CTCCATGTTGGATGACTGGGT	0.562000													15	114					0	0	1	0	0
SCN7A	6332	broad.mit.edu	37	2	167263132	167263132	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:167263132C>T	ENST00000409855.1	-	25	4133	c.4007G>A	c.(4006-4008)gGa>gAa	p.G1336E		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1336					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						AAGGTAGGATCCTACTGTCAT	0.408000													8	124					0	0	1	0	0
IGFL4	444882	broad.mit.edu	37	19	46543619	46543619	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:46543619G>A	ENST00000377697.1	-	3	179	c.126C>T	c.(124-126)aaC>aaT	p.N42N	IGFL4_ENST00000595006.1_5'UTR|IGFL4_ENST00000601672.1_5'UTR	NM_001002923.1	NP_001002923.1	Q6B9Z1	IGFL4_HUMAN	IGF-like family member 4	42						extracellular region				cervix(1)|kidney(1)|lung(1)	3		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		GCTCCAAGGGGTTGTAGGTCC	0.617000													6	69					0	0	1	0	0
RIMS2	9699	broad.mit.edu	37	8	104897577	104897577	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:104897577G>A	ENST00000507740.1	+	2	410	c.174G>A	c.(172-174)agG>agA	p.R58R	RIMS2_ENST00000436393.2_Silent_p.R28R|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Silent_p.R58R|RIMS2_ENST00000406091.3_Silent_p.R250R	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	281	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase 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)			ACGACCAAAGGGAAGAAAGAG	0.403000										HNSCC(12;0.0054)			18	65					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25299365	25299365	+	RNA	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:25299365G>A	ENST00000549804.2	+	0	98				SNORD116-2_ENST00000384274.1_RNA|SNHG14_ENST00000547292.1_RNA																							TTGGATCGATGATGAGTCCCC	0.488000													16	209					0	0	1	0	0
MRPL30	51263	broad.mit.edu	37	2	99804688	99804688	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:99804688C>T	ENST00000338148.3	+	3	298	c.100C>T	c.(100-102)Cac>Tac	p.H34Y	MRPL30_ENST00000465432.1_Intron|MRPL30_ENST00000409145.1_Missense_Mutation_p.H34Y|C2orf15_ENST00000512183.2_Missense_Mutation_p.H34Y|MRPL30_ENST00000410042.1_Missense_Mutation_p.H34Y	NM_145212.3	NP_660213.1	Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	34					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						TTGGATTCGTCACAAATTCAC	0.289000													3	16					0	0	1	0	0
PALD1	27143	broad.mit.edu	37	10	72292520	72292520	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:72292520C>T	ENST00000263563.6	+	6	1045	c.777C>T	c.(775-777)ttC>ttT	p.F259F		NM_014431.2	NP_055246.2			phosphatase domain containing, paladin 1																		GGCCCCTCTTCCTGCAGCCCA	0.632000													13	105					0	0	1	0	0
COLQ	8292	broad.mit.edu	37	3	15529759	15529759	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:15529759G>A	ENST00000383785.2	-	3	400	c.275C>T	c.(274-276)cCg>cTg	p.P92L	COLQ_ENST00000603808.1_Missense_Mutation_p.P92L|COLQ_ENST00000383781.4_Missense_Mutation_p.P82L|COLQ_ENST00000435459.2_Missense_Mutation_p.P82L|COLQ_ENST00000383786.5_Intron|COLQ_ENST00000383788.5_Missense_Mutation_p.P92L|COLQ_ENST00000383787.2_Missense_Mutation_p.P92L			Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	92					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						TTGCATGCACGGGGACTGCGA	0.587000													6	74					0	0	1	0	0
CACNA1H	8912	broad.mit.edu	37	16	1254210	1254210	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:1254210C>T	ENST00000348261.5	+	10	2451	c.2203C>T	c.(2203-2205)Cgg>Tgg	p.R735W	CACNA1H_ENST00000358590.4_Missense_Mutation_p.R735W|CACNA1H_ENST00000565831.1_Missense_Mutation_p.R735W	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	735					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCAGGACGTCCGGCACGGTGA	0.701000													3	25					0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55284957	55284957	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:55284957C>T	ENST00000336077.6	+	3	283	c.243C>T	c.(241-243)tcC>tcT	p.S81S	KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Silent_p.S81S	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	81	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)		ATGGGGTCTCCAAGGCCAACT	0.517000													16	247					0	0	1	0	0
MED12L	116931	broad.mit.edu	37	3	151095814	151095814	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:151095814G>A	ENST00000474524.1	+	29	4264	c.4226G>A	c.(4225-4227)aGg>aAg	p.R1409K	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.R1269K	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1409					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)			TCCGAACGCAGGGGTGTATGG	0.522000													12	102					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53837584	53837584	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:53837584C>T	ENST00000288139.3	+	45	5748	c.5630C>T	c.(5629-5631)tCg>tTg	p.S1877L	CACNA1D_ENST00000350061.5_Missense_Mutation_p.S1857L|CACNA1D_ENST00000422281.2_Missense_Mutation_p.S1833L|CACNA1D_ENST00000544977.1_Missense_Mutation_p.S236L	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1857					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GATGACAGCTCGCCCACCTGG	0.642000													17	166					0	0	1	0	0
MAP2K1	5604	broad.mit.edu	37	15	66727455	66727455	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:66727455G>T	ENST00000307102.5	+	2	702	c.171G>T	c.(169-171)aaG>aaT	p.K57N		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	57					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.K57N(3)		endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						TTACCCAGAAGCAGAAGGTGG	0.542000													23	229					1.10513e-12	1.12668e-12	1	1	0
EP300	2033	broad.mit.edu	37	22	41574341	41574341	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:41574341A>T	ENST00000263253.7	+	31	7845	c.6626A>T	c.(6625-6627)aAc>aTc	p.N2209I	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2209	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GCCAACCATAACCAGTTCCAG	0.527000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				9	98					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23902902	23902902	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:23902902G>A	ENST00000355349.3	-	3	202	c.40C>T	c.(40-42)Ccc>Tcc	p.P14S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	14	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	actin binding|actin-dependent ATPase activity|ATP binding|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)		CGCAGGTAGGGGGCGGCAGCC	0.577000													5	78					0	0	1	0	0
KRTAP10-10	353333	broad.mit.edu	37	21	46057913	46057913	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr21:46057913C>T	ENST00000380095.1	+	1	641	c.579C>T	c.(577-579)ctC>ctT	p.L193L	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	193	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TGTCCCTCCTCTGCCACCCTG	0.677000													25	215					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21063043	21063043	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:21063043G>A	ENST00000261383.3	-	29	4185	c.4186C>T	c.(4186-4188)Ctg>Ttg	p.L1396L	DNAH3_ENST00000415178.1_Silent_p.L1396L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1396	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GAGTTTCCCAGGTACTCATAG	0.552000													31	103					0	0	1	0	0
RNF213	57674	broad.mit.edu	37	17	78336975	78336975	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:78336975C>T	ENST00000582970.1	+	40	11572	c.11429C>T	c.(11428-11430)tCc>tTc	p.S3810F	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.S1883F|RNF213_ENST00000508628.2_Missense_Mutation_p.S3859F|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										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)			GAAGAGGTTTCCTTACCGTGG	0.512000													8	85					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57059672	57059672	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:57059672C>T	ENST00000436936.1	+	6	1042	c.817C>T	c.(817-819)Ccg>Tcg	p.P273S	NLRC5_ENST00000308149.7_Missense_Mutation_p.P273S|NLRC5_ENST00000262510.6_Missense_Mutation_p.P273S|NLRC5_ENST00000539144.1_Missense_Mutation_p.P273S			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	273	NACHT.				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTTCCTGACACCGTCCGAGCT	0.542000													16	107					0	0	1	0	0
OR5P3	120066	broad.mit.edu	37	11	7847217	7847217	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:7847217G>A	ENST00000328375.1	-	1	302	c.303C>T	c.(301-303)ctC>ctT	p.L101L	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTACAGAACAGAGCTGGGCCA	0.532000													10	143					0	0	1	0	0
OR11L1	391189	broad.mit.edu	37	1	248004482	248004482	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:248004482G>A	ENST00000355784.2	-	1	772	c.717C>T	c.(715-717)tcC>tcT	p.S239S		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGCCACATGTGGAAAAGGTCT	0.493000													27	87					0	0	1	0	0
ADAMDEC1	27299	broad.mit.edu	37	8	24256953	24256953	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:24256953C>T	ENST00000538205.1	+	11	1287	c.740C>T	c.(739-741)tCc>tTc	p.S247F	RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.S326F|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.S247F	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	326	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)		GCTTCAAATTCCTTGTGTTCC	0.423000													25	87					0	0	1	0	0
REEP2	51308	broad.mit.edu	37	5	137780108	137780108	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:137780108C>T	ENST00000378339.2	+	4	379	c.187C>T	c.(187-189)Ccc>Tcc	p.P63S	REEP2_ENST00000254901.5_Missense_Mutation_p.P63S|REEP2_ENST00000506158.1_Missense_Mutation_p.P25S	NM_001271803.1	NP_001258732.1	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	63						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAACAGGTTCCCCTTCTACTT	0.607000													8	90					0	0	1	0	0
XKRX	402415	broad.mit.edu	37	X	100182964	100182964	+	Silent	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:100182964A>G	ENST00000328526.5	-	1	934	c.369T>C	c.(367-369)gtT>gtC	p.V123V	XKRX_ENST00000372956.2_Silent_p.V110V|XKRX_ENST00000468904.1_Silent_p.V110V	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	110						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						CTCACCTGATAACAGGTCCCA	0.423000													16	85					0	0	1	0	0
VWA3A	146177	broad.mit.edu	37	16	22122259	22122259	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:22122259C>T	ENST00000389398.5	+	8	729	c.633C>T	c.(631-633)tcC>tcT	p.S211S	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	211						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TTGTCCTGTCCTTTGGCACCA	0.562000													3	14					0	0	1	0	0
ERAS	3266	broad.mit.edu	37	X	48688111	48688111	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:48688111C>T	ENST00000338270.1	+	1	829	c.578C>T	c.(577-579)tCc>tTc	p.S193F		NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	193					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						GAGGCCTTTTCCCTGCTGGTC	0.647000													3	9					0	0	1	0	0
FN1	2335	broad.mit.edu	37	2	216288194	216288194	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:216288194G>A	ENST00000354785.4	-	9	1641	c.1272C>T	c.(1270-1272)ttC>ttT	p.F424F	FN1_ENST00000443816.1_Silent_p.F424F|FN1_ENST00000323926.6_Silent_p.F424F|FN1_ENST00000432072.2_Silent_p.F424F|FN1_ENST00000421182.1_Silent_p.F424F|FN1_ENST00000359671.1_Silent_p.F424F|FN1_ENST00000357867.4_Silent_p.F424F|FN1_ENST00000357009.2_Silent_p.F424F|FN1_ENST00000356005.4_Silent_p.F424F|FN1_ENST00000446046.1_Silent_p.F424F|FN1_ENST00000346544.3_Silent_p.F424F|FN1_ENST00000345488.5_Silent_p.F424F|FN1_ENST00000336916.4_Silent_p.F424F|FN1_ENST00000426059.1_Silent_p.F424F			P02751	FINC_HUMAN	fibronectin 1	424	Collagen-binding.|Fibronectin type-II 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTTGTATAGGAAGGGGAAGT	0.463000													4	49					0	0	1	0	0
STON2	85439	broad.mit.edu	37	14	81837403	81837403	+	Missense_Mutation	SNP	G	G	A	rs146988761	byFrequency	TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:81837403G>A	ENST00000555447.1	-	5	912	c.500C>T	c.(499-501)tCg>tTg	p.S167L	STON2_ENST00000267540.2_Missense_Mutation_p.S167L	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	167					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ATCTGTATACGAACATCCAAA	0.542000													19	116					0	0	1	0	0
SPEF2	79925	broad.mit.edu	37	5	35727825	35727825	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:35727825C>T	ENST00000440995.2	+	21	2948	c.2948C>T	c.(2947-2949)tCa>tTa	p.S983L	SPEF2_ENST00000356031.3_Missense_Mutation_p.S988L|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	988					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)			GTAAAGAAATCACCTGCTGAC	0.403000													14	76					0	0	1	0	0
VPS16	64601	broad.mit.edu	37	20	2843503	2843503	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:2843503C>T	ENST00000380445.3	+	13	1326	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	VPS16_ENST00000380469.3_Intron|VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380443.3_Silent_p.F104F	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	418					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CCGACAGCTTCGTGCACATGT	0.582000													20	156					0	0	1	0	0
ADPRH	141	broad.mit.edu	37	3	119301104	119301104	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:119301104G>T	ENST00000478399.1	+	2	1493	c.88G>T	c.(88-90)Ggg>Tgg	p.G30W	ADPRH_ENST00000471850.1_Intron|ADPRH_ENST00000465513.1_Missense_Mutation_p.G30W|ADPRH_ENST00000357003.3_Missense_Mutation_p.G30W|ADPRH_ENST00000478927.1_Missense_Mutation_p.G30W			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	30					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		CCTCCAGGATGGGGAGAAGAT	0.572000													14	67					1.49906e-05	1.51877e-05	1	1	0
CHSY3	337876	broad.mit.edu	37	5	129521355	129521355	+	Silent	SNP	T	T	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:129521355T>C	ENST00000305031.4	+	3	2878	c.2520T>C	c.(2518-2520)ccT>ccC	p.P840P		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	840						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		ATTGTGATCCTAACTTGGACC	0.418000													9	88					0	0	1	0	0
CEACAM7	1087	broad.mit.edu	37	19	42187961	42187961	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:42187961T>C	ENST00000006724.3	-	3	662	c.461A>G	c.(460-462)aAc>aGc	p.N154S	CEACAM7_ENST00000602225.1_Intron|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000401731.1_Missense_Mutation_p.N154S	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	154	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CGGATTGAAGTTGTTGCTGGT	0.512000													9	177					0	0	1	0	0
SLC6A11	6538	broad.mit.edu	37	3	10953844	10953844	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:10953844G>A	ENST00000254488.2	+	7	1027	c.961G>A	c.(961-963)Gga>Aga	p.G321R		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	321					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		GACCGCTCTGGGAAGTTATAA	0.507000													15	124					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113675656	113675656	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:113675656G>A	ENST00000003302.4	-	20	2581	c.2513C>T	c.(2512-2514)cCc>cTc	p.P838L	USP28_ENST00000260188.5_Missense_Mutation_p.P806L|USP28_ENST00000544967.1_Missense_Mutation_p.P514L|USP28_ENST00000545540.1_Missense_Mutation_p.P681L	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	838					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TACCCTTTTGGGTGCTTCATT	0.443000													7	51					0	0	1	0	0
NFRKB	4798	broad.mit.edu	37	11	129734652	129734652	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:129734652G>A	ENST00000446488.3	-	26	3971	c.3868C>T	c.(3868-3870)Ccg>Tcg	p.P1290S	NFRKB_ENST00000524794.1_Missense_Mutation_p.P1315S|NFRKB_ENST00000524746.1_Missense_Mutation_p.P1290S|NFRKB_ENST00000304521.5_Missense_Mutation_p.P1290S	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1290					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	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;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		TTAGGAGACGGAGCTGTAGTC	0.542000													5	80					0	0	1	0	0
OR51G1	79324	broad.mit.edu	37	11	4944978	4944978	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:4944978G>A	ENST00000321961.2	-	1	659	c.592C>T	c.(592-594)Cac>Tac	p.H198Y	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCATAGATGTGATTGACAATG	0.532000													5	96					0	0	1	0	0
ARHGEF12	23365	broad.mit.edu	37	11	120350842	120350842	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:120350842C>T	ENST00000397843.2	+	38	4106	c.3940C>T	c.(3940-3942)Ccc>Tcc	p.P1314S	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.P1211S|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.P1295S	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1314					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		AGGACATATGCCCTTTAGAAC	0.483000			T	MLL	AML								7	172					0	0	1	0	0
CDK5	1020	broad.mit.edu	37	7	150752154	150752154	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:150752154G>A	ENST00000485972.1	-	9	1291	c.610C>T	c.(610-612)Ccc>Tcc	p.P204S	CDK5_ENST00000297518.4_Missense_Mutation_p.P172S	NM_004935.3	NP_004926.1	Q00535	CDK5_HUMAN	cyclin-dependent kinase 5	204	Protein kinase.				activation of pro-apoptotic gene products|blood coagulation|cell division|cell proliferation|embryo development|negative regulation of transcription, DNA-dependent|positive regulation of neuron apoptosis	axon|cytosol|dendrite|growth cone|lamellipodium|membrane|neuromuscular junction|neuronal cell body	acetylcholine receptor activator activity|ATP binding|cyclin-dependent protein kinase activity|ErbB-2 class receptor binding|ErbB-3 class receptor binding|tau-protein kinase activity			central_nervous_system(1)|endometrium(2)|lung(5)|urinary_tract(1)	9		Breast(660;0.159)|Ovarian(593;0.182)	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.008)|Lung(243;0.00942)|BRCA - Breast invasive adenocarcinoma(188;0.242)		TCATTGCCGGGAAAAAGAGGC	0.557000													5	48					0	0	1	0	0
LGR6	59352	broad.mit.edu	37	1	202288019	202288019	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:202288019C>T	ENST00000367278.3	+	18	2677	c.2588C>T	c.(2587-2589)tCc>tTc	p.S863F	LGR6_ENST00000255432.7_Missense_Mutation_p.S811F|LGR6_ENST00000439764.2_Missense_Mutation_p.S724F	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	863						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GAGAAGAGCTCCTGTGATTCT	0.637000													32	97					0	0	1	0	0
ENDOD1	23052	broad.mit.edu	37	11	94861676	94861676	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:94861676C>T	ENST00000278505.4	+	2	554	c.436C>T	c.(436-438)Cca>Tca	p.P146S		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	146						extracellular region	endonuclease activity|metal ion binding|nucleic acid binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				ACAGCTTTACCCATTCTCCCT	0.478000													6	100					0	0	1	0	0
SLC29A3	55315	broad.mit.edu	37	10	73122116	73122116	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:73122116C>T	ENST00000373189.5	+	6	1231	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	393					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						TCCCCCTCTTCGTGCTCTGTA	0.642000													7	137					0	0	1	0	0
COL16A1	1307	broad.mit.edu	37	1	32156802	32156802	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:32156802G>A	ENST00000373672.3	-	20	1940	c.1424C>T	c.(1423-1425)cCc>cTc	p.P475L	COL16A1_ENST00000373668.3_Missense_Mutation_p.P475L|COL16A1_ENST00000271069.6_Missense_Mutation_p.P475L	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	475	Triple-helical region 9 (COL9) with 3 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GTCTCCCTTGGGGCCTGGTGG	0.622000													17	124					0	0	1	0	0
CLU	1191	broad.mit.edu	37	8	27457472	27457472	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:27457472G>A	ENST00000316403.10	-	7	1394	c.989C>T	c.(988-990)tCc>tTc	p.S330F	CLU_ENST00000405140.3_Missense_Mutation_p.S330F|CLU_ENST00000560366.1_Missense_Mutation_p.S382F|CLU_ENST00000546343.1_Missense_Mutation_p.S341F|CLU_ENST00000523500.1_Missense_Mutation_p.S330F			P10909	CLUS_HUMAN	clusterin	330					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding	p.S382Y(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		GACCTGGAGGGATTCGTCGAG	0.557000													8	35					0	0	1	0	0
LPHN2	23266	broad.mit.edu	37	1	82450956	82450956	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:82450956G>A	ENST00000370728.1	+	23	4058	c.3413G>A	c.(3412-3414)aGa>aAa	p.R1138K	LPHN2_ENST00000370725.1_Missense_Mutation_p.R1153K|LPHN2_ENST00000394879.1_Missense_Mutation_p.R1140K|LPHN2_ENST00000319517.6_Missense_Mutation_p.R1125K|LPHN2_ENST00000370730.1_Missense_Mutation_p.R1138K|LPHN2_ENST00000335786.5_Missense_Mutation_p.R1138K|LPHN2_ENST00000359929.3_Missense_Mutation_p.R1125K|LPHN2_ENST00000370721.1_Missense_Mutation_p.R1063K|LPHN2_ENST00000370727.1_Missense_Mutation_p.R1153K|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.R1125K|LPHN2_ENST00000370723.1_Missense_Mutation_p.R1140K|LPHN2_ENST00000271029.4_Missense_Mutation_p.R1153K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.R1153K			O95490	LPHN2_HUMAN	latrophilin 2	1138					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)		CGTATAAGAAGAATGTGGAAT	0.323000													4	34					0	0	1	0	0
QRICH2	84074	broad.mit.edu	37	17	74288159	74288159	+	Silent	SNP	T	T	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:74288159T>C	ENST00000262765.5	-	4	2330	c.2151A>G	c.(2149-2151)caA>caG	p.Q717Q		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	717	Gln-rich.						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						ccattccaggttggaccaaac	0.567000													12	92					0	0	1	0	0
SCNN1A	6337	broad.mit.edu	37	12	6457950	6457950	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:6457950G>A	ENST00000396966.2	-	10	1533	c.1514C>T	c.(1513-1515)tCa>tTa	p.S505L	SCNN1A_ENST00000360168.3_Silent_p.V583V|SCNN1A_ENST00000540037.1_Silent_p.V224V|SCNN1A_ENST00000228916.2_Silent_p.V524V|SCNN1A_ENST00000543768.1_Silent_p.V547V|SCNN1A_ENST00000358945.3_Silent_p.V546V			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	0					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	AGAAGATGTTGACTTTGGCCA	0.498000													27	150					0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143826566	143826566	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:143826566C>T	ENST00000408899.2	+	1	416	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					GTCCTATGATCGCTATGCGGA	0.488000													26	296					0	0	1	0	0
STEAP4	79689	broad.mit.edu	37	7	87912006	87912006	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:87912006G>A	ENST00000380079.4	-	3	1035	c.934C>T	c.(934-936)Cct>Tct	p.P312S	AC003991.3_ENST00000434733.1_RNA|STEAP4_ENST00000414498.1_Missense_Mutation_p.P312S|AC003991.3_ENST00000447758.1_RNA|STEAP4_ENST00000301959.5_Intron|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	312	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					TATCGAATAGGAATCACAAGT	0.428000													7	95					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920725	4920725	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:4920725G>A	ENST00000433855.1	+	1	2384	c.1518G>A	c.(1516-1518)cgG>cgA	p.R506R	KCNA6_ENST00000280684.3_Silent_p.R506R	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	506						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						AGGCTAACCGGGAACGGAGAC	0.612000										HNSCC(72;0.22)			18	97					0	0	1	0	0
ZNF727	442319	broad.mit.edu	37	7	63529378	63529378	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:63529378G>A	ENST00000550760.3	+	2	292	c.113G>A	c.(112-114)gGa>gAa	p.G38E	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	38	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						GAGAACTACGGAAACCTGTTC	0.388000													4	15					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38991680	38991680	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:38991680G>A	ENST00000450244.1	-	1	372	c.174C>T	c.(172-174)gcC>gcT	p.A58A	SCN11A_ENST00000456224.3_Silent_p.A58A|SCN11A_ENST00000444237.2_Silent_p.A58A|SCN11A_ENST00000302328.3_Silent_p.A58A			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	58					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)	ACTTCCTGGAGGCCTTTAGGT	0.498000													25	174					0	0	1	0	0
SLC4A8	9498	broad.mit.edu	37	12	51888745	51888745	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:51888745A>G	ENST00000453097.2	+	21	3003	c.2786A>G	c.(2785-2787)aAg>aGg	p.K929R	SLC4A8_ENST00000358657.3_Missense_Mutation_p.K956R	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	929					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		GATCGTCTAAAGCTCTTTGGG	0.473000													9	90					0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784108	151784108	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:151784108G>A	ENST00000255262.3	-	1	732	c.567C>T	c.(565-567)ttC>ttT	p.F189F	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	189					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGAAGTAGTGGAACTTGATGC	0.597000													17	168					0	0	1	0	0
SLC25A18	83733	broad.mit.edu	37	22	18064150	18064150	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:18064150G>A	ENST00000327451.5	+	5	708	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	SLC25A18_ENST00000399813.1_Missense_Mutation_p.R57Q|SLC25A18_ENST00000497401.1_3'UTR|AC004019.13_ENST00000443935.1_RNA	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	57						integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	AAGACGGCTCGGGCGGAGGGC	0.652000													8	123					0	0	1	0	0
ANKRD36BP2	645784	broad.mit.edu	37	2	89084266	89084266	+	RNA	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:89084266C>T	ENST00000393525.3	+	0	634																											GATTCTGTTTCAAATATAGCC	0.338000													5	34					0	0	1	0	0
PAQR9	344838	broad.mit.edu	37	3	142681299	142681299	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:142681299T>A	ENST00000340634.3	-	1	879	c.880A>T	c.(880-882)Aag>Tag	p.K294*		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	294						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						TCGGGGATCTTGCTCACGTTG	0.587000													14	115					0	0	1	0	0
RP1	6101	broad.mit.edu	37	8	55537400	55537400	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:55537400G>A	ENST00000220676.1	+	4	1106	c.958G>A	c.(958-960)Gag>Aag	p.E320K		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	320					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)			AGATGATATTGAGAAATCAAT	0.318000													11	38					0	0	1	0	0
MANSC1	54682	broad.mit.edu	37	12	12483126	12483126	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:12483126G>A	ENST00000535902.1	-	4	1694	c.1131C>T	c.(1129-1131)taC>taT	p.Y377Y	MANSC1_ENST00000396349.3_Silent_p.Y343Y|MANSC1_ENST00000545735.1_Silent_p.Y296Y			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	377						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		ATGGAAGGCCGTACTGATTTT	0.512000													9	108					0	0	1	0	0
TKT	7086	broad.mit.edu	37	3	53265455	53265455	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:53265455G>A	ENST00000462138.1	-	7	948	c.860C>T	c.(859-861)aCc>aTc	p.T287I	TKT_ENST00000423525.2_Missense_Mutation_p.T287I|TKT_ENST00000296289.6_Missense_Mutation_p.T240I|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.T295I			P29401	TKT_HUMAN	transketolase	287					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)	CTGTGGAGGGGTTGCCAGGAT	0.557000													13	67					0	0	1	0	0
EPB41L2	2037	broad.mit.edu	37	6	131222107	131222107	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:131222107G>A	ENST00000337057.3	-	7	1324	c.1143C>T	c.(1141-1143)acC>acT	p.T381T	EPB41L2_ENST00000528282.1_Silent_p.T381T|EPB41L2_ENST00000525193.1_Silent_p.T381T|EPB41L2_ENST00000530481.1_Silent_p.T381T|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000525271.1_Silent_p.T381T|EPB41L2_ENST00000527411.1_Silent_p.T381T|EPB41L2_ENST00000368128.2_Silent_p.T381T|EPB41L2_ENST00000529208.1_Silent_p.T381T|EPB41L2_ENST00000445890.2_Silent_p.T381T|EPB41L2_ENST00000527659.1_Silent_p.T381T|EPB41L2_ENST00000392427.3_Silent_p.T381T	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	381	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CAGACCTGTGGGTTTTGTGCA	0.468000													22	185					0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	71015355	71015355	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:71015355G>A	ENST00000393567.2	-	29	4599	c.4449C>T	c.(4447-4449)atC>atT	p.I1483I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1483										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)				CGCTCAGAGTGATATTTTCTG	0.483000													12	96					0	0	1	0	0
AVP	551	broad.mit.edu	37	20	3065271	3065271	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:3065271G>A	ENST00000380293.3	-	1	99	c.50C>T	c.(49-51)tCc>tTc	p.S17F		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	17			S -> F (in ADNDI).		cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		GCACGCGGAGGAGAAGGCCAG	0.637000													12	176					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	122013722	122013722	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:122013722G>A	ENST00000377069.4	-	3	627	c.221C>T	c.(220-222)cCc>cTc	p.P74L	KDM2B_ENST00000377071.4_Missense_Mutation_p.P105L|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000538046.2_Missense_Mutation_p.P105L	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	105					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						AAATATCAGGGGAACCCTGAG	0.413000													6	105					0	0	1	0	0
DUSP4	1846	broad.mit.edu	37	8	29197691	29197691	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:29197691G>A	ENST00000240100.2	-	2	892	c.503C>T	c.(502-504)cCa>cTa	p.P168L	DUSP4_ENST00000240101.2_Missense_Mutation_p.P77L	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	168					endoderm formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		AACCGGGGGTGGGATGGCTGC	0.597000											OREG0018686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	26					0	0	1	0	0
PDCD2L	84306	broad.mit.edu	37	19	34900345	34900345	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:34900345C>T	ENST00000246535.3	+	4	663	c.616C>T	c.(616-618)Cat>Tat	p.H206Y	PDCD2L_ENST00000587065.2_Intron	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	206						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CAACCTGGATCATGCCCACAG	0.547000													8	102					0	0	1	0	0
C10orf2	56652	broad.mit.edu	37	10	102748263	102748263	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:102748263C>T	ENST00000370228.1	+	1	481	c.296C>T	c.(295-297)tCc>tTc	p.S99F	C10orf2_ENST00000311916.2_Missense_Mutation_p.S99F|C10orf2_ENST00000473656.1_Intron	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	99					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GTTACCACTTCCTTCAGCCTC	0.582000													18	167					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152466568	152466568	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:152466568C>T	ENST00000427231.2	-	81	12287	c.12085G>A	c.(12085-12087)Gat>Aat	p.D4029N	NEB_ENST00000409198.1_Missense_Mutation_p.D3786N|NEB_ENST00000604864.1_Missense_Mutation_p.D4029N|NEB_ENST00000172853.10_Missense_Mutation_p.D3786N|NEB_ENST00000603639.1_Missense_Mutation_p.D4029N|NEB_ENST00000397345.3_Missense_Mutation_p.D4029N	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	4028					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	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)		ATCTTGGGATCATCTTCAATG	0.423000													13	58					0	0	1	0	0
NLRP9	338321	broad.mit.edu	37	19	56220293	56220293	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:56220293C>T	ENST00000332836.2	-	9	2988	c.2961G>A	c.(2959-2961)agG>agA	p.R987R	CTD-2611O12.8_ENST00000596293.1_RNA	NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	987						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)		GGAGCACACCCCTGATCTTGT	0.478000													8	96					0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40055854	40055854	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:40055854G>A	ENST00000336649.4	+	17	2619	c.2619G>A	c.(2617-2619)gcG>gcA	p.A873A	CACNA1I_ENST00000404898.1_Silent_p.A832A|CACNA1I_ENST00000407673.1_Silent_p.A832A|CACNA1I_ENST00000401624.1_Silent_p.A867A|CACNA1I_ENST00000402142.3_Silent_p.A867A|CACNA1I_ENST00000400164.3_Silent_p.A832A			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	867					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)	GCTTCCAGGCGGAGGTGACTG	0.612000													6	59					0	0	1	0	0
CYYR1	116159	broad.mit.edu	37	21	27840826	27840826	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr21:27840826C>T	ENST00000299340.4	-	4	802	c.459G>A	c.(457-459)agG>agA	p.R153R	AP001596.6_ENST00000421771.1_RNA|AP001596.6_ENST00000429340.1_RNA|AP001597.1_ENST00000357401.3_RNA|AP001597.1_ENST00000414486.1_RNA|CYYR1_ENST00000435845.2_3'UTR|AP001596.6_ENST00000444306.1_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	153						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						TAGATTATTTCCTTGCGTTTC	0.512000													18	72					0	0	1	0	0
CATSPERD	257062	broad.mit.edu	37	19	5778504	5778504	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:5778504G>A	ENST00000381624.3	+	22	2275	c.2214G>A	c.(2212-2214)tgG>tgA	p.W738*	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	TM146_HUMAN	catsper channel auxiliary subunit delta	738						integral to membrane											GGTCCGTTTGGCTGGCCTACA	0.572000													12	66					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28968349	28968349	+	Missense_Mutation	SNP	C	C	T	rs36040686	byFrequency	TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:28968349C>T	ENST00000359747.4	+	4	265	c.236C>T	c.(235-237)tCg>tTg	p.S79L	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.S79L|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	79	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GACTGCGAATCGAACCAGAAG	0.418000													6	40					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585754	7585754	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:7585754G>A	ENST00000379802.3	+	24	8600	c.8259G>A	c.(8257-8259)aaG>aaA	p.K2753K	DSP_ENST00000418664.2_Silent_p.K2154K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2753	Globular 2.				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)		CCATCCGGAAGGGGTTCATAG	0.542000													22	190					0	0	1	0	0
OR4M2	390538	broad.mit.edu	37	15	22368758	22368758	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:22368758C>T	ENST00000332663.2	+	1	281	c.183C>T	c.(181-183)ttC>ttT	p.F61F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	61					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)		CTATGTATTTCCTGTTGGCTA	0.388000													61	985					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163693078	163693078	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:163693078C>T	ENST00000332142.5	-	2	375	c.276G>A	c.(274-276)agG>agA	p.R92R	KCNH7_ENST00000328032.4_Silent_p.R92R	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	92	PAC.				regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	CCTCCACTTTCCTCTCTTCTG	0.418000													9	41					0	0	1	0	0
GRN	2896	broad.mit.edu	37	17	42429429	42429429	+	Missense_Mutation	SNP	C	C	G	rs63750419		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:42429429C>G	ENST00000053867.3	+	11	1288	c.1226C>G	c.(1225-1227)aCg>aGg	p.T409R	GRN_ENST00000589265.1_Missense_Mutation_p.T252R	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	409					signal transduction	extracellular space	cytokine activity|growth factor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CAGGGCTACACGTGTGTAGCT	0.642000													6	88					0	0	1	0	0
OC90	729330	broad.mit.edu	37	8	133053897	133053897	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:133053897G>A	ENST00000262283.5	-	8	906	c.807C>T	c.(805-807)ttC>ttT	p.F269F	OC90_ENST00000254627.3_Silent_p.F73F|OC90_ENST00000603859.1_Silent_p.F73F|OC90_ENST00000443356.2_Silent_p.F73F			Q02509	OC90_HUMAN	otoconin 90	73					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			TCAGCACAGGGAAATTGGTGA	0.557000													10	30					0	0	1	0	0
PARP4	143	broad.mit.edu	37	13	25027758	25027758	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr13:25027758G>A	ENST00000381989.3	-	23	2898	c.2793C>T	c.(2791-2793)atC>atT	p.I931I		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	931	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			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)		TATTGCTTGTGATATGCTTAG	0.463000													11	86					0	0	1	0	0
COG3	83548	broad.mit.edu	37	13	46060684	46060684	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr13:46060684T>A	ENST00000349995.5	+	8	1010	c.898T>A	c.(898-900)Ttt>Att	p.F300I		NM_031431.3	NP_113619.2	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	300					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		TTATGTGAAATTTCGAGCTGC	0.383000													8	105					0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193052747	193052747	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:193052747C>T	ENST00000342358.4	-	10	1202	c.1085G>A	c.(1084-1086)gGg>gAg	p.G362E		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	362					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)		TCGTACAGGCCCCTGCCCAGA	0.443000													14	109					0	0	1	0	0
STYK1	55359	broad.mit.edu	37	12	10783684	10783684	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:10783684G>A	ENST00000075503.3	-	5	931	c.411C>T	c.(409-411)gaC>gaT	p.D137D		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	137	Protein kinase.					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						GCTTAGAAGGGTCCCCAGTGT	0.483000										HNSCC(73;0.22)			15	85					0	0	1	0	0
SNX20	124460	broad.mit.edu	37	16	50711342	50711342	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:50711342G>A	ENST00000300590.3	-	2	268	c.96C>T	c.(94-96)ccC>ccT	p.P32P	SNX20_ENST00000330943.4_Silent_p.P32P|SNX20_ENST00000423026.2_Silent_p.P32P	NM_153337.2	NP_699168.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	32					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GCGGGAGGTCGGGGCCAGTGG	0.622000													7	91					0	0	1	0	0
DNAH9	1770	broad.mit.edu	37	17	11554575	11554575	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:11554575G>A	ENST00000262442.3	+	13	2355	c.2287G>A	c.(2287-2289)Gaa>Aaa	p.E763K	DNAH9_ENST00000454412.2_Missense_Mutation_p.E763K	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	763	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)		ATTAGTGGAGGAAGAGCTGCA	0.438000													10	102					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61830336	61830336	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:61830336G>A	ENST00000280772.1	-	37	10494	c.10303C>T	c.(10303-10305)Cca>Tca	p.P3435S	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3435					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						GCTTGAATTGGGAGTTTAGAA	0.438000													10	92					0	0	1	0	0
HOXA6	3203	broad.mit.edu	37	7	27185469	27185469	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:27185469C>T	ENST00000222728.3	-	2	534	c.510G>A	c.(508-510)ctG>ctA	p.L170L	HOXA6_ENST00000521478.1_5'UTR|HOXA-AS3_ENST00000521197.1_RNA|HOXA3_ENST00000467897.2_Intron|HOXA-AS3_ENST00000518848.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	170						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						ACTCCTTCTCCAGCTCCAGTG	0.647000													26	201					0	0	1	0	0
ZNF7	7553	broad.mit.edu	37	8	146067427	146067427	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:146067427G>A	ENST00000528372.1	+	5	1175	c.935G>A	c.(934-936)gGa>gAa	p.G312E	ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000446747.2_Missense_Mutation_p.G323E|ZNF7_ENST00000325241.6_Missense_Mutation_p.G312E|ZNF7_ENST00000544249.1_Missense_Mutation_p.G216E			P17097	ZNF7_HUMAN	zinc finger protein 7	312					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GAGGAATGTGGAAAAGCTTTT	0.498000													24	112					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121786353	121786353	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:121786353C>T	ENST00000261367.7	+	12	3380	c.1952C>T	c.(1951-1953)tCc>tTc	p.S651F	SNCAIP_ENST00000379536.2_Missense_Mutation_p.S544F|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|CTC-210G5.1_ENST00000506053.1_RNA|CTC-210G5.1_ENST00000503529.1_RNA|SNCAIP_ENST00000414317.2_Missense_Mutation_p.S206F|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000505546.1_RNA|SNCAIP_ENST00000261368.8_Missense_Mutation_p.S604F|SNCAIP_ENST00000379533.2_Missense_Mutation_p.S651F|SNCAIP_ENST00000379538.3_Missense_Mutation_p.S238F|SNCAIP_ENST00000542191.1_Missense_Mutation_p.S162F|CTC-210G5.1_ENST00000509993.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	604					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CTGTCAGCCTCCAGCCGGGCT	0.463000													7	120					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887588	12887588	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:12887588C>T	ENST00000535591.1	-	3	464	c.269G>A	c.(268-270)aGg>aAg	p.R90K		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	90										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TGTTTTGTTCCTCTTGGCATT	0.478000													42	548					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53844129	53844129	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:53844129C>T	ENST00000288139.3	+	48	6174	c.6056C>T	c.(6055-6057)cCc>cTc	p.P2019L	CACNA1D_ENST00000350061.5_Missense_Mutation_p.P1999L|CACNA1D_ENST00000422281.2_Missense_Mutation_p.P1975L|CACNA1D_ENST00000544977.1_3'UTR	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1999					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGCTACACCCCCCTGATCCAA	0.642000													10	86					0	0	1	0	0
RGS22	26166	broad.mit.edu	37	8	101065094	101065094	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:101065094G>A	ENST00000360863.6	-	10	1819	c.1625C>T	c.(1624-1626)cCa>cTa	p.P542L	RGS22_ENST00000523437.1_Missense_Mutation_p.P530L|RGS22_ENST00000523287.1_Missense_Mutation_p.P361L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	542					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGCCATTTGTGGAAAAGGGTC	0.433000													39	150					0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38946001	38946001	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:38946001G>A	ENST00000355481.4	+	14	1698	c.1567G>A	c.(1567-1569)Gaa>Aaa	p.E523K	RYR1_ENST00000359596.3_Missense_Mutation_p.E523K|RYR1_ENST00000360985.3_Missense_Mutation_p.E523K	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	523					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|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)	TCTTCTCTATGAACTCCTAGG	0.537000													23	86					0	0	1	0	0
KIAA0247	9766	broad.mit.edu	37	14	70175426	70175426	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:70175426C>T	ENST00000342745.4	+	5	804	c.491C>T	c.(490-492)tCc>tTc	p.S164F		NM_014734.3	NP_055549.1	Q92537	K0247_HUMAN	KIAA0247	164						integral to membrane				endometrium(1)|kidney(1)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)	10				all cancers(60;0.00155)|BRCA - Breast invasive adenocarcinoma(234;0.0164)|OV - Ovarian serous cystadenocarcinoma(108;0.0196)		GACCAGGTCTCCATCATGGTG	0.507000													5	96					0	0	1	0	0
FAM49A	81553	broad.mit.edu	37	2	16746976	16746976	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:16746976C>T	ENST00000381323.3	-	4	350	c.130G>A	c.(130-132)Gat>Aat	p.D44N	FAM49A_ENST00000355549.2_Missense_Mutation_p.D44N|FAM49A_ENST00000406434.1_Missense_Mutation_p.D44N	NM_030797.3	NP_110424.1	Q9H0Q0	FA49A_HUMAN	family with sequence similarity 49, member A	44						intracellular				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.0734)|all_hematologic(175;0.088)		GBM - Glioblastoma multiforme(3;0.00969)			CTCTCAGAATCCTGAAGGACG	0.517000													23	92					0	0	1	0	0
FAM131B	9715	broad.mit.edu	37	7	143054116	143054116	+	Splice_Site	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:143054116C>T	ENST00000409408.1	-	6	2235		c.e6-1		FAM131B_ENST00000409222.3_Splice_Site|FAM131B_ENST00000443739.2_Splice_Site|FAM131B_ENST00000409346.1_Splice_Site|FAM131B_ENST00000409578.1_Splice_Site			Q86XD5	F131B_HUMAN	family with sequence similarity 131, member B											breast(1)|endometrium(4)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24	Melanoma(164;0.205)					GCCAGGGCATCTGGAAAAAGA	0.542000													5	69					0	0	1	0	0
PTGIS	5740	broad.mit.edu	37	20	48160850	48160850	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:48160850G>A	ENST00000244043.4	-	4	542	c.513C>T	c.(511-513)ttC>ttT	p.F171F	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	171			F -> L (in dbSNP:rs5624).		hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	ACCTGAGCAGGAAGCTGTAGG	0.602000													12	79					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168101495	168101495	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:168101495C>T	ENST00000409195.1	+	9	3682	c.3593C>T	c.(3592-3594)tCc>tTc	p.S1198F	XIRP2_ENST00000295237.9_Missense_Mutation_p.S1198F|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.S976F|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1023					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						GGAGATGTTTCCAGCATGAGG	0.333000													8	83					0	0	1	0	0
CLDN11	5010	broad.mit.edu	37	3	170150390	170150390	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:170150390C>T	ENST00000064724.3	+	3	672	c.470C>T	c.(469-471)tCc>tTc	p.S157F	CLDN11_ENST00000489485.1_3'UTR|CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	157					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TTTGGCTACTCCCTGTATGCA	0.602000													17	137					0	0	1	0	0
PRB4	5545	broad.mit.edu	37	12	11461597	11461597	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:11461597C>T	ENST00000279575.1	-	3	353	c.320G>A	c.(319-321)gGa>gAa	p.G107E	PRB4_ENST00000535904.1_Missense_Mutation_p.G107E|PRB4_ENST00000445719.2_Missense_Mutation_p.G107E	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	149	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.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						GGACTGGTTTCCTCCTTGTGG	0.612000										HNSCC(22;0.051)			29	477					0	0	1	0	0
DOPEY2	9980	broad.mit.edu	37	21	37605229	37605229	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr21:37605229C>T	ENST00000399151.3	+	15	2563	c.2478C>T	c.(2476-2478)tcC>tcT	p.S826S		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	826					endoplasmic reticulum organization|Golgi to endosome transport|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						ATTCCCAGTCCCTGGCGCTTG	0.502000													9	104					0	0	1	0	0
LRP4	4038	broad.mit.edu	37	11	46911083	46911083	+	Splice_Site	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:46911083C>T	ENST00000378623.1	-	16	2336	c.2092_splice	c.e16-1	p.G698_splice		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	698	EGF-like 3.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|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)		AGCGGTTTTTCCCTGCTCAAA	0.567000											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	91					0	0	1	0	0
RGS3	5998	broad.mit.edu	37	9	116345889	116345889	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:116345889G>A	ENST00000374140.2	+	21	2406	c.2197G>A	c.(2197-2199)Gaa>Aaa	p.E733K	RGS3_ENST00000350696.5_Missense_Mutation_p.E733K|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000394646.3_Intron|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000343817.5_Missense_Mutation_p.E452K|RGS3_ENST00000462143.1_Missense_Mutation_p.E54K|RGS3_ENST00000374134.3_Missense_Mutation_p.E54K	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	733	Pro-rich.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TTCTGGGCAGGAACCCGCTCC	0.622000													12	110					0	0	1	0	0
ZNF135	7694	broad.mit.edu	37	19	58579076	58579076	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:58579076G>A	ENST00000506786.1	+	5	1652	c.1098G>A	c.(1096-1098)aaG>aaA	p.K366K	ZNF135_ENST00000439855.2_Silent_p.K408K|ZNF135_ENST00000401053.4_Silent_p.K432K|ZNF135_ENST00000359978.6_Intron|ZNF135_ENST00000313434.5_Silent_p.K408K|ZNF135_ENST00000511556.1_Silent_p.K420K			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	420					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)		CAGGAGAAAAGCCCTATGAGT	0.547000													8	88					0	0	1	0	0
SYNPO2	171024	broad.mit.edu	37	4	119944594	119944594	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:119944594C>T	ENST00000307142.4	+	2	311	c.115C>T	c.(115-117)Cag>Tag	p.Q39*	SYNPO2_ENST00000448416.2_Nonsense_Mutation_p.Q39*|SYNPO2_ENST00000429713.2_Nonsense_Mutation_p.Q39*|SYNPO2_ENST00000434046.2_Nonsense_Mutation_p.Q39*	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	39	PDZ.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GATTCGAAATCAGAGCAAAGC	0.423000													10	65					0	0	1	0	0
C6	729	broad.mit.edu	37	5	41154099	41154099	+	Splice_Site	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:41154099C>T	ENST00000263413.3	-	15	2367	c.2101_splice	c.e15-1	p.R701_splice	C6_ENST00000337836.5_Splice_Site_p.R701_splice	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	701	C5b-binding domain.|Sushi 1.				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)				TGCACTCCGTCCCTGCAAGAG	0.393000													7	59					0	0	1	0	0
WDR88	126248	broad.mit.edu	37	19	33623343	33623343	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:33623343C>T	ENST00000361680.2	+	1	346	c.268C>T	c.(268-270)Ctc>Ttc	p.L90F	WDR88_ENST00000592765.1_Missense_Mutation_p.L90F|WDR88_ENST00000355868.3_Missense_Mutation_p.L90F			Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	90										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					CCAGGACCCTCTCTCCAAGGT	0.652000													14	45					0	0	1	0	0
MOXD1	26002	broad.mit.edu	37	6	132618414	132618414	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:132618414A>T	ENST00000367963.3	-	12	1838	c.1720T>A	c.(1720-1722)Tat>Aat	p.Y574N	MOXD1_ENST00000336749.3_Missense_Mutation_p.Y506N	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	574					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		TCTGCTTTATAGGGTCTTTCT	0.438000													9	139					0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55286852	55286852	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:55286852C>T	ENST00000336077.6	+	4	646	c.606C>T	c.(604-606)ttC>ttT	p.F202F	KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Silent_p.F202F	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	202	Ig-like C2-type 2.				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)		TCGGCTCTTTCCATGACTCTC	0.557000													30	301					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241705143	241705143	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:241705143G>A	ENST00000498729.2	-	20	1998	c.1752C>T	c.(1750-1752)ccC>ccT	p.P584P	KIF1A_ENST00000320389.7_Silent_p.P575P	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	575					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GCAGGATGCTGGGCTCTGTGA	0.622000													5	34					0	0	1	0	0
FURIN	5045	broad.mit.edu	37	15	91421424	91421424	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:91421424C>T	ENST00000268171.3	+	8	1009	c.730C>T	c.(730-732)Ccc>Tcc	p.P244S		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	244					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|Notch 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	cell surface|Golgi lumen|Golgi membrane|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)			GGGCCTGAACCCCAACCACAT	0.662000													11	87					0	0	1	0	0
TRIP13	9319	broad.mit.edu	37	5	917203	917203	+	Silent	SNP	T	T	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:917203T>C	ENST00000166345.3	+	13	1640	c.1284T>C	c.(1282-1284)ctT>ctC	p.L428L	TRIP13_ENST00000510412.1_3'UTR	NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	428					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)			GAAAGAAGCTTGCAGCTTACA	0.552000													13	44					0	0	1	0	0
PDILT	204474	broad.mit.edu	37	16	20384174	20384174	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:20384174C>T	ENST00000302451.4	-	7	1116	c.868G>A	c.(868-870)Ggt>Agt	p.G290S		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	290					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						ATTATGATACCATATGACTCG	0.423000													18	106					0	0	1	0	0
TESPA1	9840	broad.mit.edu	37	12	55357630	55357630	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:55357630C>T	ENST00000524622.1	-	6	798	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	TESPA1_ENST00000524959.1_5'UTR|TESPA1_ENST00000532804.1_Missense_Mutation_p.R46Q|TESPA1_ENST00000449076.1_Missense_Mutation_p.R184Q|TESPA1_ENST00000316577.8_Missense_Mutation_p.R184Q|TESPA1_ENST00000531122.1_Missense_Mutation_p.R46Q	NM_001261844.1|NM_014796.2	NP_001248773.1|NP_055611.1	A2RU30	K0748_HUMAN	thymocyte expressed, positive selection associated 1	184								p.R46Q(1)|p.R184Q(1)									GGTGAAAAATCGGGCGGGTAT	0.517000													7	94					0	0	1	0	0
DOC2A	8448	broad.mit.edu	37	16	30018571	30018571	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:30018571C>T	ENST00000350119.4	-	6	767	c.577G>A	c.(577-579)Gag>Aag	p.E193K	DOC2A_ENST00000564979.1_Missense_Mutation_p.E193K|DOC2A_ENST00000564944.1_Missense_Mutation_p.E193K	NM_003586.2	NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	193	C2 1.				nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						ACGCGGATCTCCCCAATAAAC	0.622000													14	91					0	0	1	0	0
ALDOA	226	broad.mit.edu	37	16	30080251	30080251	+	Silent	SNP	C	C	T	rs11553120		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:30080251C>T	ENST00000566897.1	+	8	1644	c.492C>T	c.(490-492)atC>atT	p.I164I	ALDOA_ENST00000569545.1_Silent_p.I164I|ALDOA_ENST00000395248.1_Silent_p.I218I|ALDOA_ENST00000563060.2_Silent_p.I164I|ALDOA_ENST00000569798.1_Silent_p.I164I|ALDOA_ENST00000412304.2_Silent_p.I164I|ALDOA_ENST00000395240.3_Silent_p.I164I|ALDOA_ENST00000564595.2_Silent_p.I218I|ALDOA_ENST00000338110.5_Silent_p.I164I|ALDOA_ENST00000564546.1_Silent_p.I164I			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	164					actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CCCTCGCCATCATGGAAAATG	0.562000											OREG0023729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	27	91					0	0	1	0	0
CNKSR1	10256	broad.mit.edu	37	1	26510622	26510622	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:26510622C>T	ENST00000531191.1	+	9	1149	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L	CNKSR1_ENST00000374253.5_Silent_p.L313L|CNKSR1_ENST00000361530.6_Silent_p.L306L			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	313	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGCCCCACTGTCTCCCAG	0.627000													12	100					0	0	1	0	0
GDF15	9518	broad.mit.edu	37	19	18497277	18497277	+	Splice_Site	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:18497277G>A	ENST00000595973.1	+	2	828		c.e2+1		GDF15_ENST00000252809.3_Splice_Site			Q99988	GDF15_HUMAN	growth differentiation factor 15						cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						ACGCCAGAAGGTAAGTGAAAT	0.567000													4	31					0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60923683	60923683	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:60923683G>A	ENST00000321731.3	-	15	1469	c.1310C>T	c.(1309-1311)cCt>cTt	p.P437L		NM_174978.2	NP_777638.2	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	437										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CAATGACTCAGGTGCTTTCAC	0.333000													29	165					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172643136	172643136	+	Splice_Site	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:172643136C>T	ENST00000351008.3	-	7	1411	c.1228_splice	c.e7+1	p.E410_splice		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	410					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)			GATGATTTACCTGTGAATATC	0.363000													7	48					0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113657300	113657300	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:113657300C>T	ENST00000361127.4	+	15	2530	c.2332C>T	c.(2332-2334)Cac>Tac	p.H778Y	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	778	Ig-like C2-type 3.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AGAACGTGGCCACATTTACCT	0.468000													13	158					0	0	1	0	0
PCDHB11	56125	broad.mit.edu	37	5	140579922	140579922	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140579922C>T	ENST00000354757.3	+	1	575	c.575C>T	c.(574-576)cCc>cTc	p.P192L	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		192	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)			AGGAAATACCCCGAGTTAGTT	0.458000													9	132					0	0	1	0	0
APOBR	55911	broad.mit.edu	37	16	28507568	28507568	+	Silent	SNP	T	T	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:28507568T>C	ENST00000564831.1	+	2	1239	c.1206T>C	c.(1204-1206)gcT>gcC	p.A402A	APOBR_ENST00000431282.1_Silent_p.A393A|APOBR_ENST00000328423.5_Silent_p.A393A	NM_018690.3	NP_061160.3	Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	393	Glu-rich.				cholesterol metabolic process|lipid transport	chylomicron|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						TCCTAGAGGCTACTGGAAAAG	0.582000													6	47					0	0	1	0	0
ABCA9	10350	broad.mit.edu	37	17	66992073	66992073	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:66992073G>A	ENST00000340001.4	-	26	3729	c.3518C>T	c.(3517-3519)cCc>cTc	p.P1173L	ABCA9_ENST00000453985.2_Missense_Mutation_p.P1135L|ABCA9_ENST00000370732.2_Missense_Mutation_p.P1173L	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1173					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CAATGTGAAGGGAGGTATTAA	0.383000													5	81					0	0	1	0	0
GEM	2669	broad.mit.edu	37	8	95265325	95265325	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:95265325C>T	ENST00000297596.2	-	3	611	c.347G>A	c.(346-348)cGa>cAa	p.R116Q	GEM_ENST00000396194.2_Missense_Mutation_p.R116Q	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	116					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|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													19	116					0	0	1	0	0
TRAV8-7	28679	broad.mit.edu	37	14	22600910	22600910	+	RNA	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:22600910G>A	ENST00000390456.3	+	0	255																											CTGAATTTAAGAAGAGCGAAA	0.502000													6	51					0	0	1	0	0
TIMP1	7076	broad.mit.edu	37	X	47444666	47444666	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:47444666C>T	ENST00000377018.2	+	3	599	c.35C>T	c.(34-36)cCa>cTa	p.P12L	SYN1_ENST00000340666.4_Intron|TIMP1_ENST00000218388.4_Silent_p.A88A|SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000377017.1_Silent_p.A24A|TIMP1_ENST00000456754.2_Silent_p.A88A			P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1	0					erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(1)|large_intestine(2)	3						ACACCCCCGCCATGGAGAGTG	0.567000													6	17					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72678741	72678741	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:72678741G>A	ENST00000264839.7	+	2	220	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	RIMS1_ENST00000517960.1_Missense_Mutation_p.E74K|RIMS1_ENST00000348717.5_Missense_Mutation_p.E74K|RIMS1_ENST00000520567.1_Missense_Mutation_p.E74K|RIMS1_ENST00000522291.1_Missense_Mutation_p.E74K|RIMS1_ENST00000491071.2_Missense_Mutation_p.E74K|RIMS1_ENST00000521978.1_Missense_Mutation_p.E74K|RIMS1_ENST00000518273.1_Missense_Mutation_p.E74K			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	74	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AAGAAATGCTGAAAACCAGCC	0.438000													10	103					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110587950	110587950	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:110587950G>A	ENST00000399066.3	-	6	1895	c.1168C>T	c.(1168-1170)Cca>Tca	p.P390S	SYBU_ENST00000528647.1_Missense_Mutation_p.P392S|SYBU_ENST00000533065.1_Missense_Mutation_p.P274S|SYBU_ENST00000419099.1_Missense_Mutation_p.P392S|SYBU_ENST00000528331.1_Missense_Mutation_p.P274S|SYBU_ENST00000529690.1_Missense_Mutation_p.P263S|SYBU_ENST00000532779.1_Missense_Mutation_p.P325S|SYBU_ENST00000422135.1_Missense_Mutation_p.P393S|SYBU_ENST00000446070.2_Missense_Mutation_p.P392S|SYBU_ENST00000433638.1_Missense_Mutation_p.P393S|SYBU_ENST00000529175.1_Missense_Mutation_p.P187S|SYBU_ENST00000424158.2_Missense_Mutation_p.P398S|SYBU_ENST00000533895.1_Missense_Mutation_p.P392S|SYBU_ENST00000408908.2_Missense_Mutation_p.P393S|SYBU_ENST00000276646.9_Missense_Mutation_p.P393S|SYBU_ENST00000440310.1_Missense_Mutation_p.P393S|SYBU_ENST00000408889.3_Missense_Mutation_p.P274S|SYBU_ENST00000533171.1_Missense_Mutation_p.P393S	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	393	Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|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						GAATCACATGGAAAGTCTAGG	0.522000													5	85					0	0	1	0	0
IFIT1B	439996	broad.mit.edu	37	10	91144316	91144316	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:91144316G>A	ENST00000371809.3	+	2	1326	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	416							binding			endometrium(2)|large_intestine(3)|lung(8)	13						CCATTCCAGGGAAAAACTTCT	0.383000													8	137					0	0	1	0	0
TFAP2C	7022	broad.mit.edu	37	20	55211768	55211768	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:55211768G>A	ENST00000201031.2	+	6	1268	c.1025G>A	c.(1024-1026)cGa>cAa	p.R342Q	TFAP2C_ENST00000544508.1_Missense_Mutation_p.R173Q	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	342	H-S-H (helix-span-helix), dimerization.				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			CTTGGAGGACGAAATGAGATG	0.443000													15	80					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54804704	54804704	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:54804704C>T	ENST00000306858.7	+	5	1051	c.935C>T	c.(934-936)tCa>tTa	p.S312L		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	312										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)					TCGGTGTCTTCATTAGCATCT	0.413000													12	92					0	0	1	0	0
ZNF559	84527	broad.mit.edu	37	19	9452969	9452969	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:9452969C>T	ENST00000393883.2	+	6	1490	c.842C>T	c.(841-843)tCc>tTc	p.S281F	ZNF559_ENST00000538743.1_Missense_Mutation_p.S201F|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000603380.1_Missense_Mutation_p.S281F|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.S345F|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000592896.1_3'UTR|ZNF559_ENST00000317221.7_3'UTR	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S281F(1)		endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TTTGCTTTTTCCCCAGATCTT	0.333000													10	103					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457719	110457719	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:110457719C>T	ENST00000378402.5	+	38	5725	c.5621C>T	c.(5620-5622)tCc>tTc	p.S1874F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1874	IPT/TIG 11.				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)			CAAATTATTTCCATCAACCCC	0.448000										HNSCC(38;0.096)			17	50					0	0	1	0	0
USP28	57646	broad.mit.edu	37	11	113675655	113675655	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:113675655G>A	ENST00000003302.4	-	20	2582	c.2514C>T	c.(2512-2514)ccC>ccT	p.P838P	USP28_ENST00000260188.5_Silent_p.P806P|USP28_ENST00000544967.1_Silent_p.P514P|USP28_ENST00000545540.1_Silent_p.P681P	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	838					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTACCCTTTTGGGTGCTTCAT	0.438000													7	51					0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	20999054	20999054	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:20999054C>T	ENST00000261383.3	-	46	6842	c.6843G>A	c.(6841-6843)gtG>gtA	p.V2281V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2281	AAA 3 (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)		CCCCTTGAATCACTCGTGAGA	0.463000													13	67					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100235037	100235037	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:100235037C>T	ENST00000305046.8	-	6	836	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	ADH1B_ENST00000394887.3_Missense_Mutation_p.E217K			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	257					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	TCAGTCATTTCCTTTAGCACT	0.463000													26	306					0	0	1	0	0
STAG1	10274	broad.mit.edu	37	3	136170906	136170906	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:136170906C>T	ENST00000383202.2	-	14	1653	c.1397G>A	c.(1396-1398)aGg>aAg	p.R466K	STAG1_ENST00000536929.1_Missense_Mutation_p.R50K|STAG1_ENST00000236698.5_Missense_Mutation_p.R466K|STAG1_ENST00000434713.2_Missense_Mutation_p.R240K	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	466					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AACCAGCATCCTAATGAGGTT	0.333000													7	65					0	0	1	0	0
ZNF443	10224	broad.mit.edu	37	19	12541954	12541954	+	Silent	SNP	T	T	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:12541954T>C	ENST00000301547.5	-	4	1229	c.1032A>G	c.(1030-1032)aaA>aaG	p.K344K	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806.2	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	344					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						GATGAAACGCTTTCCCACATT	0.433000													55	278					0	0	1	0	0
TREM1	54210	broad.mit.edu	37	6	41248885	41248885	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:41248885G>A	ENST00000591620.1	-	3	439	c.413C>T	c.(412-414)tCa>tTa	p.S138L	TREM1_ENST00000334475.6_Intron|TREM1_ENST00000589614.1_Missense_Mutation_p.S138L|TREM1_ENST00000244709.4_Missense_Mutation_p.S138L	NM_001242589.1	NP_001229518.1	Q9NP99	TREM1_HUMAN	triggering receptor expressed on myeloid cells 1	138					blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	AGGGGTCCCTGAAAAACCTGC	0.473000													7	56					0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55196536	55196536	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:55196536G>A	ENST00000340465.2	+	2	132	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	16						integral to membrane	receptor activity	p.E16Q(1)		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)			CTTGGAAAATGAATACACTTC	0.333000													5	44					0	0	1	0	0
ITM2A	9452	broad.mit.edu	37	X	78616621	78616621	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:78616621C>T	ENST00000434584.2	-	5	961	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	ITM2A_ENST00000373298.2_Missense_Mutation_p.E253K|ITM2A_ENST00000469541.1_5'UTR	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	253	BRICHOS.					integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						ACAATAAATTCGTTGGGGAAG	0.353000													7	24					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40964861	40964861	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:40964861C>T	ENST00000313164.9	+	14	2127	c.1768C>T	c.(1768-1770)Cct>Tct	p.P590S		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	590	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TACAATGTTTCCTGTGGGGAA	0.373000													12	83					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130963465	130963465	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:130963465G>A	ENST00000261655.4	-	3	257	c.94C>T	c.(94-96)Ctg>Ttg	p.L32L	RIMBP2_ENST00000536002.1_5'UTR|RIMBP2_ENST00000535703.1_5'UTR	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	32						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ACCTTCTGCAGAAGGTCAATT	0.677000													5	78					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38157948	38157948	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:38157948C>T	ENST00000308059.6	+	28	3882	c.3861C>T	c.(3859-3861)atC>atT	p.I1287I	DLEC1_ENST00000346219.3_Silent_p.I1287I|DLEC1_ENST00000452631.2_Silent_p.I1290I			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	1287					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)		CCCCAGACATCCGCCTGGATT	0.607000													4	53					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120876375	120876375	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:120876375C>T	ENST00000273666.6	+	9	1049	c.778C>T	c.(778-780)Cat>Tat	p.H260Y	STXBP5L_ENST00000497029.1_Missense_Mutation_p.H260Y|STXBP5L_ENST00000472879.1_Missense_Mutation_p.H260Y|STXBP5L_ENST00000492541.1_Missense_Mutation_p.H260Y|STXBP5L_ENST00000471454.1_Missense_Mutation_p.H260Y	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	260					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.H260N(1)		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)		TGATTGGCATCATGAGGGCAA	0.373000													7	69					0	0	1	0	0
ADAMTS5	11096	broad.mit.edu	37	21	28296915	28296915	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr21:28296915C>T	ENST00000284987.5	-	8	2371	c.2250G>A	c.(2248-2250)agG>agA	p.R750R	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	750	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CTTCAGGAATCCTCACCACGT	0.428000													26	126					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55451281	55451281	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:55451281C>T	ENST00000446217.1	-	6	1392	c.990G>A	c.(988-990)cgG>cgA	p.R330R	NLRP7_ENST00000448121.2_Silent_p.R302R|NLRP7_ENST00000328092.5_Silent_p.R302R|NLRP7_ENST00000588756.1_Silent_p.R302R|NLRP7_ENST00000340844.2_Silent_p.R302R|NLRP7_ENST00000592784.1_Silent_p.R302R|NLRP7_ENST00000590030.1_Silent_p.R302R			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	302	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTGCCCTGGGCCGCGTGGTGA	0.632000													5	61					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215919360	215919360	+	Missense_Mutation	SNP	C	C	T	rs141700130	by1000genomes	TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:215919360C>T	ENST00000272895.7	-	4	565	c.346G>A	c.(346-348)Gat>Aat	p.D116N		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	116					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)		CTGTCCTTATCCAGGTTGGAT	0.398000													13	162					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11169017	11169017	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:11169017C>T	ENST00000358026.2	+	32	4891	c.4607C>T	c.(4606-4608)cCc>cTc	p.P1536L	SMARCA4_ENST00000450717.3_Missense_Mutation_p.P1473L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.P1470L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.P1504L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.P1474L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.P1471L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.P1504L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.P1474L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.P1473L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1504	Bromo.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|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	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|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)				ATCCGCAAGCCCGTGGACTTC	0.612000			"""F, N, Mis"""		NSCLC								5	54					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215919361	215919361	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:215919361C>T	ENST00000272895.7	-	4	564	c.345G>A	c.(343-345)ctG>ctA	p.L115L		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	115					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)		TGTCCTTATCCAGGTTGGATG	0.398000													15	163					0	0	1	0	0
GABRG3	2567	broad.mit.edu	37	15	27572162	27572162	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:27572162C>T	ENST00000333743.6	+	4	731	c.477C>T	c.(475-477)atC>atT	p.I159I	GABRG3_ENST00000555083.1_Silent_p.I159I	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	159					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		ACGGGAAAATCCTTTACACTT	0.443000													9	38					0	0	1	0	0
MGA	23269	broad.mit.edu	37	15	42034879	42034879	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:42034879C>T	ENST00000219905.7	+	15	4902	c.4721C>T	c.(4720-4722)cCa>cTa	p.P1574L	MGA_ENST00000389936.4_Missense_Mutation_p.P1574L|MGA_ENST00000545763.1_Intron|MGA_ENST00000570161.1_Missense_Mutation_p.P1574L|MGA_ENST00000566586.1_Intron	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1574						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)		AGACCTTCTCCAGTAATGGTC	0.498000													11	50					0	0	1	0	0
ABI3BP	25890	broad.mit.edu	37	3	100569549	100569549	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:100569549G>A	ENST00000471714.1	-	16	1511	c.1402C>T	c.(1402-1404)Cca>Tca	p.P468S	ABI3BP_ENST00000495063.1_Missense_Mutation_p.P468S|ABI3BP_ENST00000284322.5_Missense_Mutation_p.P419S			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	427	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTTTTAGGTGGGATAGAATCC	0.333000													6	69					0	0	1	0	0
IGHA1	3493	broad.mit.edu	37	14	106174844	106174844	+	RNA	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:106174844G>A	ENST00000390547.2	-	0	158																											GGCTGGGTGGGAAGTTTCTGG	0.657000													9	92					0	0	1	0	0
COL5A3	50509	broad.mit.edu	37	19	10112453	10112453	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:10112453C>T	ENST00000264828.3	-	7	1039	c.954G>A	c.(952-954)acG>acA	p.T318T		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	318	Nonhelical region.				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)			CCTCTAGGATCGTGGCATTGA	0.552000											OREG0025228	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	134					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179612035	179612035	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179612035G>A	ENST00000360870.5	-	46	15314	c.15092C>T	c.(15091-15093)cCt>cTt	p.P5031L	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	1135	Ig-like 30.						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)			TTCCCCTAAAGGTGTGGAATA	0.423000													18	97					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83014671	83014671	+	Missense_Mutation	SNP	C	C	T	rs145707650		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:83014671C>T	ENST00000307792.3	-	16	2281	c.1814G>A	c.(1813-1815)cGa>cAa	p.R605Q	SEMA3E_ENST00000427262.1_Missense_Mutation_p.R545Q	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	605	Ig-like C2-type.				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)				TTGTAAAGATCGTGGGGTACA	0.398000													7	171					0	0	1	0	0
MDH1B	130752	broad.mit.edu	37	2	207615732	207615732	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:207615732C>G	ENST00000374412.3	-	6	1253	c.978G>C	c.(976-978)agG>agC	p.R326S	MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.R326S|MDH1B_ENST00000449792.1_Missense_Mutation_p.R228S	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	326					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		ATCTGTACACCCTTGTTTTTC	0.338000													6	77					0	0	1	0	0
CENPQ	55166	broad.mit.edu	37	6	49448694	49448694	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:49448694C>T	ENST00000335783.3	+	6	472	c.378C>T	c.(376-378)gtC>gtT	p.V126V		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	126					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					CTCTGAAAGTCCCTCCCAAAA	0.323000													5	54					0	0	1	0	0
TRBV6-6	28601	broad.mit.edu	37	7	142162012	142162012	+	RNA	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:142162012G>A	ENST00000390371.3	-	0	306																											CTCTGTGGTTGATCTGGAGAC	0.512000													63	269					0	0	1	0	0
MACF1	23499	broad.mit.edu	37	1	39798746	39798746	+	Silent	SNP	T	T	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:39798746T>C	ENST00000564288.1	+	37	7263	c.6486T>C	c.(6484-6486)ccT>ccC	p.P2162P	MACF1_ENST00000372915.3_Silent_p.P2167P|MACF1_ENST00000567887.1_Silent_p.P2199P|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000289893.4_Silent_p.P602P|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2167					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|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)			AACATCAACCTCTAAGAAACA	0.423000													5	65					0	0	1	0	0
PPARGC1A	10891	broad.mit.edu	37	4	23815931	23815931	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:23815931G>A	ENST00000264867.2	-	8	1294	c.1175C>T	c.(1174-1176)tCc>tTc	p.S392F	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	392					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTCTGTTTTGGAATTAATTGA	0.453000													7	73					0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56757020	56757020	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:56757020G>A	ENST00000326855.2	+	1	674	c.632G>A	c.(631-633)gGg>gAg	p.G211E		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	211					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						ATATTCACTGGGTTGGTCGTC	0.423000													18	224					0	0	1	0	0
CLEC4C	170482	broad.mit.edu	37	12	7883508	7883508	+	Splice_Site	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:7883508C>T	ENST00000542353.1	-	6	872	c.381_splice	c.e6-1	p.D128_splice	CLEC4C_ENST00000360345.3_Splice_Site_p.D128_splice|CLEC4C_ENST00000354629.5_Splice_Site_p.D97_splice|CLEC4C_ENST00000540085.1_Splice_Site_p.D97_splice	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	128	C-type lectin.				innate immune response	integral to membrane	sugar binding			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)		ATGATGAAATCCTGAGGGAAG	0.478000													6	44					0	0	1	0	0
ABCA8	10351	broad.mit.edu	37	17	66915564	66915564	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:66915564G>A	ENST00000269080.2	-	13	1803	c.1666C>T	c.(1666-1668)Ctc>Ttc	p.L556F	ABCA8_ENST00000430352.2_Missense_Mutation_p.L556F|ABCA8_ENST00000586539.1_Missense_Mutation_p.L556F	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	556	ABC transporter 1.					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)					AGCTTGCTGAGATTTTCTAGG	0.368000													14	69					0	0	1	0	0
ATP2C2	9914	broad.mit.edu	37	16	84495333	84495333	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:84495333G>A	ENST00000416219.2	+	26	2671	c.2582G>A	c.(2581-2583)aGa>aAa	p.R861K	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.R832K|RP11-517C16.2_ENST00000565700.1_RNA			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	832					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						CCTGAAGACAGAGCAAGCACT	0.562000													29	236					0	0	1	0	0
POU6F2	11281	broad.mit.edu	37	7	39491254	39491254	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:39491254C>T	ENST00000518318.2	+	8	1398	c.1356C>T	c.(1354-1356)tcC>tcT	p.S452S	POU6F2_ENST00000559001.1_Silent_p.S397S|POU6F2_ENST00000403058.1_Silent_p.S452S			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	452	Ser-rich.				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						cttcttcctcctcatcctcct	0.537000													4	14					0	0	1	0	0
MYH11	4629	broad.mit.edu	37	16	15917242	15917242	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:15917242C>T	ENST00000338282.6	-	3	478	c.372G>A	c.(370-372)gtG>gtA	p.V124V	MYH11_ENST00000396324.3_Silent_p.V124V|MYH11_ENST00000452625.2_Silent_p.V124V|MYH11_ENST00000576790.1_Silent_p.V124V|MYH11_ENST00000300036.5_Silent_p.V124V	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	124	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	actin binding|ATP 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						AGGGGTTGACCACCACGCAGA	0.532000			T	CBFB	AML								14	122					0	0	1	0	0
ST8SIA2	8128	broad.mit.edu	37	15	92987906	92987906	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:92987906G>A	ENST00000268164.3	+	5	826	c.589G>A	c.(589-591)Ggg>Agg	p.G197R	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.G176R	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	197					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CCGGGATGTGGGGCTCAAGAC	0.572000													9	111					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34554592	34554592	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:34554592C>T	ENST00000373381.4	-	2	566	c.390G>A	c.(388-390)gaG>gaA	p.E130E		NM_052896.3	NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	90	CUB 1.					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)				TACGCAGATTCTCTGGCTGGG	0.537000													4	55					0	0	1	0	0
OR5D18	219438	broad.mit.edu	37	11	55587576	55587576	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:55587576C>T	ENST00000333976.4	+	1	491	c.471C>T	c.(469-471)tcC>tcT	p.S157S		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S157S(1)		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)				TCTCATGTTCCTTGGAACTGA	0.468000													17	236					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179477270	179477270	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179477270A>G	ENST00000589042.1	-	266	50206	c.49982T>C	c.(49981-49983)aTt>aCt	p.I16661T	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I7721T|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I7788T|TTN_ENST00000342992.6_Missense_Mutation_p.I14093T|TTN_ENST00000460472.2_Missense_Mutation_p.I7596T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I15020T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15020	Fibronectin type-III 21.						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)			TGTGATATTAATAACTTCAAG	0.398000													3	26					0	0	1	0	0
SCN2A	6326	broad.mit.edu	37	2	166170429	166170429	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:166170429G>A	ENST00000375437.2	+	10	1484	c.1194G>A	c.(1192-1194)ggG>ggA	p.G398G	SCN2A_ENST00000283256.6_Silent_p.G398G|SCN2A_ENST00000375427.2_Silent_p.G398G|SCN2A_ENST00000357398.3_Silent_p.G398G	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	398					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GTGCTGCTGGGAAAACGTACA	0.353000													15	90					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179472717	179472717	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179472717C>T	ENST00000589042.1	-	276	53021	c.52797G>A	c.(52795-52797)ggG>ggA	p.G17599G	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Silent_p.G8659G|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.G8726G|TTN_ENST00000342992.6_Silent_p.G15031G|TTN_ENST00000460472.2_Silent_p.G8534G|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.G15958G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15958	Fibronectin type-III 27.						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)			CAACAATTTCCCCACCACCAT	0.473000													13	88					0	0	1	0	0
MAP2	4133	broad.mit.edu	37	2	210559669	210559669	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:210559669C>T	ENST00000360351.4	+	7	3281	c.2775C>T	c.(2773-2775)gtC>gtT	p.V925V	MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000447185.1_Silent_p.V921V|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	925					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CCGGAAGAGTCAAAGATGAGT	0.438000													21	74					0	0	1	0	0
CYP2C18	1562	broad.mit.edu	37	10	96480210	96480210	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:96480210G>A	ENST00000285979.6	+	6	1076	c.877G>A	c.(877-879)Gat>Aat	p.D293N	CYP2C19_ENST00000464755.1_3'UTR|CYP2C18_ENST00000339022.5_Missense_Mutation_p.D234N	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		CACTGTAACTGATATGTTTGG	0.398000													5	66					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36879930	36879930	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:36879930G>A	ENST00000429976.2	-	19	5565	c.5318C>T	c.(5317-5319)tCc>tTc	p.S1773F	TRANK1_ENST00000428977.2_Missense_Mutation_p.S1223F|TRANK1_ENST00000301807.6_Missense_Mutation_p.S1223F			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1773					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						ACACTTAAGGGACAGTGTTGG	0.493000													12	86					0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196651833	196651833	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:196651833C>T	ENST00000312428.6	-	58	10879	c.10779G>A	c.(10777-10779)cgG>cgA	p.R3593R	DNAH7_ENST00000409063.1_Silent_p.R76R	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3593	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTCCAAATTTCCGTCTTTCTT	0.413000													20	66					0	0	1	0	0
ADH7	131	broad.mit.edu	37	4	100349710	100349710	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:100349710C>T	ENST00000437033.2	-	3	701	c.198G>A	c.(196-198)gtG>gtA	p.V66V	ADH7_ENST00000476959.1_Silent_p.V86V|ADH7_ENST00000482593.1_Silent_p.V9V|ADH7_ENST00000209665.4_Silent_p.V78V			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	78					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CCTCATGTCCCACAATCACTG	0.418000													8	145					0	0	1	0	0
CDH6	1004	broad.mit.edu	37	5	31299732	31299732	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:31299732C>T	ENST00000265071.2	+	5	1070	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	CDH6_ENST00000514738.1_Missense_Mutation_p.P214S	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	269	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TCCCCGATTCCCCCAGAGTAG	0.413000													5	100					0	0	1	0	0
SYTL2	54843	broad.mit.edu	37	11	85445563	85445563	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:85445563G>A	ENST00000316356.4	-	7	1373	c.809C>T	c.(808-810)cCg>cTg	p.P270L	SYTL2_ENST00000524452.1_Missense_Mutation_p.P269L|SYTL2_ENST00000528231.1_Missense_Mutation_p.P269L|SYTL2_ENST00000527523.1_Missense_Mutation_p.P221L|SYTL2_ENST00000389960.4_Missense_Mutation_p.P269L			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	269					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase 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)		GATCCCTCTCGGAGCCCCTCT	0.438000													9	180					0	0	1	0	0
ZNF816	125893	broad.mit.edu	37	19	53453967	53453967	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:53453967G>A	ENST00000357666.4	-	5	1361	c.1061C>T	c.(1060-1062)tCa>tTa	p.S354L	ZNF321P_ENST00000391777.3_Intron|ZNF816_ENST00000434371.2_Intron|ZNF816_ENST00000444460.2_Missense_Mutation_p.S354L	NM_001031665.2	NP_001026835.1	Q0VGE8	ZN816_HUMAN	zinc finger protein 816	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(10)|lung(9)|stomach(1)|urinary_tract(2)	27						TACAAGGGCTGAATTTCGACC	0.418000													9	247					0	0	1	0	0
ABHD14B	84836	broad.mit.edu	37	3	52004126	52004126	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:52004126C>T	ENST00000315877.10	-	5	973	c.280G>A	c.(280-282)Gtg>Atg	p.V94M	ABHD14B_ENST00000395008.2_Missense_Mutation_p.V96M|RP11-155D18.12_ENST00000488257.1_RNA|ABHD14B_ENST00000487005.1_5'UTR|ABHD14B_ENST00000483233.1_Missense_Mutation_p.V96M|ABHD14B_ENST00000361143.5_Missense_Mutation_p.V96M|ABHD14B_ENST00000525795.1_Missense_Mutation_p.V96M|ABHD14B_ENST00000461108.1_Missense_Mutation_p.V96M			Q96IU4	ABHEB_HUMAN	abhydrolase domain containing 14B	96						cytoplasm|nucleus	hydrolase activity			large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000548)|KIRC - Kidney renal clear cell carcinoma(197;0.00072)		GCATCCACCACAGCCGCCAGG	0.647000													18	81					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73736029	73736029	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:73736029G>A	ENST00000200181.3	+	20	2510	c.2323G>A	c.(2323-2325)Gac>Aac	p.D775N	ITGB4_ENST00000450894.3_Missense_Mutation_p.D775N|ITGB4_ENST00000449880.2_Missense_Mutation_p.D775N|ITGB4_ENST00000579662.1_Missense_Mutation_p.D775N|ITGB4_ENST00000339591.3_Missense_Mutation_p.D775N|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	775					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)			TGACCACTTGGACACGCCCAT	0.622000													7	75					0	0	1	0	0
UGT1A10	54575	broad.mit.edu	37	2	234545667	234545667	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:234545667G>A	ENST00000344644.5	+	1	568	c.499G>A	c.(499-501)Gtc>Atc	p.V167I	UGT1A10_ENST00000373445.1_Missense_Mutation_p.V167I|UGT1A8_ENST00000373450.4_Intron	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCCCTCTGTGGTCTTCACCAG	0.443000													41	220					0	0	1	0	0
OR4L1	122742	broad.mit.edu	37	14	20528836	20528836	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:20528836C>T	ENST00000315683.1	+	1	633	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TCACCTGTTTCATCCTCTTGC	0.453000													19	217					0	0	1	0	0
APOBEC1	339	broad.mit.edu	37	12	7803718	7803718	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:7803718C>T	ENST00000229304.4	-	4	482	c.462G>A	c.(460-462)agG>agA	p.R154R		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	154					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding	p.R154S(1)		kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TGACAAAATTCCTCCAGCAGT	0.448000													6	90					0	0	1	0	0
CCDC129	223075	broad.mit.edu	37	7	31614197	31614197	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:31614197A>G	ENST00000319386.3	+	7	1432	c.439A>G	c.(439-441)Att>Gtt	p.I147V	CCDC129_ENST00000451887.2_Missense_Mutation_p.I173V|CCDC129_ENST00000482748.1_3'UTR|CCDC129_ENST00000407970.3_Missense_Mutation_p.I147V|CCDC129_ENST00000409210.1_Missense_Mutation_p.I55V			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	147										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TCCAGTGGAGATTCTCTTGGA	0.438000													36	121					0	0	1	0	0
TRIB2	28951	broad.mit.edu	37	2	12880729	12880729	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:12880729G>T	ENST00000155926.4	+	3	2260	c.841G>T	c.(841-843)Gcc>Tcc	p.A281S	TRIB2_ENST00000381465.2_Missense_Mutation_p.A145S	NM_021643.3	NP_067675.1	Q92519	TRIB2_HUMAN	tribbles pseudokinase 2	281	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTCGCCCAAGGCCAAGTGCCT	0.557000													8	69					7.48243e-07	7.60186e-07	1	1	0
PAPPA2	60676	broad.mit.edu	37	1	176659413	176659413	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:176659413G>A	ENST00000367662.3	+	5	3442	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	PAPPA2_ENST00000367661.3_Missense_Mutation_p.E760K	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	760					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						CCCCTGCAAGGAGACAGTGCC	0.557000													17	187					0	0	1	0	0
SLC13A1	6561	broad.mit.edu	37	7	122839998	122839998	+	Translation_Start_Site	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:122839998C>T	ENST00000194130.2	-	1	42	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	1						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)	TGAAGAATTTCATTGTCCTGA	0.423000													7	47					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49738103	49738103	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:49738103G>A	ENST00000327697.6	+	15	1382	c.1238G>A	c.(1237-1239)aGg>aAg	p.R413K	RNF123_ENST00000432042.1_Missense_Mutation_p.R267K	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	413						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCCATCCTGAGGCATGAGAAG	0.607000													13	129					0	0	1	0	0
CD4	920	broad.mit.edu	37	12	6909590	6909590	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:6909590C>T	ENST00000011653.4	+	3	425	c.167C>T	c.(166-168)tCc>tTc	p.S56F	CD4_ENST00000541982.1_Intron|CD4_ENST00000538827.1_Intron	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	56	Ig-like V-type.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				TGGAAAAACTCCAACCAGATA	0.473000													12	67					0	0	1	0	0
RNF133	168433	broad.mit.edu	37	7	122338652	122338652	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:122338652C>T	ENST00000340112.2	-	1	558	c.321G>A	c.(319-321)cgG>cgA	p.R107R	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	107	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding	p.R107P(1)		NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						TACAACCTCCCCGTTCAATAA	0.453000													22	185					0	0	1	0	0
SLCO6A1	133482	broad.mit.edu	37	5	101816055	101816055	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:101816055C>T	ENST00000506729.1	-	2	613	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	SLCO6A1_ENST00000514551.1_5'UTR|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.E148K|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.E148K|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.E148K|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.E148K			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	148						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)		TAACTCTTTTCCAATGCCAAC	0.343000													6	88					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2778010	2778010	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:2778010C>T	ENST00000397461.1	+	4	551	c.167C>T	c.(166-168)cCa>cTa	p.P56L	CNTN4_ENST00000427331.1_Missense_Mutation_p.P56L|CNTN4_ENST00000418658.1_Missense_Mutation_p.P56L	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	56	Ig-like C2-type 1.				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)		AAAGGAAATCCAAAACCTCAT	0.343000													5	86					0	0	1	0	0
SPIDR	23514	broad.mit.edu	37	8	48508471	48508471	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:48508471A>G	ENST00000297423.4	+	9	1580	c.1196A>G	c.(1195-1197)gAa>gGa	p.E399G	SPIDR_ENST00000521214.1_3'UTR|SPIDR_ENST00000518074.1_Missense_Mutation_p.E339G|SPIDR_ENST00000541342.1_Missense_Mutation_p.E329G	NM_001080394.2	NP_001073863.1			scaffolding protein involved in DNA repair																		AAAACTTGTGAAGTGTACTGT	0.383000													12	58					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123419371	123419371	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:123419371G>A	ENST00000360772.3	-	19	3322	c.2944C>T	c.(2944-2946)Cgc>Tgc	p.R982C	MYLK_ENST00000475616.1_Missense_Mutation_p.R982C|MYLK_ENST00000360304.3_Missense_Mutation_p.R982C|MYLK_ENST00000359169.1_Missense_Mutation_p.R982C|MYLK_ENST00000346322.5_Missense_Mutation_p.R913C			Q15746	MYLK_HUMAN	myosin light chain kinase	982	5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP 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)		AGCACTGAGCGAAAATCCGGG	0.587000													14	118					0	0	1	0	0
TIPARP	25976	broad.mit.edu	37	3	156395589	156395589	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:156395589C>T	ENST00000461166.1	+	2	691	c.103C>T	c.(103-105)Cca>Tca	p.P35S	TIPARP_ENST00000542783.1_Missense_Mutation_p.P35S|TIPARP_ENST00000486483.1_Missense_Mutation_p.P35S|TIPARP_ENST00000295924.7_Missense_Mutation_p.P35S	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	35							NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GAAGATCACTCCATTGAAGAC	0.448000													17	128					0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140946615	140946615	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:140946615C>T	ENST00000277549.5	+	26	3939	c.1370C>T	c.(1369-1371)aCc>aTc	p.T457I	CACNA1B_ENST00000277551.2_Missense_Mutation_p.T1261I|CACNA1B_ENST00000371355.4_Missense_Mutation_p.T1262I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.T1262I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.T1261I|CACNA1B_ENST00000371372.1_Missense_Mutation_p.T1261I			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1261					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCCCTCAAGACCATCAAACGG	0.537000													3	13					0	0	1	0	0
IGHV3-9	28451	broad.mit.edu	37	14	106552703	106552703	+	RNA	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:106552703G>A	ENST00000390600.2	-	0	106																											TAGCCAAAAGGAAAATCCAGC	0.478000													15	143					0	0	1	0	0
C6orf222	389384	broad.mit.edu	37	6	36298315	36298315	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:36298315C>T	ENST00000437635.2	-	2	330	c.153G>A	c.(151-153)acG>acA	p.T51T		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	51										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AATCACTGGTCGTCCAGTGAA	0.652000													11	92					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40790000	40790000	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:40790000C>T	ENST00000373198.3	-	18	2975	c.2740G>A	c.(2740-2742)Gaa>Aaa	p.E914K	PTPRT_ENST00000373201.1_Missense_Mutation_p.E882K|PTPRT_ENST00000373193.3_Missense_Mutation_p.E895K|PTPRT_ENST00000356100.2_Missense_Mutation_p.E901K|PTPRT_ENST00000373184.1_Missense_Mutation_p.E882K|PTPRT_ENST00000373190.1_Missense_Mutation_p.E891K|PTPRT_ENST00000373187.1_Missense_Mutation_p.E892K	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	892	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.E914K(2)		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)				ACCTCGTATTCCTCCTTGAAC	0.557000													5	65					0	0	1	0	0
KLRC3	3823	broad.mit.edu	37	12	10568224	10568224	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:10568224C>T	ENST00000381903.2	-	6	756	c.757G>A	c.(757-759)Gat>Aat	p.D253N	KLRC3_ENST00000381904.2_Intron|NKG2-E_ENST00000539033.1_Intron|KLRC3_ENST00000396439.2_Intron	NM_007333.2	NP_031359.2			killer cell lectin-like receptor subfamily C, member 3											large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						ATCATAATATCATTTCTGTTT	0.284000													3	28					0	0	1	0	0
MYLK	4638	broad.mit.edu	37	3	123345683	123345683	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:123345683C>T	ENST00000360772.3	-	31	5445	c.5067G>A	c.(5065-5067)atG>atA	p.M1689I	MYLK-AS1_ENST00000463408.1_RNA|MYLK_ENST00000475616.1_Missense_Mutation_p.M1740I|MYLK-AS1_ENST00000470449.1_RNA|MYLK_ENST00000360304.3_Missense_Mutation_p.M1740I|MYLK_ENST00000359169.1_Missense_Mutation_p.M1689I|MYLK_ENST00000354792.5_Missense_Mutation_p.M540I|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000346322.5_Missense_Mutation_p.M1671I			Q15746	MYLK_HUMAN	myosin light chain kinase	1740	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP 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)		TCCTTCTTGCCATGTACTTCT	0.498000													5	87					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89925212	89925212	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:89925212G>A	ENST00000405460.2	+	9	1791	c.1695G>A	c.(1693-1695)gtG>gtA	p.V565V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	565					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			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)		CTGGAGCTGTGGACCCCTTGC	0.388000													8	54					0	0	1	0	0
CCDC141	285025	broad.mit.edu	37	2	179702035	179702035	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179702035C>T	ENST00000420890.2	-	23	4028	c.3911G>A	c.(3910-3912)gGa>gAa	p.G1304E	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.G729E	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	729							protein binding			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)			TTCCACGAATCCTCTGGAGGT	0.473000													15	99					0	0	1	0	0
TRPM8	79054	broad.mit.edu	37	2	234858708	234858708	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:234858708C>T	ENST00000324695.4	+	9	1098	c.1058C>T	c.(1057-1059)gCc>gTc	p.A353V	AC005538.5_ENST00000455991.1_RNA|TRPM8_ENST00000433712.2_Missense_Mutation_p.A41V	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	353						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)	ACATCTTCTGCCGTCAAGGAG	0.547000													7	45					0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27566005	27566005	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:27566005G>A	ENST00000359541.2	-	3	686	c.257C>T	c.(256-258)tCa>tTa	p.S86L	GTF3C2_ENST00000264720.3_Missense_Mutation_p.S86L			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	86						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACATCTCTGAAGAAAGATC	0.483000													26	116					0	0	1	0	0
PASK	23178	broad.mit.edu	37	2	242047622	242047622	+	Silent	SNP	G	G	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:242047622G>C	ENST00000405260.1	-	16	4325	c.3627C>G	c.(3625-3627)acC>acG	p.T1209T	PASK_ENST00000358649.4_Silent_p.T1216T|PASK_ENST00000234040.4_Silent_p.T1209T|PASK_ENST00000539818.1_Silent_p.T993T|PASK_ENST00000475666.1_5'UTR|PASK_ENST00000544142.1_Silent_p.T1023T	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1209	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CAGCCTCCACGGTCTCCTCCA	0.567000													17	100					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13752396	13752396	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:13752396G>A	ENST00000265104.4	-	64	10979	c.10875C>T	c.(10873-10875)atC>atT	p.I3625I		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3625	AAA 5 (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)					TTAAAGACGTGATCTAGGAAC	0.423000									Kartagener syndrome				19	99					0	0	1	0	0
DNAH8	1769	broad.mit.edu	37	6	38980061	38980061	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:38980061G>A	ENST00000359357.3	+	88	13045	c.12791G>A	c.(12790-12792)aGa>aAa	p.R4264K	DNAH8_ENST00000441566.1_Missense_Mutation_p.R4228K					dynein, axonemal, heavy chain 8											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						GAAATTGACAGAATGCAAAGA	0.348000													6	89					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963377	73963377	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:73963377G>A	ENST00000373468.1	-	3	1666	c.1015C>T	c.(1015-1017)Ccc>Tcc	p.P339S	KIAA2022_ENST00000055682.5_Missense_Mutation_p.P339S			Q5QGS0	K2022_HUMAN	KIAA2022	339					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AAGACGCTGGGAAAAAAGTTG	0.458000													26	65					0	0	1	0	0
PLS1	5357	broad.mit.edu	37	3	142389935	142389935	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:142389935C>T	ENST00000337777.3	+	4	548	c.335C>T	c.(334-336)tCc>tTc	p.S112F	PLS1_ENST00000457734.2_Missense_Mutation_p.S112F|PLS1_ENST00000497002.1_Missense_Mutation_p.S112F	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	112	Actin-binding 1.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TCAACTATTTCCAGTGAGGGC	0.338000													28	165					0	0	1	0	0
THBS4	7060	broad.mit.edu	37	5	79374017	79374017	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:79374017C>T	ENST00000350881.2	+	17	2422	c.2232C>T	c.(2230-2232)gcC>gcT	p.A744A	CTD-2201I18.1_ENST00000503007.1_RNA|CTD-2201I18.1_ENST00000514042.1_RNA|THBS4_ENST00000511733.1_Silent_p.A653A	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	744	TSP C-terminal.				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)		AAGGGGATGCCCAGATCGATC	0.587000													3	20					0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36595461	36595461	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:36595461G>A	ENST00000299440.5	+	2	719	c.607G>A	c.(607-609)Gag>Aag	p.E203K		NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN	recombination activating gene 1	203	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	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)				CGTGACCATGGAGTGGCACCC	0.537000									Familial Hemophagocytic Lymphohistiocytosis				7	99					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42079803	42079803	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:42079803G>A	ENST00000395925.3	-	7	946	c.862C>T	c.(862-864)Ccg>Tcg	p.P288S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	288					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TTTCGGCTCGGCCTGGCTGAC	0.468000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				9	127					0	0	1	0	0
NFASC	23114	broad.mit.edu	37	1	204956614	204956614	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:204956614C>T	ENST00000367172.4	+	24	3188	c.2860C>T	c.(2860-2862)Cat>Tat	p.H954Y	NFASC_ENST00000339876.6_Missense_Mutation_p.H847Y|NFASC_ENST00000367169.4_Missense_Mutation_p.H847Y|NFASC_ENST00000338586.6_Missense_Mutation_p.H954Y|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000338515.6_Missense_Mutation_p.H954Y|NFASC_ENST00000404907.1_Missense_Mutation_p.H950Y|NFASC_ENST00000404076.1_Missense_Mutation_p.H933Y|NFASC_ENST00000539706.1_Missense_Mutation_p.H950Y|NFASC_ENST00000401399.1_Missense_Mutation_p.H847Y|NFASC_ENST00000367171.4_Missense_Mutation_p.H939Y|NFASC_ENST00000360049.4_Missense_Mutation_p.H950Y|NFASC_ENST00000367170.4_Missense_Mutation_p.H954Y|NFASC_ENST00000513543.1_Missense_Mutation_p.H950Y			O94856	NFASC_HUMAN	neurofascin	954	Fibronectin type-III 4.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GGAATGGGATCATCCTGAGCA	0.517000													5	88					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24494039	24494039	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:24494039G>A	ENST00000398319.2	+	26	4386	c.4001G>A	c.(4000-4002)gGa>gAa	p.G1334E	CABIN1_ENST00000263119.5_Missense_Mutation_p.G1334E|CABIN1_ENST00000405822.2_Missense_Mutation_p.G1284E	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1334					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCGGGCCCCGGAGCCTCCCTC	0.607000													9	95					0	0	1	0	0
HTR1A	3350	broad.mit.edu	37	5	63257039	63257039	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:63257039G>A	ENST00000323865.3	-	1	741	c.508C>T	c.(508-510)Ccg>Tcg	p.P170S	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	170					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AGCATGGGCGGGATAGAGATG	0.612000													14	171					0	0	1	0	0
ONECUT2	9480	broad.mit.edu	37	18	55143778	55143778	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:55143778G>A	ENST00000491143.2	+	2	1370	c.1338G>A	c.(1336-1338)aaG>aaA	p.K446K		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	446					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CCATCTTCAAGGAGAACAAAC	0.542000													7	82					0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71849418	71849418	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:71849418C>T	ENST00000377245.4	+	12	1943	c.1735C>T	c.(1735-1737)Cct>Tct	p.P579S	TJP2_ENST00000539225.1_Missense_Mutation_p.P610S|TJP2_ENST00000348208.4_Missense_Mutation_p.P579S|TJP2_ENST00000265384.7_Missense_Mutation_p.P579S|TJP2_ENST00000453658.2_Missense_Mutation_p.P556S|TJP2_ENST00000535702.1_Missense_Mutation_p.P583S	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	579	PDZ 3.				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						GTTAGAAATCCCTAAAGGTGA	0.443000													5	55					0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27551026	27551026	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:27551026G>A	ENST00000359541.2	-	17	2716	c.2287C>T	c.(2287-2289)Cag>Tag	p.Q763*	GTF3C2_ENST00000264720.3_Nonsense_Mutation_p.Q763*			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	763						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACTGTCCTGATACGGTATC	0.433000													7	72					0	0	1	0	0
RNF215	200312	broad.mit.edu	37	22	30776101	30776101	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:30776101G>A	ENST00000382363.3	-	7	1032	c.958C>T	c.(958-960)Ccg>Tcg	p.P320S		NM_001017981.1	NP_001017981.1	Q9Y6U7	RN215_HUMAN	ring finger protein 215	320						integral to membrane	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)	6						TCAGCACCCGGATCTGGGAGG	0.647000													10	107					0	0	1	0	0
CALCR	799	broad.mit.edu	37	7	93055703	93055703	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:93055703G>A	ENST00000359558.2	-	16	1791	c.1492C>T	c.(1492-1494)Cct>Tct	p.P498S	CALCR_ENST00000394441.1_Missense_Mutation_p.P464S|CALCR_ENST00000360249.4_Missense_Mutation_p.P480S|CALCR_ENST00000421592.1_Missense_Mutation_p.P480S|CALCR_ENST00000426151.1_Missense_Mutation_p.P464S	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	480					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)	ATATTCAAAGGGATGATCTCA	0.493000													8	186					0	0	1	0	0
MBOAT1	154141	broad.mit.edu	37	6	20109975	20109975	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:20109975C>T	ENST00000541730.1	-	11	1363	c.768G>A	c.(766-768)agG>agA	p.R256R	MBOAT1_ENST00000324607.7_Silent_p.R405R			Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1	405					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)			TGTAGTTGTTCCTGACCTGCA	0.488000													4	68					0	0	1	0	0
SPTA1	6708	broad.mit.edu	37	1	158624435	158624435	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:158624435C>T	ENST00000368148.3	-	21	3182	c.3002G>A	c.(3001-3003)gGt>gAt	p.G1001D	SPTA1_ENST00000368147.3_Missense_Mutation_p.G1001D	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)	1001	SH3.				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)					TAAGACATCACCTTTCTTCAT	0.488000													8	60					0	0	1	0	0
CDH23	64072	broad.mit.edu	37	10	73494026	73494026	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:73494026C>T	ENST00000224721.6	+	32	4154	c.4149C>T	c.(4147-4149)gaC>gaT	p.D1383D	C10orf105_ENST00000398786.2_Intron	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1378	Cadherin 13.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCCTGGTGGACCGTGAGAAGG	0.602000													4	19					0	0	1	0	0
CYP1A1	1543	broad.mit.edu	37	15	75014710	75014710	+	Silent	SNP	T	T	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:75014710T>G	ENST00000379727.3	-	2	927	c.729A>C	c.(727-729)ctA>ctC	p.L243L	CYP1A1_ENST00000395049.4_Silent_p.L243L|CYP1A1_ENST00000395048.2_Silent_p.L243L|CYP1A1_ENST00000564596.1_5'UTR|CYP1A1_ENST00000567032.1_Silent_p.L243L			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	243					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	AAGGGTTGGGTAGGTAGCGAA	0.473000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				13	71					0	0	1	0	0
KANSL3	55683	broad.mit.edu	37	2	97276557	97276557	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:97276557G>A	ENST00000599854.1	-	11	1431	c.964C>T	c.(964-966)Ctt>Ttt	p.L322F	KANSL3_ENST00000431828.1_Missense_Mutation_p.L409F|KANSL3_ENST00000441706.2_Missense_Mutation_p.L322F|KANSL3_ENST00000440133.1_Missense_Mutation_p.L203F|KANSL3_ENST00000487070.1_5'UTR	NM_001115016.2	NP_001108488.1	Q9P2N6	K1310_HUMAN	KAT8 regulatory NSL complex subunit 3	409																	TGACATTGAAGGGAATTCTGA	0.478000													11	167					0	0	1	0	0
SAMD14	201191	broad.mit.edu	37	17	48191659	48191659	+	Silent	SNP	C	C	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:48191659C>A	ENST00000330175.4	-	8	1151	c.834G>T	c.(832-834)ctG>ctT	p.L278L	SAMD14_ENST00000503131.1_Silent_p.L306L	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	278										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						AGTCATCACTCAGAGTGGATT	0.582000													6	46					0.00116845	0.00117729	1	1	0
ENAM	10117	broad.mit.edu	37	4	71501559	71501559	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:71501559C>T	ENST00000396073.3	+	7	763	c.482C>T	c.(481-483)cCa>cTa	p.P161L		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	161					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)			GCATTCCCACCATTTGGAAAT	0.328000													6	131					0	0	1	0	0
PUS7	54517	broad.mit.edu	37	7	105148645	105148645	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:105148645C>T	ENST00000356362.2	-	2	529	c.315G>A	c.(313-315)atG>atA	p.M105I	PUS7_ENST00000469408.1_Missense_Mutation_p.M105I	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	105					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						GTCCATGCTTCATCATGTCTG	0.448000													16	144					0	0	1	0	0
PCDHAC1	56135	broad.mit.edu	37	5	140308675	140308675	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140308675C>T	ENST00000253807.2	+	1	2198	c.2198C>T	c.(2197-2199)tCa>tTa	p.S733L	PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S733L|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGATGGTTTCAAATCCTTGC	0.478000													10	117					0	0	1	0	0
PRDM9	56979	broad.mit.edu	37	5	23509190	23509190	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:23509190G>A	ENST00000296682.3	+	2	230	c.48G>A	c.(46-48)gaG>gaA	p.E16E		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	16					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						AAGACACAGAGAGAACAGAGC	0.567000										HNSCC(3;0.000094)			11	58					0	0	1	0	0
SRD5A2	6716	broad.mit.edu	37	2	31754406	31754406	+	RNA	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:31754406G>A	ENST00000405650.1	-	0	834				AL133247.2_ENST00000435713.1_RNA			P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GCAGCCCAAGGAAACAAAGTG	0.473000													6	52					0	0	1	0	0
ZC3HAV1	56829	broad.mit.edu	37	7	138764525	138764525	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:138764525G>A	ENST00000242351.5	-	4	1478	c.1162C>T	c.(1162-1164)Ctt>Ttt	p.L388F	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.L388F|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.L388F	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	388					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						AGAGAGCCAAGAGAAGAGCGG	0.542000													15	144					0	0	1	0	0
PREX1	57580	broad.mit.edu	37	20	47246067	47246067	+	Silent	SNP	G	G	A	rs41283544	byFrequency	TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:47246067G>A	ENST00000371941.3	-	37	4708	c.4686C>T	c.(4684-4686)gcC>gcT	p.A1562A	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871.2	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1562					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGATGAGGCCGGCGCCCACAC	0.642000													6	105					0	0	1	0	0
RSF1	51773	broad.mit.edu	37	11	77412966	77412966	+	Silent	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:77412966A>G	ENST00000308488.6	-	6	1610	c.1308T>C	c.(1306-1308)caT>caC	p.H436H	RSF1_ENST00000360355.2_Silent_p.H405H|RSF1_ENST00000480887.1_Silent_p.H184H			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	436					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GTTTCCCTTCATGACCCAAAG	0.358000													6	78					0	0	1	0	0
ELAVL2	1993	broad.mit.edu	37	9	23762053	23762053	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:23762053C>T	ENST00000397312.2	-	2	454	c.180G>A	c.(178-180)ggG>ggA	p.G60G	ELAVL2_ENST00000223951.6_Silent_p.G60G|ELAVL2_ENST00000544538.1_Silent_p.G60G|ELAVL2_ENST00000380117.1_Silent_p.G60G|ELAVL2_ENST00000380110.4_Silent_p.G89G	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	60	RRM 1.				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)		CACCAATGCTCCCAAAGAGAC	0.398000													14	109					0	0	1	0	0
CLEC4D	338339	broad.mit.edu	37	12	8671664	8671664	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:8671664C>T	ENST00000299665.2	+	4	485	c.292C>T	c.(292-294)Cct>Tct	p.P98S		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	98	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					CTGCTATTTTCCTCTTACTGA	0.483000													6	40					0	0	1	0	0
GRB7	2886	broad.mit.edu	37	17	37898582	37898582	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:37898582C>T	ENST00000309156.4	+	2	285	c.28C>T	c.(28-30)Ctt>Ttt	p.L10F	GRB7_ENST00000445327.2_Missense_Mutation_p.L33F|GRB7_ENST00000309185.3_Missense_Mutation_p.L10F|GRB7_ENST00000578702.1_3'UTR|GRB7_ENST00000394204.1_Missense_Mutation_p.L10F|GRB7_ENST00000394209.2_Missense_Mutation_p.L10F|GRB7_ENST00000394211.3_Missense_Mutation_p.L10F	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	10					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	phosphatidylinositol binding|protein kinase binding|SH3/SH2 adaptor activity			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)			TCCACCTCATCTTAGCAGCTC	0.607000													9	221					0	0	1	0	0
SLC8A3	6547	broad.mit.edu	37	14	70633856	70633856	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:70633856G>A	ENST00000381269.2	-	2	2037	c.1284C>T	c.(1282-1284)acC>acT	p.T428T	SLC8A3_ENST00000357887.3_Silent_p.T428T|SLC8A3_ENST00000528359.1_Silent_p.T428T|SLC8A3_ENST00000356921.2_Silent_p.T428T|SLC8A3_ENST00000534137.1_Silent_p.T428T	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	428	Calx-beta 1.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		CCACATACATGGTCTTTGACA	0.517000													21	162					0	0	1	0	0
C3orf36	80111	broad.mit.edu	37	3	133647364	133647364	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:133647364G>A	ENST00000408895.2	-	1	1292	c.284C>T	c.(283-285)cCc>cTc	p.P95L		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	95										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						GCTGGGTAGGGGTGGAGTGTG	0.697000													6	31					0	0	1	0	0
INPP5J	27124	broad.mit.edu	37	22	31524262	31524262	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:31524262C>T	ENST00000331075.5	+	8	2011	c.1962C>T	c.(1960-1962)ttC>ttT	p.F654F	INPP5J_ENST00000400294.2_Silent_p.F287F|INPP5J_ENST00000405300.1_Silent_p.F287F|INPP5J_ENST00000402238.1_Silent_p.F19F|INPP5J_ENST00000412277.2_Silent_p.F587F|INPP5J_ENST00000404453.1_Silent_p.F19F|INPP5J_ENST00000404390.3_Silent_p.F286F|INPP5J_ENST00000401755.1_Silent_p.F19F			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	654	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CCCTCAACTTCGCTCCCACCT	0.557000													3	17					0	0	1	0	0
KIAA1279	26128	broad.mit.edu	37	10	70760185	70760185	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:70760185C>A	ENST00000361983.4	+	2	534	c.432C>A	c.(430-432)aaC>aaA	p.N144K		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	144					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						TCCAGAATAACCTGGGTATCT	0.318000													9	72					1.58986e-06	1.613e-06	1	1	0
ZCCHC4	29063	broad.mit.edu	37	4	25334962	25334962	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:25334962C>T	ENST00000302874.4	+	4	511	c.487C>T	c.(487-489)Cca>Tca	p.P163S	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	163							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				ACTCCTTTATCCACTGGAAAA	0.463000													8	96					0	0	1	0	0
GOLGA7B	401647	broad.mit.edu	37	10	99623759	99623759	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:99623759G>A	ENST00000370602.1	+	3	276	c.211G>A	c.(211-213)Ggc>Agc	p.G71S		NM_001010917.2	NP_001010917.1	Q2TAP0	GOG7B_HUMAN	golgin A7 family, member B	71						Golgi membrane				endometrium(1)|large_intestine(3)|prostate(1)	5						GAAGATTGGGGGCAGCTCCTA	0.607000													4	66					0	0	1	0	0
ZNF449	203523	broad.mit.edu	37	X	134483196	134483196	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:134483196G>A	ENST00000339249.4	+	3	656	c.516G>A	c.(514-516)ctG>ctA	p.L172L		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	172					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)					CACCGGAGCTGAACTATGGTG	0.532000													16	76					0	0	1	0	0
CD2	914	broad.mit.edu	37	1	117297357	117297357	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:117297357G>A	ENST00000369478.3	+	2	274	c.166G>A	c.(166-168)Gat>Aat	p.D56N	CD2_ENST00000369477.1_Missense_Mutation_p.D56N	NM_001767.3	NP_001758.2	P06729	CD2_HUMAN	CD2 molecule	56	Ig-like V-type.				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|T cell activation	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)	TGATATTGACGATATAAAATG	0.353000													7	74					0	0	1	0	0
TMEM17	200728	broad.mit.edu	37	2	62728452	62728452	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:62728452C>T	ENST00000335390.5	-	4	700	c.489G>A	c.(487-489)agG>agA	p.R163R		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17	163						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			TAACCATTTTCCTTAAGGTAA	0.423000													21	139					0	0	1	0	0
PGAP1	80055	broad.mit.edu	37	2	197707546	197707546	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:197707546A>T	ENST00000354764.3	-	26	2643	c.2529T>A	c.(2527-2529)taT>taA	p.Y843*		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	843					attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GTTTAAAATAATACCTATAAT	0.279000													3	28					0	0	1	0	0
ARMC5	79798	broad.mit.edu	37	16	31470837	31470837	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:31470837C>T	ENST00000408912.3	+	3	594	c.277C>T	c.(277-279)Cga>Tga	p.R93*	ARMC5_ENST00000268314.4_5'UTR|ARMC5_ENST00000563544.1_5'UTR|ARMC5_ENST00000457010.2_5'UTR|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000538189.1_Nonsense_Mutation_p.R30*			Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	0							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GTCTGAGGCCCGAGCCAAGAT	0.687000													5	14					0	0	1	0	0
GRM6	2916	broad.mit.edu	37	5	178413137	178413137	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:178413137G>A	ENST00000231188.5	-	8	2296	c.2118C>T	c.(2116-2118)tcC>tcT	p.S706S	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000517717.1_Silent_p.S706S	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	706					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)		CCACCTGCAGGGAGGTGAGGC	0.627000													3	20					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149226716	149226716	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:149226716C>T	ENST00000407073.1	+	9	2201	c.1204C>T	c.(1204-1206)Cct>Tct	p.P402S	MBD5_ENST00000404807.1_Missense_Mutation_p.P402S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	402	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TGCTGTTGTTCCTTTGCCAAG	0.433000													40	187					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13923474	13923474	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:13923474C>T	ENST00000265104.4	-	4	457	c.353G>A	c.(352-354)gGa>gAa	p.G118E		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	118	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)					CACATCGTTTCCCTCGGTCAC	0.453000									Kartagener syndrome				35	167					0	0	1	0	0
RNF123	63891	broad.mit.edu	37	3	49738101	49738101	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:49738101G>A	ENST00000327697.6	+	15	1380	c.1236G>A	c.(1234-1236)ctG>ctA	p.L412L	RNF123_ENST00000432042.1_Silent_p.L266L	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	412						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TCGCCATCCTGAGGCATGAGA	0.607000													14	131					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12476719	12476719	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:12476719C>T	ENST00000358136.3	+	65	12302	c.12172C>T	c.(12172-12174)Ctc>Ttc	p.L4058F	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Missense_Mutation_p.L4033F|VPS13D_ENST00000543766.1_Missense_Mutation_p.L56F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4057					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)		GCAGGAACTCCTCAGCCAGGC	0.428000													6	72					0	0	1	0	0
TRIT1	54802	broad.mit.edu	37	1	40315824	40315824	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:40315824G>A	ENST00000316891.5	-	5	684	c.670C>T	c.(670-672)Cct>Tct	p.P224S	TRIT1_ENST00000537440.1_5'UTR|TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.P224S|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.P144S|TRIT1_ENST00000545233.1_5'UTR	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	224					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGGATGCAAGGGTTAGAGAAC	0.453000													9	66					0	0	1	0	0
DYRK4	8798	broad.mit.edu	37	12	4708927	4708927	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:4708927G>A	ENST00000540757.2	+	8	914	c.754G>A	c.(754-756)Gga>Aga	p.G252R	DYRK4_ENST00000010132.5_Missense_Mutation_p.G252R|DYRK4_ENST00000543431.1_Missense_Mutation_p.G252R	NM_003845.1	NP_003836.1	Q9NR20	DYRK4_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	252	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G654R(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)			CATTGACTTTGGATCAAGCTG	0.428000													6	91					0	0	1	0	0
CHRNA3	1136	broad.mit.edu	37	15	78894516	78894516	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:78894516C>T	ENST00000326828.5	-	5	852	c.468G>A	c.(466-468)aaG>aaA	p.K156K	CHRNA3_ENST00000348639.3_Silent_p.K156K	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	156					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TACAGGAGCTCTTAAAGATGG	0.488000													22	122					0	0	1	0	0
PARP16	54956	broad.mit.edu	37	15	65553276	65553276	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:65553276G>C	ENST00000261888.6	-	5	1225	c.780C>G	c.(778-780)aaC>aaG	p.N260K	PARP16_ENST00000444347.2_Missense_Mutation_p.N145K	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	260	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GCAGCAGCTGGTTATTGGTGA	0.488000													23	186					0	0	1	0	0
ERN2	10595	broad.mit.edu	37	16	23716309	23716309	+	Missense_Mutation	SNP	C	C	T	rs149889613		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:23716309C>T	ENST00000256797.4	-	8	1061	c.893G>A	c.(892-894)cGa>cAa	p.R298Q	ERN2_ENST00000457008.2_Missense_Mutation_p.R250Q	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	250					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)		CAGAGTGTCTCGAGCCAGCGT	0.672000													14	89					0	0	1	0	0
IGHV1OR15-9	390531	broad.mit.edu	37	15	20170334	20170334	+	RNA	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:20170334G>A	ENST00000338912.5	-	0	20																											CCAAAAACAGGATCCTCCAAG	0.532000													27	167					0	0	1	0	0
SIRT1	23411	broad.mit.edu	37	10	69672350	69672350	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:69672350T>G	ENST00000212015.6	+	8	1530	c.1477T>G	c.(1477-1479)Tta>Gta	p.L493V	SIRT1_ENST00000406900.1_Missense_Mutation_p.L190V|SIRT1_ENST00000432464.1_Missense_Mutation_p.L198V|SIRT1_ENST00000403579.1_Missense_Mutation_p.L190V	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	493	Deacetylase sirtuin-type.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						GTGTCATAGGTTAGGTGGTGA	0.363000													11	87					0	0	1	0	0
IGKV3D-11	28876	broad.mit.edu	37	2	90212023	90212023	+	RNA	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:90212023G>A	ENST00000390277.2	+	0	212																											AGGGGAAAGAGCCACCCTCTC	0.517000													11	124					0	0	1	0	0
ACTRT2	140625	broad.mit.edu	37	1	2939042	2939042	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:2939042C>T	ENST00000378404.2	+	1	997	c.792C>T	c.(790-792)ttC>ttT	p.F264F		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	264						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)		AGGCCCTGTTCGTGCCCCAGC	0.642000													19	95					0	0	1	0	0
GUCY1A2	2977	broad.mit.edu	37	11	106558339	106558339	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:106558339G>A	ENST00000526355.1	-	8	2603	c.2135C>T	c.(2134-2136)tCg>tTg	p.S712L	GUCY1A2_ENST00000282249.2_Missense_Mutation_p.S743L|GUCY1A2_ENST00000347596.2_Missense_Mutation_p.S733L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	712					intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding	p.S712L(1)		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)		TATTCTCGACGAAGAAAGAGA	0.478000													9	120					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107049684	107049684	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:107049684C>T	ENST00000409886.3	-	16	2350	c.2263G>A	c.(2263-2265)Gaa>Aaa	p.E755K	RGPD3_ENST00000304514.7_Missense_Mutation_p.E755K	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	755					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTATAGTTTTCGAGTTCCTGC	0.368000													22	388					0	0	1	0	0
CHRNA4	1137	broad.mit.edu	37	20	61982356	61982356	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:61982356G>A	ENST00000370263.4	-	5	628	c.407C>T	c.(406-408)aCc>aTc	p.T136I	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	136					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GGTCAGGTGGGTGACCGCGAA	0.647000													4	57					0	0	1	0	0
PRR16	51334	broad.mit.edu	37	5	120022242	120022242	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:120022242C>T	ENST00000379551.2	+	3	1041	c.684C>T	c.(682-684)ctC>ctT	p.L228L	PRR16_ENST00000407149.2_Silent_p.L251L|PRR16_ENST00000446965.1_Silent_p.L181L|PRR16_ENST00000505123.1_Silent_p.L181L	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	251	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GCCCTCCCCTCCCTCCTACAC	0.532000													5	53					0	0	1	0	0
SIRPD	128646	broad.mit.edu	37	20	1532542	1532542	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:1532542C>T	ENST00000381623.3	-	2	1405	c.216G>A	c.(214-216)cgG>cgA	p.R72R	SIRPD_ENST00000381621.1_Silent_p.R72R			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	72	Ig-like V-type.					extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						AGATTAATTTCCGGTTTGGCC	0.463000													7	86					0	0	1	0	0
ITGA7	3679	broad.mit.edu	37	12	56092216	56092216	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:56092216G>A	ENST00000257880.7	-	8	1494	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	ITGA7_ENST00000394230.2_Silent_p.F385F|ITGA7_ENST00000452168.2_Silent_p.F288F|ITGA7_ENST00000394229.2_Silent_p.F381F|ITGA7_ENST00000257879.6_Silent_p.F381F|ITGA7_ENST00000347027.6_Silent_p.F381F|ITGA7_ENST00000555728.1_Silent_p.F425F|ITGA7_ENST00000553804.1_Silent_p.F385F			Q13683	ITA7_HUMAN	integrin, alpha 7	425					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						GGCTGATCCCGAACATGGAGT	0.622000													9	42					0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137363326	137363326	+	Missense_Mutation	SNP	C	C	T	rs145499856		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:137363326C>T	ENST00000424189.2	-	3	812	c.583G>A	c.(583-585)Gag>Aag	p.E195K	DGKI_ENST00000288490.5_Missense_Mutation_p.E195K|DGKI_ENST00000453654.1_5'UTR|DGKI_ENST00000446122.1_Missense_Mutation_p.E195K			O75912	DGKI_HUMAN	diacylglycerol kinase, iota	195					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TGGCAGTTCTCCTCTCCAAGG	0.537000													23	276					0	0	1	0	0
ANGPTL1	9068	broad.mit.edu	37	1	178834185	178834185	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:178834185G>T	ENST00000234816.2	-	3	1174	c.727C>A	c.(727-729)Cca>Aca	p.P243T	RALGPS2_ENST00000367634.2_Intron|RALGPS2_ENST00000367635.3_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.P243T|RALGPS2_ENST00000324778.4_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	243						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						GGATAACCTGGATCCCTCTGA	0.493000													22	82					1.2644e-06	1.28369e-06	1	1	0
MAP3K9	4293	broad.mit.edu	37	14	71215675	71215675	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:71215675G>A	ENST00000554752.2	-	5	1196	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	MAP3K9_ENST00000554146.1_Silent_p.I136I|MAP3K9_ENST00000553414.1_Silent_p.I93I|MAP3K9_ENST00000381250.4_Silent_p.I399I|MAP3K9_ENST00000555993.2_Silent_p.I399I			P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	399	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GCTGGTCCAGGATATTCGTGA	0.468000													14	116					0	0	1	0	0
ZNF808	388558	broad.mit.edu	37	19	53056747	53056747	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:53056747C>T	ENST00000359798.4	+	5	758	c.578C>T	c.(577-579)tCc>tTc	p.S193F		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	193					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)		GTTTCAACATCCCAAAGAATT	0.378000													17	237					0	0	1	0	0
NKG7	4818	broad.mit.edu	37	19	51875529	51875529	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:51875529T>G	ENST00000221978.5	-	2	369	c.190A>C	c.(190-192)Atg>Ctg	p.M64L	NKG7_ENST00000600427.1_Intron|NKG7_ENST00000595217.1_Intron	NM_005601.3	NP_005592.1	Q16617	NKG7_HUMAN	natural killer cell group 7 sequence	64						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AGAACAGCCATAATGCTGAAG	0.622000													8	159					0	0	1	0	0
MMD2	221938	broad.mit.edu	37	7	4947218	4947218	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:4947218C>T	ENST00000404774.3	-	7	816	c.622G>A	c.(622-624)Ggc>Agc	p.G208S	MMD2_ENST00000401401.3_Missense_Mutation_p.G184S|MMD2_ENST00000406755.1_3'UTR	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	208						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		TCCCAGATGCCCTCGGTGTTG	0.612000													14	79					0	0	1	0	0
ARHGAP44	9912	broad.mit.edu	37	17	12893417	12893417	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:12893417G>A	ENST00000379672.5	+	21	2686	c.2386G>A	c.(2386-2388)Gag>Aag	p.E796K	ARHGAP44_ENST00000262444.9_3'UTR|ARHGAP44_ENST00000340825.3_Missense_Mutation_p.E790K	NM_014859.4	NP_055674.4	Q17R89	RHG44_HUMAN	Rho GTPase activating protein 44	796					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|urinary_tract(1)	31						GAGTCCCCTGGAGCACATGCG	0.587000													4	38					0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	92025742	92025742	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:92025742C>T	ENST00000265742.3	+	18	2723	c.2347C>T	c.(2347-2349)Cta>Tta	p.L783L		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	783							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGTTCACAGTCTACTCAGTAA	0.423000													4	9					0	0	1	0	0
PCF11	51585	broad.mit.edu	37	11	82880409	82880409	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:82880409C>T	ENST00000298281.4	+	8	3484	c.3032C>T	c.(3031-3033)cCt>cTt	p.P1011L		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1011	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TTTGAGGGTCCTTCTGTACCA	0.522000													6	50					0	0	1	0	0
IL17RC	84818	broad.mit.edu	37	3	9959258	9959258	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:9959258G>A	ENST00000295981.3	+	1	477	c.259G>A	c.(259-261)Ggc>Agc	p.G87S	IL17RC_ENST00000498214.1_Intron|IL17RC_ENST00000455057.1_Intron|IL17RC_ENST00000413608.1_Intron|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000403601.3_Intron|IL17RC_ENST00000383812.4_Intron	NM_153461.3	NP_703191.1	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	87						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						ACGGGGAAGGGGCAAGAGCTG	0.562000													8	141					0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646713	57646713	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:57646713C>T	ENST00000269834.1	-	5	1377	c.992G>A	c.(991-993)gGa>gAa	p.G331E		NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGGTTTCTCTCCCGTGTGTAT	0.403000													14	192					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75051170	75051170	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:75051170G>A	ENST00000401621.2	-	20	2383	c.2263C>T	c.(2263-2265)Cga>Tga	p.R755*	TTC18_ENST00000394865.1_Nonsense_Mutation_p.R755*|TTC18_ENST00000355577.3_Nonsense_Mutation_p.R224*|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000310715.3_Nonsense_Mutation_p.R755*|TTC18_ENST00000493787.1_5'UTR			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	755							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					ATTTCCATTCGAATATCATTG	0.368000													8	99					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165578736	165578736	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:165578736G>A	ENST00000375458.2	-	6	1066	c.845C>T	c.(844-846)tCc>tTc	p.S282F	COBLL1_ENST00000194871.6_Missense_Mutation_p.S348F|COBLL1_ENST00000342193.4_Missense_Mutation_p.S282F|COBLL1_ENST00000392717.2_Missense_Mutation_p.S320F|COBLL1_ENST00000409184.3_Missense_Mutation_p.S320F|COBLL1_ENST00000491126.2_Intron	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	320										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						CAGGGTGTTGGAAATATATGG	0.527000													9	71					0	0	1	0	0
LRRN1	57633	broad.mit.edu	37	3	3886905	3886905	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:3886905G>A	ENST00000319331.3	+	2	1341	c.580G>A	c.(580-582)Gaa>Aaa	p.E194K	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	194						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ACCCAACCTGGAAATTCTCAT	0.393000													23	201					0	0	1	0	0
PALLD	23022	broad.mit.edu	37	4	169632733	169632733	+	Splice_Site	SNP	C	C	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:169632733C>A	ENST00000335742.7	+	10	1834	c.475_splice	c.e10-1	p.A159_splice	PALLD_ENST00000512127.1_Splice_Site_p.A159_splice|PALLD_ENST00000261509.6_Splice_Site_p.A541_splice|PALLD_ENST00000505667.1_Splice_Site_p.A541_splice			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	541					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CTTCCTTAGCCAACACTGAAA	0.448000									Pancreatic Cancer, Familial Clustering of				5	66					0.014758	0.0147984	1	1	0
CILP2	148113	broad.mit.edu	37	19	19654071	19654071	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:19654071C>T	ENST00000586018.1	+	7	1112	c.1010C>T	c.(1009-1011)aCc>aTc	p.T337I	CILP2_ENST00000291495.4_Missense_Mutation_p.T331I			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	331	Ig-like C2-type.					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						CACAATGGGACCCTGCTGGAC	0.647000													6	54					0	0	1	0	0
ZNF622	90441	broad.mit.edu	37	5	16451855	16451855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:16451855G>A	ENST00000308683.2	-	6	1471	c.1345C>T	c.(1345-1347)Caa>Taa	p.Q449*		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	449						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTCATCCTTTGGACATACTGC	0.438000													16	107					0	0	1	0	0
TRPA1	8989	broad.mit.edu	37	8	72983961	72983961	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:72983961C>T	ENST00000262209.4	-	2	460	c.253G>A	c.(253-255)Gat>Aat	p.D85N		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	85						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AAAGAGGAATCTCTGGTGATC	0.353000													8	59					0	0	1	0	0
ADH1B	125	broad.mit.edu	37	4	100237178	100237178	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:100237178G>A	ENST00000305046.8	-	5	511	c.444C>T	c.(442-444)tcC>tcT	p.S148S	ADH1B_ENST00000394887.3_Silent_p.S108S			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	148					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CCGTGTACTGGGAGAAGGTGC	0.577000													9	128					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134546	128134546	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:128134546C>T	ENST00000368250.1	-	5	1501	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	THEMIS_ENST00000543064.1_Missense_Mutation_p.E414K|THEMIS_ENST00000368248.2_Missense_Mutation_p.E414K|THEMIS_ENST00000537166.1_Missense_Mutation_p.E379K			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	414	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AGGATTTTTTCACAGGCCAGA	0.453000													11	102					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887176	12887176	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:12887176C>T	ENST00000535591.1	-	3	876	c.681G>A	c.(679-681)ctG>ctA	p.L227L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	227										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GGAGGCAGCGCAGCTTGAGGA	0.522000													23	398					0	0	1	0	0
GIMAP8	155038	broad.mit.edu	37	7	150174737	150174737	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:150174737G>A	ENST00000307271.3	+	5	2441	c.1867G>A	c.(1867-1869)Gat>Aat	p.D623N		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	623						endoplasmic reticulum|Golgi apparatus|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)		AAAGGTCAATGATCTGAGAAA	0.438000													10	153					0	0	1	0	0
PPP2R5C	5527	broad.mit.edu	37	14	102348516	102348516	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:102348516C>T	ENST00000422945.2	+	5	502	c.406C>T	c.(406-408)Cga>Tga	p.R136*	PPP2R5C_ENST00000350249.3_Nonsense_Mutation_p.R105*|PPP2R5C_ENST00000445439.3_Nonsense_Mutation_p.R105*|PPP2R5C_ENST00000557095.1_Nonsense_Mutation_p.R105*|PPP2R5C_ENST00000334743.5_Nonsense_Mutation_p.R105*|PPP2R5C_ENST00000328724.5_Nonsense_Mutation_p.R160*	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	105					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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	p.R105*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TAACATGTTTCGAACATTACC	0.393000													3	26					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168100393	168100393	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:168100393G>A	ENST00000409195.1	+	9	2580	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	XIRP2_ENST00000295237.9_Missense_Mutation_p.E831K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E609K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	656					actin cytoskeleton organization	cell junction	actin binding	p.E831K(1)		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						CATTGAAAAGGAAAAAATAAT	0.388000													18	116					0	0	1	0	0
PDE1C	5137	broad.mit.edu	37	7	32109988	32109988	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:32109988C>T	ENST00000396184.3	-	2	222	c.18G>A	c.(16-18)aaG>aaA	p.K6K	PDE1C_ENST00000396182.2_Silent_p.K6K|PDE1C_ENST00000321453.7_Silent_p.K6K|PDE1C_ENST00000396191.1_Silent_p.K6K|PDE1C_ENST00000396193.1_Intron	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	6					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)			CTTCAATCTCCTTGGTTGGCG	0.537000													9	73					0	0	1	0	0
IGSF10	285313	broad.mit.edu	37	3	151154954	151154954	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:151154954T>A	ENST00000282466.3	-	6	7394	c.7395A>T	c.(7393-7395)aaA>aaT	p.K2465N	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2465	Ig-like C2-type 11.				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)			GCATAGTCCATTTGATATTTG	0.403000													16	218					0	0	1	0	0
RPH3A	22895	broad.mit.edu	37	12	113327843	113327843	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:113327843G>A	ENST00000389385.4	+	18	2075	c.1578G>A	c.(1576-1578)ggG>ggA	p.G526G	RPH3A_ENST00000551052.1_Silent_p.G522G|RPH3A_ENST00000447659.2_Silent_p.G477G|RPH3A_ENST00000415485.3_Silent_p.G526G|RPH3A_ENST00000543106.2_Silent_p.G526G|RPH3A_ENST00000548866.1_Silent_p.G477G|RPH3A_ENST00000420983.2_Silent_p.G526G|RPH3A_ENST00000549913.2_3'UTR	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	526					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AACGTGCTGGGACCACCGGGT	0.493000													11	258					0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30889744	30889744	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:30889744C>T	ENST00000321897.5	+	18	2410	c.1778C>T	c.(1777-1779)cCc>cTc	p.P593L	VARS2_ENST00000541562.1_Missense_Mutation_p.P623L|VARS2_ENST00000476162.1_Intron|VARS2_ENST00000542001.1_Missense_Mutation_p.P453L|VARS2_ENST00000416670.2_Missense_Mutation_p.P593L			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	593					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GCCCTGTTCCCCTTTTCTGCC	0.552000													12	147					0	0	1	0	0
TRPC7	57113	broad.mit.edu	37	5	135692878	135692878	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:135692878G>A	ENST00000513104.1	-	2	480	c.198C>T	c.(196-198)tcC>tcT	p.S66S	TRPC7_ENST00000426057.2_Silent_p.S66S|TRPC7_ENST00000355180.3_Silent_p.S66S	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	66					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TAAGGGTCTTGGACTCCTCCA	0.592000													16	153					0	0	1	0	0
MAGI2	9863	broad.mit.edu	37	7	77975261	77975261	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:77975261G>A	ENST00000354212.4	-	8	1456	c.1203C>T	c.(1201-1203)ccC>ccT	p.P401P	MAGI2_ENST00000536571.1_Silent_p.P233P|MAGI2_ENST00000522391.1_Silent_p.P401P|MAGI2_ENST00000535697.1_Silent_p.P238P|MAGI2_ENST00000419488.1_Silent_p.P401P	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	401						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)				GGGCCTGCAGGGGCTTTGTTC	0.448000													7	111					0	0	1	0	0
SLC5A9	200010	broad.mit.edu	37	1	48690437	48690437	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:48690437C>T	ENST00000236495.5	+	2	254	c.204C>T	c.(202-204)ttC>ttT	p.F68F	SLC5A9_ENST00000533824.1_Silent_p.F68F|SLC5A9_ENST00000420136.2_Silent_p.F61F|SLC5A9_ENST00000438567.2_Silent_p.F68F	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	68						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						GCGGCTATTTCCTGGCCGGGA	0.552000													12	85					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30934637	30934637	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:30934637C>T	ENST00000355537.3	+	2	315	c.168C>T	c.(166-168)ccC>ccT	p.P56P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	56					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)					GGCCCAACCCCGAGGAGAAGC	0.677000													8	87					0	0	1	0	0
ZNF454	285676	broad.mit.edu	37	5	178392081	178392081	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:178392081C>T	ENST00000320129.3	+	5	979	c.676C>T	c.(676-678)Cac>Tac	p.H226Y	ZNF454_ENST00000519564.1_Missense_Mutation_p.H226Y	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|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;0.234)		GAAAGCCTTTCACCAGAGTAC	0.373000													6	103					0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51697238	51697238	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:51697238C>T	ENST00000409535.1	+	22	4331	c.4206C>T	c.(4204-4206)tcC>tcT	p.S1402S	RAD54L2_ENST00000296477.3_Silent_p.S1096S	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	1402						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CTTTTCCTTCCCCTGTCTTGC	0.577000													17	96					0	0	1	0	0
FSIP2	401024	broad.mit.edu	37	2	186669996	186669996	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:186669996G>A	ENST00000343098.5	+	17	16230	c.16230G>A	c.(16228-16230)agG>agA	p.R5410R	FSIP2_ENST00000424728.1_Silent_p.R5321R	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						CTCTGATAAGGGAATTTAAGA	0.299000													6	112					0	0	1	0	0
ABCA13	154664	broad.mit.edu	37	7	48311797	48311797	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:48311797G>A	ENST00000435803.1	+	17	2558	c.2534G>A	c.(2533-2535)gGa>gAa	p.G845E		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	845					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						ATTTCAAAAGGAAAAAGAGCT	0.289000													7	65					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62739406	62739406	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:62739406C>T	ENST00000383710.4	-	3	947	c.598G>A	c.(598-600)Gga>Aga	p.G200R	CADPS_ENST00000283269.9_Missense_Mutation_p.G200R|CADPS_ENST00000357948.3_Missense_Mutation_p.G200R|CADPS_ENST00000490353.2_Missense_Mutation_p.G200R	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	200					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GAACAGCCTCCACTCTGAACC	0.557000													5	56					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61511130	61511130	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:61511130C>T	ENST00000266070.4	-	16	6503	c.6178G>A	c.(6178-6180)Gag>Aag	p.E2060K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E2060K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2060					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCGTCGGCCTCGGGGCCCTGT	0.687000													12	146					0	0	1	0	0
SIK1	150094	broad.mit.edu	37	21	44841227	44841227	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr21:44841227A>T	ENST00000270162.6	-	6	652	c.520T>A	c.(520-522)Tac>Aac	p.Y174N		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	174	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CCTGACTTGTAGAAATTCCCA	0.557000													9	120					0	0	1	0	0
C1orf64	149563	broad.mit.edu	37	1	16332590	16332590	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:16332590G>A	ENST00000329454.2	+	2	327	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K		NM_178840.2	NP_849162.1	Q8NEQ6	CA064_HUMAN	chromosome 1 open reading frame 64	87										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		GTTCTGTGGGGAAAACTGGCC	0.647000													17	134					0	0	1	0	0
OR13H1	347468	broad.mit.edu	37	X	130678233	130678233	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:130678233C>T	ENST00000338616.3	+	1	284	c.186C>T	c.(184-186)ttC>ttT	p.F62F		NM_001004486.1	NP_001004486.1	Q8NG92	O13H1_HUMAN	olfactory receptor, family 13, subfamily H, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TCTACTTCTTCCTTAGTAACC	0.433000													15	84					0	0	1	0	0
ZNF331	55422	broad.mit.edu	37	19	54074956	54074956	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:54074956G>A	ENST00000253144.9	+	6	1441	c.108G>A	c.(106-108)ctG>ctA	p.L36L	ZNF331_ENST00000513999.1_Silent_p.L36L|ZNF331_ENST00000511154.1_Silent_p.L36L|ZNF331_ENST00000513265.1_Silent_p.L36L|ZNF331_ENST00000512387.1_Silent_p.L36L|ZNF331_ENST00000511593.2_Silent_p.L36L|ZNF331_ENST00000449416.1_Silent_p.L36L|ZNF331_ENST00000411977.2_Silent_p.L36L	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L36L(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		ACGTGATGCTGGAGAACTACA	0.537000			T	?	follicular thyroid adenoma								10	239					0	0	1	0	0
PRRC2A	7916	broad.mit.edu	37	6	31601243	31601243	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:31601243C>T	ENST00000376033.2	+	17	4641	c.4407C>T	c.(4405-4407)atC>atT	p.I1469I	PRRC2A_ENST00000376007.4_Silent_p.I1469I	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1469	4 X 57 AA type A repeats.					cytoplasm|nucleus	protein binding			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						ACCAAGTTATCCACAGCAACC	0.622000													6	63					0	0	1	0	0
SLC7A11	23657	broad.mit.edu	37	4	139140446	139140446	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:139140446A>T	ENST00000280612.5	-	5	999	c.720T>A	c.(718-720)taT>taA	p.Y240*		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	240					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	ACATTCCATAATAAAAAGCCA	0.403000													6	80					0	0	1	0	0
LILRA3	11026	broad.mit.edu	37	19	54803031	54803031	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:54803031C>T	ENST00000391745.1	-	8	1013	c.697G>A	c.(697-699)Ggg>Agg	p.G233R	LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000251390.3_Missense_Mutation_p.G216R					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACCAGGAGCCCCAGGAGATCA	0.627000													10	57					0	0	1	0	0
IFT140	9742	broad.mit.edu	37	16	1621509	1621509	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:1621509G>A	ENST00000426508.2	-	14	1914	c.1551C>T	c.(1549-1551)ttC>ttT	p.F517F	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	517										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)				CAGTCTCCGAGAAAAGGAGGA	0.428000													14	77					0	0	1	0	0
MAP3K19	80122	broad.mit.edu	37	2	135745407	135745407	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:135745407C>T	ENST00000375845.3	-	7	1065	c.1035G>A	c.(1033-1035)agG>agA	p.R345R	MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Silent_p.R362R|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000392918.3_Intron|MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Silent_p.R232R	NM_025052.3	NP_079328.3			mitogen-activated protein kinase kinase kinase 19									p.R345R(1)									TATCCTCTTCCCTAACTGCAG	0.363000													5	78					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179638385	179638385	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:179638385C>T	ENST00000444136.1	+	17	2956	c.2706C>T	c.(2704-2706)ttC>ttT	p.F902F	TDRD5_ENST00000367614.1_Silent_p.F848F|TDRD5_ENST00000294848.8_Silent_p.F848F	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	862					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						TGGAAGAATTCTGTACCTCTC	0.453000													10	138					0	0	1	0	0
EPHA4	2043	broad.mit.edu	37	2	222428816	222428816	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:222428816C>T	ENST00000281821.2	-	3	499	c.458G>A	c.(457-459)aGc>aAc	p.S153N	EPHA4_ENST00000409938.1_Missense_Mutation_p.S153N|EPHA4_ENST00000392071.4_Missense_Mutation_p.S102N|EPHA4_ENST00000409854.1_Missense_Mutation_p.S153N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	153						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTGGGTGAAGCTCTCATCAGC	0.448000													25	183					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171486926	171486926	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:171486926C>T	ENST00000367742.3	+	6	965	c.723C>T	c.(721-723)tcC>tcT	p.S241S	PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000338920.4_Silent_p.S239S|PRRC2C_ENST00000426496.2_Silent_p.S239S|PRRC2C_ENST00000392078.3_Silent_p.S241S			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	239							protein C-terminus binding										CTCTCGCTTCCCAGTATAGAG	0.433000													6	45					0	0	1	0	0
CHMP2B	25978	broad.mit.edu	37	3	87289879	87289879	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:87289879G>A	ENST00000263780.4	+	2	303	c.65G>A	c.(64-66)cGa>cAa	p.R22Q	CHMP2B_ENST00000471660.1_Intron|CHMP2B_ENST00000494980.1_Missense_Mutation_p.R22Q|CHMP2B_ENST00000472024.1_3'UTR	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	22					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CGAGAGTTACGAGGTACACAG	0.323000													5	89					0	0	1	0	0
DAB2IP	153090	broad.mit.edu	37	9	124535245	124535245	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:124535245C>T	ENST00000408936.3	+	12	2620	c.2438C>T	c.(2437-2439)tCc>tTc	p.S813F	DAB2IP_ENST00000259371.2_Missense_Mutation_p.S785F|DAB2IP_ENST00000309989.1_Missense_Mutation_p.S689F			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	813					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CCAGGCACCTCCGAGGGCGCG	0.726000													4	40					0	0	1	0	0
PLG	5340	broad.mit.edu	37	6	161152886	161152886	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:161152886C>T	ENST00000308192.9	+	12	1611	c.1548C>T	c.(1546-1548)ttC>ttT	p.F516F		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	516	Kringle 5.				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			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)	ACAGCATTTTCACTCCAGAGA	0.512000													12	111					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197297888	197297888	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:197297888G>A	ENST00000367400.3	+	2	542	c.407G>A	c.(406-408)tGc>tAc	p.C136Y	CRB1_ENST00000535699.1_Missense_Mutation_p.C67Y|CRB1_ENST00000367399.2_Missense_Mutation_p.C136Y|CRB1_ENST00000538660.1_Missense_Mutation_p.C136Y	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	136	EGF-like 3.				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						GTCTGCATCTGCCCTGCTGGA	0.498000													9	45					0	0	1	0	0
MPL	4352	broad.mit.edu	37	1	43818270	43818270	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:43818270C>T	ENST00000372470.3	+	12	1777	c.1735C>T	c.(1735-1737)Cct>Tct	p.P579S		NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	579					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGAGAGGACTCCTTTGCCCCT	0.582000			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						6	65					0	0	1	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94879518	94879518	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:94879518G>A	ENST00000289495.5	+	8	2497	c.2281G>A	c.(2281-2283)Gaa>Aaa	p.E761K	PPP1R9A_ENST00000433881.1_Missense_Mutation_p.E761K|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.E761K|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.E761K|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.E761K|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.E783K	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	761	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCAGGCCTTGGAAAAGAAATA	0.373000										HNSCC(28;0.073)			11	57					0	0	1	0	0
RSU1P2	100133308	broad.mit.edu	37	10	45602133	45602133	+	RNA	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:45602133C>T	ENST00000423875.1	-	0	1303																											GTAAGCTCCCCAATTTCCTTA	0.433000													6	22					0	0	1	0	0
USP35	57558	broad.mit.edu	37	11	77917056	77917056	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:77917056C>T	ENST00000529308.1	+	7	1627	c.1366C>T	c.(1366-1368)Ctt>Ttt	p.L456F	USP35_ENST00000526425.1_Missense_Mutation_p.L187F|USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Missense_Mutation_p.L24F|USP35_ENST00000441408.2_Silent_p.S40S	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	456					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CAACAGCATCCTTCAGGCCTT	0.552000													26	385					0	0	1	0	0
ANKZF1	55139	broad.mit.edu	37	2	220098053	220098053	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:220098053G>A	ENST00000323348.5	+	7	891	c.717G>A	c.(715-717)cgG>cgA	p.R239R	ANKZF1_ENST00000410034.3_Silent_p.R239R|ANKZF1_ENST00000409849.1_Silent_p.R29R	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	239						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATACGGTTCGGGCCAAGCGGG	0.567000													11	129					0	0	1	0	0
GPR113	165082	broad.mit.edu	37	2	26533598	26533598	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:26533598C>T	ENST00000333478.6	-	8	2983	c.2401G>A	c.(2401-2403)Gtc>Atc	p.V801I	GPR113_ENST00000541401.1_Missense_Mutation_p.V603I|GPR113_ENST00000311519.1_Missense_Mutation_p.V1000I|GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000421160.2_Missense_Mutation_p.V931I	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	1000					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAATGAGGGACCGTGGAGACT	0.532000													8	24					0	0	1	0	0
GLDN	342035	broad.mit.edu	37	15	51689713	51689713	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:51689713C>T	ENST00000335449.6	+	6	791	c.735C>T	c.(733-735)ggC>ggT	p.G245G	GLDN_ENST00000396399.2_Silent_p.G121G	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	245	Pro-rich.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		GGCCCCCAGGCCCTCCAGGTC	0.637000													11	39					0	0	1	0	0
GPATCH8	23131	broad.mit.edu	37	17	42477964	42477964	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:42477964C>T	ENST00000434000.1	-	9	1529	c.1247G>A	c.(1246-1248)aGt>aAt	p.S416N	GPATCH8_ENST00000591680.1_Missense_Mutation_p.S494N			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	494						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ACTTTCTAAACTCTGATCACT	0.498000											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	167					0	0	1	0	0
EMILIN2	84034	broad.mit.edu	37	18	2890866	2890866	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:2890866G>A	ENST00000254528.3	+	4	900	c.741G>A	c.(739-741)caG>caA	p.Q247Q		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	247					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)		AAACGGGCCAGAGTCCTGGTG	0.507000													11	95					0	0	1	0	0
SATL1	340562	broad.mit.edu	37	X	84362877	84362877	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:84362877C>T	ENST00000509231.1	-	1	1177	c.1098G>A	c.(1096-1098)acG>acA	p.T366T	SATL1_ENST00000332921.5_Silent_p.T179T|SATL1_ENST00000395409.3_Silent_p.T179T			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	179	N-acetyltransferase.|Substrate binding (By similarity).						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTGCTTGGCTCGTGCTTGATT	0.532000													7	46					0	0	1	0	0
PCDHA11	56138	broad.mit.edu	37	5	140249574	140249574	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140249574C>T	ENST00000398640.2	+	1	886	c.886C>T	c.(886-888)Caa>Taa	p.Q296*	PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACACTAGATCAAAATAATGG	0.383000													3	29					0	0	1	0	0
PPP1R11	6992	broad.mit.edu	37	6	30037058	30037058	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:30037058C>T	ENST00000376772.3	+	3	679	c.356C>T	c.(355-357)cCc>cTc	p.P119L	PPP1R11_ENST00000376758.1_Missense_Mutation_p.P67L|PPP1R11_ENST00000376765.2_Missense_Mutation_p.P67L|PPP1R11_ENST00000376763.1_Missense_Mutation_p.P67L|PPP1R11_ENST00000376769.2_Missense_Mutation_p.P67L|PPP1R11_ENST00000376773.1_Missense_Mutation_p.P67L	NM_021959.2	NP_068778.1	O60927	PP1RB_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 11	119	Pro-rich.					soluble fraction	protein binding|protein phosphatase inhibitor activity			lung(2)|ovary(1)|prostate(1)|skin(2)	6						CCTTCCCAGCCCCCTCCAGGG	0.612000													5	102					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20198403	20198403	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:20198403G>A	ENST00000400331.5	-	5	1889	c.1581C>T	c.(1579-1581)atC>atT	p.I527I	MACC1_ENST00000589011.1_Silent_p.I527I|MACC1_ENST00000332878.4_Silent_p.I527I	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	527					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						GAGCAGACTTGATTTCCTCCT	0.408000													19	166					0	0	1	0	0
BRWD1	54014	broad.mit.edu	37	21	40568855	40568855	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr21:40568855G>A	ENST00000342449.3	-	41	6218	c.6140C>T	c.(6139-6141)tCc>tTc	p.S2047F	BRWD1_ENST00000333229.2_Missense_Mutation_p.S2047F|BRWD1_ENST00000380800.3_Missense_Mutation_p.S2047F	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2047					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGTAACAGAGGAACTTTTTCT	0.378000													22	182					0	0	1	0	0
BMP3	651	broad.mit.edu	37	4	81967607	81967607	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:81967607G>A	ENST00000282701.2	+	2	1352	c.1032G>A	c.(1030-1032)cgG>cgA	p.R344R		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	344					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GGCCTCATCGGAAGAGCCAGA	0.498000													8	98					0	0	1	0	0
ANO3	63982	broad.mit.edu	37	11	26620447	26620447	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:26620447G>A	ENST00000256737.3	+	16	2425	c.1573G>A	c.(1573-1575)Gag>Aag	p.E525K	ANO3_ENST00000525139.1_Missense_Mutation_p.E509K|ANO3_ENST00000531568.1_Missense_Mutation_p.E379K|ANO3_ENST00000537978.1_Missense_Mutation_p.E509K	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	525						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						TTACAAGATGGAGATTGTAAA	0.393000													8	44					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23825128	23825128	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:23825128A>C	ENST00000354639.3	+	18	2575	c.2111A>C	c.(2110-2112)gAa>gCa	p.E704A	STK31_ENST00000428484.1_Missense_Mutation_p.E704A|STK31_ENST00000355870.3_Missense_Mutation_p.E727A|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E727A	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	727							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						ATGAGCTTGGAACGAGATCTT	0.398000													12	147					0	0	1	0	0
CCNT1	904	broad.mit.edu	37	12	49087539	49087539	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:49087539G>A	ENST00000261900.3	-	9	1680	c.1458C>T	c.(1456-1458)gtC>gtT	p.V486V		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	486					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CTGCAGCATGGACTTTTATGC	0.433000													22	290					0	0	1	0	0
TMEM176A	55365	broad.mit.edu	37	7	150501930	150501930	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:150501930G>A	ENST00000484928.1	+	7	1263	c.682G>A	c.(682-684)Gaa>Aaa	p.E228K	TMEM176A_ENST00000004103.3_Missense_Mutation_p.E228K|TMEM176A_ENST00000461345.1_Missense_Mutation_p.E169K			Q96HP8	T176A_HUMAN	transmembrane protein 176A	228						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGACCAGAAGGAAATGTTGGA	0.522000													16	117					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56467306	56467306	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:56467306G>A	ENST00000291971.3	+	3	1953	c.1882G>A	c.(1882-1884)Gat>Aat	p.D628N	NLRP8_ENST00000590542.1_Missense_Mutation_p.D628N	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	628						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		AGCCCTAAATGATTATCATAA	0.458000													7	105					0	0	1	0	0
CCR1	1230	broad.mit.edu	37	3	46245706	46245706	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:46245706C>T	ENST00000296140.3	-	2	224	c.99G>A	c.(97-99)ggG>ggA	p.G33G	CCR3_ENST00000357422.2_Intron	NM_001295.2	NP_001286.1	P32246	CCR1_HUMAN	chemokine (C-C motif) receptor 1	33					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|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)		GCAGTTGGGCCCCAAAGGCCC	0.522000													5	61					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50758484	50758484	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:50758484G>A	ENST00000404971.1	-	12	3687	c.2348C>T	c.(2347-2349)tCc>tTc	p.S783F	NRXN1_ENST00000401669.2_Missense_Mutation_p.S743F|NRXN1_ENST00000406859.3_Missense_Mutation_p.S743F|NRXN1_ENST00000406316.2_Missense_Mutation_p.S743F|NRXN1_ENST00000405472.3_Missense_Mutation_p.S735F|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.S735F	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	743	Laminin G-like 4.				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)			GAACCGTAAGGAAACATCCTC	0.512000													5	21					0	0	1	0	0
NAA11	84779	broad.mit.edu	37	4	80246768	80246768	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:80246768C>T	ENST00000286794.4	-	1	436	c.264G>A	c.(262-264)caG>caA	p.Q88Q		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	88	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						CCATCAGCTTCTGGGCCAGGC	0.567000													7	93					0	0	1	0	0
KIF2B	84643	broad.mit.edu	37	17	51900950	51900950	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:51900950G>A	ENST00000268919.4	+	1	712	c.556G>A	c.(556-558)Gaa>Aaa	p.E186K		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	186					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCCCAACTACGAAATCATGCA	0.567000													11	100					0	0	1	0	0
GAL3ST1	9514	broad.mit.edu	37	22	30950970	30950970	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:30950970C>T	ENST00000402321.1	-	3	1559	c.1242G>A	c.(1240-1242)tgG>tgA	p.W414*	GAL3ST1_ENST00000406955.1_Nonsense_Mutation_p.W414*|GAL3ST1_ENST00000402369.1_Nonsense_Mutation_p.W414*|GAL3ST1_ENST00000401975.1_Nonsense_Mutation_p.W414*|GAL3ST1_ENST00000338911.5_Nonsense_Mutation_p.W414*|GAL3ST1_ENST00000406361.1_Nonsense_Mutation_p.W414*|GAL3ST1_ENST00000443111.2_Nonsense_Mutation_p.W414*			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	414					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GAATGAACTTCCAGAGCTTGG	0.677000													6	51					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33135275	33135275	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:33135275G>A	ENST00000306065.4	-	5	639	c.481C>T	c.(481-483)Cga>Tga	p.R161*	ANKRD27_ENST00000587352.1_Nonsense_Mutation_p.R161*	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	161				HRTFRECERKSLRHHI -> LIEHSENARERASVTT (in Ref. 4; AAQ04657).	early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CGGAATGTTCGATGGAAAGAG	0.537000													80	307					0	0	1	0	0
YPEL3	83719	broad.mit.edu	37	16	30106448	30106448	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:30106448C>T	ENST00000562641.1	-	2	780	c.251G>A	c.(250-252)gGg>gAg	p.G84E	YPEL3_ENST00000398838.4_Missense_Mutation_p.G46E|YPEL3_ENST00000565479.1_5'UTR|YPEL3_ENST00000398841.1_Missense_Mutation_p.G84E|YPEL3_ENST00000563788.1_Missense_Mutation_p.G46E|YPEL3_ENST00000566595.1_Missense_Mutation_p.G46E|YPEL3_ENST00000566134.1_Missense_Mutation_p.G46E			P61236	YPEL3_HUMAN	yippee-like 3 (Drosophila)	46						nucleolus				endometrium(1)|lung(2)	3						GTAGGCACGCCCCTGACTGCC	0.607000													8	35					0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38860670	38860670	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:38860670C>T	ENST00000409235.3	+	27	3194	c.3079C>T	c.(3079-3081)Cct>Tct	p.P1027S	CATSPERG_ENST00000410018.1_Missense_Mutation_p.P987S|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1027					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CATCTTTGCCCCTGAATTCTT	0.552000													31	172					0	0	1	0	0
GDF3	9573	broad.mit.edu	37	12	7843048	7843048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:7843048C>T	ENST00000329913.3	-	2	568	c.521G>A	c.(520-522)tGg>tAg	p.W174*		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	174					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						ACCTTGTGGCCATGGGACTGA	0.517000													14	103					0	0	1	0	0
PIK3R6	146850	broad.mit.edu	37	17	8738707	8738707	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:8738707G>A	ENST00000311434.9	-	8	767	c.528C>T	c.(526-528)atC>atT	p.I176I	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	176					platelet activation	cytosol											GGGCCGCCTCGATCTCCAGTA	0.652000													4	24					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164700075	164700075	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:164700075C>T	ENST00000264382.3	-	47	5433	c.5371G>A	c.(5371-5373)Gga>Aga	p.G1791R		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1791	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.G1791>?(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTTTTATTTCCGTTATACGTT	0.353000										HNSCC(35;0.089)			5	33					0	0	1	0	0
KCNMB2	10242	broad.mit.edu	37	3	178546111	178546111	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:178546111G>A	ENST00000432997.1	+	4	725	c.373G>A	c.(373-375)Gaa>Aaa	p.E125K	RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000358316.3_Missense_Mutation_p.E125K|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.E125K|KCNMB2_ENST00000420517.2_Missense_Mutation_p.E125K|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	125					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			TTCTTCCGGGGAAAAGCTCCT	0.478000													12	42					0	0	1	0	0
SLC35F3	148641	broad.mit.edu	37	1	234458812	234458812	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:234458812C>T	ENST00000366618.3	+	8	1441	c.1296C>T	c.(1294-1296)atC>atT	p.I432I	SLC35F3_ENST00000366617.3_Silent_p.I363I	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	363					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TCGCCATCATCATCATCGGCC	0.547000													15	62					0	0	1	0	0
KCNB2	9312	broad.mit.edu	37	8	73848207	73848207	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:73848207C>T	ENST00000523207.1	+	3	1205	c.617C>T	c.(616-618)tCc>tTc	p.S206F		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	206					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)			ATTGTGCTTTCCACCATTGCT	0.488000													29	209					0	0	1	0	0
SIPA1L3	23094	broad.mit.edu	37	19	38573180	38573180	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:38573180G>A	ENST00000222345.6	+	3	1484	c.975G>A	c.(973-975)cgG>cgA	p.R325R		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	325					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ACGAGGGCCGGAGCCCCCCGG	0.682000													7	31					0	0	1	0	0
PRRC2C	23215	broad.mit.edu	37	1	171486925	171486925	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:171486925C>T	ENST00000367742.3	+	6	964	c.722C>T	c.(721-723)tCc>tTc	p.S241F	PRRC2C_ENST00000476522.1_3'UTR|PRRC2C_ENST00000338920.4_Missense_Mutation_p.S239F|PRRC2C_ENST00000426496.2_Missense_Mutation_p.S239F|PRRC2C_ENST00000392078.3_Missense_Mutation_p.S241F			Q9Y520	PRC2C_HUMAN	proline-rich coiled-coil 2C	239							protein C-terminus binding										GCTCTCGCTTCCCAGTATAGA	0.438000													6	46					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1499771	1499771	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:1499771G>A	ENST00000345913.4	+	12	2108	c.2017G>A	c.(2017-2019)Gag>Aag	p.E673K	TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Missense_Mutation_p.E500K|TPO_ENST00000346956.3_Missense_Mutation_p.E673K|TPO_ENST00000382198.1_Missense_Mutation_p.E500K|TPO_ENST00000337415.3_Missense_Mutation_p.E673K|TPO_ENST00000329066.4_Missense_Mutation_p.E673K|TPO_ENST00000382201.3_Missense_Mutation_p.E616K	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	673					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GTTTTGGTGGGAGAACAGCCA	0.587000													3	34					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564815	46564815	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:46564815G>A	ENST00000458649.2	-	7	1170	c.752C>T	c.(751-753)tCt>tTt	p.S251F	AMBRA1_ENST00000534300.1_Missense_Mutation_p.S251F|AMBRA1_ENST00000298834.3_Missense_Mutation_p.S251F|AMBRA1_ENST00000533727.1_Missense_Mutation_p.S251F|AMBRA1_ENST00000426438.1_Missense_Mutation_p.S251F|AMBRA1_ENST00000528950.1_Missense_Mutation_p.S251F|AMBRA1_ENST00000314845.3_Missense_Mutation_p.S251F			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	251					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GATGCCAGAAGAGCGGGAGGA	0.617000													6	39					0	0	1	0	0
BEND4	389206	broad.mit.edu	37	4	42145871	42145871	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:42145871C>T	ENST00000502486.1	-	3	1207	c.628G>A	c.(628-630)Gaa>Aaa	p.E210K	BEND4_ENST00000504360.1_Missense_Mutation_p.E206K	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	210								p.E206K(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TCCTGTCTTTCGTTGTAACTT	0.443000													5	35					0	0	1	0	0
PYGB	5834	broad.mit.edu	37	20	25269070	25269070	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:25269070G>A	ENST00000216962.4	+	15	1888	c.1778G>A	c.(1777-1779)aGa>aAa	p.R593K		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	593					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GGAATCAAGAGAGACCCGGCC	0.602000													11	120					0	0	1	0	0
IGHV4-34	28395	broad.mit.edu	37	14	106829759	106829759	+	RNA	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:106829759C>T	ENST00000390616.2	-	0	234																											CCAGCCCCTTCCCTGGGGGCT	0.557000													22	144					0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52472963	52472963	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:52472963G>A	ENST00000231721.2	-	13	1481	c.1482C>T	c.(1480-1482)atC>atT	p.I494I		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	494	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CCATTTCGGTGATAGGTGTTG	0.617000													24	193					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45462086	45462086	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:45462086G>A	ENST00000303230.4	-	3	930	c.873C>T	c.(871-873)ctC>ctT	p.L291L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	291						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGCACTGGCGAGATCATATG	0.378000													9	38					0	0	1	0	0
OR2AG2	338755	broad.mit.edu	37	11	6789484	6789484	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:6789484C>T	ENST00000338569.2	-	1	802	c.705G>A	c.(703-705)aaG>aaA	p.K235K		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CAAGGGCTTTCTTCCTCCCCT	0.517000													5	64					0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77817360	77817360	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:77817360G>A	ENST00000334306.2	-	1	1642	c.1643C>T	c.(1642-1644)tCa>tTa	p.S548L		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	548																	AAGTTTTAGTGATAAACCTGC	0.617000													8	52					0	0	1	0	0
RAI2	10742	broad.mit.edu	37	X	17819691	17819691	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:17819691G>A	ENST00000545871.1	-	3	900	c.440C>T	c.(439-441)tCc>tTc	p.S147F	RAI2_ENST00000451717.1_Missense_Mutation_p.S147F|RAI2_ENST00000415486.3_Missense_Mutation_p.S97F|RAI2_ENST00000331511.1_Missense_Mutation_p.S147F|RAI2_ENST00000360011.1_Missense_Mutation_p.S147F	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	147					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)					GGTACTGGAGGAGCATGGGGC	0.672000													10	58					0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20685389	20685389	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:20685389C>T	ENST00000404938.2	+	8	1341	c.689C>T	c.(688-690)tCa>tTa	p.S230L		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	416			E -> V (in a colorectal cancer sample; somatic mutation).		regulation of membrane potential	apical plasma membrane|Golgi 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						ATGGTCATCTCATTGACCAGT	0.403000													24	84					0	0	1	0	0
COL4A4	1286	broad.mit.edu	37	2	227945211	227945211	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:227945211C>T	ENST00000396625.3	-	24	1958	c.1751G>A	c.(1750-1752)gGa>gAa	p.G584E	COL4A4_ENST00000329662.7_Missense_Mutation_p.G584E	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	584	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)		ACCATGTGATCCTGGCTGCCC	0.473000													22	123					0	0	1	0	0
OTOGL	283310	broad.mit.edu	37	12	80655764	80655764	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:80655764G>A	ENST00000458043.2	+	18	1884	c.1878G>A	c.(1876-1878)atG>atA	p.M626I	OTOGL_ENST00000547103.1_Missense_Mutation_p.M626I	NM_173591.3	NP_775862.3			otogelin-like									p.M626I(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CATCAGGCATGATAGAAGGTA	0.398000													4	59					0	0	1	0	0
KCND3	3752	broad.mit.edu	37	1	112524827	112524827	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:112524827C>T	ENST00000369697.1	-	1	591	c.522G>A	c.(520-522)gaG>gaA	p.E174E	KCND3_ENST00000302127.4_Silent_p.E174E|KCND3_ENST00000315987.2_Silent_p.E174E			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	174						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGTGGGGGTTCTCGAAGGCCC	0.627000													6	55					0	0	1	0	0
P2RY14	9934	broad.mit.edu	37	3	150931472	150931472	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:150931472C>T	ENST00000309170.3	-	3	945	c.633G>A	c.(631-633)aaG>aaA	p.K211K	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Silent_p.K211K	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	211						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity			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)			TAAAGATTTTCTTTGTGATAG	0.393000													14	133					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8991804	8991804	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:8991804C>T	ENST00000299698.7	+	10	1246	c.1066C>T	c.(1066-1068)Ccc>Tcc	p.P356S		NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	200						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TCCAAATTTCCCCTTCAGTGG	0.418000													6	49					0	0	1	0	0
MANBA	4126	broad.mit.edu	37	4	103571759	103571759	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:103571759G>A	ENST00000226578.4	-	13	1903	c.1804C>T	c.(1804-1806)Cat>Tat	p.H602Y	MANBA_ENST00000505239.1_Missense_Mutation_p.H545Y	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	602					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		AGTTTGAAATGAAGTCCAGCC	0.408000													17	146					0	0	1	0	0
OR4C11	219429	broad.mit.edu	37	11	55371344	55371344	+	Missense_Mutation	SNP	G	G	A	rs148062468	byFrequency	TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:55371344G>A	ENST00000302231.4	-	1	530	c.506C>T	c.(505-507)cCc>cTc	p.P169L		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AATCAAATAGGGTCCACAGAA	0.448000													6	108					0	0	1	0	0
INMT	11185	broad.mit.edu	37	7	30795310	30795310	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:30795310C>T	ENST00000013222.5	+	3	651	c.635C>T	c.(634-636)tCc>tTc	p.S212F	INMT_ENST00000484180.1_3'UTR|INMT-FAM188B_ENST00000458257.1_Intron|INMT_ENST00000409539.1_Missense_Mutation_p.S211F	NM_001199219.1|NM_006774.4	NP_001186148.1|NP_006765.4	O95050	INMT_HUMAN	indolethylamine N-methyltransferase	212						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						CGTGAATTTTCCTGCGTGGCC	0.597000													5	98					0	0	1	0	0
PCDHGA5	56110	broad.mit.edu	37	5	140745901	140745901	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140745901C>T	ENST00000518069.1	+	1	2004	c.2004C>T	c.(2002-2004)atC>atT	p.I668I	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGACAGGATCCCTGACATCC	0.612000													43	343					0	0	1	0	0
FREM1	158326	broad.mit.edu	37	9	14740157	14740157	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:14740157G>A	ENST00000380881.4	-	37	7148	c.6333C>T	c.(6331-6333)tcC>tcT	p.S2111S	FREM1_ENST00000380894.1_Silent_p.S646S|FREM1_ENST00000380880.3_Silent_p.S2110S|FREM1_ENST00000422223.2_Silent_p.S2110S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2110	C-type lectin.				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)		CTATCCAAAAGGACTTTCTCC	0.507000													15	72					0	0	1	0	0
TJP2	9414	broad.mit.edu	37	9	71863177	71863177	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:71863177C>T	ENST00000265384.7	+	19	2996	c.2917C>T	c.(2917-2919)Cct>Tct	p.P973S	TJP2_ENST00000539225.1_Intron|TJP2_ENST00000377245.4_Intron|TJP2_ENST00000348208.4_Intron|TJP2_ENST00000453658.2_Intron|TJP2_ENST00000535702.1_Intron	NM_001170630.1	NP_001164101.1	Q9UDY2	ZO2_HUMAN	tight junction protein 2	0					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						AACAGGAGAGCCTGGTGTTTT	0.632000													8	20					0	0	1	0	0
USP9X	8239	broad.mit.edu	37	X	41069763	41069763	+	Splice_Site	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:41069763C>T	ENST00000324545.7	+	33	5650	c.5015_splice	c.e33-1	p.L1673_splice	USP9X_ENST00000378308.2_Splice_Site_p.L1673_splice	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1673					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATTTCTTAGGCTTTGGGGTGA	0.328000													9	44					0	0	1	0	0
MUC17	140453	broad.mit.edu	37	7	100684875	100684875	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:100684875G>A	ENST00000306151.4	+	3	10242	c.10178G>A	c.(10177-10179)aGt>aAt	p.S3393N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3393	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)					CCAACCTCAAGTCCTAGTGAA	0.502000													106	772					0	0	1	0	0
COX7B2	170712	broad.mit.edu	37	4	46737015	46737015	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:46737015C>T	ENST00000396533.1	-	4	445	c.195G>A	c.(193-195)tgG>tgA	p.W65*	COX7B2_ENST00000355591.3_Nonsense_Mutation_p.W65*|COX7B2_ENST00000543208.1_Nonsense_Mutation_p.W64*|COX7B2_ENST00000302930.5_Nonsense_Mutation_p.W65*			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	65						integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			large_intestine(1)|lung(4)	5						GGGATAGGTTCCATTCTATTC	0.408000													12	78					0	0	1	0	0
PAPOLG	64895	broad.mit.edu	37	2	60995610	60995610	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:60995610C>T	ENST00000238714.3	+	4	501	c.252C>T	c.(250-252)ctC>ctT	p.L84L		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	84					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TTTAGAACCTCCCACCTTCTG	0.388000													5	73					0	0	1	0	0
PKM	5315	broad.mit.edu	37	15	72501045	72501045	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:72501045G>A	ENST00000319622.6	-	6	1209	c.753C>T	c.(751-753)gtC>gtT	p.V251V	PKM_ENST00000449901.2_Silent_p.V236V|PKM_ENST00000568883.1_Silent_p.V86V|PKM_ENST00000335181.5_Silent_p.V251V|PKM_ENST00000568459.1_Silent_p.V251V|PKM_ENST00000565154.1_Silent_p.V251V|PKM_ENST00000565184.1_Silent_p.V251V|PKM_ENST00000389093.3_Silent_p.V251V	NM_001206796.1|NM_182470.2|NM_182471.2	NP_001193725.1|NP_872270.1|NP_872271.1			pyruvate kinase, muscle											endometrium(1)|lung(7)	8						TAACTTCATGGACATCAGATG	0.502000													23	157					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	174974297	174974297	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:174974297G>A	ENST00000454872.1	+	4	1045	c.917G>A	c.(916-918)gGa>gAa	p.G306E	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS2_ENST00000424690.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	306					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)		CTGAAATTAGGAAAATTGCCA	0.358000													8	47					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100345790	100345790	+	RNA	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:100345790C>T	ENST00000542585.1	+	0	1202				ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						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)			TGGAAAGACCCCAGAGCCAGC	0.597000													6	39					0	0	1	0	0
PCDHA4	56144	broad.mit.edu	37	5	140188595	140188595	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140188595C>T	ENST00000530339.1	+	1	1823	c.1823C>T	c.(1822-1824)tCg>tTg	p.S608L	PCDHA4_ENST00000512229.2_Missense_Mutation_p.S608L|PCDHA4_ENST00000356878.4_Missense_Mutation_p.S608L|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGGCTTTCGTACGAGCTG	0.677000													17	106					0	0	1	0	0
REN	5972	broad.mit.edu	37	1	204129793	204129793	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:204129793G>A	ENST00000367195.2	-	4	430	c.387C>T	c.(385-387)ctC>ctT	p.L129L	REN_ENST00000272190.8_Silent_p.L129L			P00797	RENI_HUMAN	renin	129					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	AAGCATCGAAGAGCTTGTGAT	0.552000													16	107					0	0	1	0	0
PGR	5241	broad.mit.edu	37	11	100920694	100920694	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:100920694G>A	ENST00000325455.5	-	6	3907	c.2454C>T	c.(2452-2454)ttC>ttT	p.F818F	PGR_ENST00000534013.1_Silent_p.F224F|PGR_ENST00000263463.5_Silent_p.F716F	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN	progesterone receptor	818	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TCATACAGAGGAACTCTTCTT	0.358000													8	37					0	0	1	0	0
PCDHGA1	56114	broad.mit.edu	37	5	140711638	140711638	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140711638G>A	ENST00000517417.1	+	1	1387	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.E463K	NM_018912.2	NP_061735.1												p.E463K(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACATTCCCGAAAACAACCC	0.468000													12	148					0	0	1	0	0
HGD	3081	broad.mit.edu	37	3	120365844	120365844	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:120365844C>T	ENST00000283871.5	-	8	984	c.525G>A	c.(523-525)caG>caA	p.Q175Q		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	175					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TCTCATTGGGCTGTACAAGCA	0.473000													10	96					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102069104	102069104	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:102069104G>A	ENST00000549145.1	+	26	2962	c.2862G>A	c.(2860-2862)gaG>gaA	p.E954E	MYBPC1_ENST00000547405.1_Silent_p.E897E|MYBPC1_ENST00000361466.2_Silent_p.E948E|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000441232.1_Silent_p.E941E|MYBPC1_ENST00000392934.3_Silent_p.E910E|MYBPC1_ENST00000361685.2_Silent_p.E948E|MYBPC1_ENST00000547509.1_Silent_p.E909E|MYBPC1_ENST00000360610.2_Silent_p.E941E|MYBPC1_ENST00000452455.2_Silent_p.E941E|MYBPC1_ENST00000536007.1_Silent_p.E904E|MYBPC1_ENST00000550270.1_Silent_p.E941E|MYBPC1_ENST00000551300.1_Silent_p.E824E|MYBPC1_ENST00000553190.1_Silent_p.E923E|MYBPC1_ENST00000541119.1_Silent_p.E911E|MYBPC1_ENST00000545503.2_Silent_p.E923E			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	941	Fibronectin type-III 3.				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						TGAAGATTGAGGATGTCTGGG	0.458000													7	41					0	0	1	0	0
DCAF4L2	138009	broad.mit.edu	37	8	88886083	88886083	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:88886083G>A	ENST00000319675.3	-	1	213	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	39								p.F39F(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AATAGTTGGCGAATCTGAGGA	0.522000													29	72					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117822079	117822079	+	Silent	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:117822079A>G	ENST00000350763.4	-	14	4647	c.4236T>C	c.(4234-4236)ccT>ccC	p.P1412P	TNC_ENST00000423613.2_Silent_p.P1412P|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Silent_p.P1321P|TNC_ENST00000345230.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1412	Fibronectin type-III 9.				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						AGACTCTATAAGGCGTGGCAG	0.582000													17	188					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28992987	28992987	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:28992987A>T	ENST00000359747.4	+	15	2638	c.2609A>T	c.(2608-2610)gAa>gTa	p.E870V	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.E851V|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	851					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTAAACACAGAAATTGAACCA	0.393000													11	147					0	0	1	0	0
LOXL3	84695	broad.mit.edu	37	2	74777322	74777322	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:74777322T>C	ENST00000264094.3	-	3	538	c.467A>G	c.(466-468)aAt>aGt	p.N156S	LOXL3_ENST00000409249.1_Missense_Mutation_p.N156S|DOK1_ENST00000409429.1_Intron|LOXL3_ENST00000409549.1_Missense_Mutation_p.N156S|LOXL3_ENST00000393937.2_Missense_Mutation_p.N156S|LOXL3_ENST00000484369.1_5'UTR|LOXL3_ENST00000409986.1_Missense_Mutation_p.N156S	NM_032603.2	NP_115992.1	P58215	LOXL3_HUMAN	lysyl oxidase-like 3	156						extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CTCAATGACATTGGAGTCCGA	0.547000													8	163					0	0	1	0	0
SERPING1	710	broad.mit.edu	37	11	57379246	57379246	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:57379246C>T	ENST00000403558.1	+	6	1581	c.1215C>T	c.(1213-1215)aaC>aaT	p.N405N	SERPING1_ENST00000378323.4_Silent_p.N367N|SERPING1_ENST00000278407.4_Silent_p.N362N|SERPING1_ENST00000340687.6_Intron|SERPING1_ENST00000378324.2_Silent_p.N310N	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	362					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						TACCCCAGAACCTGAAACATC	0.498000													9	160					0	0	1	0	0
PTGS1	5742	broad.mit.edu	37	9	125145998	125145998	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:125145998G>A	ENST00000362012.2	+	8	978	c.973G>A	c.(973-975)Gag>Aag	p.E325K	PTGS1_ENST00000373698.5_Missense_Mutation_p.E216K|PTGS1_ENST00000540753.1_Missense_Mutation_p.E300K|PTGS1_ENST00000223423.4_Missense_Mutation_p.E325K	NM_000962.2|NM_001271164.1|NM_080591.1	NP_000953.2|NP_001258093.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	325					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|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	p.E325K(1)		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)|gamma-Homolinolenic acid(DB00154)|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)	CTGGGGCGATGAGCAGCTTTT	0.612000													8	50					0	0	1	0	0
ACAP1	9744	broad.mit.edu	37	17	7247063	7247063	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:7247063G>A	ENST00000158762.3	+	7	773	c.567G>A	c.(565-567)atG>atA	p.M189I	ACAP1_ENST00000573893.1_3'UTR	NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	189	BAR.|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						TTGACATCATGGAGTTTGTGA	0.537000													26	212					0	0	1	0	0
ARHGAP11A	9824	broad.mit.edu	37	15	32925188	32925188	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:32925188G>A	ENST00000361627.3	+	9	1836	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.D183N|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.D372N|ARHGAP11A_ENST00000563864.1_Intron|ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.D183N	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	372					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)		AGTTCACATCGATACAAGCTC	0.363000													23	118					0	0	1	0	0
DDX53	168400	broad.mit.edu	37	X	23018472	23018472	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:23018472G>A	ENST00000327968.5	+	1	386	c.298G>A	c.(298-300)Gaa>Aaa	p.E100K	RP11-40F8.2_ENST00000455399.1_RNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	100	KH.					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						TGGCAATAGGGAAATGAAAGC	0.378000													24	58					0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75428043	75428043	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:75428043C>T	ENST00000502798.2	+	2	910	c.468C>T	c.(466-468)ttC>ttT	p.F156F	SV2C_ENST00000322285.7_Silent_p.F156F	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	156					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CCCTTTTCTTCGTCCTGGGCA	0.507000													13	105					0	0	1	0	0
KIF3B	9371	broad.mit.edu	37	20	30919055	30919055	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:30919055C>T	ENST00000375712.3	+	9	2344	c.2177C>T	c.(2176-2178)tCc>tTc	p.S726F	KIF3B_ENST00000418717.2_Missense_Mutation_p.S352F	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	726	Globular.|Poly-Ser.				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|plus-end-directed microtubule motor activity|Rho GTPase binding			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)			TCGGGATCCTCCTCCTCTTCC	0.502000													7	57					0	0	1	0	0
AMPH	273	broad.mit.edu	37	7	38431387	38431387	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:38431387C>A	ENST00000356264.2	-	19	2055	c.1840G>T	c.(1840-1842)Gag>Tag	p.E614*	AMPH_ENST00000428293.2_Nonsense_Mutation_p.E572*|AMPH_ENST00000325590.5_Nonsense_Mutation_p.E572*	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	614					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						TGAGAGGCCTCCCTTGCAGAT	0.522000													11	84					0.0135373	0.013593	1	1	0
SRPX	8406	broad.mit.edu	37	X	38019392	38019392	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:38019392T>C	ENST00000378533.3	-	7	939	c.833A>G	c.(832-834)gAc>gGc	p.D278G	SRPX_ENST00000544439.1_Missense_Mutation_p.D258G|SRPX_ENST00000432886.2_Missense_Mutation_p.D219G|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Missense_Mutation_p.D265G|SRPX_ENST00000538295.1_Missense_Mutation_p.D278G	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	278	Sushi 3.				cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						ATTATCACCGTCGCTGGAGCA	0.552000													7	19					0	0	1	0	0
C19orf26	255057	broad.mit.edu	37	19	1235004	1235004	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:1235004G>A	ENST00000590083.1	-	5	743	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C	C19orf26_ENST00000215376.6_Missense_Mutation_p.R145C|C19orf26_ENST00000382477.2_Intron			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	145						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		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)		GCTTACCGGCGACCCTTGTCC	0.701000										HNSCC(14;0.022)			3	31					0	0	1	0	0
MYH1	4619	broad.mit.edu	37	17	10415819	10415819	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:10415819G>A	ENST00000226207.5	-	12	1147	c.1053C>T	c.(1051-1053)tcC>tcT	p.S351S	CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	351	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP 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						GCTTATAGATGGACACTCTTT	0.438000													14	117					0	0	1	0	0
SGCA	6442	broad.mit.edu	37	17	48244987	48244987	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:48244987G>A	ENST00000262018.3	+	3	238	c.202G>A	c.(202-204)Gga>Aga	p.G68R	SGCA_ENST00000543315.1_Missense_Mutation_p.G68R|SGCA_ENST00000451235.2_Intron|SGCA_ENST00000513942.1_Intron|SGCA_ENST00000344627.6_Missense_Mutation_p.G68R	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	68			G -> E (in LGMD2D).		muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CCACCTCCAGGGACACCCAGA	0.672000													4	66					0	0	1	0	0
DST	667	broad.mit.edu	37	6	56473718	56473718	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:56473718G>A	ENST00000370754.5	-	39	5608	c.5609C>T	c.(5608-5610)tCc>tTc	p.S1870F	DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.S1366F|DST_ENST00000361203.3_Missense_Mutation_p.S1692F|DST_ENST00000370769.4_Missense_Mutation_p.S1692F|DST_ENST00000312431.6_Missense_Mutation_p.S1692F			Q03001	DYST_HUMAN	dystonin	1692					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TAATGCTGAGGAAACCAAGTT	0.403000													8	130					0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310002	56310002	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:56310002C>T	ENST00000528616.2	-	1	755	c.732G>A	c.(730-732)atG>atA	p.M244I		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TGACAGCCATCATATGGGAAC	0.448000													5	84					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66946255	66946255	+	Missense_Mutation	SNP	C	C	T	rs147611353		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:66946255C>T	ENST00000299752.4	-	12	1631	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	CDH16_ENST00000565796.1_Missense_Mutation_p.E480K|CDH16_ENST00000568632.1_Missense_Mutation_p.E383K|CDH16_ENST00000570262.1_Missense_Mutation_p.E400K|CDH16_ENST00000394055.3_Missense_Mutation_p.E480K	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	480	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		AAGGCGGGCTCGAGGTCAGCA	0.577000													16	102					0	0	1	0	0
OR2F1	26211	broad.mit.edu	37	7	143657506	143657506	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:143657506C>T	ENST00000392899.1	+	1	480	c.443C>T	c.(442-444)tCc>tTc	p.S148F		NM_012369.2	NP_036501.2	Q13607	OR2F1_HUMAN	olfactory receptor, family 2, subfamily F, member 1 (gene/pseudogene)	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					GCCATCACATCCTGGGTCAGT	0.532000													17	118					0	0	1	0	0
ELFN2	114794	broad.mit.edu	37	22	37769187	37769187	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:37769187G>A	ENST00000402918.1	-	3	3173	c.2388C>T	c.(2386-2388)gtC>gtT	p.V796V	RP1-63G5.5_ENST00000430883.1_RNA|ELFN2_ENST00000349653.3_Silent_p.V796V	NM_052906.3	NP_443138.2	Q5R3F8	LRFN6_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 2	796						cell surface|integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	35	Melanoma(58;0.0574)					TGGCGAACTGGACCTTCTTGC	0.627000													6	71					0	0	1	0	0
C2orf40	84417	broad.mit.edu	37	2	106690491	106690491	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:106690491G>A	ENST00000409944.1	+	4	400	c.169G>A	c.(169-171)Gac>Aac	p.D57N	C2orf40_ENST00000489174.1_3'UTR|C2orf40_ENST00000238044.3_Missense_Mutation_p.D93N			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	93						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						CATGGGCTTTGACGAAGCGGT	0.607000													9	115					0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27158127	27158127	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:27158127G>A	ENST00000380036.4	+	2	793	c.351G>A	c.(349-351)aaG>aaA	p.K117K	TEK_ENST00000406359.4_Silent_p.K117K|TEK_ENST00000519097.1_Intron	NM_000459.3	NP_000450.2	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	117	Ig-like C2-type 1.		K -> N (in breast cancer samples; infiltrating ductal carcinoma; somatic mutation).		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	p.K117N(2)		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)		GAACCATGAAGATGCGTCAAC	0.493000													9	108					0	0	1	0	0
CD8B	926	broad.mit.edu	37	2	87085229	87085229	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:87085229G>A	ENST00000390655.6	-	2	412	c.354C>T	c.(352-354)atC>atT	p.I118I	CD8B_ENST00000393761.2_Silent_p.I118I|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000393759.2_Silent_p.I118I|CD8B_ENST00000349455.3_Silent_p.I118I|CD8B_ENST00000331469.2_Silent_p.I118I	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	118	Ig-like V-type.				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	p.I118I(2)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						GGCTCCCGACGATCATGCAGA	0.542000													18	154					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9058180	9058180	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:9058180G>A	ENST00000397910.4	-	3	29469	c.29266C>T	c.(29266-29268)Cct>Tct	p.P9756S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9758	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						GAAGTCACAGGAAGAGGAGAG	0.473000													6	67					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37026636	37026636	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:37026636G>A	ENST00000358047.3	+	1	205	c.153G>A	c.(151-153)gtG>gtA	p.V51V		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	51										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGGTATTTGTGACGGAGGGCA	0.557000													8	44					0	0	1	0	0
LRRC56	115399	broad.mit.edu	37	11	541605	541605	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:541605G>A	ENST00000270115.7	+	5	746	c.246G>A	c.(244-246)gaG>gaA	p.E82E		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	82										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACACTCGTGAGGGCAGCCTGG	0.632000													6	39					0	0	1	0	0
SH2D3C	10044	broad.mit.edu	37	9	130507002	130507002	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:130507002C>T	ENST00000314830.8	-	7	1754	c.1641G>A	c.(1639-1641)gtG>gtA	p.V547V	SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373276.3_Silent_p.V479V|SH2D3C_ENST00000373277.4_Silent_p.V390V|SH2D3C_ENST00000429553.1_Silent_p.V193V|SH2D3C_ENST00000420366.1_Silent_p.V389V|SH2D3C_ENST00000373274.3_Silent_p.V387V	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	547					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AAGTGACTTCCACGATGGGGA	0.597000													28	172					0	0	1	0	0
KIF11	3832	broad.mit.edu	37	10	94392288	94392288	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:94392288C>T	ENST00000260731.3	+	13	1630	c.1540C>T	c.(1540-1542)Cat>Tat	p.H514Y		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	514					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCTGGTCTCCATTCCAAACT	0.348000													9	89					0	0	1	0	0
OR5H14	403273	broad.mit.edu	37	3	97869000	97869000	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:97869000C>T	ENST00000437310.1	+	1	831	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCCTCGCCTTCATGTATATGG	0.418000													6	43					0	0	1	0	0
LILRP2	79166	broad.mit.edu	37	19	55220777	55220777	+	RNA	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:55220777G>A	ENST00000413439.1	+	0	808																											GATGATGTGGGACGCGTGAGC	0.607000													5	37					0	0	1	0	0
OR5T2	219464	broad.mit.edu	37	11	56000028	56000028	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:56000028C>T	ENST00000313264.4	-	1	709	c.634G>A	c.(634-636)Gaa>Aaa	p.E212K		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	212					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)					CGCCTAATTTCATTGGCTCCA	0.418000													11	240					0	0	1	0	0
SLC6A1	6529	broad.mit.edu	37	3	11068023	11068023	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:11068023C>T	ENST00000287766.4	+	10	1477	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	SLC6A1_ENST00000536032.1_Silent_p.S174S	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	352					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)	CCAAGAGGTCCATTGCTGATG	0.562000													26	96					0	0	1	0	0
KYNU	8942	broad.mit.edu	37	2	143790872	143790872	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:143790872C>T	ENST00000264170.4	+	12	1281	c.1023C>T	c.(1021-1023)tcC>tcT	p.S341S	KYNU_ENST00000409512.1_Silent_p.S341S	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	341					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	TGGTCTGTTCCTTGCATGCTA	0.383000													33	217					0	0	1	0	0
BRF1	2972	broad.mit.edu	37	14	105684023	105684023	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:105684023G>A	ENST00000546474.1	-	15	16589	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	BRF1_ENST00000549044.1_5'UTR|BRF1_ENST00000547530.1_Missense_Mutation_p.R70W|BRF1_ENST00000446501.2_Missense_Mutation_p.R306W|BRF1_ENST00000392557.4_Missense_Mutation_p.R340W|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000440513.3_Missense_Mutation_p.R451W|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000379937.2_Missense_Mutation_p.R517W|BRF1_ENST00000327359.3_Missense_Mutation_p.R429W	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	544					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CTGAGGCCCCGGAGCACGCTA	0.637000													4	46					0	0	1	0	0
MUC3A	4584	broad.mit.edu	37	7	100552960	100552960	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:100552960C>T	ENST00000319509.7	+	2	1605	c.1605C>T	c.(1603-1605)ctC>ctT	p.L535L						mucin 3A, cell surface associated											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(32)|prostate(3)	44						GCTGTCAGCTCCAGACCAGAT	0.562000													8	146					0	0	1	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018393	161018393	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:161018393C>T	ENST00000368013.3	-	12	2738	c.2418G>A	c.(2416-2418)ggG>ggA	p.G806G	ARHGAP30_ENST00000368015.1_Silent_p.G629G|ARHGAP30_ENST00000368016.3_Intron	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	806	Glu-rich.				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)			CTTCATGGTACCCCTTCTCCC	0.522000													41	193					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38647312	38647312	+	RNA	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:38647312G>A	ENST00000494540.1	+	0	183					NR_003086.1																						TGGCGTGCAGGAATATGAGCA	0.557000													4	34					0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310434	124310434	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:124310434G>A	ENST00000328064.2	-	1	620	c.548C>T	c.(547-549)cCc>cTc	p.P183L		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	183					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)		CTCAAGAAGGGGAAGGATGTC	0.507000													5	104					0	0	1	0	0
CD93	22918	broad.mit.edu	37	20	23066214	23066214	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:23066214G>A	ENST00000246006.4	-	1	763	c.616C>T	c.(616-618)Cag>Tag	p.Q206*		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	206					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)					CTGGTGGTCTGGAAGGGGGTG	0.577000													7	90					0	0	1	0	0
COL10A1	1300	broad.mit.edu	37	6	116442248	116442248	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:116442248C>T	ENST00000327673.4	-	2	1438	c.1031G>A	c.(1030-1032)gGa>gAa	p.G344E	NT5DC1_ENST00000319550.4_Intron|COL10A1_ENST00000243222.4_Missense_Mutation_p.G344E			Q03692	COAA1_HUMAN	collagen, type X, alpha 1	344	Triple-helical region.				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)		TCCTTGGGGTCCCATATTCCC	0.637000													4	60					0	0	1	0	0
OR10R2	343406	broad.mit.edu	37	1	158449913	158449913	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:158449913C>T	ENST00000368152.1	+	1	246	c.246C>T	c.(244-246)ttC>ttT	p.F82F	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F82F(1)		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)					TGTACTTCTTCCTTGGCATTC	0.413000													13	270					0	0	1	0	0
OR5M3	219482	broad.mit.edu	37	11	56237553	56237553	+	Nonsense_Mutation	SNP	G	G	A	rs151336401	byFrequency	TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:56237553G>A	ENST00000312240.2	-	1	461	c.421C>T	c.(421-423)Cga>Tga	p.R141*		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GTAATCAGTCGAATACAGACA	0.398000													13	181					0	0	1	0	0
PTPRN2	5799	broad.mit.edu	37	7	157691406	157691406	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:157691406C>T	ENST00000389413.3	-	11	1763	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	PTPRN2_ENST00000404321.2_Missense_Mutation_p.E606K|PTPRN2_ENST00000389416.4_Missense_Mutation_p.E566K|PTPRN2_ENST00000389418.4_Missense_Mutation_p.E583K|PTPRN2_ENST00000409483.1_Missense_Mutation_p.E545K	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	583						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)		CCAGAGGTTTCCTCCAGTTTG	0.512000													46	214					0	0	1	0	0
TUBB3	10381	broad.mit.edu	37	16	90002149	90002149	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:90002149C>T	ENST00000304984.5	+	3	3369	c.1074C>T	c.(1072-1074)gcC>gcT	p.A358A	TUBB3_ENST00000556922.1_Silent_p.A777A|TUBB3_ENST00000315491.7_Silent_p.A430A|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000554444.1_Silent_p.A358A			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	430					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		ACGCCACGGCCGAGGAAGAGG	0.647000													28	86					0	0	1	0	0
GRK7	131890	broad.mit.edu	37	3	141499398	141499398	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:141499398C>T	ENST00000264952.2	+	2	932	c.795C>T	c.(793-795)tgC>tgT	p.C265C		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	265	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CCCATCTCTGCCTTGTCATGA	0.537000													17	96					0	0	1	0	0
NPR3	4883	broad.mit.edu	37	5	32739102	32739102	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:32739102C>T	ENST00000265074.8	+	3	1368	c.1025C>T	c.(1024-1026)tCa>tTa	p.S342L	NPR3_ENST00000415685.2_Missense_Mutation_p.S126L|NPR3_ENST00000434067.2_Missense_Mutation_p.S126L|NPR3_ENST00000415167.2_Missense_Mutation_p.S342L	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	342					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GTGAAAAGTTCAGTTGAGAAA	0.423000													12	105					0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23888759	23888759	+	Silent	SNP	C	C	T	rs45497796		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:23888759C>T	ENST00000355349.3	-	28	3948	c.3786G>A	c.(3784-3786)aaG>aaA	p.K1262K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1262					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|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)		TCTCCTCCGCCTTGCTCCGGT	0.577000													14	146					0	0	1	0	0
NUP107	57122	broad.mit.edu	37	12	69083373	69083373	+	Missense_Mutation	SNP	G	G	A	rs139991199	byFrequency	TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:69083373G>A	ENST00000229179.4	+	3	493	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	NUP107_ENST00000378905.2_5'UTR|NUP107_ENST00000539906.1_Missense_Mutation_p.E16K	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	54					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	p.R54Q(1)	NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GTTATCCCTCGAACTCCTAGC	0.318000													5	74					0	0	1	0	0
BTD	686	broad.mit.edu	37	3	15643383	15643383	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:15643383G>A	ENST00000303498.5	+	1	135	c.26G>A	c.(25-27)gGa>gAa	p.G9E	BTD_ENST00000449107.1_Intron|BTD_ENST00000437172.1_5'UTR	NM_000060.2	NP_000051.1	P43251	BTD_HUMAN	biotinidase	9					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						ATTCAGGGCGGAAGGCGCGCT	0.672000													4	41					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179454410	179454410	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179454410C>T	ENST00000589042.1	-	304	62266	c.62042G>A	c.(62041-62043)gGa>gAa	p.G20681E	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G11741E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G11808E|TTN_ENST00000342992.6_Missense_Mutation_p.G18113E|TTN_ENST00000460472.2_Missense_Mutation_p.G11616E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G19040E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19040							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)			AAATGTCTTTCCTTTATCTGC	0.458000													35	185					0	0	1	0	0
KDM2B	84678	broad.mit.edu	37	12	122013721	122013721	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:122013721G>A	ENST00000377069.4	-	3	628	c.222C>T	c.(220-222)ccC>ccT	p.P74P	KDM2B_ENST00000377071.4_Silent_p.P105P|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000538046.2_Silent_p.P105P	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	105					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						GAAATATCAGGGGAACCCTGA	0.408000													6	103					0	0	1	0	0
USH1C	10083	broad.mit.edu	37	11	17544345	17544345	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:17544345C>T	ENST00000005226.7	-	12	1004	c.1005G>A	c.(1003-1005)caG>caA	p.Q335Q	USH1C_ENST00000527720.1_Silent_p.Q304Q|USH1C_ENST00000527020.1_Silent_p.Q316Q|USH1C_ENST00000318024.4_Silent_p.Q335Q	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	335					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GCTCCATCTCCTGCTGCTCCT	0.667000													5	54					0	0	1	0	0
GUCA1A	2978	broad.mit.edu	37	6	42141520	42141520	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:42141520G>A	ENST00000394237.1	+	3	1145	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	GUCA1A_ENST00000372958.1_Missense_Mutation_p.E57K|GUCA1A_ENST00000541991.1_Missense_Mutation_p.E57K|GUCA1A_ENST00000053469.4_Missense_Mutation_p.E57K			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	57	EF-hand 2.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCAGTACGTGGAACAGATGTT	0.587000													13	136					0	0	1	0	0
IL1F10	84639	broad.mit.edu	37	2	113832328	113832328	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:113832328C>T	ENST00000393197.2	+	3	568	c.147C>T	c.(145-147)ggC>ggT	p.G49G	IL1F10_ENST00000337569.3_Silent_p.G49G|IL1F10_ENST00000341010.2_Silent_p.G49G	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	49						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						CTAACAGAGGCTTGGCCCGCA	0.577000													11	119					0	0	1	0	0
DEFB129	140881	broad.mit.edu	37	20	207945	207945	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:207945C>T	ENST00000246105.4	+	1	47	c.16C>T	c.(16-18)Cct>Tct	p.P6S		NM_080831.3	NP_543021.1	Q9H1M3	DB129_HUMAN	defensin, beta 129	6					defense response to bacterium	extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|stomach(1)	9		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			GCTCCTTTTTCCTATCTTTGC	0.498000													15	102					0	0	1	0	0
CLSPN	63967	broad.mit.edu	37	1	36215302	36215302	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:36215302G>A	ENST00000251195.5	-	11	2235	c.2139C>T	c.(2137-2139)ctC>ctT	p.L713L	CLSPN_ENST00000318121.3_Silent_p.L713L|CLSPN_ENST00000520551.1_Intron|CLSPN_ENST00000373220.3_Silent_p.L649L			Q9HAW4	CLSPN_HUMAN	claspin	713					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA 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)				TGGGAACAGAGAGGAAGCCAA	0.358000													9	64					0	0	1	0	0
GOLGA8DP	100132979	broad.mit.edu	37	15	22709218	22709218	+	RNA	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:22709218G>A	ENST00000314246.8	-	0	1178																											CACTGCTGGGGGCTCCGGGGG	0.517000													6	89					0	0	1	0	0
ZNF250	58500	broad.mit.edu	37	8	146107151	146107151	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:146107151G>A	ENST00000292579.7	-	6	1548	c.1432C>T	c.(1432-1434)Ccc>Tcc	p.P478S	ZNF250_ENST00000417550.2_Missense_Mutation_p.P473S|ZNF250_ENST00000342660.6_Intron|ZNF250_ENST00000543949.1_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		CACTGGAAGGGCTTTTCACCT	0.547000													11	59					0	0	1	0	0
B4GALNT3	283358	broad.mit.edu	37	12	668526	668526	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:668526G>A	ENST00000266383.5	+	19	2840	c.2827G>A	c.(2827-2829)Ggc>Agc	p.G943S		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	943						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)			CAGGATTGGGGGCATGAACAC	0.607000													19	129					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179433317	179433317	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179433317C>T	ENST00000589042.1	-	326	77766	c.77542G>A	c.(77542-77544)Gat>Aat	p.D25848N	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D16908N|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D16975N|TTN_ENST00000342992.6_Missense_Mutation_p.D23280N|TTN_ENST00000460472.2_Missense_Mutation_p.D16783N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D24207N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24207	Fibronectin type-III 88.						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)			TCCAGTGAATCGGTAACATTG	0.423000													23	115					0	0	1	0	0
PRX	57716	broad.mit.edu	37	19	40901279	40901279	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:40901279G>A	ENST00000324001.7	-	7	3250	c.2980C>T	c.(2980-2982)Cca>Tca	p.P994S	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	994					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)			CTGAGCTGTGGGATGGACAGA	0.642000													5	86					0	0	1	0	0
GIMAP4	55303	broad.mit.edu	37	7	150269428	150269428	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:150269428C>T	ENST00000255945.2	+	3	445	c.270C>T	c.(268-270)ttC>ttT	p.F90F	GIMAP4_ENST00000461940.1_Silent_p.F104F|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	90							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGGCATTTTCGACACAGAGG	0.502000													26	76					0	0	1	0	0
TRHR	7201	broad.mit.edu	37	8	110131375	110131375	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:110131375C>T	ENST00000518632.1	+	3	1239	c.888C>T	c.(886-888)ttC>ttT	p.F296F	TRHR_ENST00000311762.2_Silent_p.F296F			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	296						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CCAGTCCTTTCCAAGAAAATT	0.433000													33	368					0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55085366	55085366	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:55085366C>T	ENST00000396321.2	+	1	21	c.21C>T	c.(19-21)gtC>gtT	p.V7V	LILRB1_ENST00000448689.1_Silent_p.V7V|LILRB1_ENST00000418536.2_Silent_p.V7V|LILRA2_ENST00000391738.3_Silent_p.V7V|LILRA2_ENST00000495786.1_Intron|LILRA2_ENST00000251377.3_Silent_p.V7V|LILRA2_ENST00000391737.1_Silent_p.V7V|LILRA2_ENST00000251376.3_Silent_p.V7V			Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	7					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)		TCCTCACGGTCCTGATCTGTC	0.612000										HNSCC(37;0.09)			13	141					0	0	1	0	0
SLC35B3	51000	broad.mit.edu	37	6	8417658	8417658	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:8417658G>A	ENST00000379660.4	-	8	1299	c.850C>T	c.(850-852)Cct>Tct	p.P284S		NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	284					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					GTTACTGCAGGGCCTAATCCA	0.299000													6	44					0	0	1	0	0
GSTK1	373156	broad.mit.edu	37	7	142962358	142962358	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:142962358A>T	ENST00000479303.1	+	4	615	c.557A>T	c.(556-558)gAa>gTa	p.E186V	AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000358406.5_Missense_Mutation_p.E130V|GSTK1_ENST00000443571.2_Missense_Mutation_p.E87V|GSTK1_ENST00000409500.3_Intron	NM_001143679.1	NP_001137151.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	138						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	TCCCAGAATGAAGACATCACC	0.592000													5	9					0	0	1	0	0
OR7D2	162998	broad.mit.edu	37	19	9296799	9296799	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:9296799C>T	ENST00000344248.2	+	1	521	c.342C>T	c.(340-342)ctC>ctT	p.L114L		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	114					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						ACACGCTACTCCTGACCGTGA	0.507000													26	200					0	0	1	0	0
WDR75	84128	broad.mit.edu	37	2	190327289	190327289	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:190327289C>T	ENST00000314761.4	+	9	918	c.858C>T	c.(856-858)ctC>ctT	p.L286L		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	286						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AGGAGTTTCTCCCGCGTTTAG	0.423000													15	134					0	0	1	0	0
KCNK9	51305	broad.mit.edu	37	8	140630866	140630866	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:140630866C>T	ENST00000520439.1	-	2	823	c.760G>A	c.(760-762)Gag>Aag	p.E254K	KCNK9_ENST00000303015.1_Missense_Mutation_p.E254K			Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	254						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			TCCCGCCGCTCATCCTCACTG	0.597000													9	81					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99672416	99672416	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:99672416C>T	ENST00000336292.6	+	5	3968	c.3848C>T	c.(3847-3849)tCa>tTa	p.S1283L	SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000560674.1_Intron|SYNM_ENST00000328642.7_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1284	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GCTCCACTTTCAGACAAGGTG	0.527000													21	142					0	0	1	0	0
CTNNA3	29119	broad.mit.edu	37	10	67862998	67862998	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:67862998C>T	ENST00000433211.1	-	14	2068	c.1894G>A	c.(1894-1896)Gaa>Aaa	p.E632K	CTNNA3_ENST00000373744.4_Missense_Mutation_p.E632K	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3	632					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						TCCTCCAGTTCCTCTGGGGTC	0.438000													6	57					0	0	1	0	0
PNPLA7	375775	broad.mit.edu	37	9	140435109	140435109	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:140435109G>A	ENST00000406427.1	-	8	1068	c.732C>T	c.(730-732)atC>atT	p.I244I	PNPLA7_ENST00000277531.4_Silent_p.I219I	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	219					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TGATGTCCAGGATGCTGAGCA	0.652000													4	14					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117630038	117630038	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:117630038G>A	ENST00000368508.3	-	41	6686	c.6488C>T	c.(6487-6489)cCa>cTa	p.P2163L	ROS1_ENST00000368507.3_Missense_Mutation_p.P2157L	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2163	Protein kinase.				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)		GGAATGAGCTGGATAAGGCTG	0.373000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								4	63					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152550864	152550864	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:152550864G>A	ENST00000427231.2	-	20	2071	c.1869C>T	c.(1867-1869)tcC>tcT	p.S623S	NEB_ENST00000409198.1_Silent_p.S623S|NEB_ENST00000604864.1_Silent_p.S623S|NEB_ENST00000172853.10_Silent_p.S623S|NEB_ENST00000603639.1_Silent_p.S623S|NEB_ENST00000397345.3_Silent_p.S623S	NM_001164507.1	NP_001157979.1	P20929	NEBU_HUMAN	nebulin	623					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	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)		CCACCTTCAAGGAGTGCAGCA	0.408000													15	224					0	0	1	0	0
CLEC4M	10332	broad.mit.edu	37	19	7830657	7830657	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:7830657G>A	ENST00000327325.5	+	4	466	c.348G>A	c.(346-348)ctG>ctA	p.L116L	CLEC4M_ENST00000394122.2_Silent_p.L104L|CLEC4M_ENST00000334806.5_Silent_p.L88L|CLEC4M_ENST00000248228.4_Silent_p.L116L|CLEC4M_ENST00000597522.1_Silent_p.L116L|CLEC4M_ENST00000596707.1_Silent_p.L95L|CLEC4M_ENST00000596363.1_Silent_p.L88L|CLEC4M_ENST00000357361.2_Silent_p.L116L|CLEC4M_ENST00000595496.1_Silent_p.L95L|CLEC4M_ENST00000359059.5_Silent_p.L95L	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	116	7 X approximate tandem repeats.				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						ACCAGGAGCTGACCCAGCTGA	0.557000													28	162					0	0	1	0	0
ALCAM	214	broad.mit.edu	37	3	105290735	105290735	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:105290735G>A	ENST00000306107.5	+	15	2204	c.1704G>A	c.(1702-1704)atG>atA	p.M568I	ALCAM_ENST00000389927.4_Missense_Mutation_p.M290I|ALCAM_ENST00000472644.2_Missense_Mutation_p.M555I|ALCAM_ENST00000486979.2_Missense_Mutation_p.M517I	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	568					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TCGGTAATATGGAAGAAAACA	0.338000													7	41					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168834490	168834490	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:168834490G>A	ENST00000464456.1	-	7	1806	c.606C>T	c.(604-606)aaC>aaT	p.N202N	MECOM_ENST00000494292.1_Silent_p.N390N|MECOM_ENST00000468789.1_Silent_p.N202N|MECOM_ENST00000433243.2_Silent_p.N203N|MECOM_ENST00000472280.1_Silent_p.N203N|MECOM_ENST00000392736.3_Silent_p.N202N|MECOM_ENST00000460814.1_Silent_p.N202N|MECOM_ENST00000264674.3_Silent_p.N267N	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	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						GACGGCAAAGGTTTGAAAACT	0.393000													21	114					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2976071	2976071	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:2976071G>A	ENST00000602557.1	-	43	6838	c.6283C>T	c.(6283-6285)Cag>Tag	p.Q2095*	CSMD1_ENST00000537824.1_Nonsense_Mutation_p.Q2094*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.Q2094*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.Q2095*|CSMD1_ENST00000520002.1_Nonsense_Mutation_p.Q2095*|CSMD1_ENST00000400186.3_Nonsense_Mutation_p.Q2095*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2095	Sushi 12.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		TACCCATTCTGAAATGGGGGT	0.403000													7	111					0	0	1	0	0
CHRM3	1131	broad.mit.edu	37	1	240072077	240072077	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:240072077C>G	ENST00000255380.4	+	5	2105	c.1326C>G	c.(1324-1326)gaC>gaG	p.D442E		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	442					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)	AGACTTCTGACGTCAACTCCT	0.532000													13	44					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179595381	179595381	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179595381G>A	ENST00000589042.1	-	61	18103	c.17879C>T	c.(17878-17880)tCa>tTa	p.S5960L	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S4716L|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S5643L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5643	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)			TTCACTAGCTGATATTTCTTG	0.403000													26	102					0	0	1	0	0
DNAH11	8701	broad.mit.edu	37	7	21906166	21906166	+	Nonsense_Mutation	SNP	G	G	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:21906166G>T	ENST00000328843.6	+	72	11627	c.11596G>T	c.(11596-11598)Gaa>Taa	p.E3866*	DNAH11_ENST00000409508.3_Nonsense_Mutation_p.E3859*			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3866					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						GAAGTGGGTAGAATCCGAGTG	0.428000									Kartagener syndrome				9	103					4.68919e-08	4.77066e-08	1	1	0
SPDYA	245711	broad.mit.edu	37	2	29052048	29052048	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:29052048G>A	ENST00000334056.5	+	6	604	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	SPDYA_ENST00000462832.1_3'UTR|SPDYA_ENST00000379579.4_Missense_Mutation_p.E139K	NM_182756.3	NP_877433.2	Q5MJ70	SPDYA_HUMAN	speedy/RINGO cell cycle regulator family member A	139	Speedy/Ringo box; Required for CDK- binding (By similarity).				G1/S transition of mitotic cell cycle|multicellular organismal development|positive regulation of cell proliferation|response to DNA damage stimulus	nucleus	protein kinase binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					AGATGAAGAAGAAACCAAGTA	0.368000													7	44					0	0	1	0	0
OR6C6	283365	broad.mit.edu	37	12	55688295	55688295	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:55688295G>A	ENST00000358433.2	-	1	721	c.722C>T	c.(721-723)tCc>tTc	p.S241F		NM_001005493.1	NP_001005493.1	A6NF89	OR6C6_HUMAN	olfactory receptor, family 6, subfamily C, member 6	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AATCATGTGGGAAGTACAGGT	0.378000													11	109					0	0	1	0	0
EMP2	2013	broad.mit.edu	37	16	10626871	10626871	+	Missense_Mutation	SNP	G	G	A	rs141680568	byFrequency	TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:10626871G>A	ENST00000359543.3	-	5	604	c.395C>T	c.(394-396)cCc>cTc	p.P132L	EMP2_ENST00000536829.1_Missense_Mutation_p.P132L	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	132					cell proliferation	integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						TCTGGTCACGGGATAGAATTT	0.512000													9	109					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72657979	72657979	+	RNA	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:72657979G>A	ENST00000425256.1	-	0	1932					NR_002164.1																						ccaaggattcgaaaaatctct	0.507000													15	139					0	0	1	0	0
CRB1	23418	broad.mit.edu	37	1	197313597	197313597	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:197313597G>A	ENST00000367400.3	+	3	974	c.839G>A	c.(838-840)gGa>gAa	p.G280E	CRB1_ENST00000535699.1_Missense_Mutation_p.G211E|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000543483.1_5'UTR|CRB1_ENST00000538660.1_Missense_Mutation_p.G280E	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	280	EGF-like 7; calcium-binding (Potential).				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						TGTGTGGATGGAGAAAACAGG	0.488000													8	148					0	0	1	0	0
STXBP5L	9515	broad.mit.edu	37	3	120924788	120924788	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:120924788G>A	ENST00000273666.6	+	10	1167	c.896G>A	c.(895-897)gGa>gAa	p.G299E	STXBP5L_ENST00000497029.1_Missense_Mutation_p.G299E|STXBP5L_ENST00000472879.1_Missense_Mutation_p.G299E|STXBP5L_ENST00000492541.1_Missense_Mutation_p.G299E|STXBP5L_ENST00000471454.1_Missense_Mutation_p.G299E	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	299					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)		CAAAGAGAAGGAAGAAAATCT	0.269000													3	28					0	0	1	0	0
TMEM177	80775	broad.mit.edu	37	2	120438440	120438440	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:120438440C>T	ENST00000424086.1	+	2	484	c.11C>T	c.(10-12)cCc>cTc	p.P4L	TMEM177_ENST00000401466.1_Missense_Mutation_p.P4L|TMEM177_ENST00000272521.6_Missense_Mutation_p.P4L|TMEM177_ENST00000409951.1_Missense_Mutation_p.P4L|TMEM177_ENST00000496203.1_Intron	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	4						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					ATGGCAGGTCCCCTGTGGCGG	0.567000													6	51					0	0	1	0	0
SLC13A4	26266	broad.mit.edu	37	7	135370406	135370406	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:135370406C>T	ENST00000354042.4	-	14	2158	c.1469G>A	c.(1468-1470)gGg>gAg	p.G490E	SLC13A4_ENST00000491630.1_5'UTR|C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	490						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						CATCTGGTTCCCAATCCATGT	0.522000													21	214					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92346025	92346025	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr13:92346025G>A	ENST00000377067.3	+	3	1282	c.910G>A	c.(910-912)Gat>Aat	p.D304N		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	304						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AGAACTCTCGGATGCAATGCA	0.483000													6	111					0	0	1	0	0
NUTM1	256646	broad.mit.edu	37	15	34642950	34642950	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:34642950G>A	ENST00000537011.1	+	4	1237	c.855G>A	c.(853-855)ctG>ctA	p.L285L	NUTM1_ENST00000438749.3_Silent_p.L275L|NUTM1_ENST00000333756.4_Silent_p.L257L					NUT midline carcinoma, family member 1																		CTATGACCCTGGAGGAGGGAC	0.542000													9	83					0	0	1	0	0
SLC29A1	2030	broad.mit.edu	37	6	44198553	44198553	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:44198553C>T	ENST00000393841.1	+	9	1184	c.693C>T	c.(691-693)ttC>ttT	p.F231F	SLC29A1_ENST00000371713.1_Silent_p.F231F|SLC29A1_ENST00000371755.3_Silent_p.F231F|SLC29A1_ENST00000371708.1_Silent_p.F231F|SLC29A1_ENST00000371731.1_Silent_p.F231F|SLC29A1_ENST00000371740.5_Silent_p.F231F|SLC29A1_ENST00000393844.1_Silent_p.F231F|SLC29A1_ENST00000371724.1_Silent_p.F231F|SLC29A1_ENST00000313248.7_Silent_p.F310F|SLC29A1_ENST00000427851.2_Silent_p.F231F|SLC29A1_ENST00000472176.1_3'UTR	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	231					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	GATAGGAATTCTACCGCTACT	0.547000													10	84					0	0	1	0	0
ACPL2	92370	broad.mit.edu	37	3	141011447	141011447	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:141011447C>T	ENST00000508812.1	+	5	2723	c.816C>T	c.(814-816)atC>atT	p.I272I	ACPL2_ENST00000502783.1_Silent_p.I243I|ACPL2_ENST00000286353.4_Silent_p.I281I|ACPL2_ENST00000393007.1_Silent_p.I265I|ACPL2_ENST00000504264.1_Silent_p.I264I|ACPL2_ENST00000393010.2_Silent_p.I281I|RP11-438D8.2_ENST00000507698.1_RNA			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	281						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						TGGCCAAGATCGTGGATGTCC	0.527000													7	85					0	0	1	0	0
SMR3A	26952	broad.mit.edu	37	4	71232595	71232595	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:71232595C>T	ENST00000226460.4	+	3	385	c.289C>T	c.(289-291)Cct>Tct	p.P97S		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	97	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TCTTCCTCCTCCTTATGGCCC	0.547000													9	113					0	0	1	0	0
CCDC158	339965	broad.mit.edu	37	4	77255316	77255316	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:77255316G>A	ENST00000388914.3	-	18	2821	c.2669C>T	c.(2668-2670)tCt>tTt	p.S890F		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	890										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGCTTTTGTAGAGTGCTGAGT	0.378000													5	66					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179425664	179425664	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179425664C>T	ENST00000589042.1	-	326	85419	c.85195G>A	c.(85195-85197)Gaa>Aaa	p.E28399K	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E19459K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E19526K|TTN_ENST00000342992.6_Missense_Mutation_p.E25831K|TTN_ENST00000460472.2_Missense_Mutation_p.E19334K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E26758K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26758	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)			GCTCTTTCTTCAATTTCTATA	0.403000													8	109					0	0	1	0	0
ADAM7	8756	broad.mit.edu	37	8	24324357	24324357	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:24324357G>A	ENST00000175238.6	+	6	518	c.435G>A	c.(433-435)gtG>gtA	p.V145V	ADAM7_ENST00000380789.1_Silent_p.V145V|ADAM7_ENST00000441335.2_Silent_p.V145V|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	145					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTGAACCAGTGAAATACTCAG	0.368000													6	93					0	0	1	0	0
OPN3	23596	broad.mit.edu	37	1	241761112	241761112	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:241761112G>A	ENST00000366554.2	-	3	987	c.881C>T	c.(880-882)tCg>tTg	p.S294L	OPN3_ENST00000331838.5_Missense_Mutation_p.S215L|OPN3_ENST00000469376.1_5'UTR	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3	294					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|visual perception	integral to plasma membrane	G-protein coupled photoreceptor activity			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			AAAGAGGTACGAAACAATAGA	0.398000													7	128					0	0	1	0	0
CUX1	1523	broad.mit.edu	37	7	101870865	101870865	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:101870865C>T	ENST00000360264.3	+	21	3402	c.3382C>T	c.(3382-3384)Caa>Taa	p.Q1128*	CUX1_ENST00000393824.3_Intron|CUX1_ENST00000556210.1_Nonsense_Mutation_p.Q959*|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000549414.2_Nonsense_Mutation_p.Q1095*|CUX1_ENST00000292535.7_Nonsense_Mutation_p.Q1117*|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000546411.2_Nonsense_Mutation_p.Q1015*|CUX1_ENST00000550008.2_Nonsense_Mutation_p.Q1061*	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1117					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						CCTCAGCATCCAAGAATTAGT	0.617000													6	93					0	0	1	0	0
DENND2C	163259	broad.mit.edu	37	1	115147572	115147572	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:115147572C>T	ENST00000393274.1	-	11	2263	c.1638G>A	c.(1636-1638)aaG>aaA	p.K546K	DENND2C_ENST00000393277.1_Silent_p.K546K|DENND2C_ENST00000481894.1_5'UTR|DENND2C_ENST00000393276.3_Silent_p.K489K	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	546	UDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)		GCATCCAGTCCTTTGAATCAG	0.348000													6	47					0	0	1	0	0
KIAA1217	56243	broad.mit.edu	37	10	24813448	24813448	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:24813448C>T	ENST00000376451.2	+	8	1962	c.1702C>T	c.(1702-1704)Cgc>Tgc	p.R568C	KIAA1217_ENST00000307544.6_Missense_Mutation_p.R568C|KIAA1217_ENST00000396446.1_Missense_Mutation_p.R568C|KIAA1217_ENST00000396445.1_Missense_Mutation_p.R568C|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R850C|KIAA1217_ENST00000376462.1_Missense_Mutation_p.R805C|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R850C|KIAA1217_ENST00000376454.3_Missense_Mutation_p.R885C|KIAA1217_ENST00000430453.2_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	885					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CATGATGGTTCGCCACGCGCA	0.662000													9	75					0	0	1	0	0
ITIH4	3700	broad.mit.edu	37	3	52858864	52858864	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:52858864G>A	ENST00000266041.4	-	7	966	c.870C>T	c.(868-870)atC>atT	p.I290I	ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000434759.3_Silent_p.I202I|ITIH4_ENST00000406595.1_Silent_p.I290I|ITIH4_ENST00000485816.1_Silent_p.I290I|ITIH4_ENST00000346281.5_Silent_p.I290I	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	290	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTACCTGCTGGATTTTCCTGC	0.572000													7	86					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110487357	110487357	+	Silent	SNP	T	T	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:110487357T>C	ENST00000378402.5	+	51	8720	c.8616T>C	c.(8614-8616)atT>atC	p.I2872I		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2872					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)			GCACAAGCATTATTCCATTTC	0.348000										HNSCC(38;0.096)			7	39					0	0	1	0	0
FAM129A	116496	broad.mit.edu	37	1	184765085	184765085	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:184765085G>A	ENST00000367511.3	-	14	2006	c.1813C>T	c.(1813-1815)Ctg>Ttg	p.L605L	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	605					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						ACTCCTGGCAGAATGGCAGAA	0.547000													32	102					0	0	1	0	0
ZNF578	147660	broad.mit.edu	37	19	53013965	53013965	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:53013965C>T	ENST00000421239.2	+	6	575	c.331C>T	c.(331-333)Cat>Tat	p.H111Y		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AAAAGATATTCATGACTTTGA	0.398000													12	186					0	0	1	0	0
TPO	7173	broad.mit.edu	37	2	1507825	1507825	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:1507825T>A	ENST00000345913.4	+	14	2583	c.2492T>A	c.(2491-2493)tTa>tAa	p.L831*	TPO_ENST00000497517.2_3'UTR|TPO_ENST00000349624.3_Nonsense_Mutation_p.L658*|TPO_ENST00000346956.3_Intron|TPO_ENST00000382198.1_Nonsense_Mutation_p.L658*|TPO_ENST00000337415.3_Nonsense_Mutation_p.L831*|TPO_ENST00000329066.4_Nonsense_Mutation_p.L831*|TPO_ENST00000382201.3_Nonsense_Mutation_p.L774*	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	831	EGF-like; calcium-binding (Potential).				cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCCTACGAGTTAGGAGACGAT	0.557000													5	80					0	0	1	0	0
SYNPO2L	79933	broad.mit.edu	37	10	75407604	75407604	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:75407604C>T	ENST00000394810.2	-	4	1955	c.1806G>A	c.(1804-1806)ggG>ggA	p.G602G	SYNPO2L_ENST00000372872.4_Intron|SYNPO2L_ENST00000372873.4_Silent_p.G378G	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	602	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCTCAGGAGCCCCTGGGCCTG	0.706000													6	59					0	0	1	0	0
C7	730	broad.mit.edu	37	5	40947778	40947778	+	Silent	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:40947778A>G	ENST00000313164.9	+	8	1172	c.813A>G	c.(811-813)caA>caG	p.Q271Q		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	271	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AATTTTTACAACTTGCTGAGC	0.443000													6	38					0	0	1	0	0
PDP1	54704	broad.mit.edu	37	8	94934315	94934315	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:94934315C>T	ENST00000396200.3	+	3	379	c.103C>T	c.(103-105)Cct>Tct	p.P35S	PDP1_ENST00000517764.1_Missense_Mutation_p.P10S|PDP1_ENST00000520728.1_Missense_Mutation_p.P10S|PDP1_ENST00000297598.4_Missense_Mutation_p.P10S	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	10					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	p.P10S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						ACTGTTTTTTCCTCTCATCCG	0.473000													20	106					0	0	1	0	0
MC5R	4161	broad.mit.edu	37	18	13826326	13826326	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:13826326C>T	ENST00000324750.3	+	1	784	c.562C>T	c.(562-564)Ctg>Ttg	p.L188L		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	188					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CTACGTCATCCTGTGCCTCAT	0.587000													27	637					0	0	1	0	0
ENTPD1	953	broad.mit.edu	37	10	97605144	97605144	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:97605144G>A	ENST00000371203.5	+	5	777	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	ENTPD1_ENST00000453258.2_Missense_Mutation_p.E209K|ENTPD1_ENST00000371207.3_Missense_Mutation_p.E214K|ENTPD1_ENST00000539125.1_Missense_Mutation_p.E64K|ENTPD1-AS1_ENST00000416301.1_RNA|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371205.4_Missense_Mutation_p.E202K|ENTPD1_ENST00000543964.1_Missense_Mutation_p.E94K	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	202					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		AGTCCCATATGAAACCAATAA	0.443000													10	170					0	0	1	0	0
KIF1A	547	broad.mit.edu	37	2	241676513	241676513	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:241676513G>A	ENST00000498729.2	-	38	4220	c.3974C>T	c.(3973-3975)tCt>tTt	p.S1325F	KIF1A_ENST00000320389.7_Missense_Mutation_p.S1224F	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1224					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GTATCCGGAAGAGAGGATGTT	0.607000													12	129					0	0	1	0	0
SMG1P7	100506060	broad.mit.edu	37	16	70253871	70253871	+	RNA	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:70253871A>G	ENST00000581050.1	-	0	1619					NR_033959.1																						GTAAAGCTTCACCGAAGAGTG	0.388000													3	20					0	0	1	0	0
OCEL1	79629	broad.mit.edu	37	19	17339705	17339705	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:17339705G>A	ENST00000215061.4	+	6	810	c.766G>A	c.(766-768)Gga>Aga	p.G256R	OCEL1_ENST00000601529.1_3'UTR|OCEL1_ENST00000597836.1_Missense_Mutation_p.G200R	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	256										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						CGATGACCAAGGAGACAGCGA	0.542000													13	78					0	0	1	0	0
CFI	3426	broad.mit.edu	37	4	110687908	110687908	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:110687908C>T	ENST00000394634.2	-	2	337	c.130G>A	c.(130-132)Gat>Aat	p.D44N	CFI_ENST00000510800.1_Missense_Mutation_p.D44N|CFI_ENST00000394635.3_Missense_Mutation_p.D44N|CFI_ENST00000512148.1_Missense_Mutation_p.D44N	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	44					complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		AAGACTTTATCGCAGGAGAGG	0.423000													8	73					0	0	1	0	0
PCDHA9	9752	broad.mit.edu	37	5	140389226	140389226	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140389226G>A	ENST00000532602.1	+	4	3590	c.2557G>A	c.(2557-2559)Gaa>Aaa	p.E853K	PCDHA5_ENST00000529619.1_Missense_Mutation_p.E839K|PCDHA6_ENST00000529310.1_Missense_Mutation_p.E853K|PCDHA8_ENST00000531613.1_Missense_Mutation_p.E853K|PCDHA1_ENST00000504120.2_Missense_Mutation_p.E853K|PCDHA1_ENST00000394633.3_Missense_Mutation_p.E589K|PCDHA4_ENST00000530339.1_Missense_Mutation_p.E850K|PCDHA10_ENST00000307360.5_Missense_Mutation_p.E851K|PCDHAC2_ENST00000289269.5_Missense_Mutation_p.E910K|PCDHA5_ENST00000529859.1_Missense_Mutation_p.E839K|PCDHA3_ENST00000522353.2_Missense_Mutation_p.E853K|PCDHA4_ENST00000512229.2_Missense_Mutation_p.E850K|PCDHA13_ENST00000289272.2_Missense_Mutation_p.E853K|PCDHA11_ENST00000398640.2_Missense_Mutation_p.E852K|PCDHA7_ENST00000525929.1_Missense_Mutation_p.E840K|PCDHA12_ENST00000398631.2_Missense_Mutation_p.E844K|PCDHA2_ENST00000526136.1_Missense_Mutation_p.E851K|PCDHA10_ENST00000506939.2_Missense_Mutation_p.E588K|PCDHA13_ENST00000409494.1_Missense_Mutation_p.E853K|PCDHA6_ENST00000527624.1_Missense_Mutation_p.E589K|PCDHAC1_ENST00000253807.2_Missense_Mutation_p.E866K	NM_031857.1	NP_114063.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGCAGGAGAAGTGTCCCC	0.512000													9	104					0	0	1	0	0
ITGA4	3676	broad.mit.edu	37	2	182359479	182359479	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:182359479T>G	ENST00000397033.2	+	12	1709	c.1279T>G	c.(1279-1281)Tta>Gta	p.L427V		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	427					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CAGCAAATCGTTAAGTATGTT	0.313000													5	88					0	0	1	0	0
POM121L9P	29774	broad.mit.edu	37	22	24659813	24659813	+	RNA	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:24659813C>T	ENST00000414583.2	+	0	3338					NR_003714.1																						ATCTGCGCACCCGGAGGTGGG	0.607000													3	10					0	0	1	0	0
MGAT5B	146664	broad.mit.edu	37	17	74901259	74901259	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:74901259C>T	ENST00000569840.2	+	7	1273	c.699C>T	c.(697-699)ttC>ttT	p.F233F	MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000301618.4_Silent_p.F233F|MGAT5B_ENST00000428789.2_Silent_p.F244F	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	233						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGCAGTTTTCCGAAGCAACC	0.637000													4	44					0	0	1	0	0
VTA1	51534	broad.mit.edu	37	6	142490804	142490804	+	Silent	SNP	C	C	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:142490804C>A	ENST00000367630.4	+	3	383	c.325C>A	c.(325-327)Cga>Aga	p.R109R	VTA1_ENST00000367621.1_Silent_p.R51R|VTA1_ENST00000452973.2_Silent_p.R51R	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	109	Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TCGTGCTGGACGATTTCACAA	0.303000													5	34					0.184627	0.184627	1	1	0
EDARADD	128178	broad.mit.edu	37	1	236577593	236577593	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:236577593C>T	ENST00000359362.5	+	3	338	c.124C>T	c.(124-126)Cct>Tct	p.P42S	EDARADD_ENST00000334232.4_Missense_Mutation_p.P52S	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	52					cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TACGGAACTCCCTAAAGGTAT	0.299000													11	75					0	0	1	0	0
KCNJ4	3761	broad.mit.edu	37	22	38823733	38823733	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:38823733G>A	ENST00000303592.3	-	2	663	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	135					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					ACCCATAGCCGATGGTCGTCT	0.637000													14	89					0	0	1	0	0
NLRP11	204801	broad.mit.edu	37	19	56321673	56321673	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:56321673C>T	ENST00000443188.1	-	5	1013	c.303G>A	c.(301-303)agG>agA	p.R101R	NLRP11_ENST00000360133.3_Silent_p.R101R|NLRP11_ENST00000589093.1_Silent_p.R101R|NLRP11_ENST00000592953.1_Silent_p.R2R|NLRP11_ENST00000589824.2_Silent_p.R101R	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	101							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGAATTTTCTCCTCATGACAG	0.363000													4	52					0	0	1	0	0
DLC1	10395	broad.mit.edu	37	8	13357349	13357349	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:13357349T>C	ENST00000276297.4	-	2	641	c.232A>G	c.(232-234)Atg>Gtg	p.M78V	DLC1_ENST00000316609.5_Missense_Mutation_p.M78V|DLC1_ENST00000511869.1_Missense_Mutation_p.M78V	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	78					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGATGACCCATTGGCCTCCCA	0.453000													15	311					0	0	1	0	0
TUBGCP3	10426	broad.mit.edu	37	13	113176671	113176671	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr13:113176671G>A	ENST00000261965.3	-	14	1894	c.1708C>T	c.(1708-1710)Caa>Taa	p.Q570*	TUBGCP3_ENST00000462580.1_5'UTR|TUBGCP3_ENST00000375669.3_Nonsense_Mutation_p.Q570*	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	570					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					AAGTCTCCTTGACCAAGAAGC	0.368000													5	73					0	0	1	0	0
OR5AC2	81050	broad.mit.edu	37	3	97806367	97806367	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:97806367G>A	ENST00000358642.2	+	1	351	c.351G>A	c.(349-351)ctG>ctA	p.L117L		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	117					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						GCTTCCTCCTGGTGATGATGG	0.428000													41	252					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	144999675	144999675	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:144999675C>T	ENST00000322810.4	-	31	5002	c.4833G>A	c.(4831-4833)gaG>gaA	p.E1611E	PLEC_ENST00000356346.3_Silent_p.E1460E|PLEC_ENST00000527096.1_Silent_p.E1497E|PLEC_ENST00000345136.3_Silent_p.E1474E|PLEC_ENST00000357649.2_Silent_p.E1478E|PLEC_ENST00000354589.3_Silent_p.E1474E|PLEC_ENST00000398774.2_Silent_p.E1442E|PLEC_ENST00000436759.2_Silent_p.E1501E|PLEC_ENST00000354958.2_Silent_p.E1452E	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1611	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			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						GTGCCTGCAGCTCCCCCTCAG	0.721000													3	15					0	0	1	0	0
AHNAK2	113146	broad.mit.edu	37	14	105416176	105416176	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:105416176A>T	ENST00000333244.5	-	7	5731	c.5612T>A	c.(5611-5613)cTc>cAc	p.L1871H	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1871						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CGGAATGCAGAGGTCCGTGGT	0.662000													45	335					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43307622	43307622	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:43307622G>A	ENST00000361428.2	-	10	4191	c.4114C>T	c.(4114-4116)Cct>Tct	p.P1372S	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1372					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)			GTGTTAAGAGGAGCTGGCTTG	0.478000													5	85					0	0	1	0	0
MRVI1	10335	broad.mit.edu	37	11	10603527	10603527	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:10603527C>G	ENST00000547195.1	-	18	2474	c.1974G>C	c.(1972-1974)aaG>aaC	p.K658N	MRVI1_ENST00000534266.2_Missense_Mutation_p.K434N|MRVI1_ENST00000558540.1_Missense_Mutation_p.K434N|MRVI1_ENST00000424001.1_Missense_Mutation_p.K434N|MRVI1_ENST00000436272.1_Missense_Mutation_p.K722N|MRVI1_ENST00000423302.2_Missense_Mutation_p.K749N|MRVI1_ENST00000545852.1_Missense_Mutation_p.K434N|MRVI1_ENST00000531107.1_Missense_Mutation_p.K741N|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000552103.1_Missense_Mutation_p.K658N|MRVI1_ENST00000527509.2_Missense_Mutation_p.K658N|MRVI1_ENST00000541483.1_Missense_Mutation_p.K543N|MRVI1-AS1_ENST00000529979.1_RNA|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000421747.1_Missense_Mutation_p.K740N	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	722					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CCCCATTTGTCTTTCCACTAG	0.507000													6	76					0	0	1	0	0
PILRB	29990	broad.mit.edu	37	7	99956644	99956644	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:99956644G>A	ENST00000444874.1	+	15	2087	c.187G>A	c.(187-189)Gag>Aag	p.E63K	PILRB_ENST00000452089.1_Silent_p.R132R|PILRB_ENST00000444073.1_Silent_p.R132R|PILRB_ENST00000310771.4_Silent_p.R132R|PILRB_ENST00000448382.1_Missense_Mutation_p.E185K			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	0	Ig-like V-type.		I -> T (in dbSNP:rs11771799).	IVPN -> TAPD (in Ref. 2; CAC19193).	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)					TGGACACCCGGAGATCAGGGA	0.597000													10	127					0	0	1	0	0
LPPR1	54886	broad.mit.edu	37	9	104079689	104079689	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:104079689C>T	ENST00000374874.3	+	7	1295	c.856C>T	c.(856-858)Cct>Tct	p.P286S	LPPR1_ENST00000395056.2_Missense_Mutation_p.P286S	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		286						integral to membrane	catalytic activity										GCAAGGATCTCCTTCCAAACC	0.498000													27	123					0	0	1	0	0
MVP	9961	broad.mit.edu	37	16	29845323	29845323	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:29845323C>T	ENST00000357402.5	+	5	651	c.513C>T	c.(511-513)aaC>aaT	p.N171N	MVP_ENST00000452209.2_Intron|MVP_ENST00000395353.1_Silent_p.N171N	NM_005115.4|NM_017458.3	NP_005106.2|NP_059447.2	Q14764	MVP_HUMAN	major vault protein	171					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						TCAGGCAGAACCAGGCTCTGC	0.627000													27	72					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142459745	142459745	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:142459745C>T	ENST00000486171.1	+	4	380	c.363C>T	c.(361-363)gaC>gaT	p.D121D	PRSS1_ENST00000311737.7_Silent_p.D107D			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	107	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			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)			TGAACAATGACATCATGTTAA	0.547000													38	206					0	0	1	0	0
ISM2	145501	broad.mit.edu	37	14	77944926	77944926	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:77944926G>A	ENST00000393684.3	-	6	1233	c.842C>T	c.(841-843)tCc>tTc	p.S281F	ISM2_ENST00000342219.4_Missense_Mutation_p.S369F|ISM2_ENST00000412904.1_Missense_Mutation_p.S288F|ISM2_ENST00000493585.1_Missense_Mutation_p.P254S|ISM2_ENST00000429906.1_Missense_Mutation_p.S288F			Q6H9L7	ISM2_HUMAN	isthmin 2	369						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						ACCAGGACAGGAGGGCAGGTC	0.637000													6	44					0	0	1	0	0
SLC6A12	6539	broad.mit.edu	37	12	301750	301750	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:301750G>C	ENST00000428720.1	-	15	2338	c.1595C>G	c.(1594-1596)cCg>cGg	p.P532R	SLC6A12_ENST00000397296.2_Missense_Mutation_p.P532R|SLC6A12_ENST00000536824.1_Missense_Mutation_p.P532R|SLC6A12_ENST00000424061.2_Missense_Mutation_p.P532R|SLC6A12_ENST00000359674.4_Missense_Mutation_p.P532R	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	532					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TCCCCAGGGCGGGTACACATA	0.562000													9	116					0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38941495	38941495	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:38941495G>A	ENST00000450244.1	-	13	2110	c.1912C>T	c.(1912-1914)Cgc>Tgc	p.R638C	SCN11A_ENST00000456224.3_Missense_Mutation_p.R638C|SCN11A_ENST00000444237.2_Missense_Mutation_p.R638C|SCN11A_ENST00000302328.3_Missense_Mutation_p.R638C			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	638					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)	CAGCCTCGGCGAAAGTAGTGG	0.423000													10	63					0	0	1	0	0
MECOM	2122	broad.mit.edu	37	3	168833196	168833196	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:168833196G>A	ENST00000464456.1	-	7	3100	c.1900C>T	c.(1900-1902)Cct>Tct	p.P634S	MECOM_ENST00000494292.1_Missense_Mutation_p.P822S|MECOM_ENST00000468789.1_Missense_Mutation_p.P634S|MECOM_ENST00000433243.2_Missense_Mutation_p.P635S|MECOM_ENST00000472280.1_Missense_Mutation_p.P635S|MECOM_ENST00000392736.3_Missense_Mutation_p.P634S|MECOM_ENST00000460814.1_Missense_Mutation_p.P634S|MECOM_ENST00000264674.3_Missense_Mutation_p.P699S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity	p.P634S(1)		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						ATAAAGAAAGGAGTGGGTCTT	0.448000													8	67					0	0	1	0	0
RP11-252A24.2	0	broad.mit.edu	37	16	74387680	74387680	+	RNA	SNP	C	C	T	rs2549273	by1000genomes	TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:74387680C>T	ENST00000429810.2	-	0	563																											CTTACCTGTTCGGATCCCTGT	0.463000													4	54					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56539030	56539030	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:56539030C>T	ENST00000390649.3	+	7	1431	c.1431C>T	c.(1429-1431)atC>atT	p.I477I		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	477	NACHT.					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)		GCTCTCTCATCTGCGTGGCCC	0.617000													9	41					0	0	1	0	0
GPAM	57678	broad.mit.edu	37	10	113928205	113928205	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:113928205G>A	ENST00000348367.4	-	11	1169	c.972C>T	c.(970-972)acC>acT	p.T324T	GPAM_ENST00000423155.1_Silent_p.T324T|GPAM_ENST00000369425.1_Silent_p.T324T			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	324					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GAGCACAAGAGGTTTTTCCAC	0.423000													8	108					0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040781	107040781	+	Silent	SNP	T	T	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:107040781T>G	ENST00000409886.3	-	20	3729	c.3642A>C	c.(3640-3642)acA>acC	p.T1214T	RGPD3_ENST00000304514.7_Silent_p.T1214T	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1214					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CAGCGACTTTTGTTTGATCAT	0.423000													78	369					0	0	1	0	0
TTC18	118491	broad.mit.edu	37	10	75101169	75101169	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:75101169G>A	ENST00000401621.2	-	7	900	c.780C>T	c.(778-780)ctC>ctT	p.L260L	TTC18_ENST00000394865.1_Silent_p.L260L|TTC18_ENST00000355577.3_5'UTR|TTC18_ENST00000340329.3_Intron|TTC18_ENST00000310715.3_Silent_p.L260L|TTC18_ENST00000493787.1_5'UTR			Q5T0N1	TTC18_HUMAN	tetratricopeptide repeat domain 18	260							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					CAGGATGGTTGAGTTCTCCTT	0.383000													6	99					0	0	1	0	0
DPYD	1806	broad.mit.edu	37	1	98164976	98164976	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:98164976G>A	ENST00000370192.3	-	6	711	c.611C>T	c.(610-612)tCc>tTc	p.S204F	DPYD_ENST00000423006.2_3'UTR|DPYD_ENST00000474241.1_5'UTR	NM_000110.3	NP_000101.2	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	204					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			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)	AGCCAAAAAGGAAGCACAACT	0.393000													26	170					0	0	1	0	0
TRIM74	378108	broad.mit.edu	37	7	72436459	72436459	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:72436459G>A	ENST00000285805.3	-	2	429	c.230C>T	c.(229-231)gCc>gTc	p.A77V	TRIM74_ENST00000395244.1_Missense_Mutation_p.A77V	NM_198853.1	NP_942150.1	Q86UV6	TRI74_HUMAN	tripartite motif containing 74	77						intracellular	zinc ion binding			prostate(1)	1						GAGCCTCAGGGCTTCGATCAC	0.657000													18	147					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31620595	31620595	+	Splice_Site	SNP	C	C	T	rs149508779		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:31620595C>T	ENST00000379416.3	-	6	482	c.433_splice	c.e6-1	p.G145_splice		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	145					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.G145E(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GCACAGATTTCCTGTGGGCCA	0.542000													30	121					0	0	1	0	0
AGPAT3	56894	broad.mit.edu	37	21	45389065	45389065	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr21:45389065C>T	ENST00000398063.2	+	4	907	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	AGPAT3_ENST00000546158.1_Silent_p.L139L|AGPAT3_ENST00000291572.8_Silent_p.L139L|AGPAT3_ENST00000398061.1_Silent_p.L139L|AGPAT3_ENST00000327505.2_Silent_p.L139L|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Silent_p.L139L	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	139					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		GTGGTACTTTCTGGAGATTGT	0.612000													6	87					0	0	1	0	0
SEMA3F	6405	broad.mit.edu	37	3	50222238	50222238	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:50222238C>T	ENST00000002829.3	+	13	1931	c.1447C>T	c.(1447-1449)Ctg>Ttg	p.L483L	SEMA3F_ENST00000413852.1_Silent_p.L384L|SEMA3F_ENST00000434342.1_Silent_p.L452L	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	483	Sema.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		GGTGCTTTTCCTGGGCACAGG	0.682000													4	27					0	0	1	0	0
NTF3	4908	broad.mit.edu	37	12	5604142	5604142	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:5604142C>T	ENST00000423158.3	+	2	1013	c.801C>T	c.(799-801)atC>atT	p.I267I	NTF3_ENST00000331010.6_Silent_p.I254I|NTF3_ENST00000535299.1_Intron	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	254					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CGAGAAAAATCGGAAGAACAT	0.368000													9	31					0	0	1	0	0
CORO1A	11151	broad.mit.edu	37	16	30199816	30199816	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:30199816G>A	ENST00000219150.5	+	10	1505	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K	CORO1A_ENST00000565497.1_Intron|CORO1A_ENST00000570045.1_Silent_p.K400K	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	400					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						TACCCCCAAAGAGCCGGGAGC	0.706000													14	51					0	0	1	0	0
BNC1	646	broad.mit.edu	37	15	83932835	83932835	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:83932835C>T	ENST00000345382.2	-	4	1253	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	BNC1_ENST00000569704.1_Missense_Mutation_p.E383K|RP11-382A20.4_ENST00000565495.1_RNA	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	390					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TTACACCCTTCGATGGTGCAC	0.512000													29	144					0	0	1	0	0
TAF1B	9014	broad.mit.edu	37	2	10008442	10008442	+	Missense_Mutation	SNP	G	G	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:10008442G>C	ENST00000263663.5	+	6	625	c.437G>C	c.(436-438)aGt>aCt	p.S146T	TAF1B_ENST00000402170.1_3'UTR|TAF1B_ENST00000396242.3_5'UTR	NM_005680.2	NP_005671.2	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	146					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GACTGGGCTAGTGAGCCTGAG	0.398000													8	51					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95734737	95734737	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:95734737G>A	ENST00000311106.3	-	11	1671	c.1434C>T	c.(1432-1434)gcC>gcT	p.A478A	PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Silent_p.A431A|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	478					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)	TAGCTTTCAGGGCTCTAAATA	0.358000													4	36					0	0	1	0	0
ASB16	92591	broad.mit.edu	37	17	42254167	42254167	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:42254167G>A	ENST00000293414.1	+	3	715	c.631G>A	c.(631-633)Gag>Aag	p.E211K	ASB16-AS1_ENST00000588785.1_RNA|ASB16-AS1_ENST00000585457.1_RNA|ASB16-AS1_ENST00000591166.1_RNA	NM_080863.4	NP_543139.4	Q96NS5	ASB16_HUMAN	ankyrin repeat and SOCS box containing 16	211					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CGAGAGCCAGGAGACGCCCCT	0.667000													5	80					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9060272	9060272	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:9060272G>A	ENST00000397910.4	-	3	27377	c.27174C>T	c.(27172-27174)tcC>tcT	p.S9058S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9060	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						TCACTTCAGTGGATATGTCTT	0.502000													21	129					0	0	1	0	0
PAM	5066	broad.mit.edu	37	5	102361024	102361024	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:102361024C>T	ENST00000438793.3	+	23	3145	c.2675C>T	c.(2674-2676)tCa>tTa	p.S892L	PAM_ENST00000304400.7_Missense_Mutation_p.S892L|PAM_ENST00000346918.2_Intron|PAM_ENST00000274392.9_Missense_Mutation_p.S794L|PAM_ENST00000455264.2_Intron|PAM_ENST00000379787.4_Missense_Mutation_p.S272L|PAM_ENST00000348126.2_Missense_Mutation_p.S785L	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	892					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			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)	TGGAAAAAATCAAGGGCCTTT	0.473000													12	85					0	0	1	0	0
LRIG2	9860	broad.mit.edu	37	1	113657299	113657299	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:113657299C>T	ENST00000361127.4	+	15	2529	c.2331C>T	c.(2329-2331)ggC>ggT	p.G777G	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	777	Ig-like C2-type 3.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CAGAACGTGGCCACATTTACC	0.468000													13	157					0	0	1	0	0
SLC27A2	11001	broad.mit.edu	37	15	50528265	50528265	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:50528265C>T	ENST00000267842.5	+	10	2067	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V	SLC27A2_ENST00000544960.1_Missense_Mutation_p.A377V|SLC27A2_ENST00000380902.4_Missense_Mutation_p.A559V	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	612					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		ATCTATAATGCCATAAGTGCT	0.408000													13	132					0	0	1	0	0
KCNJ14	3770	broad.mit.edu	37	19	48965201	48965201	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:48965201C>T	ENST00000391884.1	+	1	696	c.220C>T	c.(220-222)Ctg>Ttg	p.L74L	KCNJ14_ENST00000342291.2_Silent_p.L74L			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	74						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		CGCGCGCTACCTGAGCGACCT	0.667000													3	16					0	0	1	0	0
SHISA3	152573	broad.mit.edu	37	4	42403052	42403052	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:42403052A>C	ENST00000319234.4	+	2	519	c.301A>C	c.(301-303)Atc>Ctc	p.I101L		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	101					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						CCCCTTTCTCATCGTCGGCTC	0.498000													19	151					0	0	1	0	0
PROX1	5629	broad.mit.edu	37	1	214178552	214178552	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:214178552C>T	ENST00000366958.4	+	3	2378	c.1770C>T	c.(1768-1770)ctC>ctT	p.L590L	PROX1_ENST00000498508.2_Silent_p.L590L|PROX1_ENST00000261454.4_Silent_p.L590L|PROX1_ENST00000435016.1_Silent_p.L590L	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	590					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 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 S phase of mitotic cell cycle|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)		AAGCAAAGCTCATGTTTTTTT	0.388000													21	63					0	0	1	0	0
ABCB4	5244	broad.mit.edu	37	7	87031442	87031442	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:87031442G>A	ENST00000265723.4	-	28	3942	c.3831C>T	c.(3829-3831)gtC>gtT	p.V1277V	ABCB4_ENST00000359206.3_Silent_p.V1270V|ABCB4_ENST00000358400.3_Silent_p.V1223V|ABCB4_ENST00000453593.1_Silent_p.V1223V|ABCB4_ENST00000545634.1_Silent_p.V1270V	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1277	ABC transporter 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CCTGGACACTGACCATTGAAA	0.378000													18	113					0	0	1	0	0
EGFR	1956	broad.mit.edu	37	7	55233031	55233031	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:55233031C>T	ENST00000275493.2	+	15	1958	c.1781C>T	c.(1780-1782)aCc>aTc	p.T594I	EGFR_ENST00000342916.3_Missense_Mutation_p.T594I|EGFR_ENST00000344576.2_Missense_Mutation_p.T594I|EGFR_ENST00000455089.1_Missense_Mutation_p.T549I|EGFR_ENST00000454757.2_Missense_Mutation_p.T541I|EGFR_ENST00000442591.1_Missense_Mutation_p.T594I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	594					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCGTCAAGACCTGCCCGGCA	0.562000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			10	96					0	0	1	0	0
OR4K15	81127	broad.mit.edu	37	14	20443780	20443780	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:20443780G>A	ENST00000305051.5	+	1	178	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	35					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)		TCGGGTGACAGAATTTGTGTT	0.398000													16	182					0	0	1	0	0
NDRG4	65009	broad.mit.edu	37	16	58537789	58537789	+	Translation_Start_Site	SNP	C	C	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:58537789C>A	ENST00000569923.1	+	0	307				NDRG4_ENST00000394282.4_Missense_Mutation_p.H89N|NDRG4_ENST00000356752.4_Missense_Mutation_p.H67N|NDRG4_ENST00000394279.2_Missense_Mutation_p.H69N|NDRG4_ENST00000566192.1_Missense_Mutation_p.H37N|NDRG4_ENST00000568640.1_Missense_Mutation_p.H55N|NDRG4_ENST00000570248.1_Missense_Mutation_p.H37N|NDRG4_ENST00000562999.1_Missense_Mutation_p.H37N|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000258187.5_Missense_Mutation_p.H69N|NDRG4_ENST00000563799.1_Missense_Mutation_p.H37N			Q9ULP0	NDRG4_HUMAN	NDRG family member 4						cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						CCTCACCTACCATGATGTGGG	0.642000													10	50					0.00829132	0.0083426	1	1	0
PILRB	29990	broad.mit.edu	37	7	99956643	99956643	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:99956643G>A	ENST00000310771.4	+	16	2891	c.395G>A	c.(394-396)cGg>cAg	p.R132Q	PILRB_ENST00000452089.1_Missense_Mutation_p.R132Q|PILRB_ENST00000444073.1_Missense_Mutation_p.R132Q|PILRB_ENST00000444874.1_Silent_p.P62P|PILRB_ENST00000448382.1_Silent_p.P184P			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta	132	Ig-like V-type.				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)					CTGGACACCCGGAGATCAGGG	0.597000													10	125					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25424236	25424236	+	RNA	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:25424236C>T	ENST00000441592.2	+	0	425																											AGGGGGACCCCTGGCCTTAAG	0.607000													4	13					0	0	1	0	0
OR52K2	119774	broad.mit.edu	37	11	4471433	4471433	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:4471433G>A	ENST00000325719.4	+	1	909	c.864G>A	c.(862-864)atG>atA	p.M288I		NM_001005172.2	NP_001005172.2	Q8NGK3	O52K2_HUMAN	olfactory receptor, family 52, subfamily K, member 2	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|skin(6)	25		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.48e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0821)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCCACCCATGGTCAATCCCA	0.498000													6	129					0	0	1	0	0
DFNB31	25861	broad.mit.edu	37	9	117168646	117168646	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:117168646G>A	ENST00000362057.3	-	9	2393	c.2225C>T	c.(2224-2226)cCc>cTc	p.P742L	DFNB31_ENST00000374059.3_Missense_Mutation_p.P391L|DFNB31_ENST00000265134.6_Missense_Mutation_p.P359L	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219.3	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	742					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCGCGTCTGGGGCAGCGCCCT	0.617000													8	124					0	0	1	0	0
ZBBX	79740	broad.mit.edu	37	3	167045832	167045832	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:167045832C>T	ENST00000392766.2	-	11	1100	c.760G>A	c.(760-762)Gat>Aat	p.D254N	ZBBX_ENST00000455345.2_Missense_Mutation_p.D254N|ZBBX_ENST00000392767.2_Missense_Mutation_p.D254N|ZBBX_ENST00000392764.1_Missense_Mutation_p.D225N|ZBBX_ENST00000307529.5_Missense_Mutation_p.D254N|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	254						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						GCTTCTTCATCGAATGACCCT	0.383000													19	136					0	0	1	0	0
CCR5	1234	broad.mit.edu	37	3	46415026	46415026	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:46415026C>T	ENST00000343801.4	+	3	990	c.633C>T	c.(631-633)gtC>gtT	p.V211V	RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000292303.4_Silent_p.V211V|CCR5_ENST00000445772.1_Silent_p.V211V	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	211					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	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			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)	TTGTCATGGTCATCTGCTACT	0.448000													54	340					0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8197066	8197066	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:8197066C>T	ENST00000520004.1	-	4	2506	c.2242G>A	c.(2242-2244)Ggt>Agt	p.G748S	SGK223_ENST00000330777.4_Missense_Mutation_p.G748S			Q86YV5	SG223_HUMAN		748							ATP binding|non-membrane spanning protein tyrosine kinase activity										ACGTGGACACCCCTGAAGGAT	0.542000													15	70					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31066350	31066350	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr21:31066350C>A	ENST00000399914.1	-	2	672	c.151G>T	c.(151-153)Gtt>Ttt	p.V51F	GRIK1_ENST00000309434.7_Missense_Mutation_p.V51F|GRIK1_ENST00000535441.1_Missense_Mutation_p.V51F|GRIK1_ENST00000389124.2_Missense_Mutation_p.V51F|GRIK1_ENST00000399907.1_Missense_Mutation_p.V51F|GRIK1_ENST00000327783.4_Missense_Mutation_p.V51F|GRIK1_ENST00000389125.3_Missense_Mutation_p.V51F|GRIK1_ENST00000399913.1_Missense_Mutation_p.V51F|GRIK1_ENST00000399909.1_Missense_Mutation_p.V51F|GRIK1_ENST00000472429.1_5'UTR			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	51					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TCAACATTAACAGGCTCATTT	0.378000													5	75					0.000602214	0.00060761	1	1	0
ZNF536	9745	broad.mit.edu	37	19	30934636	30934636	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:30934636C>T	ENST00000355537.3	+	2	314	c.167C>T	c.(166-168)cCc>cTc	p.P56L		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	56					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)					CGGCCCAACCCCGAGGAGAAG	0.677000													8	89					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174609	63174609	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:63174609C>T	ENST00000322893.7	-	11	2852	c.2584G>A	c.(2584-2586)Gat>Aat	p.D862N	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	862					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)		TCACAAGAATCTGTTTTTCTT	0.473000													17	154					0	0	1	0	0
KEL	3792	broad.mit.edu	37	7	142649655	142649655	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:142649655G>A	ENST00000355265.2	-	10	1618	c.1144C>T	c.(1144-1146)Cag>Tag	p.Q382*	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	382			Q -> R (in KEL23 antigen).		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)					CGTGCCTCCTGGAATTGACTG	0.532000													10	66					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169639003	169639003	+	Splice_Site	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:169639003G>A	ENST00000428432.2	+	4	477	c.86_splice	c.e4-1	p.D30_splice	SAMD7_ENST00000335556.3_Splice_Site_p.D30_splice	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	30										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TGTTCTCAGAGATGTATTGCC	0.383000													18	107					0	0	1	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21453500	21453500	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:21453500T>C	ENST00000307378.6	-	9	1412	c.692A>G	c.(691-693)gAt>gGt	p.D231G	SLCO1A2_ENST00000537524.1_Missense_Mutation_p.D99G|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.D231G|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.D99G|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.D229G	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	231					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TATGATCAGATCATCTGTAAA	0.378000													4	25					0	0	1	0	0
SH3D21	79729	broad.mit.edu	37	1	36786005	36786005	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:36786005C>T	ENST00000453908.2	+	14	1769	c.1741C>T	c.(1741-1743)Ccc>Tcc	p.P581S	SH3D21_ENST00000474766.1_3'UTR|SH3D21_ENST00000426732.2_Missense_Mutation_p.P465S|SH3D21_ENST00000312808.4_Missense_Mutation_p.P227S|SH3D21_ENST00000505871.1_Missense_Mutation_p.P470S	NM_001162530.1	NP_001156002.1	A4FU49	SH321_HUMAN	SH3 domain containing 21	465										endometrium(1)|large_intestine(6)|lung(4)|pancreas(1)	12						GAAGCCCCACCCCCACGAAGA	0.612000													7	63					0	0	1	0	0
OR7G2	390882	broad.mit.edu	37	19	9213113	9213113	+	Silent	SNP	C	C	T	rs146853637		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:9213113C>T	ENST00000305456.2	-	1	869	c.870G>A	c.(868-870)agG>agA	p.R290R		NM_001005193.1	NP_001005193.1	Q8NG99	OR7G2_HUMAN	olfactory receptor, family 7, subfamily G, member 2	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R290R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						CTGCAGTCTTCCTAGGTGAGT	0.463000													8	93					0	0	1	0	0
AAMP	14	broad.mit.edu	37	2	219131647	219131647	+	Missense_Mutation	SNP	C	C	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:219131647C>G	ENST00000248450.4	-	4	627	c.457G>C	c.(457-459)Gac>Cac	p.D153H	AAMP_ENST00000444053.1_Missense_Mutation_p.D154H|AAMP_ENST00000420660.1_Missense_Mutation_p.D134H			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	153					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCACTCATGTCCCCTGTGGCC	0.507000													13	81					0	0	1	0	0
COL23A1	91522	broad.mit.edu	37	5	177686729	177686729	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:177686729C>T	ENST00000390654.3	-	12	1079	c.722G>A	c.(721-723)gGa>gAa	p.G241E	COL23A1_ENST00000407622.1_Missense_Mutation_p.G205E	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	241	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)		CACCTTCTTTCCAGGTACTCC	0.622000													10	164					0	0	1	0	0
TEKT5	146279	broad.mit.edu	37	16	10788403	10788403	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:10788403G>A	ENST00000283025.2	-	1	399	c.328C>T	c.(328-330)Ctg>Ttg	p.L110L		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	110					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CTGGCCCACAGCCGGGAGGCC	0.667000													15	123					0	0	1	0	0
TRAV26-1	28657	broad.mit.edu	37	14	22592107	22592107	+	RNA	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:22592107C>T	ENST00000390455.3	+	0	401																											CACAGTATATCATTCATGGTC	0.453000													5	71					0	0	1	0	0
DQX1	165545	broad.mit.edu	37	2	74751426	74751426	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:74751426C>T	ENST00000404568.3	-	4	659	c.440G>A	c.(439-441)tGg>tAg	p.W147*	DQX1_ENST00000393951.2_Nonsense_Mutation_p.W147*	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	147	Helicase ATP-binding.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						CAGCCTGTCCCAGCAGAACCT	0.582000													7	95					0	0	1	0	0
EXO1	9156	broad.mit.edu	37	1	242042459	242042459	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:242042459C>T	ENST00000366548.3	+	13	2516	c.1923C>T	c.(1921-1923)acC>acT	p.T641T	EXO1_ENST00000348581.5_Silent_p.T641T|EXO1_ENST00000518483.1_Silent_p.T641T	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	641	Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			ATTCCCCCACCTCTTTGCCTG	0.493000								Editing and processing nucleases					5	102					0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52967233	52967233	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:52967233C>T	ENST00000549343.1	-	1	367	c.329G>A	c.(328-330)gGg>gAg	p.G110E	KRT74_ENST00000305620.2_Missense_Mutation_p.G110E			Q7RTS7	K2C74_HUMAN	keratin 74	110	Gly-rich.|Head.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		GTGGATGCCCCCAGGTGGGCA	0.642000													15	106					0	0	1	0	0
GPR157	80045	broad.mit.edu	37	1	9164481	9164481	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:9164481G>A	ENST00000377411.4	-	4	1147	c.1005C>T	c.(1003-1005)acC>acT	p.T335T	GPR157_ENST00000414642.2_Silent_p.T270T	NM_024980.4	NP_079256.4	Q5UAW9	GP157_HUMAN	G protein-coupled receptor 157	335						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(4)|prostate(1)	5	all_lung(157;0.185)	all_epithelial(116;5.02e-20)|all_lung(118;3.6e-06)|Lung NSC(185;7.93e-06)|Renal(390;0.000147)|Breast(348;0.000688)|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;6.16e-07)|COAD - Colon adenocarcinoma(227;7.73e-05)|Kidney(185;0.000252)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.00178)|BRCA - Breast invasive adenocarcinoma(304;0.00186)|READ - Rectum adenocarcinoma(331;0.0642)		CAAAAGCTCAGGTGCTTGGAA	0.597000													6	64					0	0	1	0	0
NRF1	4899	broad.mit.edu	37	7	129348935	129348935	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:129348935C>T	ENST00000393232.1	+	6	744	c.627C>T	c.(625-627)atC>atT	p.I209I	NRF1_ENST00000353868.4_Silent_p.I209I|NRF1_ENST00000393230.2_Silent_p.I209I|NRF1_ENST00000223190.4_Silent_p.I209I|NRF1_ENST00000393231.3_Silent_p.I209I|NRF1_ENST00000539636.1_Silent_p.I48I|NRF1_ENST00000311967.2_Silent_p.I209I	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	209					generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						GGGCATTTATCCCAGAGATGC	0.488000													48	450					0	0	1	0	0
RPL3L	6123	broad.mit.edu	37	16	1997298	1997298	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:1997298G>A	ENST00000268661.7	-	5	679	c.585C>T	c.(583-585)gcC>gcT	p.A195A		NM_005061.2	NP_005052.1	Q92901	RL3L_HUMAN	ribosomal protein L3-like	195					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CCTGGGCCCAGGCCACCTTCT	0.622000													5	71					0	0	1	0	0
DHX57	90957	broad.mit.edu	37	2	39083584	39083584	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:39083584G>A	ENST00000295373.6	-	7	1733	c.1607C>T	c.(1606-1608)tCc>tTc	p.S536F		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	536							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				TTGCAGAATGGACTGGAACTG	0.383000													8	123					0	0	1	0	0
OR11G2	390439	broad.mit.edu	37	14	20666514	20666514	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:20666514G>A	ENST00000357366.3	+	1	1020	c.1020G>A	c.(1018-1020)aaG>aaA	p.K340K		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	340					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)		AAGCTCTGAAGAAATTTTGGG	0.358000													13	143					0	0	1	0	0
BEND2	139105	broad.mit.edu	37	X	18192212	18192212	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:18192212G>A	ENST00000380033.4	-	12	2051	c.1919C>T	c.(1918-1920)gCt>gTt	p.A640V	BEND2_ENST00000380030.3_Missense_Mutation_p.A549V	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	640										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TTCAGGGATAGCATTACTGTT	0.408000													5	27					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	30974079	30974079	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:30974079G>A	ENST00000597505.1	-	19	2627	c.2628C>T	c.(2626-2628)ggC>ggT	p.G876G	DCDC1_ENST00000339794.5_5'UTR|DCDC1_ENST00000406071.2_5'UTR|DCDC1_ENST00000437348.1_Intron			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GTTTCCACTGGCCTGGCTTAC	0.373000													3	21					0	0	1	0	0
TMEM151A	256472	broad.mit.edu	37	11	66062028	66062028	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:66062028C>T	ENST00000327259.4	+	2	455	c.311C>T	c.(310-312)gCc>gTc	p.A104V		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	104						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						ATCCCGCTGGCCTTCGTCTCC	0.726000													3	27					0	0	1	0	0
OR9G4	283189	broad.mit.edu	37	11	56511000	56511000	+	Silent	SNP	G	G	A	rs147756755		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:56511000G>A	ENST00000302957.3	-	1	287	c.288C>T	c.(286-288)atC>atT	p.I96I		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	96					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						AACTGGCCAGGATTTTGGGGG	0.438000													10	128					0	0	1	0	0
NMUR2	56923	broad.mit.edu	37	5	151784402	151784402	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:151784402G>A	ENST00000255262.3	-	1	438	c.273C>T	c.(271-273)gaC>gaT	p.D91D	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	91					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGACCAGGAGGTCAGAGACCG	0.587000													14	124					0	0	1	0	0
TMEM225	338661	broad.mit.edu	37	11	123753855	123753855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:123753855C>T	ENST00000375026.2	-	4	884	c.668G>A	c.(667-669)tGg>tAg	p.W223*		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	223						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						TCACAGAGCCCAGGTTACGTG	0.423000													7	100					0	0	1	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79768611	79768611	+	Silent	SNP	C	C	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:79768611C>A	ENST00000338008.5	+	15	4236	c.4056C>A	c.(4054-4056)acC>acA	p.T1352T	ZFYVE16_ENST00000505560.1_Silent_p.T1352T|ZFYVE16_ENST00000510158.1_Silent_p.T1352T	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1352					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		CTCCAGAGACCATGAATGGCT	0.368000													6	69					5.9392e-07	6.03819e-07	1	1	0
UNC5D	137970	broad.mit.edu	37	8	35606077	35606077	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:35606077G>A	ENST00000287272.2	+	11	1612	c.1592G>A	c.(1591-1593)aGt>aAt	p.S531N	UNC5D_ENST00000449677.1_Missense_Mutation_p.S176N|UNC5D_ENST00000420357.1_Missense_Mutation_p.S533N|UNC5D_ENST00000453357.2_Missense_Mutation_p.S595N|UNC5D_ENST00000416672.1_Missense_Mutation_p.S605N|UNC5D_ENST00000404895.2_Missense_Mutation_p.S600N			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	600					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GTGCTCCTGAGTCCTGAAGTC	0.478000													8	116					0	0	1	0	0
LRIG3	121227	broad.mit.edu	37	12	59276766	59276766	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:59276766G>A	ENST00000320743.3	-	12	1651	c.1365C>T	c.(1363-1365)ctC>ctT	p.L455L	LRIG3_ENST00000379141.4_Silent_p.L395L	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	455	LRRCT.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CCCACTGTGGGAGCCATTTTA	0.423000			T	ROS1	NSCLC								12	71					0	0	1	0	0
SPTBN5	51332	broad.mit.edu	37	15	42170571	42170571	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:42170571G>A	ENST00000320955.6	-	17	3666	c.3439C>T	c.(3439-3441)Ctg>Ttg	p.L1147L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1147					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCTCCAGCAGGTCTTGGTGC	0.642000													4	35					0	0	1	0	0
OXR1	55074	broad.mit.edu	37	8	107722926	107722926	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:107722926G>A	ENST00000445937.1	+	10	1962	c.1701G>A	c.(1699-1701)agG>agA	p.R567R	OXR1_ENST00000312046.6_Silent_p.R560R|OXR1_ENST00000517566.2_Silent_p.R567R|OXR1_ENST00000442977.2_Silent_p.R568R|OXR1_ENST00000452423.2_Silent_p.R57R|OXR1_ENST00000531443.1_Silent_p.R567R	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	568					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AACCAATGAGGAAAACGTTTG	0.368000													23	68					0	0	1	0	0
COBLL1	22837	broad.mit.edu	37	2	165551830	165551830	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:165551830C>T	ENST00000375458.2	-	11	2293	c.2072G>A	c.(2071-2073)aGg>aAg	p.R691K	COBLL1_ENST00000194871.6_Missense_Mutation_p.R796K|COBLL1_ENST00000342193.4_Missense_Mutation_p.R729K|COBLL1_ENST00000392717.2_Missense_Mutation_p.R767K|COBLL1_ENST00000409184.3_Missense_Mutation_p.R729K	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	767										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						TTTGTCAATCCTATCTACAGG	0.388000													7	175					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344906	20344906	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:20344906C>T	ENST00000298642.2	+	1	516	c.480C>T	c.(478-480)gtC>gtT	p.V160V		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			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)		TGAGTCAGGTCATATTTGCCC	0.488000													44	286					0	0	1	0	0
TMEM57	55219	broad.mit.edu	37	1	25784985	25784985	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:25784985C>T	ENST00000374343.4	+	6	935	c.756C>T	c.(754-756)taC>taT	p.Y252Y	TMEM57_ENST00000470035.1_3'UTR|TMEM57_ENST00000399766.3_Intron|TMEM57_ENST00000399763.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	252						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)		AGATAGAATACCGAGAAAAAG	0.378000													11	115					0	0	1	0	0
C20orf194	25943	broad.mit.edu	37	20	3324333	3324333	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:3324333T>G	ENST00000252032.9	-	9	902	c.835A>C	c.(835-837)Act>Cct	p.T279P		NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	279										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CTGTTTTCAGTTATATGGCTA	0.393000													30	401					0	0	1	0	0
CCSER2	54462	broad.mit.edu	37	10	86131489	86131489	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:86131489C>T	ENST00000224756.8	+	2	866	c.681C>T	c.(679-681)tcC>tcT	p.S227S	CCSER2_ENST00000372088.2_Silent_p.S227S|CCSER2_ENST00000359979.4_Silent_p.S227S	NM_018999.2	NP_061872.2			coiled-coil serine-rich protein 2																		TTTCACATTCCATTCAGAATT	0.383000													6	104					0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87060836	87060836	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:87060836C>T	ENST00000276616.2	-	3	1087	c.1013G>A	c.(1012-1014)cGa>cAa	p.R338Q		NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	338							ATP binding|protein serine/threonine kinase activity	p.R338Q(1)		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)			CATGAGGTTTCGGGATATGGC	0.547000													27	89					0	0	1	0	0
SLC2A14	144195	broad.mit.edu	37	12	7967020	7967020	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:7967020G>A	ENST00000543909.1	-	16	2214	c.1455C>T	c.(1453-1455)atC>atT	p.I485I	SLC2A14_ENST00000539924.1_Silent_p.I500I|SLC2A14_ENST00000535295.1_Silent_p.I376I|SLC2A14_ENST00000396589.2_Silent_p.I485I|SLC2A14_ENST00000542505.1_Silent_p.I126I|SLC2A14_ENST00000340749.5_Silent_p.I462I|SLC2A14_ENST00000431042.2_Silent_p.I462I|SLC2A14_ENST00000542546.1_Silent_p.I376I			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	485					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		AGGCCCGTGTGATATCCTCAA	0.527000													15	226					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114185963	114185963	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:114185963G>A	ENST00000297405.5	-	4	941	c.697C>T	c.(697-699)Cct>Tct	p.P233S	CSMD3_ENST00000455883.2_Missense_Mutation_p.P233S|CSMD3_ENST00000343508.3_Missense_Mutation_p.P193S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P233S|CSMD3_ENST00000519485.1_5'UTR	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	233	Sushi 1.					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						CTACAGATAGGAACAGGAAAA	0.413000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			26	104					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143513897	143513897	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:143513897C>T	ENST00000316549.6	-	4	687	c.479G>A	c.(478-480)gGa>gAa	p.G160E		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	160					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TAAAATAGATCCTAAGTTTTG	0.373000													15	89					0	0	1	0	0
TAS2R5	54429	broad.mit.edu	37	7	141490901	141490901	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:141490901A>C	ENST00000247883.4	+	1	885	c.740A>C	c.(739-741)tAt>tCt	p.Y247S		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	247					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					TCCAAGACTTATCCTCCTGAT	0.502000													28	212					0	0	1	0	0
CAMKV	79012	broad.mit.edu	37	3	49896968	49896968	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:49896968G>A	ENST00000477224.1	-	11	1767	c.1289C>T	c.(1288-1290)aCt>aTt	p.T430I	CAMKV_ENST00000467248.1_Missense_Mutation_p.T355I|CAMKV_ENST00000466940.1_Missense_Mutation_p.T356I|CAMKV_ENST00000488336.1_Missense_Mutation_p.T399I|CAMKV_ENST00000296471.7_Missense_Mutation_p.T402I|CAMKV_ENST00000463537.1_Silent_p.L362L			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	430	Ala-rich.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCTCCCATCAGTGGCTGGAGT	0.632000													22	196					0	0	1	0	0
ANLN	54443	broad.mit.edu	37	7	36461540	36461540	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:36461540T>G	ENST00000265748.2	+	13	2459	c.2238T>G	c.(2236-2238)gaT>gaG	p.D746E	ANLN_ENST00000396068.2_Missense_Mutation_p.D709E	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	746	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GCTGTGTTGATGAAGAACATG	0.393000													26	71					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157512805	157512805	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:157512805G>A	ENST00000361835.3	-	6	1124	c.967C>T	c.(967-969)Cat>Tat	p.H323Y	FCRL5_ENST00000356953.4_Missense_Mutation_p.H323Y|FCRL5_ENST00000368190.3_Missense_Mutation_p.H323Y|FCRL5_ENST00000368191.3_Missense_Mutation_p.H238Y|FCRL5_ENST00000368189.3_Missense_Mutation_p.H323Y	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	323	Ig-like C2-type 3.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACACCCTCATGATAAAACCTG	0.498000													5	88					0	0	1	0	0
RHOU	58480	broad.mit.edu	37	1	228873460	228873460	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:228873460C>T	ENST00000366691.3	+	2	969	c.303C>T	c.(301-303)ctC>ctT	p.L101L		NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN	ras homolog family member U	101					regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				GACTCCAACTCTGTGACACTG	0.463000													9	57					0	0	1	0	0
KPNB1	3837	broad.mit.edu	37	17	45730068	45730068	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:45730068C>T	ENST00000290158.4	+	3	515	c.108C>T	c.(106-108)ttC>ttT	p.F36F	KPNB1_ENST00000577918.1_3'UTR|KPNB1_ENST00000540627.1_5'UTR|KPNB1_ENST00000535458.2_5'UTR	NM_001276453.1|NM_002265.4	NP_001263382.1|NP_002256.2	Q14974	IMB1_HUMAN	karyopherin (importin) beta 1	36	Importin N-terminal.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						AGCCCACTTTCCTTGTGGAAC	0.418000													5	69					0	0	1	0	0
FLG	2312	broad.mit.edu	37	1	152277232	152277232	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:152277232C>T	ENST00000368799.1	-	3	10165	c.10130G>A	c.(10129-10131)gGg>gAg	p.G3377E	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3377	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)			AGACCTTCCCCCTGACCGGTC	0.592000									Ichthyosis				28	664					0	0	1	0	0
DPCR1	135656	broad.mit.edu	37	6	30919629	30919629	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:30919629G>A	ENST00000462446.1	+	2	3416	c.3388G>A	c.(3388-3390)Gat>Aat	p.D1130N	DPCR1_ENST00000304311.2_5'UTR|HCG21_ENST00000419481.1_RNA			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	270						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						AGAACATAGAGATAGGGCTAC	0.478000													3	32					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70417686	70417686	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:70417686G>A	ENST00000327305.6	-	9	1809	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	NETO1_ENST00000583169.1_Silent_p.F384F|NETO1_ENST00000299430.2_Silent_p.F383F	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	384					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATACCTCCTGGAAAACTGTCT	0.428000													6	108					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20448482	20448482	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:20448482G>A	ENST00000331849.4	+	11	1564	c.1417G>A	c.(1417-1419)Gat>Aat	p.D473N		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	473					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						AAGAAACGACGATGTGATCAA	0.473000													26	229					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42045906	42045906	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:42045906G>A	ENST00000372584.1	-	3	5577	c.4563C>T	c.(4561-4563)tcC>tcT	p.S1521S	HIVEP3_ENST00000429157.2_Silent_p.S1521S|HIVEP3_ENST00000372583.1_Silent_p.S1521S|HIVEP3_ENST00000247584.5_Silent_p.S1521S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1521					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)				CTGTCCCATGGGACAATGCAG	0.557000													6	78					0	0	1	0	0
PPP1CC	5501	broad.mit.edu	37	12	111162496	111162496	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:111162496G>A	ENST00000335007.5	-	4	682	c.492C>T	c.(490-492)atC>atT	p.I164I	PPP1CC_ENST00000340766.5_Silent_p.I164I|PPP1CC_ENST00000550991.1_Silent_p.I164I|PPP1CC_ENST00000551676.1_Silent_p.I164I|PPP1CC_ENST00000546933.1_Silent_p.I173I	NM_002710.3	NP_002701.1	P36873	PP1G_HUMAN	protein phosphatase 1, catalytic subunit, gamma isozyme	164					cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process	cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|MLL5-L complex|nuclear speck|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|large_intestine(2)|lung(3)	6						TCTCATCCACGATGGCTGCTA	0.363000													17	116					0	0	1	0	0
MYF5	4617	broad.mit.edu	37	12	81112829	81112829	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:81112829G>A	ENST00000228644.3	+	3	919	c.767G>A	c.(766-768)tGa>tAa	p.*256*		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	0					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						CATGTGCTATGAACTAATTTT	0.463000													6	53					0	0	1	0	0
ANGPTL5	253935	broad.mit.edu	37	11	101762199	101762199	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:101762199G>A	ENST00000334289.3	-	9	1573	c.978C>T	c.(976-978)caC>caT	p.H326H		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	326	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TGTTATGGAGGTGACTGCAGC	0.438000													14	161					0	0	1	0	0
FCAMR	83953	broad.mit.edu	37	1	207139168	207139168	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:207139168G>A	ENST00000324852.4	-	4	679	c.205C>T	c.(205-207)Ccg>Tcg	p.P69S	FCAMR_ENST00000400962.3_Missense_Mutation_p.P69S|FCAMR_ENST00000450945.2_Missense_Mutation_p.P69S	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	24	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						AGCCATCTCGGATGGGGTCTT	0.602000													11	51					0	0	1	0	0
FRMPD1	22844	broad.mit.edu	37	9	37719072	37719072	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:37719072C>T	ENST00000539465.1	+	6	1008	c.415C>T	c.(415-417)Cct>Tct	p.P139S	FRMPD1_ENST00000377765.3_Missense_Mutation_p.P139S|FRMPD1_ENST00000536622.1_5'UTR|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000541302.1_Missense_Mutation_p.P8S			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	139						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		TCAGGGAGTCCCTAAATCGTC	0.433000													10	58					0	0	1	0	0
OR10X1	128367	broad.mit.edu	37	1	158549606	158549606	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:158549606G>A	ENST00000368150.1	-	1	83	c.84C>T	c.(82-84)ttC>ttT	p.F28F		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					CAACAAGAATGAATTCCTTCA	0.363000													41	129					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453137	140453137	+	Missense_Mutation	SNP	C	C	T	rs121913227		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:140453137C>T	ENST00000288602.6	-	15	1858	c.1798G>A	c.(1798-1800)Gtg>Atg	p.V600M		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600K(252)|p.V600R(44)|p.V600M(21)|p.V600L(9)|p.T599_R603>I(2)|p.T599_V600>IAL(2)|p.V600Q(2)|p.T599_V600insT(2)|p.T599_V600insTT(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CGAGATTTCACTGTAGCTAGA	0.363000	V600M(IGR1_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				8	88					0	0	1	0	0
GRIK2	2898	broad.mit.edu	37	6	102124560	102124560	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:102124560C>T	ENST00000369138.1	+	4	1094	c.604C>T	c.(604-606)Cgt>Tgt	p.R202C	GRIK2_ENST00000369134.4_Missense_Mutation_p.R153C|GRIK2_ENST00000318991.6_Missense_Mutation_p.R202C|GRIK2_ENST00000358361.3_Missense_Mutation_p.R202C|GRIK2_ENST00000421544.1_Missense_Mutation_p.R202C|GRIK2_ENST00000369137.3_Missense_Mutation_p.R202C|GRIK2_ENST00000413795.1_Missense_Mutation_p.R202C	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	202					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	p.R202C(4)		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)	ACTCAAAATTCGTCAGTTACC	0.343000													4	44					0	0	1	0	0
CCNL1	57018	broad.mit.edu	37	3	156867344	156867344	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:156867344A>C	ENST00000295926.3	-	9	1181	c.1063T>G	c.(1063-1065)Tcc>Gcc	p.S355A	CCNL1_ENST00000461804.1_Missense_Mutation_p.S355A	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	355					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			ACATTAATGGAGATTGGTGAT	0.378000													12	92					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179436049	179436049	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179436049C>T	ENST00000589042.1	-	326	75034	c.74810G>A	c.(74809-74811)gGa>gAa	p.G24937E	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G15997E|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G16064E|TTN_ENST00000342992.6_Missense_Mutation_p.G22369E|TTN_ENST00000460472.2_Missense_Mutation_p.G15872E|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G23296E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23296	Fibronectin type-III 81.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACTCTACTTCCTCCATCACT	0.438000													26	120					0	0	1	0	0
EXD1	161829	broad.mit.edu	37	15	41488011	41488011	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:41488011G>A	ENST00000314992.5	-	7	698	c.508C>T	c.(508-510)Cag>Tag	p.Q170*	EXD1_ENST00000458580.2_Nonsense_Mutation_p.Q228*	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	170					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						ATTCCATACTGATGAGAGAGG	0.413000													12	48					0	0	1	0	0
LRP1	4035	broad.mit.edu	37	12	57574473	57574473	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:57574473C>T	ENST00000243077.3	+	33	5876	c.5410C>T	c.(5410-5412)Cag>Tag	p.Q1804*		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1804					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGGGCTGATCAGGTGTCGGA	0.612000													16	65					0	0	1	0	0
MLXIP	22877	broad.mit.edu	37	12	122623425	122623425	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:122623425G>A	ENST00000319080.6	+	15	2580	c.2448G>A	c.(2446-2448)atG>atA	p.M816I	MLXIP_ENST00000538698.1_Missense_Mutation_p.M423I			Q9HAP2	MLXIP_HUMAN	MLX interacting protein	816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		TTGATCACATGAAAGACATGT	0.547000													8	46					0	0	1	0	0
PRKG1	5592	broad.mit.edu	37	10	54049986	54049986	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:54049986G>A	ENST00000373980.4	+	17	2315	c.1898G>A	c.(1897-1899)tGg>tAg	p.W633*	PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000401604.2_Nonsense_Mutation_p.W618*|PRKG1_ENST00000373985.1_Nonsense_Mutation_p.W606*|PRKG1_ENST00000373975.2_Nonsense_Mutation_p.W336*|PRKG1-AS1_ENST00000452247.2_RNA	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	618	AGC-kinase C-terminal.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		TTTTCTAGATGGTTTGAGGGC	0.378000													7	83					0	0	1	0	0
CASS4	57091	broad.mit.edu	37	20	55027271	55027271	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:55027271C>T	ENST00000371336.3	+	5	1240	c.1039C>T	c.(1039-1041)Ccc>Tcc	p.P347S	CASS4_ENST00000360314.3_Missense_Mutation_p.P347S|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	347					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GAACACCAAGCCCAATATTTA	0.488000													12	77					0	0	1	0	0
GARNL3	84253	broad.mit.edu	37	9	130149584	130149584	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:130149584C>T	ENST00000373387.4	+	25	2853	c.2501C>T	c.(2500-2502)cCa>cTa	p.P834L	GARNL3_ENST00000435213.2_Missense_Mutation_p.P812L|GARNL3_ENST00000314904.5_Intron|GARNL3_ENST00000496711.1_3'UTR	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	834					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						CGAGATACTCCAGTATTTCCT	0.458000													8	48					0	0	1	0	0
CLK1	1195	broad.mit.edu	37	2	201724939	201724939	+	Splice_Site	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:201724939C>T	ENST00000434813.2	-	4	851		c.e4-1		CLK1_ENST00000321356.4_Splice_Site	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1						cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						GGTGACTCTTCTGGAAACGTC	0.468000													11	99					0	0	1	0	0
SYMPK	8189	broad.mit.edu	37	19	46347386	46347386	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:46347386G>A	ENST00000245934.7	-	8	993	c.749C>T	c.(748-750)tCc>tTc	p.S250F		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	250					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)		CAGGTTGATGGAGGAGATGGC	0.557000													6	100					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887496	12887496	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:12887496C>T	ENST00000535591.1	-	3	556	c.361G>A	c.(361-363)Gat>Aat	p.D121N		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	121								p.D121N(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AGGTATTCATCCAGAGTCCTG	0.483000													47	741					0	0	1	0	0
PRB2	653247	broad.mit.edu	37	12	11546671	11546671	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:11546671G>A	ENST00000389362.4	-	3	376	c.341C>T	c.(340-342)cCt>cTt	p.P114L	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											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)			CTTTCCTGGAGGAGATCGGGG	0.617000													42	1164					0	0	1	0	0
EIF3E	3646	broad.mit.edu	37	8	109215673	109215673	+	Nonsense_Mutation	SNP	A	A	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:109215673A>T	ENST00000220849.5	-	11	1183	c.1121T>A	c.(1120-1122)tTg>tAg	p.L374*	EIF3E_ENST00000519030.1_Nonsense_Mutation_p.L281*	NM_001568.2	NP_001559.1	P60228	EIF3E_HUMAN	eukaryotic translation initiation factor 3, subunit E	374	PCI.|Sufficient for interaction with MCM7.				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			ATTTCTAATCAAATTTACAAT	0.338000													15	70					0	0	1	0	0
GUCY2C	2984	broad.mit.edu	37	12	14836030	14836030	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:14836030G>A	ENST00000261170.3	-	4	693	c.557C>T	c.(556-558)tCc>tTc	p.S186F	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	186					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						AGTGCTCCAGGAATAAGTTTT	0.393000													9	69					0	0	1	0	0
TCF4	6925	broad.mit.edu	37	18	52896297	52896297	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:52896297C>T	ENST00000354452.3	-	18	2271	c.1660G>A	c.(1660-1662)Gat>Aat	p.D554N	TCF4_ENST00000570177.2_Missense_Mutation_p.D420N|TCF4_ENST00000398339.1_Missense_Mutation_p.D656N|TCF4_ENST00000544241.2_Missense_Mutation_p.D483N|TCF4_ENST00000543082.1_Missense_Mutation_p.D508N|TCF4_ENST00000564228.1_Missense_Mutation_p.D479N|TCF4_ENST00000356073.4_Missense_Mutation_p.D550N|TCF4_ENST00000537578.1_Missense_Mutation_p.D530N|TCF4_ENST00000561992.1_Missense_Mutation_p.D420N|TCF4_ENST00000561831.3_Missense_Mutation_p.D390N|TCF4_ENST00000564403.2_Missense_Mutation_p.D560N|TCF4_ENST00000537856.3_Missense_Mutation_p.D420N|TCF4_ENST00000568740.1_Missense_Mutation_p.D525N|TCF4_ENST00000564999.1_Missense_Mutation_p.D550N|TCF4_ENST00000567880.1_Missense_Mutation_p.D490N|TCF4_ENST00000457482.3_Missense_Mutation_p.D394N|TCF4_ENST00000540999.1_Missense_Mutation_p.D526N|TCF4_ENST00000570287.2_Missense_Mutation_p.D390N|TCF4_ENST00000568673.1_Missense_Mutation_p.D530N|TCF4_ENST00000566279.1_Missense_Mutation_p.D494N|TCF4_ENST00000565018.2_Missense_Mutation_p.D554N|TCF4_ENST00000566286.1_Missense_Mutation_p.D547N	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	550					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		AGGTCCTCATCGTCATTATTG	0.507000													10	107					0	0	1	0	0
MED13L	23389	broad.mit.edu	37	12	116429580	116429580	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:116429580G>A	ENST00000281928.3	-	17	3385	c.3179C>T	c.(3178-3180)cCc>cTc	p.P1060L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1060					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					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)		CCCACCTCTGGGAGTTCTTGG	0.607000													10	86					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712468	121712468	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:121712468G>A	ENST00000273691.3	-	6	1101	c.996C>T	c.(994-996)ttC>ttT	p.F332F	ILDR1_ENST00000462014.1_Silent_p.F344F|ILDR1_ENST00000344209.5_Silent_p.F376F|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Silent_p.F287F	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	376						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GCTCCTGGTGGAAATCAGGGT	0.602000													5	75					0	0	1	0	0
CACNA1D	776	broad.mit.edu	37	3	53844201	53844201	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:53844201C>T	ENST00000288139.3	+	48	6246	c.6128C>T	c.(6127-6129)tCc>tTc	p.S2043F	CACNA1D_ENST00000350061.5_Missense_Mutation_p.S2023F|CACNA1D_ENST00000422281.2_Missense_Mutation_p.S1999F|CACNA1D_ENST00000544977.1_3'UTR	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	2023					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CACCGCAGCTCCTGGTACACA	0.622000													19	76					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10364514	10364514	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:10364514C>T	ENST00000377093.4	+	21	3424	c.3271C>T	c.(3271-3273)Cgc>Tgc	p.R1091C	KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.R1091C|KIF1B_ENST00000377086.1_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					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)		CCAGGCAAAGCGCCATATTCA	0.512000													9	143					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179577062	179577062	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179577062G>A	ENST00000589042.1	-	95	27811	c.27587C>T	c.(27586-27588)tCa>tTa	p.S9196L	TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S7952L|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S8879L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8879	Ig-like 75.						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)			TATTTGTGCTGAACAGGAATC	0.383000													38	205					0	0	1	0	0
MTERFD2	130916	broad.mit.edu	37	2	242039037	242039037	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:242039037G>A	ENST00000391980.2	-	2	352	c.294C>T	c.(292-294)tcC>tcT	p.S98S	MTERFD2_ENST00000406593.1_Intron|MTERFD2_ENST00000407095.3_Silent_p.S98S|MTERFD2_ENST00000495694.1_Silent_p.S98S	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	98										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|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;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		TGTCCAGGAGGGAACTCATGA	0.498000													23	138					0	0	1	0	0
CATSPER1	117144	broad.mit.edu	37	11	65784384	65784384	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:65784384C>T	ENST00000312106.5	-	12	2457	c.2320G>A	c.(2320-2322)Gga>Aga	p.G774R		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	774					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TCCTCTTCTCCAGCCTGCAGG	0.597000													12	54					0	0	1	0	0
OR6A2	8590	broad.mit.edu	37	11	6816143	6816143	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:6816143C>T	ENST00000332601.3	-	1	985	c.797G>A	c.(796-798)cGg>cAg	p.R266Q		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TGCCTTTGGCCGAGCATAGAT	0.468000													8	114					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38598755	38598755	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:38598755C>T	ENST00000413689.1	-	24	4459	c.4266G>A	c.(4264-4266)atG>atA	p.M1422I	SCN5A_ENST00000425664.1_Intron|SCN5A_ENST00000423572.2_Missense_Mutation_p.M1421I|SCN5A_ENST00000414099.2_Intron|SCN5A_ENST00000451551.2_Missense_Mutation_p.M1368I|SCN5A_ENST00000333535.4_Missense_Mutation_p.M1422I|SCN5A_ENST00000450102.2_Missense_Mutation_p.M1368I|SCN5A_ENST00000449557.2_Missense_Mutation_p.M1368I|SCN5A_ENST00000443581.1_Missense_Mutation_p.M1421I|SCN5A_ENST00000455624.2_Missense_Mutation_p.M1421I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1422					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)	ACATAATGTCCATCCAGCCTT	0.507000													6	44					0	0	1	0	0
SH2D1B	117157	broad.mit.edu	37	1	162381743	162381743	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:162381743C>T	ENST00000367929.2	-	1	173	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	SH2D1B_ENST00000359567.3_Missense_Mutation_p.E22K|SH2D1B_ENST00000493550.1_5'UTR	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	22	SH2.									kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCCACCCCTTCCTTGAGCAGC	0.527000													21	91					0	0	1	0	0
HARBI1	283254	broad.mit.edu	37	11	46625138	46625138	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:46625138G>A	ENST00000326737.3	-	3	1239	c.992C>T	c.(991-993)tCc>tTc	p.S331F		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	331						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						TAAGTCCAGGGACTCCATGTG	0.522000													7	65					0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98188611	98188611	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:98188611G>A	ENST00000332650.5	+	1	288	c.191G>A	c.(190-192)gGa>gAa	p.G64E		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	64					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						ATCTTTCTGGGAAATCTGGCT	0.428000													43	307					0	0	1	0	0
TFDP3	51270	broad.mit.edu	37	X	132351792	132351792	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:132351792C>T	ENST00000310125.4	-	1	584	c.496G>A	c.(496-498)Gat>Aat	p.D166N		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	166						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TTTAAGGCATCGTAGGTGCGC	0.507000													8	43					0	0	1	0	0
IPO8	10526	broad.mit.edu	37	12	30824022	30824022	+	Silent	SNP	T	T	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:30824022T>C	ENST00000256079.4	-	9	1256	c.918A>G	c.(916-918)ctA>ctG	p.L306L	IPO8_ENST00000544829.1_Silent_p.L101L	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	306					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CTAAAATTTTTAGTAGCACCT	0.353000													11	76					0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7862547	7862547	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:7862547C>T	ENST00000283147.6	+	4	1179	c.1020C>T	c.(1018-1020)caC>caT	p.H340H		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	340					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TCCACGTCCACCCCCGAGCCG	0.517000													6	116					0	0	1	0	0
DPP10	57628	broad.mit.edu	37	2	116593799	116593799	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:116593799G>A	ENST00000410059.1	+	22	2497	c.2017G>A	c.(2017-2019)Gtg>Atg	p.V673M	DPP10_ENST00000310323.8_Missense_Mutation_p.V666M|DPP10_ENST00000393147.2_Missense_Mutation_p.V677M|DPP10_ENST00000409163.1_Missense_Mutation_p.V623M	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	673					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATGTGGATCCGTGGTTGCACC	0.333000													8	35					0	0	1	0	0
CADPS	8618	broad.mit.edu	37	3	62739405	62739405	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:62739405C>T	ENST00000383710.4	-	3	948	c.599G>A	c.(598-600)gGa>gAa	p.G200E	CADPS_ENST00000283269.9_Missense_Mutation_p.G200E|CADPS_ENST00000357948.3_Missense_Mutation_p.G200E|CADPS_ENST00000490353.2_Missense_Mutation_p.G200E	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	200					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GGAACAGCCTCCACTCTGAAC	0.562000													5	56					0	0	1	0	0
LIN28B	389421	broad.mit.edu	37	6	105406088	105406088	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:105406088G>A	ENST00000345080.4	+	2	328	c.125G>A	c.(124-126)gGa>gAa	p.G42E		NM_001004317.3	NP_001004317.1	Q6ZN17	LN28B_HUMAN	lin-28 homolog B (C. elegans)	42	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing	cytoplasm|nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			large_intestine(1)|lung(10)|ovary(1)	12		all_cancers(87;0.00346)|Acute lymphoblastic leukemia(125;2.26e-08)|all_hematologic(75;2.79e-06)|all_epithelial(87;0.204)				GTGCGCATGGGATTTGGATTC	0.527000													10	116					0	0	1	0	0
SLC9A9	285195	broad.mit.edu	37	3	143513844	143513844	+	Splice_Site	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:143513844C>T	ENST00000316549.6	-	4	740	c.533_splice	c.e4+1	p.G178_splice		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	178					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GTCACTTACCCTATGACGATG	0.438000													14	92					0	0	1	0	0
PCDHGA10	56106	broad.mit.edu	37	5	140793903	140793903	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140793903C>T	ENST00000398610.2	+	1	1161	c.1161C>T	c.(1159-1161)acC>acT	p.T387T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGGTAACCTGTTCCATTT	0.418000													5	68					0	0	1	0	0
PCSK1	5122	broad.mit.edu	37	5	95734736	95734736	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:95734736G>A	ENST00000311106.3	-	11	1672	c.1435C>T	c.(1435-1437)Ctg>Ttg	p.L479L	PCSK1_ENST00000513085.1_5'UTR|PCSK1_ENST00000508626.1_Silent_p.L432L|CTD-2337A12.1_ENST00000502645.2_RNA	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	479					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)	TTAGCTTTCAGGGCTCTAAAT	0.358000													4	35					0	0	1	0	0
CTTNBP2	83992	broad.mit.edu	37	7	117364746	117364746	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:117364746G>A	ENST00000160373.3	-	19	4393	c.4302C>T	c.(4300-4302)ttC>ttT	p.F1434F		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	1434										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TGGATAAAGGGAAACTTCCTC	0.428000													4	68					0	0	1	0	0
C1orf141	400757	broad.mit.edu	37	1	67561094	67561094	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:67561094G>A	ENST00000371007.2	-	7	536	c.427C>T	c.(427-429)Cca>Tca	p.P143S	C1orf141_ENST00000544837.1_Missense_Mutation_p.P143S|C1orf141_ENST00000371006.1_Missense_Mutation_p.P143S	NM_001276351.1	NP_001263280.1	Q5JVX7	CA141_HUMAN	chromosome 1 open reading frame 141	143										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TTCATCTGTGGAGATTTTTTT	0.368000													4	16					0	0	1	0	0
COL19A1	1310	broad.mit.edu	37	6	70637811	70637811	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:70637811C>T	ENST00000322773.4	+	5	379	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	93	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging	p.P93S(1)		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						TAAGATATTTCCCAAAGGCCT	0.413000													10	99					0	0	1	0	0
DCDC1	341019	broad.mit.edu	37	11	31312231	31312231	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:31312231C>T	ENST00000597505.1	-	5	922	c.923G>A	c.(922-924)gGg>gAg	p.G308E	DCDC1_ENST00000452803.1_Missense_Mutation_p.G308E			P59894	DCDC1_HUMAN	doublecortin domain containing 1	308					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					AATCTCATGCCCATCCTGCCC	0.348000													8	64					0	0	1	0	0
ZNF586	54807	broad.mit.edu	37	19	58290786	58290786	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:58290786C>T	ENST00000391702.3	+	4	1069	c.702C>T	c.(700-702)ctC>ctT	p.L234L	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000396150.4_3'UTR|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000396154.2_Silent_p.L277L	NM_001204814.1	NP_001191743.1	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	277					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)		GCTCTTCACTCTTGCAGCATC	0.433000													9	89					0	0	1	0	0
CPA1	1357	broad.mit.edu	37	7	130021677	130021677	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:130021677C>T	ENST00000011292.3	+	3	504	c.354C>T	c.(352-354)aaC>aaT	p.N118N	CPA1_ENST00000484324.1_Silent_p.N30N	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	118					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ACACTTTTAACTACGCCACCT	0.642000											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	46					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170002370	170002370	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:170002370C>T	ENST00000263816.3	-	70	13160	c.12875G>A	c.(12874-12876)gGa>gAa	p.G4292E		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4292					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			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)	CCATACTTCTCCCTTTTCCTT	0.408000													11	74					0	0	1	0	0
PRSS1	5644	broad.mit.edu	37	7	142457353	142457353	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:142457353C>T	ENST00000486171.1	+	1	35	c.18C>T	c.(16-18)atC>atT	p.I6I	PRSS1_ENST00000311737.7_Silent_p.I6I			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	6					digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			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)			CACTCCTGATCCTTACCTTTG	0.562000													15	115					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179429054	179429054	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179429054C>T	ENST00000589042.1	-	326	82029	c.81805G>A	c.(81805-81807)Gaa>Aaa	p.E27269K	TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E18329K|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E18396K|TTN_ENST00000342992.6_Missense_Mutation_p.E24701K|TTN_ENST00000460472.2_Missense_Mutation_p.E18204K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E25628K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25628	Fibronectin type-III 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCATCAATTTCATCTCTTGCA	0.398000													31	127					0	0	1	0	0
SSTR5	6755	broad.mit.edu	37	16	1129110	1129110	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:1129110A>G	ENST00000293897.4	+	1	330	c.242A>G	c.(241-243)aAc>aGc	p.N81S	SSTR5_ENST00000562758.1_Missense_Mutation_p.N81S|SSTR5_ENST00000397547.2_Missense_Mutation_p.N81S	NM_001053.3	NP_001044.1	P35346	SSR5_HUMAN	somatostatin receptor 5	81					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.N81S(1)		endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	TACATTCTCAACCTGGCAGTG	0.647000													6	47					0	0	1	0	0
SCRN1	9805	broad.mit.edu	37	7	29980367	29980367	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:29980367C>T	ENST00000426154.1	-	5	846	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	SCRN1_ENST00000409497.1_Missense_Mutation_p.E224K|SCRN1_ENST00000416113.2_Intron|SCRN1_ENST00000242059.5_Missense_Mutation_p.E224K	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	224					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						GAAAAGACTTCGGAAAAATTG	0.498000													36	114					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16860003	16860003	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:16860003G>A	ENST00000524140.2	+	6	968	c.550G>A	c.(550-552)Gga>Aga	p.G184R	NWD1_ENST00000523826.1_5'UTR|NWD1_ENST00000339803.6_Missense_Mutation_p.G49R|NWD1_ENST00000379808.3_Missense_Mutation_p.G184R|NWD1_ENST00000552788.1_Missense_Mutation_p.G184R|NWD1_ENST00000549814.1_Missense_Mutation_p.G184R	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	184							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						CCGGGAACAGGGAGCCACCGT	0.572000													19	84					0	0	1	0	0
NYAP1	222950	broad.mit.edu	37	7	100084731	100084731	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:100084731G>A	ENST00000423930.1	+	3	515	c.356G>A	c.(355-357)cGg>cAg	p.R119Q	NYAP1_ENST00000300179.2_Missense_Mutation_p.R119Q|NYAP1_ENST00000454988.1_Missense_Mutation_p.R62Q			Q6ZVC0	CG051_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	119																	GCCAAGCCCCGGAGACACCCC	0.682000													11	34					0	0	1	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15437502	15437502	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:15437502C>T	ENST00000295297.4	+	2	415	c.156C>T	c.(154-156)ccC>ccT	p.P52P	C1QTNF7_ENST00000429690.1_Silent_p.P45P|C1QTNF7_ENST00000444304.2_Silent_p.P45P	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	45	Collagen-like.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						CTCCAGGGCCCCCTGGAGCAA	0.567000													7	63					0	0	1	0	0
MTTP	4547	broad.mit.edu	37	4	100512909	100512909	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:100512909G>A	ENST00000457717.1	+	7	976	c.720G>A	c.(718-720)ctG>ctA	p.L240L	MTTP_ENST00000265517.5_Silent_p.L240L|MTTP_ENST00000511045.1_Silent_p.L267L	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	240	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	ATTTTGGACTGAATTTCCTAC	0.318000													3	26					0	0	1	0	0
MIIP	60672	broad.mit.edu	37	1	12082292	12082292	+	Silent	SNP	T	T	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:12082292T>G	ENST00000235332.4	+	3	424	c.255T>G	c.(253-255)cgT>cgG	p.R85R	MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Silent_p.R85R	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	85										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						GGGACCTCCGTGATGTGGCCA	0.677000													8	72					0	0	1	0	0
RASAL1	8437	broad.mit.edu	37	12	113553050	113553050	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:113553050G>A	ENST00000546530.1	-	12	1308	c.1023C>T	c.(1021-1023)ttC>ttT	p.F341F	RASAL1_ENST00000261729.5_Silent_p.F341F|RASAL1_ENST00000548055.1_Silent_p.F341F|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Silent_p.F341F	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	341	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			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						AGTTAGAACGGAAGAGGGTGT	0.577000													28	160					0	0	1	0	0
MTHFD2P1	100287639	broad.mit.edu	37	3	95374389	95374389	+	RNA	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:95374389G>A	ENST00000494840.1	-	0	1472					NR_077228.1																						TTCATTACAGGAAAGCCATCA	0.443000													8	86					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43689022	43689022	+	Silent	SNP	C	C	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:43689022C>A	ENST00000404580.1	-	2	430	c.342G>T	c.(340-342)cgG>cgT	p.R114R	PSG5_ENST00000407356.1_Silent_p.R114R|PSG5_ENST00000407568.1_Silent_p.R114R|PSG5_ENST00000599812.1_Silent_p.R114R|PSG5_ENST00000342951.6_Silent_p.R114R|PSG5_ENST00000366175.3_Silent_p.R114R|PSG5_ENST00000401992.1_5'UTR			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	114	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				CTGCGTCTTCCCGGGTGACAT	0.438000													47	478					1.23713e-20	1.26301e-20	1	1	0
PNLDC1	154197	broad.mit.edu	37	6	160230149	160230149	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:160230149G>A	ENST00000275275.5	+	9	880	c.709G>A	c.(709-711)Ggt>Agt	p.G237S	PNLDC1_ENST00000392167.3_Missense_Mutation_p.G248S	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	237						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTCAGCAAGGGGTTTTTCTGT	0.418000													7	67					0	0	1	0	0
GBP2	2634	broad.mit.edu	37	1	89583323	89583323	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:89583323C>T	ENST00000370466.3	-	5	830	c.562G>A	c.(562-564)Gaa>Aaa	p.E188K	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	188					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)		CCATCTACTTCCAGTTCCAGG	0.438000													11	74					0	0	1	0	0
EMG1	10436	broad.mit.edu	37	12	7084302	7084302	+	RNA	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:7084302C>T	ENST00000546220.1	+	0	493				U47924.28_ENST00000261406.6_lincRNA|U47924.19_ENST00000564245.1_RNA			Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										CCCCCAGAAGCTTTTGAAGGT	0.433000													11	59					0	0	1	0	0
ANKRD26	22852	broad.mit.edu	37	10	27301860	27301860	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:27301860G>A	ENST00000376087.4	-	32	5069	c.4904C>T	c.(4903-4905)aCc>aTc	p.T1635I	ANKRD26_ENST00000376070.3_Missense_Mutation_p.T1192I|ANKRD26_ENST00000436985.2_Missense_Mutation_p.T1651I	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1634						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGGATTTGAGGTAGAGATCAC	0.373000													5	88					0	0	1	0	0
SLC39A12	221074	broad.mit.edu	37	10	18266935	18266935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:18266935C>T	ENST00000377369.2	+	5	1129	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	SLC39A12_ENST00000377371.3_Nonsense_Mutation_p.Q286*|SLC39A12_ENST00000377374.4_Nonsense_Mutation_p.Q286*|SLC39A12_ENST00000539911.1_Nonsense_Mutation_p.Q152*	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	286					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.Q286*(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						AACCCATGATCAGGACTATTC	0.373000													7	111					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189873781	189873781	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:189873781T>A	ENST00000304636.3	+	48	3827	c.3657T>A	c.(3655-3657)taT>taA	p.Y1219*	COL3A1_ENST00000317840.5_Nonsense_Mutation_p.Y916*	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1219					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)	TTGCCCCGTATTATGGAGATG	0.488000													10	143					0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20097937	20097937	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:20097937C>A	ENST00000294543.6	-	5	459	c.218G>T	c.(217-219)tGg>tTg	p.W73L	TMCO4_ENST00000375127.1_Missense_Mutation_p.W73L|TMCO4_ENST00000375122.2_Missense_Mutation_p.W73L	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	73						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CAACTCCAGCCACTGCACCAG	0.537000													6	64					0.00116845	0.00117729	1	1	0
DNAH5	1767	broad.mit.edu	37	5	13769675	13769675	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:13769675C>T	ENST00000265104.4	-	57	9759	c.9655G>A	c.(9655-9657)Gcc>Acc	p.A3219T	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3219	Stalk (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)					TTACTCAAGGCTGCAACAGAC	0.433000									Kartagener syndrome				21	162					0	0	1	0	0
PCDHB15	56121	broad.mit.edu	37	5	140626147	140626147	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140626147C>T	ENST00000231173.3	+	1	1001	c.1001C>T	c.(1000-1002)tCt>tTt	p.S334F		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		334	Cadherin 3.				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)			TGCTCTGTCTCTGTTAAGGTG	0.423000													18	146					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193210711	193210711	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:193210711C>T	ENST00000342695.4	-	5	850	c.528G>A	c.(526-528)gaG>gaA	p.E176E	ATP13A4_ENST00000295548.3_Silent_p.E176E|ATP13A4_ENST00000392443.3_Silent_p.E176E	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	176					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)		GGTACCTAATCTCCTGTTCTT	0.318000													4	55					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				8	90					0	0	1	0	0
LAT2	7462	broad.mit.edu	37	7	73634097	73634097	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:73634097C>T	ENST00000460943.1	+	5	1047	c.158C>T	c.(157-159)aCg>aTg	p.T53M	LAT2_ENST00000344995.5_Missense_Mutation_p.T53M|LAT2_ENST00000275635.7_Missense_Mutation_p.T53M|LAT2_ENST00000398475.1_Missense_Mutation_p.T53M	NM_032464.2	NP_115853.2	Q9GZY6	NTAL_HUMAN	linker for activation of T cells family, member 2	53					B cell activation|B cell receptor signaling pathway|calcium-mediated signaling|mast cell degranulation	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6						CAGAGCTTTACGGGGTCCCGG	0.607000													9	222					0	0	1	0	0
IGKV1D-8	28904	broad.mit.edu	37	2	90260159	90260159	+	RNA	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:90260159G>A	ENST00000471857.1	+	0	443																											CAGTGGCAGTGGATCTGGGAC	0.468000													43	215					0	0	1	0	0
GPC5	2262	broad.mit.edu	37	13	92797125	92797125	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr13:92797125C>T	ENST00000377067.3	+	7	1816	c.1444C>T	c.(1444-1446)Ctt>Ttt	p.L482F		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	482						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GTGGGAACTTCTTCAGCTGGG	0.443000													5	72					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51095563	51095563	+	Missense_Mutation	SNP	C	C	T	rs145913196		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:51095563C>T	ENST00000395542.2	-	12	3660	c.3476G>A	c.(3475-3477)gGa>gAa	p.G1159E	COBL_ENST00000265136.7_Missense_Mutation_p.G1077E			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1077	WH2 2.									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)					TGTTTCATTTCCATCTGTAGA	0.512000													11	147					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													7	61					0	0	1	0	0
SH3PXD2A	9644	broad.mit.edu	37	10	105372776	105372776	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:105372776G>A	ENST00000369774.4	-	12	1368	c.1092C>T	c.(1090-1092)gcC>gcT	p.A364A	SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Silent_p.A336A|SH3PXD2A_ENST00000538130.1_Silent_p.A199A|SH3PXD2A_ENST00000427662.2_Silent_p.A226A|SH3PXD2A_ENST00000540321.1_Silent_p.A231A			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	364					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CCTCGCCTTCGGCTGGTGGAG	0.587000													9	97					0	0	1	0	0
SLC24A1	9187	broad.mit.edu	37	15	65917776	65917776	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:65917776G>A	ENST00000261892.6	+	2	1645	c.1358G>A	c.(1357-1359)gGc>gAc	p.G453D	SLC24A1_ENST00000544319.2_Missense_Mutation_p.G453D|SLC24A1_ENST00000546330.1_Missense_Mutation_p.G453D|SLC24A1_ENST00000399033.4_Missense_Mutation_p.G453D|SLC24A1_ENST00000339868.6_Missense_Mutation_p.G453D|SLC24A1_ENST00000537259.1_Missense_Mutation_p.G453D	NM_001254740.1|NM_004727.2	NP_001241669.1|NP_004718.1	O60721	NCKX1_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 1	453					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CGGCGGCAGGGCTGGGTGGTC	0.587000													22	138					0	0	1	0	0
GCKR	2646	broad.mit.edu	37	2	27731106	27731106	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:27731106G>A	ENST00000264717.2	+	16	1473	c.1410G>A	c.(1408-1410)ggG>ggA	p.G470G	GCKR_ENST00000424318.2_Silent_p.G280G	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	470	SIS 2.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					AATATGAAGGGAACTTCATCC	0.493000													11	94					0	0	1	0	0
VARS2	57176	broad.mit.edu	37	6	30889745	30889745	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:30889745C>T	ENST00000321897.5	+	18	2411	c.1779C>T	c.(1777-1779)ccC>ccT	p.P593P	VARS2_ENST00000541562.1_Silent_p.P623P|VARS2_ENST00000476162.1_Intron|VARS2_ENST00000542001.1_Silent_p.P453P|VARS2_ENST00000416670.2_Silent_p.P593P			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	593					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						CCCTGTTCCCCTTTTCTGCCC	0.547000													12	146					0	0	1	0	0
PRDM11	56981	broad.mit.edu	37	11	45204437	45204437	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:45204437C>T	ENST00000263765.4	+	5	600	c.351C>T	c.(349-351)ttC>ttT	p.F117F	PRDM11_ENST00000530656.1_Silent_p.F117F|PRDM11_ENST00000424263.2_Silent_p.F83F			Q9NQV5	PRD11_HUMAN	PR domain containing 11	117										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AGGAGTACTTCGTGGATGAAT	0.627000													5	98					0	0	1	0	0
CTDP1	9150	broad.mit.edu	37	18	77477655	77477655	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:77477655A>T	ENST00000299543.7	+	9	2336	c.2189A>T	c.(2188-2190)gAc>gTc	p.D730V	CTDP1_ENST00000075430.7_Missense_Mutation_p.D730V	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	730					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CCGCTCAGGGACGATCACACC	0.642000													5	70					0	0	1	0	0
ANKIB1	54467	broad.mit.edu	37	7	92019357	92019357	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:92019357T>C	ENST00000265742.3	+	15	2355	c.1979T>C	c.(1978-1980)cTc>cCc	p.L660P		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	660							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CGGCGCATTCTCAAGTGTTCT	0.333000													12	96					0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247587769	247587769	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:247587769C>T	ENST00000366497.2	+	4	1804	c.1024C>T	c.(1024-1026)Ccc>Tcc	p.P342S	NLRP3_ENST00000336119.3_Missense_Mutation_p.P342S|NLRP3_ENST00000366496.2_Missense_Mutation_p.P342S|NLRP3_ENST00000391828.3_Missense_Mutation_p.P342S|NLRP3_ENST00000391827.2_Missense_Mutation_p.P342S|NLRP3_ENST00000348069.2_Missense_Mutation_p.P342S|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	342	NACHT.				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)			GAAGCTGCTTCCCGAGGCCTC	0.587000													27	113					0	0	1	0	0
HSD17B6	8630	broad.mit.edu	37	12	57175790	57175790	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:57175790C>T	ENST00000554643.1	+	4	695	c.346C>T	c.(346-348)Ctt>Ttt	p.L116F	HSD17B6_ENST00000555805.1_Missense_Mutation_p.L116F|HSD17B6_ENST00000554150.1_Missense_Mutation_p.L116F|HSD17B6_ENST00000322165.1_Missense_Mutation_p.L116F|HSD17B6_ENST00000555159.1_Missense_Mutation_p.L116F			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	116					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)	TGCAGGCATTCTTACACCAAT	0.413000													21	97					0	0	1	0	0
ITGA11	22801	broad.mit.edu	37	15	68606139	68606139	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:68606139C>T	ENST00000423218.2	-	23	2955	c.2860G>A	c.(2860-2862)Gag>Aag	p.E954K	ITGA11_ENST00000315757.7_Missense_Mutation_p.E954K			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	954					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	ACGTCAGCCTCGTATTTGAGG	0.637000													5	21					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370170	86370170	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr13:86370170C>T	ENST00000400286.2	-	2	1072	c.474G>A	c.(472-474)aaG>aaA	p.K158K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	158						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GTCTGTTGAGCTTGCTAAAGG	0.373000													10	170					0	0	1	0	0
KSR2	283455	broad.mit.edu	37	12	117914343	117914343	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:117914343G>A	ENST00000425217.1	-	17	2475	c.2421C>T	c.(2419-2421)atC>atT	p.I807I	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000339824.5_Silent_p.I836I	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	836	Protein kinase.				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)					GCTGGCGGATGATCTCTGGTG	0.587000													4	17					0	0	1	0	0
SPATA16	83893	broad.mit.edu	37	3	172835519	172835519	+	Translation_Start_Site	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:172835519C>T	ENST00000351008.3	-	2	186	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	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													17	137					0	0	1	0	0
PSG7	5676	broad.mit.edu	37	19	43428899	43428899	+	RNA	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:43428899G>A	ENST00000406070.2	-	0	1417					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				ttctggaacagagtgggtctt	0.418000													13	68					0	0	1	0	0
SHCBP1L	81626	broad.mit.edu	37	1	182874688	182874688	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:182874688G>A	ENST00000367547.3	-	7	1515	c.1279C>T	c.(1279-1281)Cca>Tca	p.P427S	SHCBP1L_ENST00000488956.1_5'UTR|SHCBP1L_ENST00000423786.1_Missense_Mutation_p.P308S	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	499										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TATTCTCCTGGAAAAATTATT	0.343000													12	55					0	0	1	0	0
PBRM1	55193	broad.mit.edu	37	3	52643874	52643874	+	Silent	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:52643874A>G	ENST00000356770.4	-	15	1928	c.1926T>C	c.(1924-1926)gaT>gaC	p.D642D	PBRM1_ENST00000410007.1_Silent_p.D674D|PBRM1_ENST00000296302.7_Silent_p.D674D|PBRM1_ENST00000394830.3_Silent_p.D674D|PBRM1_ENST00000409057.1_Silent_p.D674D|PBRM1_ENST00000409767.1_Silent_p.D689D|PBRM1_ENST00000409114.3_Silent_p.D689D|PBRM1_ENST00000337303.4_Silent_p.D674D			Q86U86	PB1_HUMAN	polybromo 1	674					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GACCCCTCTTATCAGTATAGT	0.418000			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""								20	151					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2224405	2224405	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:2224405G>A	ENST00000399655.1	+	2	330	c.65G>A	c.(64-66)aGc>aAc	p.S22N	CACNA1C_ENST00000399649.1_Missense_Mutation_p.S22N|CACNA1C_ENST00000399603.1_Missense_Mutation_p.S22N|CACNA1C_ENST00000399638.1_Missense_Mutation_p.S22N|CACNA1C_ENST00000399597.1_Missense_Mutation_p.S22N|CACNA1C_ENST00000399644.1_Missense_Mutation_p.S22N|CACNA1C_ENST00000399617.1_Missense_Mutation_p.S22N|CACNA1C_ENST00000399634.1_Missense_Mutation_p.S22N|CACNA1C_ENST00000399591.1_Missense_Mutation_p.S22N|CACNA1C_ENST00000399601.1_Missense_Mutation_p.S22N|CACNA1C_ENST00000406454.3_Missense_Mutation_p.S22N|CACNA1C_ENST00000399621.1_Missense_Mutation_p.S22N|CACNA1C_ENST00000399637.1_Missense_Mutation_p.S22N|CACNA1C_ENST00000480911.1_Missense_Mutation_p.S22N|CACNA1C_ENST00000344100.3_Missense_Mutation_p.S22N|CACNA1C_ENST00000399629.1_Missense_Mutation_p.S22N|CACNA1C_ENST00000335762.5_Missense_Mutation_p.S22N|CACNA1C_ENST00000399606.1_Missense_Mutation_p.S22N|CACNA1C_ENST00000327702.7_Missense_Mutation_p.S22N|CACNA1C_ENST00000399641.1_Missense_Mutation_p.S22N|CACNA1C_ENST00000347598.4_Missense_Mutation_p.S22N|CACNA1C_ENST00000402845.3_Missense_Mutation_p.S22N|CACNA1C_ENST00000399595.1_Missense_Mutation_p.S22N	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	22					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AACTATGGGAGCCCACGCCCC	0.597000													4	9					0	0	1	0	0
NCKAP5	344148	broad.mit.edu	37	2	133539545	133539545	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:133539545C>T	ENST00000409261.1	-	14	5212	c.4839G>A	c.(4837-4839)acG>acA	p.T1613T	NCKAP5_ENST00000473859.1_5'UTR|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Silent_p.T1613T	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1613							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGGTGTCTTTCGTTGAACATG	0.438000													18	110					0	0	1	0	0
MAP3K5	4217	broad.mit.edu	37	6	136913734	136913734	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:136913734G>A	ENST00000359015.4	-	22	3257	c.2897C>T	c.(2896-2898)tCc>tTc	p.S966F	MAP3K5_ENST00000355845.4_Missense_Mutation_p.S213F	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	966					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TACCGGCAAGGATATACTCCT	0.463000													5	82					0	0	1	0	0
RP1L1	94137	broad.mit.edu	37	8	10474094	10474094	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:10474094C>T	ENST00000382483.3	-	3	836	c.613G>A	c.(613-615)Gac>Aac	p.D205N		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	205					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGCAGCGAGTCCACCTGAGGG	0.657000													7	35					0	0	1	0	0
ZNF99	7652	broad.mit.edu	37	19	22940045	22940045	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:22940045C>T	ENST00000397104.3	-	6	2285	c.2286G>A	c.(2284-2286)agG>agA	p.R762R						zinc finger protein 99											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)				TCTTATGTTTCCTAAGGGTTG	0.358000													6	57					0	0	1	0	0
LAMB2	3913	broad.mit.edu	37	3	49162254	49162254	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:49162254G>A	ENST00000418109.1	-	22	3153	c.2989C>T	c.(2989-2991)Cct>Tct	p.P997S	LAMB2_ENST00000305544.4_Missense_Mutation_p.P997S|LAMB2_ENST00000464891.1_5'UTR	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	997	Laminin EGF-like 10.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGGCATCAGGATCCATTGGG	0.612000													6	72					0	0	1	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841699	8841699	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:8841699C>T	ENST00000324060.2	+	1	384	c.309C>T	c.(307-309)ttC>ttT	p.F103F		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						AAATATTCTTCCTCACACTGA	0.532000													15	95					0	0	1	0	0
ADAM18	8749	broad.mit.edu	37	8	39564382	39564382	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:39564382C>T	ENST00000265707.5	+	18	2021	c.1976C>T	c.(1975-1977)tCc>tTc	p.S659F	ADAM18_ENST00000379866.1_Missense_Mutation_p.S635F|ADAM18_ENST00000541111.1_Missense_Mutation_p.S73F|ADAM18_ENST00000523755.1_3'UTR	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	659					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)			CAGTTTGGTTCCCCAGGGGGT	0.318000													14	57					0	0	1	0	0
SUGP1	57794	broad.mit.edu	37	19	19414630	19414630	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:19414630G>A	ENST00000247001.5	-	5	912	c.565C>T	c.(565-567)Cgg>Tgg	p.R189W	SUGP1_ENST00000585763.1_Intron	NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	189					nuclear mRNA splicing, via spliceosome	nucleoplasm|spliceosomal complex	RNA binding			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						ATCACTTTCCGAGTCTCGGCT	0.517000													42	306					0	0	1	0	0
KY	339855	broad.mit.edu	37	3	134327533	134327533	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:134327533C>T	ENST00000508956.1	-	9	1042	c.985G>A	c.(985-987)Ggg>Agg	p.G329R	KY_ENST00000423778.2_Missense_Mutation_p.G350R|KY_ENST00000503669.1_Intron			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	350						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CTCAGCATCCCTTTGTTGTAG	0.507000													14	108					0	0	1	0	0
CCL26	10344	broad.mit.edu	37	7	75399049	75399049	+	Nonsense_Mutation	SNP	T	T	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:75399049T>A	ENST00000394905.2	-	4	504	c.247A>T	c.(247-249)Aaa>Taa	p.K83*	CCL26_ENST00000005180.4_Nonsense_Mutation_p.K83*	NM_006072.4	NP_006063.1	Q9Y258	CCL26_HUMAN	chemokine (C-C motif) ligand 26	83					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			lung(3)	3						GAAATGTATTTTTGCACCCAT	0.438000													6	64					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35922942	35922942	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:35922942A>G	ENST00000490799.1	-	17	2572	c.2219T>C	c.(2218-2220)gTc>gCc	p.V740A	SLC26A8_ENST00000355574.2_Missense_Mutation_p.V740A|SLC26A8_ENST00000394602.2_Missense_Mutation_p.V635A	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	740	Interaction with RACGAP1.|STAS.				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						TCTTAATACGACTAACCCCCG	0.512000													7	112					0	0	1	0	0
HERC1	8925	broad.mit.edu	37	15	63970504	63970504	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:63970504T>A	ENST00000443617.2	-	37	6697	c.6610A>T	c.(6610-6612)Att>Ttt	p.I2204F	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2204					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGACTACAAATAGGGTCTCCT	0.443000													4	24					0	0	1	0	0
STK31	56164	broad.mit.edu	37	7	23825160	23825160	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:23825160G>A	ENST00000354639.3	+	18	2607	c.2143G>A	c.(2143-2145)Gaa>Aaa	p.E715K	STK31_ENST00000428484.1_Missense_Mutation_p.E715K|STK31_ENST00000355870.3_Missense_Mutation_p.E738K|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.E738K	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	738	Protein kinase.			Y -> C (in Ref. 2; AAK17193).			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						GCCCATGAAGGAACTTAGCAG	0.418000													13	156					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17837156	17837156	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:17837156G>A	ENST00000378814.5	-	11	1107	c.1108C>T	c.(1108-1110)Ctg>Ttg	p.L370L	KIF13A_ENST00000259711.6_Silent_p.L370L|KIF13A_ENST00000378826.2_Silent_p.L370L|KIF13A_ENST00000378816.5_Silent_p.L370L|KIF13A_ENST00000378843.2_Silent_p.L370L	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	370					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein 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)			TCCTCCCGCAGTTCTCGGATC	0.512000													14	317					0	0	1	0	0
ADAM19	8728	broad.mit.edu	37	5	156915302	156915302	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:156915302G>A	ENST00000257527.4	-	21	2599	c.2521C>T	c.(2521-2523)Ccc>Tcc	p.P841S	ADAM19_ENST00000430702.2_Missense_Mutation_p.P574S|ADAM19_ENST00000394020.1_Missense_Mutation_p.P843S|ADAM19_ENST00000517905.1_Missense_Mutation_p.P841S	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	841					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|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)			GGTGCGGGGGGAATTGGCCGG	0.562000													9	148					0	0	1	0	0
CRYZ	1429	broad.mit.edu	37	1	75188920	75188920	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:75188920G>A	ENST00000417775.1	-	4	650	c.146C>T	c.(145-147)cCc>cTc	p.P49L	CRYZ_ENST00000340866.5_Missense_Mutation_p.P49L|CRYZ_ENST00000370872.3_5'UTR|CRYZ_ENST00000370871.3_Missense_Mutation_p.P49L	NM_001130042.1	NP_001123514.1	Q08257	QOR_HUMAN	crystallin, zeta (quinone reductase)	49					protein homotetramerization|visual perception|xenobiotic catabolic process	cytosol|Golgi apparatus	mRNA 3'-UTR binding|NADPH binding|NADPH:quinone reductase activity|zinc ion binding			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)	10					Dicumarol(DB00266)	TGTCTCCACGGGGTTGACACC	0.423000													9	117					0	0	1	0	0
PSG5	5673	broad.mit.edu	37	19	43689023	43689023	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:43689023C>T	ENST00000404580.1	-	2	429	c.341G>A	c.(340-342)cGg>cAg	p.R114Q	PSG5_ENST00000407356.1_Missense_Mutation_p.R114Q|PSG5_ENST00000407568.1_Missense_Mutation_p.R114Q|PSG5_ENST00000599812.1_Missense_Mutation_p.R114Q|PSG5_ENST00000342951.6_Missense_Mutation_p.R114Q|PSG5_ENST00000366175.3_Missense_Mutation_p.R114Q|PSG5_ENST00000401992.1_5'UTR			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	114	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TGCGTCTTCCCGGGTGACATT	0.433000													47	478					0	0	1	0	0
BRCA1	672	broad.mit.edu	37	17	41245117	41245117	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:41245117G>A	ENST00000309486.4	-	9	2570	c.1543C>T	c.(1543-1545)Ccc>Tcc	p.P515S	BRCA1_ENST00000471181.2_Missense_Mutation_p.P811S|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.P811S|BRCA1_ENST00000493795.1_Missense_Mutation_p.P764S|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.P811S|BRCA1_ENST00000354071.3_Missense_Mutation_p.P811S|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000352993.3_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	811					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGTCCCTTGGGGTTTTCAAAT	0.413000			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			21	307					0	0	1	0	0
MFSD11	79157	broad.mit.edu	37	17	74774296	74774296	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:74774296C>T	ENST00000588460.1	+	13	3254	c.1212C>T	c.(1210-1212)ttC>ttT	p.F404F	MFSD11_ENST00000590070.1_3'UTR|MFSD11_ENST00000355954.3_Silent_p.F352F|MFSD11_ENST00000593181.1_Silent_p.F352F|MFSD11_ENST00000590514.1_Silent_p.F404F|MFSD11_ENST00000586622.1_Silent_p.F404F|MFSD11_ENST00000336509.4_Silent_p.F404F	NM_001242534.1	NP_001229463.1	O43934	MFS11_HUMAN	major facilitator superfamily domain containing 11	404						integral to membrane		p.F404L(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)	17						TGGCATTTTTCTACAGCAACT	0.498000													6	71					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75853084	75853084	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:75853084C>T	ENST00000322507.8	-	26	5020	c.4711G>A	c.(4711-4713)Gat>Aat	p.D1571N	COL12A1_ENST00000345356.6_Missense_Mutation_p.D407N|COL12A1_ENST00000416123.2_Missense_Mutation_p.D1571N|COL12A1_ENST00000483888.2_Missense_Mutation_p.D1571N	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1571	Fibronectin type-III 11.				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						AGTTTCAGATCCTGAGGTCTG	0.428000													4	64					0	0	1	0	0
MDN1	23195	broad.mit.edu	37	6	90408708	90408708	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:90408708G>A	ENST00000369393.3	-	59	9159	c.9044C>T	c.(9043-9045)tCc>tTc	p.S3015F	MDN1_ENST00000428876.1_Missense_Mutation_p.S3015F			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3015					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)		CATAAACATGGAATTAAATAA	0.413000													5	65					0	0	1	0	0
SYNPO	11346	broad.mit.edu	37	5	150028702	150028702	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:150028702A>C	ENST00000394243.1	+	3	1971	c.1597A>C	c.(1597-1599)Atg>Ctg	p.M533L	SYNPO_ENST00000522122.1_Missense_Mutation_p.M533L|SYNPO_ENST00000519664.1_Missense_Mutation_p.M289L|SYNPO_ENST00000307662.4_Missense_Mutation_p.M289L	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	533					positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGACACATAATGTCCCGCAG	0.642000													7	54					0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7559397	7559397	+	Missense_Mutation	SNP	C	C	T	rs80190863		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:7559397C>T	ENST00000313599.3	-	5	875	c.818G>A	c.(817-819)gGg>gAg	p.G273E	CD163L1_ENST00000416109.2_Missense_Mutation_p.G283E|CD163L1_ENST00000396630.1_Missense_Mutation_p.G273E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	273	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTCTACTCTCCCCATACAGCG	0.458000													17	116					0	0	1	0	0
TEX35	84066	broad.mit.edu	37	1	178490357	178490357	+	Splice_Site	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:178490357G>A	ENST00000319416.2	+	8	656	c.543_splice	c.e8-1	p.E182_splice	TEX35_ENST00000258298.2_Splice_Site_p.E106_splice|TEX35_ENST00000367643.3_Splice_Site_p.E182_splice|TEX35_ENST00000367642.3_3'UTR|TEX35_ENST00000367641.3_3'UTR|TEX35_ENST00000367639.1_Splice_Site_p.E190_splice	NM_032126.4	NP_115502.2			testis expressed 35																		TCCTCTGCAGGAGAAATGTTT	0.483000													18	140					0	0	1	0	0
ACCSL	390110	broad.mit.edu	37	11	44074232	44074232	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:44074232C>T	ENST00000378832.1	+	6	849	c.793C>T	c.(793-795)Ccc>Tcc	p.P265S		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	265							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						GGTCCCTGCTCCCTTCTATGG	0.547000													11	270					0	0	1	0	0
MYRIP	25924	broad.mit.edu	37	3	40231804	40231804	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:40231804G>A	ENST00000302541.6	+	10	1857	c.1515G>A	c.(1513-1515)agG>agA	p.R505R	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000539167.1_Silent_p.R318R|MYRIP_ENST00000444716.1_Silent_p.R505R|MYRIP_ENST00000396217.3_Silent_p.R416R|MYRIP_ENST00000425621.1_Silent_p.R505R	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	505	Actin-binding.|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)		TGGCCAGCAGGGAGACCTCGG	0.647000													13	114					0	0	1	0	0
MBD5	55777	broad.mit.edu	37	2	149227553	149227553	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:149227553C>T	ENST00000407073.1	+	9	3038	c.2041C>T	c.(2041-2043)Cct>Tct	p.P681S	MBD5_ENST00000404807.1_Missense_Mutation_p.P681S	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	681						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TTCTGCAGTTCCTAAACCTGG	0.448000													16	114					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2877690	2877690	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:2877690C>T	ENST00000586426.1	+	4	818	c.731C>T	c.(730-732)tCc>tTc	p.S244F	ZNF556_ENST00000307635.2_Missense_Mutation_p.S245F			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S245F(1)		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)		TGTCCCAAATCCTTTCGCGCA	0.507000													6	61					0	0	1	0	0
L1CAM	3897	broad.mit.edu	37	X	153128221	153128221	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:153128221G>A	ENST00000370060.1	-	29	3860	c.3671C>T	c.(3670-3672)tCg>tTg	p.S1224L	L1CAM_ENST00000361981.3_Missense_Mutation_p.S1215L|L1CAM_ENST00000370057.3_Missense_Mutation_p.S1224L|L1CAM_ENST00000361699.4_Missense_Mutation_p.S1220L|L1CAM_ENST00000538883.1_Missense_Mutation_p.S1222L|L1CAM_ENST00000543994.1_Missense_Mutation_p.S1226L|L1CAM_ENST00000370055.1_Missense_Mutation_p.S1215L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1224			S -> L (in HSAS).		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)					GCCAATGAACGAACCATCCTC	0.607000													5	53					0	0	1	0	0
SPATA31D3	389762	broad.mit.edu	37	9	84564704	84564704	+	RNA	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:84564704G>A	ENST00000585776.1	-	0	942				SPATA31D3_ENST00000334208.4_RNA																							ACAGATCATAGACAAGGACAG	0.483000													3	27					0	0	1	0	0
TRIM58	25893	broad.mit.edu	37	1	248039441	248039441	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:248039441G>A	ENST00000366481.3	+	6	1159	c.1111G>A	c.(1111-1113)Ggg>Agg	p.G371R	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	371	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	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)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCCAAGAAAGGGGGAAACCAC	0.557000													25	111					0	0	1	0	0
AKAP12	9590	broad.mit.edu	37	6	151674031	151674031	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:151674031G>A	ENST00000402676.2	+	4	4745	c.4505G>A	c.(4504-4506)gGa>gAa	p.G1502E	AKAP12_ENST00000359755.5_Missense_Mutation_p.G1397E|AKAP12_ENST00000354675.6_Missense_Mutation_p.G1404E|AKAP12_ENST00000253332.1_Missense_Mutation_p.G1502E	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1502					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		GACCTGGAAGGAGAGAAAACC	0.498000													7	110					0	0	1	0	0
TDRD5	163589	broad.mit.edu	37	1	179620142	179620142	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:179620142C>T	ENST00000444136.1	+	12	2191	c.1941C>T	c.(1939-1941)ttC>ttT	p.F647F	TDRD5_ENST00000367614.1_Silent_p.F647F|TDRD5_ENST00000294848.8_Silent_p.F647F	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	647					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						ATGTCTATTTCCATCATGTCT	0.383000													14	119					0	0	1	0	0
BSND	7809	broad.mit.edu	37	1	55472814	55472814	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:55472814G>A	ENST00000371265.4	+	3	671	c.417G>A	c.(415-417)ccG>ccA	p.P139P		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	Bartter syndrome, infantile, with sensorineural deafness (Barttin)	139						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						TGGGGCAGCCGAAGCTGGGAA	0.602000													8	74					0	0	1	0	0
ZNF557	79230	broad.mit.edu	37	19	7083327	7083327	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:7083327G>A	ENST00000414706.1	+	8	1338	c.865G>A	c.(865-867)Gag>Aag	p.E289K	ZNF557_ENST00000439035.2_Missense_Mutation_p.E282K|ZNF557_ENST00000252840.6_Missense_Mutation_p.E289K	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		TCATACGGGGGAGGGTCATTA	0.453000													9	145					0	0	1	0	0
EP300	2033	broad.mit.edu	37	22	41574339	41574339	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:41574339T>A	ENST00000263253.7	+	31	7843	c.6624T>A	c.(6622-6624)caT>caA	p.H2208Q	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2208	Interaction with HTLV-1 Tax.|Interaction with NCOA2.				apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGGCCAACCATAACCAGTTCC	0.532000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				8	98					0	0	1	0	0
DGKQ	1609	broad.mit.edu	37	4	954842	954842	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:954842G>A	ENST00000273814.3	-	22	2795	c.2722C>T	c.(2722-2724)Cct>Tct	p.P908S		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	908					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding	p.P908A(1)		breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CATACCTTAGGGCCAGCAGCT	0.687000													5	44					0	0	1	0	0
CNTN1	1272	broad.mit.edu	37	12	41463834	41463834	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:41463834C>T	ENST00000551295.2	+	24	3171	c.3054C>T	c.(3052-3054)ttC>ttT	p.F1018F	CNTN1_ENST00000348761.2_Silent_p.F1007F|CNTN1_ENST00000347616.1_Silent_p.F1018F	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	1018					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane		p.F1018F(1)		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)				ACTTGGAATTCTGAATGTGTT	0.507000													4	58					0	0	1	0	0
PCDHB1	29930	broad.mit.edu	37	5	140431764	140431764	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140431764G>A	ENST00000306549.3	+	1	786	c.709G>A	c.(709-711)Gac>Aac	p.D237N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		237	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D237N(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGATGTCAACGACCACGTGCC	0.597000													4	47					0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55523103	55523103	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:55523103G>A	ENST00000302118.5	+	7	1386	c.1096G>A	c.(1096-1098)Gag>Aag	p.E366K	PCSK9_ENST00000543384.1_Missense_Mutation_p.E166K|PCSK9_ENST00000490692.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	366	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						TGCCCCAGGGGAGGACATCAT	0.612000													4	57					0	0	1	0	0
CSMD1	64478	broad.mit.edu	37	8	2820113	2820113	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:2820113C>T	ENST00000602557.1	-	62	10061	c.9506G>A	c.(9505-9507)gGg>gAg	p.G3169E	CSMD1_ENST00000537824.1_Missense_Mutation_p.G3168E|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2991E|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2992E|CSMD1_ENST00000520002.1_Missense_Mutation_p.G3169E|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2992E			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3169	Sushi 26.					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)		GAAACTTTTCCCACTAAGTCG	0.517000													5	35					0	0	1	0	0
PPAPDC1A	196051	broad.mit.edu	37	10	122334781	122334781	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:122334781C>T	ENST00000398250.1	+	6	936	c.584C>T	c.(583-585)tCc>tTc	p.S195F	PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.S195F|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.S132F|PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.S185F|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000496437.1_3'UTR	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	195	Phosphatase sequence motif III.				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)		ATTGCCCTGTCCCGCATGTGC	0.622000													9	76					0	0	1	0	0
APOBEC1	339	broad.mit.edu	37	12	7805371	7805371	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:7805371C>T	ENST00000229304.4	-	3	125	c.105G>A	c.(103-105)gaG>gaA	p.E35E		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	35					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GCAGACAGGCCTCTTTACGAA	0.458000													11	65					0	0	1	0	0
IGLV2-23	28813	broad.mit.edu	37	22	23040803	23040803	+	RNA	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:23040803C>T	ENST00000390306.2	+	0	413																											AATCGCTTCTCTGGCTCCAAG	0.532000													29	266					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641366	179641366	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179641366C>T	ENST00000589042.1	-	28	5449	c.5225G>A	c.(5224-5226)gGa>gAa	p.G1742E	TTN_ENST00000359218.5_Missense_Mutation_p.G1696E|TTN_ENST00000342175.6_Missense_Mutation_p.G1696E|TTN_ENST00000342992.6_Missense_Mutation_p.G1742E|TTN_ENST00000460472.2_Missense_Mutation_p.G1696E|TTN_ENST00000360870.5_Missense_Mutation_p.G1742E|TTN_ENST00000591111.1_Missense_Mutation_p.G1742E	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1494	Ig-like 8.						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)			AAGTGGCTTTCCATCATGGAG	0.488000													17	82					0	0	1	0	0
LILRA2	11027	broad.mit.edu	37	19	55086396	55086396	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:55086396C>T	ENST00000251377.3	+	5	684	c.551C>T	c.(550-552)cCc>cTc	p.P184L	LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.P184L|LILRA2_ENST00000391737.1_Missense_Mutation_p.P172L|LILRA2_ENST00000251376.3_Missense_Mutation_p.P184L|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TCCGTGGGCCCCGTGAGCCCG	0.577000													22	187					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160100050	160100050	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:160100050G>A	ENST00000361216.3	+	12	1709	c.1620G>A	c.(1618-1620)atG>atA	p.M540I	ATP1A2_ENST00000472488.1_3'UTR|ATP1A2_ENST00000392233.3_Missense_Mutation_p.M540I	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	540					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)			ATGCCTACATGGAGCTGGGGG	0.617000													25	99					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140726004	140726004	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140726004G>A	ENST00000253812.6	+	1	2404	c.2404G>A	c.(2404-2406)Gga>Aga	p.G802R	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAATGAAAGGAGATTCCAA	0.378000													17	105					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	126138177	126138177	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:126138177C>T	ENST00000299308.3	+	9	2166	c.2158C>T	c.(2158-2160)Cct>Tct	p.P720S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.P232S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	720						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)		CATTTACGATCCTAAGGATTA	0.403000													7	115					0	0	1	0	0
KIF13A	63971	broad.mit.edu	37	6	17837157	17837157	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:17837157T>A	ENST00000378814.5	-	11	1106	c.1107A>T	c.(1105-1107)gaA>gaT	p.E369D	KIF13A_ENST00000259711.6_Missense_Mutation_p.E369D|KIF13A_ENST00000378826.2_Missense_Mutation_p.E369D|KIF13A_ENST00000378816.5_Missense_Mutation_p.E369D|KIF13A_ENST00000378843.2_Missense_Mutation_p.E369D	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	369					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein 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)			CCTCCCGCAGTTCTCGGATCA	0.512000													14	322					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198721842	198721842	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:198721842G>A	ENST00000367376.2	+	31	3615	c.3444G>A	c.(3442-3444)caG>caA	p.Q1148Q	PTPRC_ENST00000352140.3_Silent_p.Q1100Q|PTPRC_ENST00000442510.2_Silent_p.Q1150Q|PTPRC_ENST00000348564.6_Silent_p.Q989Q|PTPRC_ENST00000594404.1_Silent_p.Q987Q	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1148	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	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						AACTTCCCCAGAAGAATTCCT	0.433000													5	61					0	0	1	0	0
ADAM21P1	145241	broad.mit.edu	37	14	70713553	70713553	+	RNA	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:70713553G>A	ENST00000530196.1	-	0	965					NR_003951.1																						AATCATTTAGGATCTGTTCTA	0.358000													6	107					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179474630	179474630	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179474630C>T	ENST00000589042.1	-	272	51744	c.51520G>A	c.(51520-51522)Gat>Aat	p.D17174N	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D8234N|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D8301N|TTN_ENST00000342992.6_Missense_Mutation_p.D14606N|TTN_ENST00000460472.2_Missense_Mutation_p.D8109N|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.D15533N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15533	Fibronectin type-III 24.						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)			CTCCCTCCATCATACAAAGGT	0.443000													30	331					0	0	1	0	0
TOP1	7150	broad.mit.edu	37	20	39750765	39750765	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:39750765A>G	ENST00000361337.2	+	20	2415	c.2165A>G	c.(2164-2166)aAt>aGt	p.N722S	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	722			N -> S (in CPT-resistant leukemia).		DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	TCCAAACTCAATTATCTGGAC	0.507000			T	NUP98	AML*								7	113					0	0	1	0	0
CYP46A1	10858	broad.mit.edu	37	14	100184455	100184455	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:100184455C>T	ENST00000554176.1	+	5	1179	c.513C>T	c.(511-513)atC>atT	p.I171I	CYP46A1_ENST00000261835.3_Silent_p.I324I|CYP46A1_ENST00000423126.2_Silent_p.I227I			Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	324					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				AGCCAGAGATCGTGGCAAGGT	0.607000													6	60					0	0	1	0	0
CDH20	28316	broad.mit.edu	37	18	59221466	59221466	+	Silent	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:59221466A>G	ENST00000262717.4	+	12	2342	c.1944A>G	c.(1942-1944)caA>caG	p.Q648Q	CDH20_ENST00000536675.2_Silent_p.Q648Q|CDH20_ENST00000538374.1_Silent_p.Q648Q			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	648					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACCGGAAACAACCATACATCA	0.572000													7	120					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25274959	25274959	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr13:25274959C>T	ENST00000218548.6	+	13	2131	c.1798C>T	c.(1798-1800)Ccg>Tcg	p.P600S	ATP12A_ENST00000381946.3_Missense_Mutation_p.P594S	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	594					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			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)	TATGAACTTTCCGACCTCCAA	0.488000													6	72					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103234200	103234200	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:103234200C>T	ENST00000553106.1	-	12	1765	c.1293G>A	c.(1291-1293)aaG>aaA	p.K431K	PAH_ENST00000307000.2_Silent_p.K426K	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	431					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CAGCCAAAATCTTAAGCTGCT	0.463000													13	90					0	0	1	0	0
KIAA2022	340533	broad.mit.edu	37	X	73963728	73963728	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:73963728T>G	ENST00000373468.1	-	3	1315	c.664A>C	c.(664-666)Aaa>Caa	p.K222Q	KIAA2022_ENST00000055682.5_Missense_Mutation_p.K222Q			Q5QGS0	K2022_HUMAN	KIAA2022	222					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase 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						ATGTCAGGTTTCTCAGTTTCT	0.458000													21	86					0	0	1	0	0
FGF18	8817	broad.mit.edu	37	5	170863198	170863198	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:170863198C>T	ENST00000274625.5	+	3	715	c.171C>T	c.(169-171)ctC>ctT	p.L57L		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	57					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGTACCAGCTCTACAGCCGGA	0.627000													8	23					0	0	1	0	0
ZNF318	24149	broad.mit.edu	37	6	43305569	43305569	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:43305569G>A	ENST00000361428.2	-	10	6244	c.6167C>T	c.(6166-6168)tCc>tTc	p.S2056F	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2056					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)			GGGATCGGAGGAATTACACCC	0.463000													8	80					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78213894	78213894	+	RNA	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:78213894G>A	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							CGAAGTGTCGGGCAGCACGTT	0.498000													12	140					0	0	1	0	0
DHX32	55760	broad.mit.edu	37	10	127548267	127548267	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:127548267G>A	ENST00000284690.3	-	3	1244	c.754C>T	c.(754-756)Caa>Taa	p.Q252*	DHX32_ENST00000284688.6_Nonsense_Mutation_p.Q252*	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	252						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GAATCCTTTTGAGCCTCACTA	0.408000													7	145					0	0	1	0	0
APEX2	27301	broad.mit.edu	37	X	55028746	55028746	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:55028746C>T	ENST00000374987.3	+	3	370	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L	APEX2_ENST00000471758.1_Intron	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	102					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding	p.L102M(1)		breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						CCTGAGTGGCCTGTTTGCCAC	0.562000								Other BER factors					5	38					0	0	1	0	0
ZFX	7543	broad.mit.edu	37	X	24197773	24197773	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:24197773G>A	ENST00000379177.1	+	6	959	c.532G>A	c.(532-534)Gaa>Aaa	p.E178K	ZFX_ENST00000304543.5_Missense_Mutation_p.E178K|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000338565.3_Missense_Mutation_p.E178K|ZFX_ENST00000379188.3_Missense_Mutation_p.E178K|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000540034.1_Missense_Mutation_p.E217K	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CGTAGTTTCAGAAGAAGTATT	0.463000													22	126					0	0	1	0	0
PEG3	5178	broad.mit.edu	37	19	57326874	57326874	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:57326874G>A	ENST00000326441.9	-	10	3299	c.2936C>T	c.(2935-2937)gCt>gTt	p.A979V	ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.A855V|PEG3_ENST00000593695.1_Missense_Mutation_p.A853V|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.A979V|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000221722.5_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	979					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGAGCTATGAGCAAAGCACTC	0.493000													10	132					0	0	1	0	0
ITGB8	3696	broad.mit.edu	37	7	20431099	20431099	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:20431099G>A	ENST00000222573.3	+	7	1718	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	ITGB8_ENST00000537992.1_Missense_Mutation_p.G210E	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	345	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						GCAGTTCAAGGAAAACAATTT	0.284000													7	26					0	0	1	0	0
IRAK3	11213	broad.mit.edu	37	12	66639026	66639026	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:66639026G>A	ENST00000261233.4	+	11	1719	c.1298G>A	c.(1297-1299)aGa>aAa	p.R433K	IRAK3_ENST00000457197.2_Missense_Mutation_p.R372K	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	433	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GCAAAGTTAAGACCATCAATG	0.428000													9	143					0	0	1	0	0
LRFN5	145581	broad.mit.edu	37	14	42356244	42356244	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:42356244C>T	ENST00000554171.1	+	5	2848	c.416C>T	c.(415-417)tCc>tTc	p.S139F	LRFN5_ENST00000554120.1_Missense_Mutation_p.S139F|LRFN5_ENST00000298119.4_Missense_Mutation_p.S139F			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	139						integral to membrane		p.S139F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		ACTTTAATTTCCTCTACAGCG	0.378000										HNSCC(30;0.082)			17	77					0	0	1	0	0
TRBV6-6	28601	broad.mit.edu	37	7	142162019	142162019	+	RNA	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:142162019A>G	ENST00000390371.3	-	0	299																											GTTGATCTGGAGACGTTGTAG	0.512000													46	279					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55698706	55698706	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:55698706C>T	ENST00000373965.2	-	26	3657	c.3263G>A	c.(3262-3264)gGa>gAa	p.G1088E	PCDH15_ENST00000395430.1_Missense_Mutation_p.G1081E|PCDH15_ENST00000395432.2_Missense_Mutation_p.G1044E|PCDH15_ENST00000414778.1_Missense_Mutation_p.G1086E|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.G1081E|PCDH15_ENST00000437009.1_Missense_Mutation_p.G1010E|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.G1081E|PCDH15_ENST00000409834.1_Missense_Mutation_p.G692E|PCDH15_ENST00000320301.6_Missense_Mutation_p.G1081E|PCDH15_ENST00000395433.1_Missense_Mutation_p.G1059E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.G1088E	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1081	Cadherin 10.				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)				GTTATTAATTCCAAATGTATC	0.358000										HNSCC(58;0.16)			4	57					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38121882	38121882	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:38121882C>T	ENST00000406386.3	+	7	3574	c.3319C>T	c.(3319-3321)Cag>Tag	p.Q1107*	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	1107					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho 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)					CGAGCCCCTTCAGCTCCCTGC	0.642000													16	141					0	0	1	0	0
NRK	203447	broad.mit.edu	37	X	105167252	105167252	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:105167252G>A	ENST00000428173.2	+	18	3059	c.2756G>A	c.(2755-2757)gGt>gAt	p.G919D	NRK_ENST00000243300.9_Missense_Mutation_p.G918D			Q7Z2Y5	NRK_HUMAN	Nik related kinase	918	Asp-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GAAGAGGATGGTGATTATGTT	0.423000										HNSCC(51;0.14)			9	34					0	0	1	0	0
TBX10	347853	broad.mit.edu	37	11	67401709	67401709	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:67401709G>A	ENST00000335385.3	-	4	587	c.500C>T	c.(499-501)tCc>tTc	p.S167F		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	167					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						CTTGTCAAAGGACACAATCTG	0.657000													9	142					0	0	1	0	0
RAB27A	5873	broad.mit.edu	37	15	55522634	55522634	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:55522634G>A	ENST00000396307.2	-	3	455	c.204C>T	c.(202-204)atC>atT	p.I68I	RAB27A_ENST00000569493.1_Silent_p.I68I|RAB27A_ENST00000336787.1_Silent_p.I68I|RAB27A_ENST00000564609.1_Silent_p.I68I	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	68					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		ACTGCAGGTGGATTCTCTGGC	0.468000													15	90					0	0	1	0	0
GABRB3	2562	broad.mit.edu	37	15	26812824	26812824	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:26812824T>C	ENST00000541819.2	-	8	1009	c.907A>G	c.(907-909)Att>Gtt	p.I303V	GABRB3_ENST00000400188.3_Missense_Mutation_p.I176V|GABRB3_ENST00000299267.4_Missense_Mutation_p.I247V|GABRB3_ENST00000545868.1_Missense_Mutation_p.I162V|GABRB3_ENST00000311550.5_Missense_Mutation_p.I247V			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	247					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GTCTGAAGAATGAAGTATCCA	0.443000													9	80					0	0	1	0	0
OR10A2	341276	broad.mit.edu	37	11	6891861	6891861	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:6891861C>T	ENST00000307322.4	+	1	938	c.876C>T	c.(874-876)gtC>gtT	p.V292V		NM_001004460.1	NP_001004460.1	Q9H208	O10A2_HUMAN	olfactory receptor, family 10, subfamily A, member 2	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(12)|urinary_tract(1)	24		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.89e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCAGGACGGTCTCTAAGGCCC	0.453000													13	91					0	0	1	0	0
CPED1	79974	broad.mit.edu	37	7	120782053	120782053	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:120782053G>A	ENST00000310396.5	+	16	2380	c.1913G>A	c.(1912-1914)gGa>gAa	p.G638E	CPED1_ENST00000423795.1_Missense_Mutation_p.G418E|CPED1_ENST00000450913.2_Missense_Mutation_p.G638E	NM_024913.4	NP_079189.4			cadherin-like and PC-esterase domain containing 1																		CTGGGCTTAGGAATGAACAAA	0.428000													24	102					0	0	1	0	0
WBSCR17	64409	broad.mit.edu	37	7	71175763	71175763	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:71175763G>A	ENST00000333538.5	+	10	2152	c.1518G>A	c.(1516-1518)aaG>aaA	p.K506K	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	506	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GCTACACCAAGGAAGGCTTCC	0.637000													9	96					0	0	1	0	0
TRIM60	166655	broad.mit.edu	37	4	165962460	165962460	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:165962460C>T	ENST00000512596.1	+	3	1452	c.1236C>T	c.(1234-1236)ccC>ccT	p.P412P	TRIM60_ENST00000508504.1_Silent_p.P412P|TRIM60_ENST00000341062.5_Silent_p.P412P	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	412	B30.2/SPRY.					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)		TAGTAAAACCCAGTAAAATTG	0.398000													14	127					0	0	1	0	0
ZBTB22	9278	broad.mit.edu	37	6	33283663	33283663	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:33283663G>A	ENST00000431845.2	-	2	1182	c.1031C>T	c.(1030-1032)tCc>tTc	p.S344F	ZBTB22_ENST00000418724.1_Missense_Mutation_p.S344F	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						TGGAACCCTGGAGCTACCCCC	0.582000													7	124					0	0	1	0	0
OR5T1	390155	broad.mit.edu	37	11	56044028	56044028	+	Missense_Mutation	SNP	G	G	A	rs143790336		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:56044028G>A	ENST00000313033.2	+	1	1000	c.914G>A	c.(913-915)cGg>cAg	p.R305Q		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R305P(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TACAGTTTGCGGAACAAAGAT	0.343000													9	125					0	0	1	0	0
IGF1R	3480	broad.mit.edu	37	15	99491830	99491830	+	Silent	SNP	C	C	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:99491830C>A	ENST00000268035.6	+	20	4226	c.3615C>A	c.(3613-3615)atC>atA	p.I1205I	IGF1R_ENST00000558762.1_Silent_p.I1204I	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1205	Protein kinase.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TCTGGGAGATCGCCACACTGG	0.582000													7	170					0.0293803	0.0294205	1	1	0
SUN2	25777	broad.mit.edu	37	22	39135880	39135880	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:39135880G>A	ENST00000405510.1	-	14	1783	c.1425C>T	c.(1423-1425)ctC>ctT	p.L475L	SUN2_ENST00000216064.4_Silent_p.L475L|SUN2_ENST00000411587.2_Silent_p.L464L|SUN2_ENST00000405018.1_Silent_p.L496L|SUN2_ENST00000406622.1_Silent_p.L475L|RP3-508I15.14_ENST00000416406.1_RNA	NM_001199580.1	NP_001186509.1	Q9UH99	SUN2_HUMAN	Sad1 and UNC84 domain containing 2	475					centrosome localization|cytoskeletal anchoring at nuclear membrane|mitotic spindle organization|nuclear envelope organization|nuclear matrix anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	endosome membrane|integral to membrane|nuclear inner membrane|SUN-KASH complex	lamin binding|microtubule binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)|stomach(1)	15						CTCTCTGAAGGAGCCCCACGC	0.627000													9	151					0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168108266	168108266	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:168108266C>T	ENST00000409195.1	+	9	10453	c.10364C>T	c.(10363-10365)cCa>cTa	p.P3455L	XIRP2_ENST00000295237.9_Missense_Mutation_p.P3455L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.P3233L|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3280					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						AAGCATGCCCCACCAACCTAT	0.403000													14	68					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233314884	233314884	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:233314884G>A	ENST00000258229.8	-	16	3338	c.3104C>T	c.(3103-3105)tCg>tTg	p.S1035L	PCNXL2_ENST00000488780.2_Missense_Mutation_p.S168L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1035						integral to membrane		p.S1035L(1)		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)				ACAGAAGGCCGAAAACAGTGC	0.512000													5	86					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145379738	145379738	+	Missense_Mutation	SNP	G	G	A	rs150323691		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:145379738G>A	ENST00000511217.1	+	2	548	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	SH3RF2_ENST00000359120.4_Missense_Mutation_p.E166K			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	166	SH3 1.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTACCAGGGGGAAATCAATGG	0.547000													8	79					0	0	1	0	0
SNCAIP	9627	broad.mit.edu	37	5	121758902	121758902	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:121758902C>A	ENST00000261367.7	+	6	2039	c.611C>A	c.(610-612)cCt>cAt	p.P204H	SNCAIP_ENST00000379536.2_Missense_Mutation_p.P157H|SNCAIP_ENST00000503116.2_Missense_Mutation_p.P204H|SNCAIP_ENST00000414317.2_Intron|SNCAIP_ENST00000504884.2_Intron|SNCAIP_ENST00000261368.8_Missense_Mutation_p.P157H|SNCAIP_ENST00000379533.2_Missense_Mutation_p.P204H|SNCAIP_ENST00000379538.3_Intron|SNCAIP_ENST00000542191.1_Intron			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	157					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		CTGGATGTGCCTTATATTAAA	0.493000													6	135					3.59834e-05	3.64313e-05	1	1	0
OGDH	4967	broad.mit.edu	37	7	44713490	44713490	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:44713490C>T	ENST00000222673.5	+	6	780	c.738C>T	c.(736-738)ttC>ttT	p.F246F	OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Silent_p.F197F|OGDH_ENST00000449767.1_Silent_p.F242F|OGDH_ENST00000447398.1_Silent_p.F257F|OGDH_ENST00000444676.1_Silent_p.F261F|OGDH_ENST00000443864.2_Silent_p.F246F|OGDH_ENST00000459672.1_3'UTR	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	246					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)	TCATGCAGTTCACAAATGAGG	0.577000													7	125					0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101747907	101747907	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:101747907C>T	ENST00000375001.3	+	3	584	c.161C>T	c.(160-162)tCc>tTc	p.S54F		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	54	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTGCCCTCGTCCGTATCCTTT	0.607000													6	32					0	0	1	0	0
GDF15	9518	broad.mit.edu	37	19	18497276	18497276	+	Splice_Site	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:18497276G>A	ENST00000595973.1	+	2	828	c.277_splice	c.e2+1	p.V93_splice	GDF15_ENST00000252809.3_Splice_Site_p.V93_splice			Q99988	GDF15_HUMAN	growth differentiation factor 15	93					cell-cell signaling|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			kidney(2)|large_intestine(1)|liver(1)|lung(5)|prostate(2)|skin(1)	12						CACGCCAGAAGGTAAGTGAAA	0.572000													4	31					0	0	1	0	0
VN1R4	317703	broad.mit.edu	37	19	53770583	53770583	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:53770583C>T	ENST00000311170.4	-	1	389	c.336G>A	c.(334-336)agG>agA	p.R112R		NM_173857.2	NP_776256.2	Q7Z5H5	VN1R4_HUMAN	vomeronasal 1 receptor 4	112					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity	p.R112R(1)		central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		ACCTGGATTTCCTGGAGCTGA	0.498000										HNSCC(26;0.072)			7	50					0	0	1	0	0
RFPL3	10738	broad.mit.edu	37	22	32754281	32754281	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:32754281G>A	ENST00000249007.4	+	1	428	c.223G>A	c.(223-225)Gat>Aat	p.D75N	RFPL3_ENST00000397468.1_Missense_Mutation_p.D46N|RFPL3_ENST00000382088.3_Missense_Mutation_p.D46N	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	75							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						CCATGGGGAGGATCTGCTTTG	0.537000													16	133					0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209811883	209811883	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:209811883C>T	ENST00000391911.1	-	3	683	c.294G>A	c.(292-294)caG>caA	p.Q98Q	LAMB3_ENST00000367030.3_Silent_p.Q98Q|LAMB3_ENST00000356082.4_Silent_p.Q98Q	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	98	Laminin N-terminal.				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)		GCTCACCATTCTGTGACTGCC	0.532000													9	49					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75038302	75038302	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:75038302C>T	ENST00000326665.5	-	14	3310	c.3092G>A	c.(3091-3093)gGg>gAg	p.G1031E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1031	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						CATCTCTTCCCCTTCCACATC	0.498000													20	191					0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117250683	117250683	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:117250683C>T	ENST00000003084.6	+	19	3231	c.3099C>T	c.(3097-3099)ttC>ttT	p.F1033F	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Silent_p.F972F	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1033	ABC transmembrane type-1 2.				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|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain 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)	GAGCATATTTCCTCCAAACCT	0.388000									Cystic Fibrosis				6	52					0	0	1	0	0
COQ7	10229	broad.mit.edu	37	16	19078994	19078994	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:19078994G>A	ENST00000321998.5	+	1	74	c.8G>A	c.(7-9)tGc>tAc	p.C3Y	RP11-626G11.5_ENST00000567047.1_RNA|COQ7_ENST00000568985.1_Missense_Mutation_p.C3Y	NM_016138.4	NP_057222.2	Q99807	COQ7_HUMAN	coenzyme Q7 homolog, ubiquinone (yeast)	3					ubiquinone biosynthetic process	mitochondrial inner membrane|nucleus	oxidoreductase activity|transition metal ion binding			breast(1)|large_intestine(1)|lung(3)|prostate(1)|skin(3)|urinary_tract(1)	10						GCAATGAGTTgcgccggggcg	0.647000													6	38					0	0	1	0	0
CDH16	1014	broad.mit.edu	37	16	66945962	66945962	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:66945962C>T	ENST00000299752.4	-	13	1823	c.1630G>A	c.(1630-1632)Ggc>Agc	p.G544S	CDH16_ENST00000565796.1_Missense_Mutation_p.G544S|CDH16_ENST00000568632.1_Missense_Mutation_p.G447S|CDH16_ENST00000570262.1_Missense_Mutation_p.G464S|CDH16_ENST00000394055.3_Missense_Mutation_p.G544S	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	544	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GCTCCAGGGCCTGGGCCTGGC	0.632000													14	82					0	0	1	0	0
RFT1	91869	broad.mit.edu	37	3	53139703	53139703	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:53139703T>C	ENST00000296292.3	-	9	1004	c.943A>G	c.(943-945)Aca>Gca	p.T315A	RFT1_ENST00000394738.3_Missense_Mutation_p.T276A	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	315					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		TTCTGAAGTGTGGCATCCTTT	0.408000													36	196					0	0	1	0	0
CABIN1	23523	broad.mit.edu	37	22	24494038	24494038	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:24494038G>A	ENST00000398319.2	+	26	4385	c.4000G>A	c.(4000-4002)Gga>Aga	p.G1334R	CABIN1_ENST00000263119.5_Missense_Mutation_p.G1334R|CABIN1_ENST00000405822.2_Missense_Mutation_p.G1284R	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1334					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCCGGGCCCCGGAGCCTCCCT	0.607000													9	95					0	0	1	0	0
RFX4	5992	broad.mit.edu	37	12	107155189	107155189	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:107155189A>C	ENST00000392842.1	+	18	2564	c.2150A>C	c.(2149-2151)cAa>cCa	p.Q717P	RFX4_ENST00000357881.4_Missense_Mutation_p.Q726P|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.Q623P	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	717					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						GAGCACATGCAACACTTTCCT	0.428000													7	89					0	0	1	0	0
LRRC37A3	374819	broad.mit.edu	37	17	62855899	62855899	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:62855899G>A	ENST00000584306.1	-	11	4895	c.4365C>T	c.(4363-4365)tcC>tcT	p.S1455S	LRRC37A3_ENST00000319651.5_Silent_p.S1455S|LRRC37A3_ENST00000334962.5_Silent_p.S432S|LRRC37A3_ENST00000400877.3_Silent_p.S493S|LRRC37A3_ENST00000339474.5_Silent_p.S573S	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1455						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGGGCTCGGGGGACAGGTCAG	0.502000													16	178					0	0	1	0	0
OR5M11	219487	broad.mit.edu	37	11	56310459	56310459	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:56310459G>A	ENST00000528616.2	-	1	298	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						ACCAGCAAAGGAAATGGTCTT	0.433000													9	85					0	0	1	0	0
CEACAM8	1088	broad.mit.edu	37	19	43093166	43093166	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:43093166G>A	ENST00000244336.5	-	4	829	c.728C>T	c.(727-729)tCc>tTc	p.S243F	LIPE-AS1_ENST00000594624.2_RNA|CEACAM8_ENST00000599005.1_Intron|LIPE-AS1_ENST00000594688.1_RNA	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	243	Ig-like C2-type 2.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				GTCTGAAGGGGAAATGGTGGG	0.517000													8	99					0	0	1	0	0
OMA1	115209	broad.mit.edu	37	1	59004619	59004619	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:59004619G>A	ENST00000371226.3	-	2	461	c.348C>T	c.(346-348)gtC>gtT	p.V116V	OMA1_ENST00000358603.2_Silent_p.V116V|DAB1_ENST00000485760.1_Intron|OMA1_ENST00000467063.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	116					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)					ACAGACTAGGGACTGCTGTAA	0.418000													11	113					0	0	1	0	0
RIT2	6014	broad.mit.edu	37	18	40503608	40503608	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:40503608G>A	ENST00000589109.1	-	4	526	c.355C>T	c.(355-357)Cag>Tag	p.Q119*	RIT2_ENST00000282028.4_Nonsense_Mutation_p.Q119*|RIT2_ENST00000326695.5_Nonsense_Mutation_p.Q119*|RIT2_ENST00000590910.1_Silent_p.F139F	NM_001272077.1	NP_001259006.1	Q99578	RIT2_HUMAN	Ras-like without CAAX 2	119					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGCGGACCTGAAAAATGAGC	0.498000													21	295					0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223567855	223567855	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:223567855G>A	ENST00000366875.3	+	1	1141	c.1038G>A	c.(1036-1038)tgG>tgA	p.W346*		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	346										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AAAGCCGGTGGAAGGAGCAAC	0.697000													4	10					0	0	1	0	0
GSDMC	56169	broad.mit.edu	37	8	130789735	130789735	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:130789735T>G	ENST00000276708.4	-	2	980	c.99A>C	c.(97-99)ttA>ttC	p.L33F		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	33						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						CAAACTGACGTAATTTGGTGG	0.403000													30	166					0	0	1	0	0
PLXNA4	91584	broad.mit.edu	37	7	131859653	131859653	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:131859653G>A	ENST00000359827.3	-	21	4863	c.3901C>T	c.(3901-3903)Cat>Tat	p.H1301Y	PLXNA4_ENST00000321063.4_Missense_Mutation_p.H1301Y			Q9HCM2	PLXA4_HUMAN	plexin A4	1301						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						GTCAGCTCATGGATGTCCGTC	0.567000													22	107					0	0	1	0	0
REG1P	5969	broad.mit.edu	37	2	79363156	79363156	+	RNA	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:79363156G>A	ENST00000444841.1	-	0	1182																											AATGTCCCAGGATTTGTAGGA	0.517000													8	19					0	0	1	0	0
NFIA	4774	broad.mit.edu	37	1	61818176	61818176	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:61818176C>T	ENST00000403491.3	+	5	1239	c.755C>T	c.(754-756)tCt>tTt	p.S252F	NFIA_ENST00000407417.3_Missense_Mutation_p.S244F|NFIA_ENST00000371191.1_Missense_Mutation_p.S275F|NFIA_ENST00000371185.2_Missense_Mutation_p.S230F|NFIA_ENST00000371187.3_Missense_Mutation_p.S252F|NFIA_ENST00000371189.4_Missense_Mutation_p.S297F|NFIA_ENST00000371184.2_Intron|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000485903.2_Missense_Mutation_p.S252F	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	252					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						TTGGAAAGTTCTTCATACTAC	0.388000													4	59					0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78513168	78513168	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:78513168C>T	ENST00000397909.2	+	15	3365	c.3192C>T	c.(3190-3192)tcC>tcT	p.S1064S	NAV3_ENST00000266692.7_Silent_p.S1064S|NAV3_ENST00000228327.6_Silent_p.S1064S|NAV3_ENST00000536525.2_Silent_p.S1064S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1064	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CCACCAGCTCCTTTGGCTTTA	0.483000										HNSCC(70;0.22)			16	134					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126242620	126242620	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:126242620G>A	ENST00000394329.3	+	1	5067	c.5054G>A	c.(5053-5055)cGa>cAa	p.R1685Q		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1685	Cadherin 16.				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						ACTATTGGACGACATACTGGT	0.453000													12	149					0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715934	68715934	+	Missense_Mutation	SNP	G	G	C	rs143719499	byFrequency	TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:68715934G>C	ENST00000325631.5	+	2	796	c.722G>C	c.(721-723)aGt>aCt	p.S241T	MARVELD2_ENST00000413223.2_Missense_Mutation_p.S241T	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	241	MARVEL.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		GGATTGGGCAGTATGTATGGG	0.468000													12	117					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22383180	22383180	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:22383180C>T	ENST00000328795.4	+	1	799	c.708C>T	c.(706-708)gcC>gcT	p.A236A	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AGAACAAGGCCATGTCCACGT	0.502000													11	193					0	0	1	0	0
KLHDC4	54758	broad.mit.edu	37	16	87790031	87790031	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:87790031C>A	ENST00000270583.5	-	3	302	c.244G>T	c.(244-246)Gga>Tga	p.G82*	KLHDC4_ENST00000353170.5_Intron|KLHDC4_ENST00000347925.5_Nonsense_Mutation_p.G82*	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	82										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		TATTCACCTCCAAAAAGGATT	0.408000													4	41					0.00909568	0.00913938	1	1	0
PAK3	5063	broad.mit.edu	37	X	110459748	110459748	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:110459748G>A	ENST00000519681.1	+	18	2012	c.1570G>A	c.(1570-1572)Gat>Aat	p.D524N	PAK3_ENST00000360648.4_Missense_Mutation_p.D539N|PAK3_ENST00000446737.1_Missense_Mutation_p.D503N|PAK3_ENST00000425146.1_Missense_Mutation_p.D503N|PAK3_ENST00000372010.1_Missense_Mutation_p.D518N|PAK3_ENST00000417227.1_Missense_Mutation_p.D524N|PAK3_ENST00000262836.4_Missense_Mutation_p.D518N|PAK3_ENST00000518291.1_Missense_Mutation_p.D539N|PAK3_ENST00000372007.4_Missense_Mutation_p.D503N			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	518	Protein kinase.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TCTTGAGATGGATGTGGATAG	0.428000										TSP Lung(19;0.15)			13	36					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212252695	212252695	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:212252695G>A	ENST00000342788.4	-	26	3468	c.3158C>T	c.(3157-3159)cCt>cTt	p.P1053L	ERBB4_ENST00000436443.1_Intron|ERBB4_ENST00000402597.1_Missense_Mutation_p.P1043L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1053					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GTAGGCAGGAGGAGGGCTGTG	0.368000										TSP Lung(8;0.080)			12	129					0	0	1	0	0
PLS1	5357	broad.mit.edu	37	3	142408642	142408642	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:142408642G>A	ENST00000337777.3	+	10	1377	c.1164G>A	c.(1162-1164)atG>atA	p.M388I	PLS1_ENST00000457734.2_Missense_Mutation_p.M388I|PLS1_ENST00000497002.1_Missense_Mutation_p.M388I	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	388	Actin-binding 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						ACATCGATATGAATTTACTGG	0.368000													13	72					0	0	1	0	0
ZFP42	132625	broad.mit.edu	37	4	188924150	188924150	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:188924150C>T	ENST00000326866.4	+	4	597	c.189C>T	c.(187-189)ctC>ctT	p.L63L	ZFP42_ENST00000509524.1_Silent_p.L63L	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	63					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)		CTCAGGCTCTCGGAGGGGATG	0.512000													6	101					0	0	1	0	0
PAPOLG	64895	broad.mit.edu	37	2	61024234	61024234	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:61024234C>T	ENST00000238714.3	+	22	2399	c.2150C>T	c.(2149-2151)cCa>cTa	p.P717L		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	717					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TCATCATCTCCAGTTCCAGCA	0.383000													16	112					0	0	1	0	0
IGKV6D-41	28869	broad.mit.edu	37	2	90108975	90108975	+	RNA	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:90108975G>A	ENST00000390271.2	+	0	266																											GGGTCCCCTCGAGGTTCAGTG	0.498000													10	92					0	0	1	0	0
OR4N4	283694	broad.mit.edu	37	15	22382647	22382647	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:22382647C>T	ENST00000328795.4	+	1	266	c.175C>T	c.(175-177)Ctc>Ttc	p.L59F	RP11-69H14.6_ENST00000558896.1_RNA	NM_001005241.2	NP_001005241.2	Q8N0Y3	OR4N4_HUMAN	olfactory receptor, family 4, subfamily N, member 4	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		CACAGCCCCCCTCTATTTATT	0.453000													23	404					0	0	1	0	0
MUM1L1	139221	broad.mit.edu	37	X	105450968	105450968	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:105450968C>T	ENST00000337685.2	+	5	2328	c.1543C>T	c.(1543-1545)Cca>Tca	p.P515S	MUM1L1_ENST00000357175.2_Missense_Mutation_p.P515S|MUM1L1_ENST00000372552.1_Missense_Mutation_p.P515S	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	515										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GAACAAATTTCCAAAGCTGCA	0.428000													3	26					0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42198129	42198129	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:42198129C>T	ENST00000373100.1	+	7	793	c.333C>T	c.(331-333)ttC>ttT	p.F111F	SGK2_ENST00000341458.4_Silent_p.F171F|SGK2_ENST00000485914.1_3'UTR|SGK2_ENST00000426287.1_Silent_p.F137F|SGK2_ENST00000373092.3_Silent_p.F111F|SGK2_ENST00000373077.1_Silent_p.F110F|SGK2_ENST00000423407.3_Silent_p.F111F			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	171	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AGCTCTACTTCGTGCTCGACT	0.632000													14	41					0	0	1	0	0
PSKH2	85481	broad.mit.edu	37	8	87076824	87076824	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:87076824G>A	ENST00000276616.2	-	2	296	c.222C>T	c.(220-222)ttC>ttT	p.F74F	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	74	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)			CAACCCTGCTGAAACTGCCTG	0.428000													22	96					0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20829125	20829125	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:20829125C>T	ENST00000601440.1	-	2	236	c.90G>A	c.(88-90)agG>agA	p.R30R	ZNF626_ENST00000291750.6_Silent_p.R30R|CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	30	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						ACATCACATTCCTATATAAAT	0.378000													9	149					0	0	1	0	0
GRM1	2911	broad.mit.edu	37	6	146720092	146720092	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:146720092C>T	ENST00000392299.2	+	8	2387	c.1917C>T	c.(1915-1917)ttC>ttT	p.F639F	GRM1_ENST00000282753.1_Silent_p.F639F|GRM1_ENST00000492807.2_Silent_p.F639F|GRM1_ENST00000355289.4_Silent_p.F639F|GRM1_ENST00000361719.2_Silent_p.F639F|GRM1_ENST00000507907.1_Silent_p.F639F			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	639					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CTGGCATCTTCCTTGGTTATG	0.517000													11	281					0	0	1	0	0
TSIX	9383	broad.mit.edu	37	X	73046480	73046480	+	RNA	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:73046480C>T	ENST00000604411.1	+	0	34441				XIST_ENST00000429829.1_lincRNA	NR_003255.2																						GTTTAGGGTTCTCATCTTGGG	0.428000													22	72					0	0	1	0	0
OR5H15	403274	broad.mit.edu	37	3	97888402	97888402	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:97888402C>T	ENST00000356526.2	+	1	859	c.859C>T	c.(859-861)Cct>Tct	p.P287S		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	287					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						TTTGTTAAATCCTATCATCTA	0.353000													7	61					0	0	1	0	0
NPFFR2	10886	broad.mit.edu	37	4	73012773	73012773	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:73012773C>T	ENST00000308744.6	+	4	911	c.813C>T	c.(811-813)gtC>gtT	p.V271V	NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Silent_p.V169V|NPFFR2_ENST00000395999.1_Silent_p.V172V|NPFFR2_ENST00000344413.5_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	271					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TCATCTGGGTCCTAGCCATCA	0.393000													10	260					0	0	1	0	0
TMEM100	55273	broad.mit.edu	37	17	53798202	53798202	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:53798202C>T	ENST00000575734.1	-	4	1038	c.230G>A	c.(229-231)aGc>aAc	p.S77N	TMEM100_ENST00000424486.2_Missense_Mutation_p.S77N	NM_001099640.1	NP_001093110.1	Q9NV29	TM100_HUMAN	transmembrane protein 100	77						integral to membrane				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	11						GGAATTGAAGCTGTAAGCCAC	0.532000													8	144					0	0	1	0	0
ZNF804A	91752	broad.mit.edu	37	2	185802581	185802581	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:185802581C>T	ENST00000302277.6	+	4	3052	c.2458C>T	c.(2458-2460)Cac>Tac	p.H820Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	820						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AGGCAGATTCCACCCCGGATT	0.398000													18	66					0	0	1	0	0
PSMA4	5685	broad.mit.edu	37	15	78841204	78841204	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:78841204A>T	ENST00000044462.7	+	9	854	c.704A>T	c.(703-705)cAg>cTg	p.Q235L	PSMA4_ENST00000558341.1_Silent_p.A120A|PSMA4_ENST00000558281.1_3'UTR|PSMA4_ENST00000558094.1_3'UTR|PSMA4_ENST00000413382.2_Missense_Mutation_p.Q164L|PSMA4_ENST00000560217.1_Missense_Mutation_p.Q204L|PSMA4_ENST00000559082.1_Missense_Mutation_p.Q235L	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	235					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|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|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GAAGTGGAGCAGTTGATCAAA	0.328000													10	69					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12336563	12336563	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:12336563G>A	ENST00000358136.3	+	19	3048	c.2918G>A	c.(2917-2919)cGg>cAg	p.R973Q	VPS13D_ENST00000356315.4_Missense_Mutation_p.R973Q	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	973					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)		AGCAATGGCCGGTACATTTCT	0.502000											OREG0013110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	131					0	0	1	0	0
SLC27A5	10998	broad.mit.edu	37	19	59010865	59010865	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:59010865G>A	ENST00000263093.2	-	7	1770	c.1661C>T	c.(1660-1662)aCc>aTc	p.T554I	SLC27A5_ENST00000601355.1_Missense_Mutation_p.T470I	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	554					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity	p.T554I(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GGACCGGAAGGTGTCCCCGAG	0.657000													9	46					0	0	1	0	0
LRRC55	219527	broad.mit.edu	37	11	56949832	56949832	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:56949832C>T	ENST00000497933.1	+	1	612	c.465C>T	c.(463-465)gcC>gcT	p.A155A		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	125						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TCCTCCATGCCAAGCGCTTGG	0.582000													4	32					0	0	1	0	0
IL10RB	3588	broad.mit.edu	37	21	34655486	34655486	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr21:34655486C>T	ENST00000290200.2	+	5	694	c.586C>T	c.(586-588)Cct>Tct	p.P196S	AP000295.9_ENST00000433395.2_Silent_p.F323F	NM_000628.4	NP_000619.3			interleukin 10 receptor, beta											endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						AGGGTTTCTTCCTGATCGGAA	0.478000													4	68					0	0	1	0	0
SLFN13	146857	broad.mit.edu	37	17	33768054	33768054	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:33768054G>A	ENST00000285013.6	-	6	2529	c.2254C>T	c.(2254-2256)Cct>Tct	p.P752S	SLFN13_ENST00000542635.1_Missense_Mutation_p.P752S|SLFN13_ENST00000534689.1_Missense_Mutation_p.P434S|SLFN13_ENST00000533791.1_Missense_Mutation_p.P752S|SLFN13_ENST00000360502.2_Missense_Mutation_p.P434S|SLFN13_ENST00000526861.1_Missense_Mutation_p.P752S	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	752						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)		TTAATTGGAGGATTTTCTATA	0.393000													12	144					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9014191	9014191	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:9014191C>T	ENST00000397910.4	-	32	38660	c.38457G>A	c.(38455-38457)caG>caA	p.Q12819Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12821				Missing (in Ref. 3; AAK74120).	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						GCGCAGAGGTCTGATGGGTGA	0.532000													18	64					0	0	1	0	0
ANKFN1	162282	broad.mit.edu	37	17	54555016	54555016	+	Splice_Site	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:54555016G>A	ENST00000566473.2	+	15	1949		c.e15+1		ANKFN1_ENST00000318698.2_Splice_Site			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1											NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						ATATTTCTAGGTAAGTGATCA	0.423000													7	77					0	0	1	0	0
DSP	1832	broad.mit.edu	37	6	7585755	7585755	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:7585755G>A	ENST00000379802.3	+	24	8601	c.8260G>A	c.(8260-8262)Ggg>Agg	p.G2754R	DSP_ENST00000418664.2_Missense_Mutation_p.G2155R	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2754	Globular 2.				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)		CATCCGGAAGGGGTTCATAGA	0.542000													22	189					0	0	1	0	0
PHGDH	26227	broad.mit.edu	37	1	120263824	120263824	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:120263824C>T	ENST00000369407.3	+	1	1575	c.68C>T	c.(67-69)aCc>aTc	p.T23I	PHGDH_ENST00000369409.4_Missense_Mutation_p.T57I			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	57					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CGCTCTGCCACCAAGGTGACC	0.532000													15	126					0	0	1	0	0
DCHS2	54798	broad.mit.edu	37	4	155156620	155156620	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:155156620C>T	ENST00000357232.3	-	25	7818	c.7819G>A	c.(7819-7821)Gtg>Atg	p.V2607M		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2607					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V2607M(1)		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)		ACAGGGACCACCTCGTTACTG	0.483000													10	111					0	0	1	0	0
AGAP3	116988	broad.mit.edu	37	7	150841010	150841010	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:150841010C>T	ENST00000397238.2	+	18	2716	c.2716C>T	c.(2716-2718)Cgt>Tgt	p.R906C	AGAP3_ENST00000463381.1_Missense_Mutation_p.R575C	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	870					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	p.R906S(1)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGAGCTGCACCGTAGTCCTAG	0.622000													9	97					0	0	1	0	0
HSPBAP1	79663	broad.mit.edu	37	3	122487727	122487727	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:122487727G>A	ENST00000383659.1	-	3	375	c.253C>T	c.(253-255)Cct>Tct	p.P85S	HSPBAP1_ENST00000306103.2_Missense_Mutation_p.P85S|HSPBAP1_ENST00000465044.1_5'UTR			Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	85						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TCAAACTGAGGAACTGCAATG	0.303000													4	40					0	0	1	0	0
PXDN	7837	broad.mit.edu	37	2	1653130	1653130	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:1653130C>T	ENST00000252804.4	-	17	2472	c.2422G>A	c.(2422-2424)Gtc>Atc	p.V808I		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	808					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)		TCGGGTGTGACGGTCTCCGTC	0.657000													6	64					0	0	1	0	0
MYH15	22989	broad.mit.edu	37	3	108163519	108163519	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:108163519C>T	ENST00000273353.3	-	23	2739	c.2683G>A	c.(2683-2685)Gaa>Aaa	p.E895K		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	895						myofibril|myosin filament	actin binding|ATP 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						TCATTTTTTTCCTGAGTGAGG	0.428000													21	97					0	0	1	0	0
BBS10	79738	broad.mit.edu	37	12	76740176	76740176	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:76740176C>T	ENST00000393262.3	-	2	1672	c.1589G>A	c.(1588-1590)aGa>aAa	p.R530K		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	530					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TAGCCTGTTTCTTTCCAAAGA	0.348000									Bardet-Biedl syndrome				8	122					0	0	1	0	0
LPIN3	64900	broad.mit.edu	37	20	39974472	39974472	+	Missense_Mutation	SNP	C	C	T	rs144051050		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:39974472C>T	ENST00000373257.3	+	2	120	c.29C>T	c.(28-30)aCg>aTg	p.T10M		NM_022896.1	NP_075047.1	Q9BQK8	LPIN3_HUMAN	lipin 3	10	N-LIP.				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)				CTGGCGGAGACGGTGTTTGGG	0.617000													15	106					0	0	1	0	0
ZNF554	115196	broad.mit.edu	37	19	2827679	2827679	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:2827679C>T	ENST00000317243.5	+	3	389	c.191C>T	c.(190-192)cCt>cTt	p.P64L	ZNF554_ENST00000591265.1_Missense_Mutation_p.P64L	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	64	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		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)		TTGCTGGAGCCTGCTCAGAAG	0.498000													12	72					0	0	1	0	0
ATP13A4	84239	broad.mit.edu	37	3	193232635	193232635	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:193232635C>T	ENST00000342695.4	-	2	408	c.86G>A	c.(85-87)gGc>gAc	p.G29D	ATP13A4_ENST00000295548.3_Missense_Mutation_p.G29D|ATP13A4_ENST00000392443.3_Missense_Mutation_p.G29D	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	29					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)		TTTCCGGCAGCCTTGAGTCCG	0.423000													13	103					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61834071	61834071	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:61834071C>T	ENST00000280772.1	-	37	6759	c.6568G>A	c.(6568-6570)Gag>Aag	p.E2190K	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2190					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						GACACAGGCTCCTCTGGTTGG	0.448000													8	158					0	0	1	0	0
LIPK	643414	broad.mit.edu	37	10	90499824	90499824	+	Splice_Site	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:90499824G>A	ENST00000404190.1	+	7	888	c.888_splice	c.e7+1	p.Q296_splice		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	296					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		ACTGGGCTCAGGTAAGTGCTT	0.483000													4	56					0	0	1	0	0
ILDR1	286676	broad.mit.edu	37	3	121712152	121712152	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:121712152C>T	ENST00000273691.3	-	6	1417	c.1312G>A	c.(1312-1314)Gaa>Aaa	p.E438K	ILDR1_ENST00000462014.1_Missense_Mutation_p.E450K|ILDR1_ENST00000344209.5_Missense_Mutation_p.E482K|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Missense_Mutation_p.E393K	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	482	Arg-rich.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TTGTCCTCTTCAGAGCTCCAG	0.697000													6	24					0	0	1	0	0
DENND3	22898	broad.mit.edu	37	8	142175346	142175346	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:142175346C>T	ENST00000519811.1	+	11	1581	c.1511C>T	c.(1510-1512)gCc>gTc	p.A504V	DENND3_ENST00000424248.1_Missense_Mutation_p.A372V|DENND3_ENST00000262585.2_Missense_Mutation_p.A424V			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	424										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGATGGACGCCTTTGCTCAG	0.517000													7	161					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169511203	169511203	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:169511203G>A	ENST00000367796.3	-	13	3341	c.3140C>T	c.(3139-3141)cCt>cTt	p.P1047L	F5_ENST00000367797.3_Missense_Mutation_p.P1042L			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1042	B.	Cleavage; by thrombin.			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)	CGGAGATAAAGGAGCATGGTG	0.398000													13	342					0	0	1	0	0
RAI1	10743	broad.mit.edu	37	17	17701473	17701473	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:17701473G>A	ENST00000353383.1	+	3	5680	c.5211G>A	c.(5209-5211)gaG>gaA	p.E1737E	RAI1_ENST00000261641.6_Intron	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1737						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TGCCGCTTGAGAGAACACTCA	0.647000													6	46					0	0	1	0	0
DCC	1630	broad.mit.edu	37	18	51025841	51025841	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:51025841G>A	ENST00000442544.2	+	27	4688	c.4072G>A	c.(4072-4074)Gaa>Aaa	p.E1358K	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.E991K	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1358					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)		GAGTGCAATAGAACCGAAAGT	0.458000													22	129					0	0	1	0	0
OR5M1	390168	broad.mit.edu	37	11	56380886	56380886	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:56380886G>A	ENST00000526538.1	-	1	92	c.93C>T	c.(91-93)ttC>ttT	p.F31F		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AGATCGCAAGGAATACCCCAA	0.483000													10	124					0	0	1	0	0
RRAGB	10325	broad.mit.edu	37	X	55783759	55783759	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:55783759C>T	ENST00000374941.4	+	9	1527	c.938C>T	c.(937-939)tCc>tTc	p.S313F	RRAGB_ENST00000262850.7_Missense_Mutation_p.S341F	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B	341					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						TCTGATCCGTCCATTCGTAAG	0.383000													4	24					0	0	1	0	0
MOCS3	27304	broad.mit.edu	37	20	49576504	49576504	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:49576504G>A	ENST00000244051.1	+	1	1142	c.1125G>A	c.(1123-1125)ctG>ctA	p.L375L		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	375	Rhodanese.				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						ACATCCCTCTGAAACATTTGG	0.537000													25	275					0	0	1	0	0
OR52L1	338751	broad.mit.edu	37	11	6007822	6007822	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:6007822G>A	ENST00000332249.4	-	1	393	c.339C>T	c.(337-339)atC>atT	p.I113I		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	113					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)		TCAGGCAGACGATGTACCCAA	0.547000													5	53					0	0	1	0	0
COL28A1	340267	broad.mit.edu	37	7	7493115	7493115	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:7493115G>A	ENST00000399429.3	-	17	1536	c.1396C>T	c.(1396-1398)Cct>Tct	p.P466S		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	466					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)		TGTGGACCAGGTGGACCAATA	0.368000													6	139					0	0	1	0	0
NT5C1B	93034	broad.mit.edu	37	2	18766016	18766016	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:18766016C>T	ENST00000304081.4	-	4	587	c.487G>A	c.(487-489)Gaa>Aaa	p.E163K	NT5C1B_ENST00000359846.2_Missense_Mutation_p.E223K|NT5C1B_ENST00000600945.1_Missense_Mutation_p.E223K|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.E223K	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TGGCGGATTTCCCGCACGATG	0.687000													3	29					0	0	1	0	0
RXFP3	51289	broad.mit.edu	37	5	33937952	33937952	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:33937952C>T	ENST00000330120.3	+	1	1462	c.1107C>T	c.(1105-1107)taC>taT	p.Y369Y		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	369						integral to plasma membrane	N-formyl peptide receptor activity			endometrium(4)|large_intestine(9)|lung(24)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)	42						GCCAGGTATACGCGTTCCCTG	0.617000													8	105					0	0	1	0	0
CPB1	1360	broad.mit.edu	37	3	148558487	148558487	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:148558487A>G	ENST00000491148.1	+	5	621	c.287A>G	c.(286-288)aAc>aGc	p.N96S	CPB1_ENST00000282957.4_Missense_Mutation_p.N96S			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	96					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)			CTGATAAGCAACCTGAGAAAT	0.453000													13	117					0	0	1	0	0
SSPO	23145	broad.mit.edu	37	7	149500574	149500574	+	RNA	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:149500574C>T	ENST00000378016.2	+	0	7975							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATGCCGCTGTCCCCCGGGGCT	0.677000													4	38					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1926254	1926254	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:1926254C>T	ENST00000399161.2	-	10	2034	c.1287G>A	c.(1285-1287)ggG>ggA	p.G429G	MYT1L_ENST00000428368.2_Silent_p.G429G	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	429					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)		GGGTCAGGTTCCCCTTGGTCA	0.552000													10	103					0	0	1	0	0
TNFSF14	8740	broad.mit.edu	37	19	6665054	6665054	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:6665054G>A	ENST00000326176.9	-	5	879	c.498C>T	c.(496-498)ttC>ttT	p.F166F	TNFSF14_ENST00000599359.1_Silent_p.F202F|TNFSF14_ENST00000245912.3_Silent_p.F166F	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	202					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CACCACCCAGGAAGCTGCTGT	0.652000													14	67					0	0	1	0	0
IGKV2D-24	28885	broad.mit.edu	37	2	90044226	90044226	+	RNA	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:90044226C>T	ENST00000462693.1	+	0	177																											GTCAAAGCCTCGTACACAGTG	0.537000													13	210					0	0	1	0	0
PLEK	5341	broad.mit.edu	37	2	68607989	68607989	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:68607989G>A	ENST00000234313.7	+	3	512	c.333G>A	c.(331-333)agG>agA	p.R111R		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	111					actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		AATTTGCCAGGAAATCTACCA	0.463000													26	229					0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100289011	100289011	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:100289011C>T	ENST00000317233.4	-	11	1367	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	AFF3_ENST00000409579.1_Missense_Mutation_p.E403K|AFF3_ENST00000356421.2_Missense_Mutation_p.E403K|AFF3_ENST00000409236.1_Missense_Mutation_p.E378K	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	378					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						TGTTCATTCTCCTCTTCATCA	0.413000													7	172					0	0	1	0	0
OR10H1	26539	broad.mit.edu	37	19	15917948	15917948	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:15917948G>A	ENST00000334920.2	-	1	988	c.900C>T	c.(898-900)gtC>gtT	p.V300V		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						TCTTCATGGCGACCTTCAGCT	0.468000													5	89					0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5664747	5664747	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:5664747C>T	ENST00000354852.5	+	14	2510	c.2337C>T	c.(2335-2337)tcC>tcT	p.S779S	TRIM34_ENST00000429814.2_Silent_p.S425S|TRIM34_ENST00000495668.1_3'UTR|TRIM6-TRIM34_ENST00000457787.2_Silent_p.S425S|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000514226.1_Silent_p.S425S	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		779						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)		TGACTCTCTCCATGGCTGTGC	0.458000													11	144					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94051253	94051253	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:94051253C>T	ENST00000297268.6	+	39	2863	c.2392C>T	c.(2392-2394)Cca>Tca	p.P798S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	798			Missing (in OI2A).|P -> PP (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GACTGGTCCCCCAGGACCCTC	0.453000										HNSCC(75;0.22)			5	55					0	0	1	0	0
CCNL1	57018	broad.mit.edu	37	3	156867342	156867342	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:156867342G>A	ENST00000295926.3	-	9	1183	c.1065C>T	c.(1063-1065)tcC>tcT	p.S355S	CCNL1_ENST00000461804.1_Silent_p.S355S	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1	355					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			TCACATTAATGGAGATTGGTG	0.383000													12	94					0	0	1	0	0
C17orf77	146723	broad.mit.edu	37	17	72588903	72588903	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:72588903C>T	ENST00000392620.1	+	3	1080	c.718C>T	c.(718-720)Cca>Tca	p.P240S	C17orf77_ENST00000328023.2_Missense_Mutation_p.P240S	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	240						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						AGGAACACTTCCACTGGGATC	0.552000													8	76					0	0	1	0	0
BCL2L12	83596	broad.mit.edu	37	19	50169131	50169131	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:50169131C>T	ENST00000246785.3	+	1	309	c.51C>T	c.(49-51)ttC>ttT	p.F17F	IRF3_ENST00000377139.3_5'UTR|BCL2L12_ENST00000441864.2_Silent_p.F17F|BCL2L12_ENST00000246784.3_Silent_p.F17F	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	17					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)		TTTTGGGTTTCCGGCCAGAGG	0.572000													6	53					0	0	1	0	0
HTR3E	285242	broad.mit.edu	37	3	183818289	183818289	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:183818289C>T	ENST00000415389.2	+	2	550	c.84C>T	c.(82-84)ttC>ttT	p.F28F	HTR3E_ENST00000335304.2_Silent_p.F43F|HTR3E_ENST00000436361.2_Silent_p.F43F|HTR3E_ENST00000425359.2_Silent_p.F28F|HTR3E_ENST00000440596.2_Silent_p.F43F|HTR3E-AS1_ENST00000431427.1_RNA	NM_001256613.1|NM_198313.2	NP_001243542.1|NP_938055.1	A5X5Y0	5HT3E_HUMAN	5-hydroxytryptamine (serotonin) receptor 3E, ionotropic	28						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)			GCGTTACTTTCACCATCAATT	0.557000													33	237					0	0	1	0	0
STAB1	23166	broad.mit.edu	37	3	52548788	52548788	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:52548788G>A	ENST00000321725.6	+	35	3826	c.3750G>A	c.(3748-3750)tcG>tcA	p.S1250S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1250	FAS1 4.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TTGGTCTGTCGGGGGTCCTGA	0.667000													12	86					0	0	1	0	0
KIAA0947	23379	broad.mit.edu	37	5	5465223	5465223	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:5465223T>C	ENST00000296564.7	+	13	5998	c.5776T>C	c.(5776-5778)Tct>Cct	p.S1926P		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1926										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TGCAGAGTTTTCTTTTGATCT	0.403000													3	28					0	0	1	0	0
GLP2R	9340	broad.mit.edu	37	17	9783806	9783806	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:9783806C>T	ENST00000262441.5	+	11	1770	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F	GLP2R_ENST00000574745.1_Silent_p.F239F	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	419					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TACGACTTTTCATTCAGTTGA	0.403000													6	133					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40739128	40739128	+	Splice_Site	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:40739128C>T	ENST00000373198.3	-	24	3401		c.e24-1		PTPRT_ENST00000373201.1_Splice_Site|PTPRT_ENST00000373193.3_Splice_Site|PTPRT_ENST00000356100.2_Splice_Site|PTPRT_ENST00000373184.1_Splice_Site|PTPRT_ENST00000373190.1_Splice_Site|PTPRT_ENST00000373187.1_Splice_Site	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T						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)				GGTAGCCTTTCTGAGGAAAGA	0.617000													5	42					0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137330609	137330609	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:137330609C>T	ENST00000367748.1	-	3	677	c.91G>A	c.(91-93)Gtg>Atg	p.V31M	IL20RA_ENST00000316649.5_Missense_Mutation_p.V142M|IL20RA_ENST00000541547.1_Missense_Mutation_p.V93M|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000367746.3_Missense_Mutation_p.V142M			Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	142						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)		GTCAGTGCCACCTCTGGTGGG	0.428000													10	89					0	0	1	0	0
TNFSF4	7292	broad.mit.edu	37	1	173157699	173157699	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:173157699G>A	ENST00000281834.3	-	2	299	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	TNFSF4_ENST00000488053.1_5'UTR|TNFSF4_ENST00000367718.1_Missense_Mutation_p.R5W	NM_003326.3	NP_003317.1	P23510	TNFL4_HUMAN	tumor necrosis factor (ligand) superfamily, member 4	55					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 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 T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|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 T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	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						CGAGGATACCGATGTGATACC	0.323000													12	51					0	0	1	0	0
OR4S1	256148	broad.mit.edu	37	11	48327960	48327960	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:48327960C>T	ENST00000319988.1	+	1	186	c.186C>T	c.(184-186)agC>agT	p.S62S		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						TCTTCCTGAGCCAGTTGTCTT	0.448000													9	146					0	0	1	0	0
SLA2	84174	broad.mit.edu	37	20	35269699	35269699	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:35269699G>A	ENST00000262866.4	-	2	462	c.40C>T	c.(40-42)Cca>Tca	p.P14S	SLA2_ENST00000360672.2_Missense_Mutation_p.P14S	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	14					antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				CTCAAGCTTGGGCTTGGCAGA	0.537000													6	99					0	0	1	0	0
DLGAP3	58512	broad.mit.edu	37	1	35333222	35333222	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:35333222T>C	ENST00000373347.1	-	10	2760	c.2492A>G	c.(2491-2493)gAg>gGg	p.E831G	DLGAP3_ENST00000235180.4_Missense_Mutation_p.E831G			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	831					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				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)				GCGGATCTTCTCCAGGACTAG	0.547000													9	131					0	0	1	0	0
ZNF248	57209	broad.mit.edu	37	10	38120867	38120867	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:38120867G>A	ENST00000395867.3	-	6	1966	c.1416C>T	c.(1414-1416)tcC>tcT	p.S472S	ZNF248_ENST00000494133.1_Intron|ZNF248_ENST00000374648.3_Intron|AL135791.1_ENST00000583461.1_RNA|ZNF248_ENST00000357328.4_Silent_p.S472S	NM_001267605.1|NM_001267606.1|NM_001267607.1|NM_021045.2	NP_001254534.1|NP_001254535.1|NP_001254536.1|NP_066383.1	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	472					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						TGTGGCAGAAGGATTTCCCAC	0.438000													13	145					0	0	1	0	0
ALOXE3	59344	broad.mit.edu	37	17	8020148	8020148	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:8020148G>A	ENST00000380149.1	-	2	796	c.766C>T	c.(766-768)Ccc>Tcc	p.P256S	ALOXE3_ENST00000318227.3_Missense_Mutation_p.P232S|ALOXE3_ENST00000448843.2_Missense_Mutation_p.P100S			Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	100	Lipoxygenase.				leukotriene biosynthetic process		iron ion binding|lipoxygenase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TGATAGCAGGGGAAGTGGGAT	0.557000													5	84					0	0	1	0	0
H2AFY2	55506	broad.mit.edu	37	10	71871389	71871389	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:71871389G>A	ENST00000373255.4	+	9	1333	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	AIFM2_ENST00000373248.1_Intron	NM_018649.2	NP_061119.1	Q9P0M6	H2AW_HUMAN	H2A histone family, member Y2	357	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(4)|skin(1)	15						CTTCGACAGCGAGAGCATCGG	0.602000													5	51					0	0	1	0	0
HTRA4	203100	broad.mit.edu	37	8	38839232	38839232	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:38839232C>T	ENST00000302495.4	+	6	1160	c.1060C>T	c.(1060-1062)Cct>Tct	p.P354S		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	354	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CTTTGCAATTCCTTCAGATCG	0.433000													16	83					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9070017	9070017	+	Missense_Mutation	SNP	G	G	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:9070017G>T	ENST00000397910.4	-	3	17632	c.17429C>A	c.(17428-17430)aCt>aAt	p.T5810N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5812	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						CTCAGTAGTAGTAGTAGTGGG	0.483000													7	119					0.00198382	0.00199746	1	1	0
MYH2	4620	broad.mit.edu	37	17	10429184	10429184	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:10429184C>T	ENST00000245503.5	-	31	4581	c.4197G>A	c.(4195-4197)ctG>ctA	p.L1399L	CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000397183.2_Silent_p.L1399L|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA|MYH2_ENST00000532183.1_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1399					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCCGCTGGGCCAGCTTCTTCC	0.468000													6	53					0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63447728	63447728	+	Silent	SNP	C	C	T	rs143478382		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:63447728C>T	ENST00000322893.7	-	6	1072	c.804G>A	c.(802-804)acG>acA	p.T268T	KCNH5_ENST00000420622.2_Silent_p.T268T|KCNH5_ENST00000394964.2_Silent_p.T210T|KCNH5_ENST00000394968.1_Silent_p.T210T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	268					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.T268T(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)		CCACGAAAGTCGTGTGAAAAT	0.428000													7	74					0	0	1	0	0
DCAF13	25879	broad.mit.edu	37	8	104427608	104427608	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:104427608G>A	ENST00000297579.5	+	1	667	c.390G>A	c.(388-390)ggG>ggA	p.G130G	DCAF13_ENST00000521971.1_5'UTR|DCAF13_ENST00000521716.1_5'UTR	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TCGCCTGTGGGAGGAGGTGGC	0.627000													8	91					0	0	1	0	0
OR10K2	391107	broad.mit.edu	37	1	158390615	158390615	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:158390615G>A	ENST00000314902.2	-	1	41	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGAAGCCGAGGAAGATGACCT	0.502000													21	75					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087443	92087443	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:92087443G>A	ENST00000298047.6	+	1	2182	c.2165G>A	c.(2164-2166)gGa>gAa	p.G722E	FAT3_ENST00000525166.1_Missense_Mutation_p.G572E|FAT3_ENST00000409404.2_Missense_Mutation_p.G722E|FAT3_ENST00000541502.1_Missense_Mutation_p.G722E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	722					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)				AATAGACAGGGACCATATTTT	0.398000										TCGA Ovarian(4;0.039)			10	207					0	0	1	0	0
LRPAP1	4043	broad.mit.edu	37	4	3519914	3519914	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:3519914G>A	ENST00000500728.2	-	5	744	c.598C>T	c.(598-600)Cac>Tac	p.H200Y	LRPAP1_ENST00000296325.5_5'UTR	NM_002337.3	NP_002328.1	P30533	AMRP_HUMAN	low density lipoprotein receptor-related protein associated protein 1	200					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		ACGTTCTCGTGGATTTCTGTA	0.597000													4	41					0	0	1	0	0
OR4A15	81328	broad.mit.edu	37	11	55135483	55135483	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:55135483C>T	ENST00000314706.3	+	1	124	c.124C>T	c.(124-126)Ctc>Ttc	p.L42F		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TGAATTTATCCTCTTAGGGCT	0.403000													5	78					0	0	1	0	0
GOLGB1	2804	broad.mit.edu	37	3	121413501	121413501	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:121413501C>T	ENST00000393667.3	-	13	5979	c.5869G>A	c.(5869-5871)Gag>Aag	p.E1957K	GOLGB1_ENST00000340645.5_Missense_Mutation_p.E1952K	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1952					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)		TCCAATAGCTCATTTTTTATT	0.358000													20	214					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45262531	45262531	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:45262531G>A	ENST00000303230.4	-	8	2222	c.2165C>T	c.(2164-2166)cCc>cTc	p.P722L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	722						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGAGGCGGTGGGGGAGGCATA	0.657000													13	43					0	0	1	0	0
PAH	5053	broad.mit.edu	37	12	103234250	103234250	+	Missense_Mutation	SNP	C	C	T	rs62644499		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:103234250C>T	ENST00000553106.1	-	12	1715	c.1243G>A	c.(1243-1245)Gac>Aac	p.D415N	PAH_ENST00000307000.2_Missense_Mutation_p.D410N	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	415			D -> N (in non-PKU HPA; haplotype 1).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GTGTATGGGTCGTAGCGAACT	0.463000													7	102					0	0	1	0	0
ACAN	176	broad.mit.edu	37	15	89401577	89401577	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:89401577G>A	ENST00000439576.2	+	12	6135	c.5761G>A	c.(5761-5763)Gca>Aca	p.A1921T	ACAN_ENST00000352105.7_Missense_Mutation_p.A1921T|ACAN_ENST00000561243.1_Missense_Mutation_p.A1921T|ACAN_ENST00000559004.1_Missense_Mutation_p.A1921T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1921					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)			GCCCTCGGGAGCATATTATGG	0.532000													11	77					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756420	94756420	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:94756420C>T	ENST00000554723.1	-	2	1049	c.631G>A	c.(631-633)Gat>Aat	p.D211N	SERPINA10_ENST00000261994.4_Missense_Mutation_p.D171N|SERPINA10_ENST00000554173.1_Missense_Mutation_p.D171N|SERPINA10_ENST00000393096.1_Missense_Mutation_p.D171N			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	171					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			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)		ACATCAAAATCCTTGTGGATG	0.498000													24	89					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179615431	179615431	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179615431C>A	ENST00000360870.5	-	46	11918	c.11696G>T	c.(11695-11697)aGa>aTa	p.R3899I	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9723							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)			CTTTTTTATTCTTTCACTAGC	0.348000													7	60					8.12818e-05	8.21233e-05	1	1	0
TRANK1	9881	broad.mit.edu	37	3	36897993	36897993	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:36897993G>A	ENST00000429976.2	-	12	3335	c.3088C>T	c.(3088-3090)Ctt>Ttt	p.L1030F	TRANK1_ENST00000428977.2_Missense_Mutation_p.L480F|TRANK1_ENST00000301807.6_Missense_Mutation_p.L480F			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1030					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						CGCCCAATAAGGATGATGGGC	0.552000													9	144					0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27688016	27688016	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:27688016C>T	ENST00000438700.3	-	4	1628	c.1511G>A	c.(1510-1512)gGg>gAg	p.G504E		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	504	SSD.				spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GCTCATAATCCCTGTATATAA	0.388000													12	137					0	0	1	0	0
DOCK2	1794	broad.mit.edu	37	5	169125406	169125406	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:169125406G>A	ENST00000256935.8	+	11	1088	c.1008G>A	c.(1006-1008)ggG>ggA	p.G336G		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	336					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATCAAGGGGAAAGCAGAGA	0.403000													5	62					0	0	1	0	0
KRT6B	3854	broad.mit.edu	37	12	52845835	52845835	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:52845835T>C	ENST00000252252.3	-	1	75	c.28A>G	c.(28-30)Agc>Ggc	p.S10G		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	10	Head.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CTGCTGTGGCTCCTGATGGTG	0.642000													5	49					0	0	1	0	0
ANO5	203859	broad.mit.edu	37	11	22301235	22301235	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:22301235G>A	ENST00000324559.8	+	22	2983	c.2666G>A	c.(2665-2667)gGa>gAa	p.G889E		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	889						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGAACTTGGGAATTAATTCT	0.363000													4	47					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56370573	56370573	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:56370573C>T	ENST00000301295.6	+	3	2236	c.1814C>T	c.(1813-1815)tCc>tTc	p.S605F	NLRP4_ENST00000346986.5_Missense_Mutation_p.S605F|NLRP4_ENST00000587891.1_Missense_Mutation_p.S530F	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	605							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)		CTCTGTTTTTCCGTTCAAAAT	0.413000													9	80					0	0	1	0	0
BRINP3	339479	broad.mit.edu	37	1	190067564	190067564	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:190067564G>A	ENST00000367462.3	-	8	2116	c.1885C>T	c.(1885-1887)Ctg>Ttg	p.L629L	FAM5C_ENST00000484105.1_5'UTR|FAM5C_ENST00000534846.1_Silent_p.L527L	NM_199051.1	NP_950252.1	Q76B58	FAM5C_HUMAN		629						extracellular region				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					CGACTTCTCAGGTAGATGTGT	0.453000													60	242					0	0	1	0	0
POLR1A	25885	broad.mit.edu	37	2	86266485	86266485	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:86266485G>A	ENST00000263857.6	-	26	4219	c.3841C>T	c.(3841-3843)Ctg>Ttg	p.L1281L	POLR1A_ENST00000409681.1_Silent_p.L1281L			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1281					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TGCTTCTTCAGGCTTTTCACT	0.552000													15	297					0	0	1	0	0
CD1A	909	broad.mit.edu	37	1	158224935	158224935	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:158224935G>A	ENST00000289429.5	+	2	653	c.120G>A	c.(118-120)tgG>tgA	p.W40*		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	40					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	ACCATTCCTGGAAACAAAATC	0.498000													21	88					0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47246973	47246973	+	Silent	SNP	C	C	T	rs148145494		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:47246973C>T	ENST00000300404.2	+	11	1643	c.1584C>T	c.(1582-1584)gaC>gaT	p.D528D	B4GALNT2_ENST00000393354.2_Silent_p.D468D|B4GALNT2_ENST00000504681.1_Silent_p.D442D	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	528					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CAGTGGTGGACTCAGAACTGG	0.532000													10	72					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25335155	25335155	+	RNA	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:25335155G>A	ENST00000546682.1	+	0	839				SNHG14_ENST00000384430.1_RNA|SNHG14_ENST00000553108.1_RNA|SNHG14_ENST00000549804.2_RNA	NR_003361.1																						TCGTCGAACTGAGGTCCAGCA	0.493000													49	209					0	0	1	0	0
SGK2	10110	broad.mit.edu	37	20	42204953	42204953	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:42204953C>T	ENST00000373100.1	+	12	1243	c.783C>T	c.(781-783)gcC>gcT	p.A261A	SGK2_ENST00000341458.4_Silent_p.A321A|SGK2_ENST00000426287.1_Silent_p.A287A|SGK2_ENST00000373092.3_Silent_p.A261A|SGK2_ENST00000373077.1_Silent_p.A260A|SGK2_ENST00000423407.3_Silent_p.A261A			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	321	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGTGGCCGCCTGTGACCTCC	0.597000													6	117					0	0	1	0	0
ZNF556	80032	broad.mit.edu	37	19	2877928	2877928	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:2877928C>T	ENST00000586426.1	+	4	1056	c.969C>T	c.(967-969)ttC>ttT	p.F323F	ZNF556_ENST00000307635.2_Silent_p.F324F			Q9HAH1	ZN556_HUMAN	zinc finger protein 556	324					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)		GGAAAGCATTCGGTTGGCCCT	0.532000													9	47					0	0	1	0	0
KCNH3	23416	broad.mit.edu	37	12	49943339	49943339	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:49943339C>T	ENST00000257981.6	+	9	1844	c.1584C>T	c.(1582-1584)caC>caT	p.H528H		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	528					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						TCCGCATCCACCGTATCCCCA	0.647000													5	63					0	0	1	0	0
MIR29B1	407024	broad.mit.edu	37	7	130561579	130561579	+	RNA	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:130561579G>A	ENST00000447430.1	+	0	156				MIR29A_ENST00000362111.2_RNA																							TCCTCTAAGGGGTCACAGAAG	0.438000													9	21					0	0	1	0	0
CLUH	23277	broad.mit.edu	37	17	2597496	2597496	+	Silent	SNP	G	G	A	rs11555440		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:2597496G>A	ENST00000570628.1	-	18	3000	c.2895C>T	c.(2893-2895)ttC>ttT	p.F965F	CLUH_ENST00000538975.1_Silent_p.F965F|CLUH_ENST00000575014.1_Silent_p.F898F|CLUH_ENST00000435359.1_Silent_p.F965F					clustered mitochondria (cluA/CLU1) homolog																		TGACCACGGGGAAGATGTTGA	0.642000													3	29					0	0	1	0	0
KIR2DL1	3802	broad.mit.edu	37	19	55284956	55284956	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:55284956C>T	ENST00000336077.6	+	3	282	c.242C>T	c.(241-243)tCc>tTc	p.S81F	KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.S81F	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	81	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)		GATGGGGTCTCCAAGGCCAAC	0.522000													17	243					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38592577	38592577	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:38592577G>A	ENST00000413689.1	-	28	5479	c.5286C>T	c.(5284-5286)atC>atT	p.I1762I	SCN5A_ENST00000425664.1_Silent_p.I1744I|SCN5A_ENST00000423572.2_Silent_p.I1761I|SCN5A_ENST00000414099.2_Silent_p.I1744I|SCN5A_ENST00000451551.2_Silent_p.I1708I|SCN5A_ENST00000333535.4_Silent_p.I1762I|SCN5A_ENST00000450102.2_Silent_p.I1708I|SCN5A_ENST00000449557.2_Silent_p.I1708I|SCN5A_ENST00000443581.1_Silent_p.I1761I|SCN5A_ENST00000455624.2_Silent_p.I1729I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1762					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)	TGTTGACCACGATGAGGAAGG	0.572000													22	114					0	0	1	0	0
CUZD1	50624	broad.mit.edu	37	10	124591857	124591857	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:124591857G>A	ENST00000368904.1	-	11	2710	c.1761C>T	c.(1759-1761)atC>atT	p.I587I	CUZD1_ENST00000392790.1_Silent_p.I587I|CUZD1_ENST00000545804.1_Silent_p.I587I			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	587					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)		GCCTCACTGTGATTGTCGCTA	0.433000													11	170					0	0	1	0	0
TKT	7086	broad.mit.edu	37	3	53265454	53265454	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:53265454G>A	ENST00000462138.1	-	7	949	c.861C>T	c.(859-861)acC>acT	p.T287T	TKT_ENST00000423525.2_Silent_p.T287T|TKT_ENST00000296289.6_Silent_p.T240T|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Silent_p.T295T			P29401	TKT_HUMAN	transketolase	287					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)	CCTGTGGAGGGGTTGCCAGGA	0.557000													13	69					0	0	1	0	0
GNPDA1	10007	broad.mit.edu	37	5	141391561	141391561	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:141391561C>A	ENST00000508177.1	-	1	798	c.40G>T	c.(40-42)Gag>Tag	p.E14*	GNPDA1_ENST00000542860.1_Nonsense_Mutation_p.E14*|GNPDA1_ENST00000311337.6_Nonsense_Mutation_p.E14*|GNPDA1_ENST00000458112.2_Nonsense_Mutation_p.E14*|GNPDA1_ENST00000503794.1_Nonsense_Mutation_p.E14*|GNPDA1_ENST00000513454.1_Nonsense_Mutation_p.E14*|GNPDA1_ENST00000500692.2_Nonsense_Mutation_p.E14*			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	14					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCCCACTCGCTCGCCTGA	0.542000											OREG0016880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	59					0.00909568	0.00913938	1	1	0
XIRP2	129446	broad.mit.edu	37	2	168106756	168106756	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:168106756G>A	ENST00000409195.1	+	9	8943	c.8854G>A	c.(8854-8856)Gaa>Aaa	p.E2952K	XIRP2_ENST00000295237.9_Missense_Mutation_p.E2952K|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E2730K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2777					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						GAGAAAACGTGAAGAACTGCA	0.378000													35	137					0	0	1	0	0
PADI4	23569	broad.mit.edu	37	1	17672605	17672605	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:17672605G>A	ENST00000375448.4	+	9	1044	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	AC004824.2_ENST00000602074.1_Intron	NM_012387.2	NP_036519.2	Q9UM07	PADI4_HUMAN	peptidyl arginine deiminase, type IV	340					chromatin modification|peptidyl-citrulline biosynthetic process from peptidyl-arginine|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(2)|urinary_tract(3)	26		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000338)|Lung NSC(340;0.00042)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00537)|BRCA - Breast invasive adenocarcinoma(304;8.54e-06)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(64;0.000223)|KIRC - Kidney renal clear cell carcinoma(64;0.00313)|STAD - Stomach adenocarcinoma(196;0.00707)|READ - Rectum adenocarcinoma(331;0.0689)|Lung(427;0.199)	L-Citrulline(DB00155)	CTGCCCTGAGGAGGAGAACAT	0.552000													6	47					0	0	1	0	0
ABCA12	26154	broad.mit.edu	37	2	215919341	215919341	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:215919341G>A	ENST00000272895.7	-	4	584	c.365C>T	c.(364-366)tCa>tTa	p.S122L		NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	122					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)		GCTCTGGAATGATAAACTGCT	0.393000													25	158					0	0	1	0	0
DLEC1	9940	broad.mit.edu	37	3	38087037	38087037	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:38087037C>T	ENST00000308059.6	+	2	436	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	DLEC1_ENST00000346219.3_Missense_Mutation_p.R139W|DLEC1_ENST00000452631.2_Missense_Mutation_p.R139W			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	139					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)		CTGCCAGATTCGGGAGCTCTA	0.493000													9	40					0	0	1	0	0
TMEM150C	441027	broad.mit.edu	37	4	83417246	83417246	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:83417246C>T	ENST00000449862.2	-	6	656	c.338G>A	c.(337-339)gGa>gAa	p.G113E	RP11-791G16.2_ENST00000488045.1_RNA|TMEM150C_ENST00000515780.1_Missense_Mutation_p.G113E|TMEM150C_ENST00000508701.1_Missense_Mutation_p.G113E	NM_001080506.1	NP_001073975.1	B9EJG8	T150C_HUMAN	transmembrane protein 150C	113						integral to membrane				ovary(1)	1						TAAGGTCATTCCGAAGGAAGC	0.443000													11	60					0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45699709	45699709	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:45699709G>A	ENST00000297323.7	+	7	1398	c.1376G>A	c.(1375-1377)gGa>gAa	p.G459E	ADCY1_ENST00000432715.1_Missense_Mutation_p.G234E	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	459					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.G459V(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)	CCGGGTTACGGACATGAGAGG	0.493000													19	82					0	0	1	0	0
AOC1	26	broad.mit.edu	37	7	150554207	150554207	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:150554207C>T	ENST00000493429.1	+	4	1233	c.649C>T	c.(649-651)Ctg>Ttg	p.L217L	AOC1_ENST00000467291.1_Silent_p.L217L|AOC1_ENST00000416793.2_Silent_p.L217L|AOC1_ENST00000360937.4_Silent_p.L217L					amine oxidase, copper containing 1																		CCCCACTGGGCTGGAGCTCCT	0.612000													28	85					0	0	1	0	0
PCDHA3	56145	broad.mit.edu	37	5	140183220	140183220	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140183220C>T	ENST00000532566.2	+	1	2438	c.2438C>T	c.(2437-2439)tCa>tTa	p.S813L	PCDHA2_ENST00000520672.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_031497.1	NP_113685.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGTTTTTCATTCCTCAAT	0.338000													4	30					0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13735936	13735936	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:13735936G>A	ENST00000265104.4	-	67	11665	c.11561C>T	c.(11560-11562)tCc>tTc	p.S3854F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3854					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)					CCTGGCTAAGGAAAGGTCAAA	0.443000									Kartagener syndrome				12	146					0	0	1	0	0
FCRL5	83416	broad.mit.edu	37	1	157509140	157509140	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:157509140G>A	ENST00000361835.3	-	7	1295	c.1138C>T	c.(1138-1140)Cct>Tct	p.P380S	FCRL5_ENST00000356953.4_Missense_Mutation_p.P380S|FCRL5_ENST00000368190.3_Missense_Mutation_p.P380S|FCRL5_ENST00000368191.3_Missense_Mutation_p.P295S|FCRL5_ENST00000368189.3_Missense_Mutation_p.P380S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	380	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TTGAGGACAGGATGAGACACG	0.463000													11	53					0	0	1	0	0
HAVCR2	84868	broad.mit.edu	37	5	156531714	156531714	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:156531714G>A	ENST00000307851.4	-	3	1171	c.441C>T	c.(439-441)gcC>gcT	p.A147A	HAVCR2_ENST00000522593.1_Intron	NM_032782.4	NP_116171.3	Q8TDQ0	HAVR2_HUMAN	hepatitis A virus cellular receptor 2	147						integral to membrane				cervix(1)|large_intestine(4)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCTTGGAAAGGCTGCAGTGA	0.478000													3	7					0	0	1	0	0
PBXIP1	57326	broad.mit.edu	37	1	154918536	154918536	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:154918536C>T	ENST00000368463.3	-	10	1685	c.1614G>A	c.(1612-1614)ccG>ccA	p.P538P	PBXIP1_ENST00000368465.1_Silent_p.P509P|PBXIP1_ENST00000542459.1_Silent_p.P383P|PBXIP1_ENST00000539880.1_Silent_p.P365P	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	538					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	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)			GGGGTTCCTTCGGGCCCTGTC	0.622000													11	220					0	0	1	0	0
NUAK2	81788	broad.mit.edu	37	1	205273504	205273504	+	Missense_Mutation	SNP	C	C	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:205273504C>A	ENST00000367157.3	-	7	1087	c.961G>T	c.(961-963)Ggg>Tgg	p.G321W		NM_030952.1	NP_112214.1	Q9H093	NUAK2_HUMAN	NUAK family, SNF1-like kinase, 2	321					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)			CCAGGGTGCCCACCCTCATGC	0.692000													4	38					0.014758	0.0147984	1	1	0
REV3L	5980	broad.mit.edu	37	6	111689103	111689103	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:111689103G>A	ENST00000435970.1	-	16	6470	c.5654C>T	c.(5653-5655)cCa>cTa	p.P1885L	REV3L_ENST00000358835.3_Missense_Mutation_p.P1963L|REV3L_ENST00000368802.3_Missense_Mutation_p.P1963L|REV3L_ENST00000368805.1_Missense_Mutation_p.P1963L			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1963	Mediates interaction with MAD2L2.				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CCCTGGCCTTGGATTCTGAGT	0.443000								DNA polymerases (catalytic subunits)					5	101					0	0	1	0	0
NAALADL2	254827	broad.mit.edu	37	3	175520866	175520866	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:175520866C>T	ENST00000454872.1	+	14	2391	c.2263C>T	c.(2263-2265)Ccc>Tcc	p.P755S		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	755					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)		ACACTGCAAACCCCTTGCATC	0.398000													10	42					0	0	1	0	0
THSD7B	80731	broad.mit.edu	37	2	138163226	138163226	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:138163226G>A	ENST00000409968.1	+	13	2722	c.2544G>A	c.(2542-2544)atG>atA	p.M848I	THSD7B_ENST00000272643.3_Missense_Mutation_p.M848I|THSD7B_ENST00000413152.2_Missense_Mutation_p.M817I|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											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)		CAGAAATGATGGAATGCCTCA	0.448000													7	50					0	0	1	0	0
CR2	1380	broad.mit.edu	37	1	207646948	207646948	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:207646948C>T	ENST00000367057.3	+	11	2226	c.2037C>T	c.(2035-2037)ttC>ttT	p.F679F	CR2_ENST00000367058.3_Intron|CR2_ENST00000367059.3_Intron|CR2_ENST00000458541.2_Intron	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	674	Sushi 11.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						ATACGGTCTTCTTTGTCTCTG	0.468000													8	136					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198725108	198725108	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:198725108A>G	ENST00000367376.2	+	33	3884	c.3713A>G	c.(3712-3714)aAc>aGc	p.N1238S	PTPRC_ENST00000352140.3_Missense_Mutation_p.N1190S|PTPRC_ENST00000442510.2_Missense_Mutation_p.N1240S|PTPRC_ENST00000348564.6_Missense_Mutation_p.N1079S|PTPRC_ENST00000594404.1_Missense_Mutation_p.N1077S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1238					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	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						AAGAAAAACAACCATCAAGAA	0.378000													24	75					0	0	1	0	0
SLC44A3	126969	broad.mit.edu	37	1	95303403	95303403	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:95303403C>T	ENST00000271227.6	+	6	748	c.646C>T	c.(646-648)Ctt>Ttt	p.L216F	SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000446120.2_Missense_Mutation_p.L180F|SLC44A3_ENST00000532427.1_Missense_Mutation_p.L136F|SLC44A3_ENST00000529450.1_Missense_Mutation_p.L184F|SLC44A3_ENST00000527077.1_Missense_Mutation_p.L148F|SLC44A3_ENST00000467909.1_Missense_Mutation_p.L168F|RP11-465K1.2_ENST00000422162.1_RNA	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	216						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	AGATACAATCCTTGGCCTGTG	0.373000													15	122					0	0	1	0	0
OR10G8	219869	broad.mit.edu	37	11	123900446	123900446	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:123900446G>A	ENST00000431524.1	+	1	150	c.117G>A	c.(115-117)ggG>ggA	p.G39G		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	39					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)		CTGTGCTGGGGAACCTCCTCA	0.562000													15	190					0	0	1	0	0
HIVEP3	59269	broad.mit.edu	37	1	42041223	42041223	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:42041223G>A	ENST00000372584.1	-	4	6213	c.5199C>T	c.(5197-5199)ttC>ttT	p.F1733F	HIVEP3_ENST00000429157.2_Silent_p.F1733F|HIVEP3_ENST00000372583.1_Silent_p.F1733F|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Silent_p.F1733F	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1733					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.F1733F(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)				ACCCTCCTTCGAAGATTTTGA	0.552000													30	279					0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21139336	21139336	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:21139336C>T	ENST00000377122.4	-	11	1500	c.1104G>A	c.(1102-1104)aaG>aaA	p.K368K	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	368					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						CACTTTGCATCTTTTGAGCCT	0.338000													5	75					0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126249523	126249523	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:126249523C>T	ENST00000339582.2	-	8	2195	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	GRM8_ENST00000480995.1_Intron|GRM8_ENST00000444921.2_Missense_Mutation_p.E463K|GRM8_ENST00000358373.3_Missense_Mutation_p.E463K|GRM8_ENST00000405249.1_Missense_Mutation_p.M486I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	463					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.E463K(1)		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)	TCTCCGTTTTCATTAAAAGTG	0.378000										HNSCC(24;0.065)			22	69					0	0	1	0	0
SYNJ2	8871	broad.mit.edu	37	6	158483101	158483101	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:158483101G>A	ENST00000355585.4	+	8	1107	c.1032G>A	c.(1030-1032)ggG>ggA	p.G344G	SYNJ2_ENST00000367121.3_Silent_p.G344G|SYNJ2_ENST00000449859.2_Silent_p.G272G|SYNJ2_ENST00000367122.2_Silent_p.G344G	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	344	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			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)		CCAAAGGTGGGAAGCTAGAGA	0.537000													32	257					0	0	1	0	0
AP3B1	8546	broad.mit.edu	37	5	77452119	77452119	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:77452119A>T	ENST00000255194.6	-	14	1611	c.1436T>A	c.(1435-1437)aTt>aAt	p.I479N	AP3B1_ENST00000519295.1_Missense_Mutation_p.I430N	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	479					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		ATGTTTAATAATTTCACCATG	0.299000									Hermansky-Pudlak syndrome				5	78					0	0	1	0	0
IGKV1-9	28941	broad.mit.edu	37	2	89309637	89309637	+	RNA	SNP	C	C	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:89309637C>G	ENST00000493819.1	-	0	250																											AGCTTAGGGGCTTTCCCTGGT	0.512000													13	246					0	0	1	0	0
CCT5	22948	broad.mit.edu	37	5	10258377	10258377	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:10258377A>G	ENST00000280326.4	+	5	1105	c.685A>G	c.(685-687)Att>Gtt	p.I229V	CCT5_ENST00000506600.1_Missense_Mutation_p.I136V|CCT5_ENST00000503026.1_Missense_Mutation_p.I208V|CCT5_ENST00000515676.1_Missense_Mutation_p.I191V|CCT5_ENST00000515390.1_Missense_Mutation_p.I174V	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	229					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						TAAGGGCGTGATTGTGGACAA	0.458000													9	64					0	0	1	0	0
FMO6P	388714	broad.mit.edu	37	1	171121294	171121294	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:171121294C>T	ENST00000236166.3	+	6	1183	c.1073C>T	c.(1072-1074)cCc>cTc	p.P358L																								GGCATCTTCCCCCCACTAATG	0.493000													3	11					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43490510	43490510	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:43490510G>A	ENST00000395891.1	+	12	3087	c.2482G>A	c.(2482-2484)Gat>Aat	p.D828N	HECW1_ENST00000453890.1_Intron	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	828					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCCAACAATCGATGAGCCTCT	0.423000													16	69					0	0	1	0	0
CMYA5	202333	broad.mit.edu	37	5	79027122	79027122	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:79027122C>T	ENST00000446378.2	+	2	2565	c.2534C>T	c.(2533-2535)tCc>tTc	p.S845F		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	845						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GGACCATCTTCCCCAGATTTG	0.468000													8	76					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101480466	101480466	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:101480466G>A	ENST00000392979.3	+	16	1821	c.1460G>A	c.(1459-1461)gGg>gAg	p.G487E	ANO4_ENST00000550015.1_Missense_Mutation_p.G42E|ANO4_ENST00000392977.3_Missense_Mutation_p.G522E|ANO4_ENST00000299222.9_Missense_Mutation_p.G42E	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	522						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						GCCGTGTTCGGGATCGTCATT	0.517000										HNSCC(74;0.22)			25	265					0	0	1	0	0
BBOX1	8424	broad.mit.edu	37	11	27078847	27078847	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:27078847G>A	ENST00000263182.3	+	4	687	c.319G>A	c.(319-321)Gaa>Aaa	p.E107K	BBOX1_ENST00000527505.1_3'UTR|BBOX1_ENST00000525090.1_Missense_Mutation_p.E107K|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000529202.1_Missense_Mutation_p.E107K|BBOX1_ENST00000528583.1_Missense_Mutation_p.E107K	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	107					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	GCTCCAAAGAGAATTGTTTTT	0.383000													5	80					0	0	1	0	0
MASP1	5648	broad.mit.edu	37	3	186974536	186974536	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:186974536C>T	ENST00000337774.5	-	5	1049	c.660G>A	c.(658-660)gaG>gaA	p.E220E	MASP1_ENST00000392470.2_Silent_p.E194E|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392472.2_Silent_p.E107E|MASP1_ENST00000296280.6_Silent_p.E220E|MASP1_ENST00000169293.6_Silent_p.E220E	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	220	CUB 2.|Interaction with FCN2.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CCATGAAACCCTCCTCCAGCT	0.512000													16	93					0	0	1	0	0
CNBD1	168975	broad.mit.edu	37	8	88249336	88249336	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:88249336C>T	ENST00000518476.1	+	6	818	c.767C>T	c.(766-768)tCa>tTa	p.S256L	CNBD1_ENST00000522427.1_3'UTR	NM_173538.2	NP_775809.1	Q8NA66	CNBD1_HUMAN	cyclic nucleotide binding domain containing 1	256										breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(4)|urinary_tract(1)	32						TCATATGACTCAATGGTAAGA	0.373000													4	60					0	0	1	0	0
ELOVL7	79993	broad.mit.edu	37	5	60083182	60083182	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:60083182C>T	ENST00000508821.1	-	3	357	c.43G>A	c.(43-45)Gat>Aat	p.D15N	ELOVL7_ENST00000505959.1_5'UTR|ELOVL7_ENST00000425382.1_Missense_Mutation_p.D15N|ELOVL7_ENST00000438340.1_Missense_Mutation_p.D15N	NM_024930.2	NP_079206.2	A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	15					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				ATCCAATTATCATAAAGATGC	0.358000													4	64					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	rs121913499		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								19	86					0	0	1	0	0
OR2A14	135941	broad.mit.edu	37	7	143827080	143827080	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:143827080G>A	ENST00000408899.2	+	1	930	c.875G>A	c.(874-876)aGg>aAg	p.R292K		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TATAGCCTAAGGAATGCAGAG	0.552000													49	231					0	0	1	0	0
AVP	551	broad.mit.edu	37	20	3065270	3065270	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:3065270G>A	ENST00000380293.3	-	1	100	c.51C>T	c.(49-51)tcC>tcT	p.S17S		NM_000490.4	NP_000481.2	P01185	NEU2_HUMAN	arginine vasopressin	17			S -> F (in ADNDI).		cell-cell signaling|ERK1 and ERK2 cascade|generation of precursor metabolites and energy|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|protein kinase C signaling cascade|sodium-independent organic anion transport|transmembrane transport|vasoconstriction|water transport	cytosol|soluble fraction	caspase inhibitor activity|neurohypophyseal hormone activity|protein kinase activity|signal transducer activity|V1A vasopressin receptor binding			central_nervous_system(1)|prostate(1)|skin(1)	3				COAD - Colon adenocarcinoma(99;0.00643)		AGCACGCGGAGGAGAAGGCCA	0.637000													11	177					0	0	1	0	0
C12orf40	283461	broad.mit.edu	37	12	40114710	40114710	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:40114710G>A	ENST00000324616.5	+	13	1770	c.1616G>A	c.(1615-1617)aGg>aAg	p.R539K		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	539										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TCAGGTGACAGGATTGTTAAA	0.323000													12	79					0	0	1	0	0
NRP1	8829	broad.mit.edu	37	10	33469010	33469010	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:33469010C>T	ENST00000265371.4	-	18	3291	c.2766G>A	c.(2764-2766)gaG>gaA	p.E922E	NRP1_ENST00000374867.2_Silent_p.E922E|NRP1_ENST00000395995.1_Silent_p.E905E			O14786	NRP1_HUMAN	neuropilin 1	922					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)	GCCTTCATGCCTCCGAATAAG	0.448000													21	235					0	0	1	0	0
DIDO1	11083	broad.mit.edu	37	20	61528239	61528239	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:61528239G>A	ENST00000266070.4	-	7	2023	c.1698C>T	c.(1696-1698)ctC>ctT	p.L566L	DIDO1_ENST00000395340.1_Silent_p.L566L|DIDO1_ENST00000395335.2_Silent_p.L566L|DIDO1_ENST00000395343.1_Silent_p.L566L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	566					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TCTTTGGCACGAGGTTTCTAG	0.572000													7	71					0	0	1	0	0
GLI3	2737	broad.mit.edu	37	7	42079802	42079802	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:42079802G>A	ENST00000395925.3	-	7	947	c.863C>T	c.(862-864)cCg>cTg	p.P288L	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	288					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TTTTCGGCTCGGCCTGGCTGA	0.473000									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				9	129					0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37508651	37508651	+	Silent	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:37508651A>G	ENST00000374660.1	+	40	4299	c.4200A>G	c.(4198-4200)ttA>ttG	p.L1400L	ANKRD30A_ENST00000361713.1_Silent_p.L1281L|ANKRD30A_ENST00000602533.1_Silent_p.L1281L			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1337						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						AACAGCAATTAGTTCATGCAC	0.333000													8	35					0	0	1	0	0
DUSP27	92235	broad.mit.edu	37	1	167097704	167097704	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:167097704T>A	ENST00000361200.2	+	6	3502	c.3336T>A	c.(3334-3336)ttT>ttA	p.F1112L	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000443333.1_Missense_Mutation_p.F1112L|DUSP27_ENST00000271385.5_Missense_Mutation_p.F1112L			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1112					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AAGGGAGGTTTGCATCTGGAC	0.512000													12	60					0	0	1	0	0
DSG4	147409	broad.mit.edu	37	18	28992934	28992934	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:28992934G>A	ENST00000359747.4	+	15	2585	c.2556G>A	c.(2554-2556)atG>atA	p.M852I	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.M833I|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	833					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.M833I(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AAAGCTGCATGGAAACTTTAG	0.433000													6	113					0	0	1	0	0
IGHV3-21	28444	broad.mit.edu	37	14	106692121	106692121	+	RNA	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:106692121C>T	ENST00000390607.2	-	0	82																											AGCCCCAGTTCCATGGTGAAT	0.502000													26	177					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103143606	103143606	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:103143606G>A	ENST00000428762.1	-	52	8505	c.8346C>T	c.(8344-8346)ttC>ttT	p.F2782F	RELN_ENST00000343529.5_Silent_p.F2782F|RELN_ENST00000424685.2_Silent_p.F2782F|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2782					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.F2782L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AACTCACACCGAAGTCAGTAG	0.408000													9	109					0	0	1	0	0
MAGEC1	9947	broad.mit.edu	37	X	140993630	140993630	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:140993630C>T	ENST00000285879.4	+	4	726	c.440C>T	c.(439-441)tCc>tTc	p.S147F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	147							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)					TTCCAGAGTTCCCCTGAGAGT	0.498000										HNSCC(15;0.026)			19	80					0	0	1	0	0
AMPD1	270	broad.mit.edu	37	1	115229436	115229436	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:115229436G>A	ENST00000369538.3	-	3	445	c.398C>T	c.(397-399)tCc>tTc	p.S133F	AMPD1_ENST00000353928.6_Missense_Mutation_p.S104F|AMPD1_ENST00000520113.2_Missense_Mutation_p.S137F	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	104					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		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)	Adenosine monophosphate(DB00131)	TGGAGATGAGGAAATGTATTC	0.463000													7	88					0	0	1	0	0
NCAN	1463	broad.mit.edu	37	19	19356173	19356173	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:19356173G>A	ENST00000252575.5	+	13	3587	c.3544G>A	c.(3544-3546)Gag>Aag	p.E1182K	NCAN_ENST00000538881.1_Missense_Mutation_p.E633K	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan	1182	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CGCGGGTGGCGAGGACTGTGT	0.572000													15	87					0	0	1	0	0
PCDHB13	56123	broad.mit.edu	37	5	140594419	140594419	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140594419G>A	ENST00000341948.4	+	1	911	c.724G>A	c.(724-726)Gaa>Aaa	p.E242K		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		242	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAATGCCCCTGAATTTGAGCA	0.527000													24	226					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40735440	40735440	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:40735440G>A	ENST00000373198.3	-	25	3677	c.3442C>T	c.(3442-3444)Ctg>Ttg	p.L1148L	PTPRT_ENST00000373201.1_Silent_p.L1116L|PTPRT_ENST00000373193.3_Silent_p.L1129L|PTPRT_ENST00000356100.2_Silent_p.L1135L|PTPRT_ENST00000373184.1_Silent_p.L1136L|PTPRT_ENST00000373190.1_Silent_p.L1125L|PTPRT_ENST00000373187.1_Silent_p.L1126L	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1126					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)				GTCTGTACCAGGTTGACCCTT	0.542000													12	144					0	0	1	0	0
OVGP1	5016	broad.mit.edu	37	1	111957472	111957472	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:111957472G>A	ENST00000369732.3	-	11	1706	c.1651C>T	c.(1651-1653)Cat>Tat	p.H551Y		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	551					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)		GTCTGAAAATGGACAGGGGTC	0.547000													8	132					0	0	1	0	0
UNC13C	440279	broad.mit.edu	37	15	54305384	54305384	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:54305384G>A	ENST00000545554.1	+	1	284	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	UNC13C_ENST00000537900.1_Missense_Mutation_p.R95Q|UNC13C_ENST00000260323.11_Missense_Mutation_p.R95Q			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	95					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTCAGTTACCGAGTAGCTATT	0.423000													10	48					0	0	1	0	0
OR6C3	254786	broad.mit.edu	37	12	55725806	55725806	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:55725806G>A	ENST00000379667.1	+	1	322	c.322G>A	c.(322-324)Gaa>Aaa	p.E108K		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GGGGGTGACTGAATTTTACAT	0.428000													29	169					0	0	1	0	0
POU5F2	134187	broad.mit.edu	37	5	93076586	93076586	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:93076586G>A	ENST00000510627.4	-	1	757	c.684C>T	c.(682-684)ttC>ttT	p.F228F	FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509163.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	228						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-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;0.0415)|all cancers(79;2.03e-19)		ACCGCTGGAAGAATTTCTCCA	0.537000													9	40					0	0	1	0	0
ST6GALNAC1	55808	broad.mit.edu	37	17	74623617	74623617	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:74623617G>A	ENST00000156626.7	-	3	1079	c.880C>T	c.(880-882)Cag>Tag	p.Q294*	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	294					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						AAGAGTTTCTGGAGCCACAGC	0.537000													9	117					0	0	1	0	0
DCSTAMP	81501	broad.mit.edu	37	8	105361650	105361650	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:105361650G>A	ENST00000297581.2	+	2	919	c.870G>A	c.(868-870)agG>agA	p.R290R	DPYS_ENST00000521601.1_Intron|DCSTAMP_ENST00000517991.1_Intron	NM_030788.3	NP_110415.1	Q9H295	TM7S4_HUMAN	dendrocyte expressed seven transmembrane protein	290					osteoclast differentiation	cell surface|integral to membrane|plasma membrane											CTAAAGAAAGGAAAAACCTGG	0.493000													29	171					0	0	1	0	0
OR4K2	390431	broad.mit.edu	37	14	20344704	20344704	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:20344704C>T	ENST00000298642.2	+	1	314	c.278C>T	c.(277-279)tCt>tTt	p.S93F		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S93F(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)		AAAACCATCTCTTTTGATGGC	0.393000													20	216					0	0	1	0	0
RNF214	257160	broad.mit.edu	37	11	117109436	117109436	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:117109436C>T	ENST00000531452.1	+	3	273	c.227C>T	c.(226-228)tCa>tTa	p.S76L	RNF214_ENST00000531287.1_Intron|RNF214_ENST00000300650.4_Missense_Mutation_p.S76L|RNF214_ENST00000530849.1_Intron	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	76							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	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;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		AATCCTGGTTCATCAGCAGGT	0.473000													13	259					0	0	1	0	0
OR2W5	441932	broad.mit.edu	37	1	247655309	247655309	+	RNA	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:247655309G>A	ENST00000522351.1	+	0	940							A6NFC9	OR2W5_HUMAN							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)			ACACTTTGAGGAACAAGGATG	0.522000													20	136					0	0	1	0	0
COL1A2	1278	broad.mit.edu	37	7	94056320	94056320	+	Splice_Site	SNP	G	G	A	rs72659325		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:94056320G>A	ENST00000297268.6	+	47	3577	c.3105_splice	c.e47-1	p.G1036_splice		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1036					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GTCTTTAAAGGGTCACCATGG	0.418000										HNSCC(75;0.22)			6	39					0	0	1	0	0
OR2H2	7932	broad.mit.edu	37	6	29555739	29555739	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:29555739C>T	ENST00000383640.2	+	1	57	c.18C>T	c.(16-18)tcC>tcT	p.S6S	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	6					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						ACCAAAGCTCCACACCGGGCT	0.532000													7	152					0	0	1	0	0
GRIK1	2897	broad.mit.edu	37	21	31045329	31045329	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr21:31045329C>T	ENST00000399914.1	-	4	1221	c.700G>A	c.(700-702)Gaa>Aaa	p.E234K	GRIK1_ENST00000309434.7_Missense_Mutation_p.E234K|GRIK1_ENST00000535441.1_Missense_Mutation_p.E234K|GRIK1_ENST00000389124.2_Missense_Mutation_p.E234K|GRIK1_ENST00000399907.1_Missense_Mutation_p.E234K|GRIK1_ENST00000327783.4_Missense_Mutation_p.E234K|GRIK1_ENST00000389125.3_Missense_Mutation_p.E234K|GRIK1_ENST00000399913.1_Missense_Mutation_p.E234K|GRIK1_ENST00000399909.1_Missense_Mutation_p.E234K|GRIK1_ENST00000472429.1_5'UTR			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	234					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GCGGCTGTTTCATGTGAACAA	0.423000													12	229					0	0	1	0	0
CBX2	84733	broad.mit.edu	37	17	77757718	77757718	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:77757718C>T	ENST00000310942.4	+	5	580	c.476C>T	c.(475-477)cCc>cTc	p.P159L		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	159					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTGAAGGATCCCATCCGGAAG	0.637000													4	49					0	0	1	0	0
SFXN1	94081	broad.mit.edu	37	5	174936156	174936156	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:174936156C>T	ENST00000321442.5	+	3	540	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	SFXN1_ENST00000502393.1_Nonsense_Mutation_p.Q96*	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	96					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			AATGTCAGCCCAGGTTCCCAT	0.383000													14	177					0	0	1	0	0
PLCZ1	89869	broad.mit.edu	37	12	18847964	18847964	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:18847964C>T	ENST00000447925.2	-	12	1604	c.1335G>A	c.(1333-1335)ggG>ggA	p.G445G	PLCZ1_ENST00000541695.1_Silent_p.G310G|PLCZ1_ENST00000266505.7_Silent_p.G447G|PLCZ1_ENST00000538330.1_Silent_p.G229G|PLCZ1_ENST00000534932.1_5'UTR|PLCZ1_ENST00000539875.1_Silent_p.G254G|PLCZ1_ENST00000435379.1_Silent_p.G252G	NM_033123.2	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	447	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CCAAAAATTTCCCATTTTGCA	0.348000													10	74					0	0	1	0	0
ZSCAN5A	79149	broad.mit.edu	37	19	56733256	56733256	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:56733256G>A	ENST00000587340.1	-	7	1874	c.1179C>T	c.(1177-1179)ttC>ttT	p.F393F	ZSCAN5A_ENST00000587492.1_Silent_p.F247F|ZSCAN5A_ENST00000254165.3_Silent_p.F276F|ZSCAN5A_ENST00000592355.1_Silent_p.F392F|ZSCAN5A_ENST00000391713.1_Silent_p.F393F			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	393					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F393L(1)		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						TAAGCTGCATGAAGCGCTTCC	0.502000													4	42					0	0	1	0	0
GPR112	139378	broad.mit.edu	37	X	135427354	135427354	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:135427354G>A	ENST00000394143.1	+	6	1780	c.1489G>A	c.(1489-1491)Gat>Aat	p.D497N	GPR112_ENST00000370652.1_Missense_Mutation_p.D497N|GPR112_ENST00000412101.1_Missense_Mutation_p.D292N|GPR112_ENST00000394141.1_Missense_Mutation_p.D292N|GPR112_ENST00000287534.4_Missense_Mutation_p.D434N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	497					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)					GGCAACAACTGATATGAAAAT	0.448000													12	54					0	0	1	0	0
SCAND3	114821	broad.mit.edu	37	6	28543634	28543634	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:28543634C>T	ENST00000452236.2	-	3	1465	c.848G>A	c.(847-849)gGa>gAa	p.G283E		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	283					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						CTTCTCATTTCCTTGTACAAG	0.378000													10	199					0	0	1	0	0
SNHG14	104472715	broad.mit.edu	37	15	25424235	25424235	+	RNA	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:25424235C>T	ENST00000441592.2	+	0	424																											CAGGGGGACCCCTGGCCTTAA	0.612000													4	13					0	0	1	0	0
NLRP8	126205	broad.mit.edu	37	19	56499274	56499274	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:56499274C>T	ENST00000291971.3	+	10	3213	c.3142C>T	c.(3142-3144)Cct>Tct	p.P1048S	NLRP8_ENST00000590542.1_Missense_Mutation_p.P1029S	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	1048						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCAGATTAATCCTTAGGCCGT	0.493000													7	50					0	0	1	0	0
COL6A6	131873	broad.mit.edu	37	3	130285586	130285586	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:130285586C>T	ENST00000358511.6	+	4	1354	c.1323C>T	c.(1321-1323)atC>atT	p.I441I	COL6A6_ENST00000453409.2_Silent_p.I441I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	441	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ATCTGCTTATCGATGGCTCAG	0.473000													5	69					0	0	1	0	0
KMT2D	8085	broad.mit.edu	37	12	49433792	49433792	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:49433792G>A	ENST00000301067.7	-	31	7760	c.7761C>T	c.(7759-7761)ttC>ttT	p.F2587F		NM_003482.3	NP_003473.3			lysine (K)-specific methyltransferase 2D																		CCGATGGGTGGAAGTTCCCTG	0.652000													4	30					0	0	1	0	0
MACC1	346389	broad.mit.edu	37	7	20198606	20198606	+	Silent	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:20198606A>G	ENST00000400331.5	-	5	1686	c.1378T>C	c.(1378-1380)Ttg>Ctg	p.L460L	MACC1_ENST00000589011.1_Silent_p.L460L|MACC1_ENST00000332878.4_Silent_p.L460L	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	460					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						CCTGCTTCCAACTGCTTTTGT	0.348000													5	86					0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037393	75037393	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:75037393C>T	ENST00000326665.5	-	14	4219	c.4001G>A	c.(4000-4002)gGa>gAa	p.G1334E	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1334	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						AACCCTTCCTCCTCCCATGCC	0.572000													15	133					0	0	1	0	0
AGBL1	123624	broad.mit.edu	37	15	86838568	86838568	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:86838568G>A	ENST00000441037.2	+	16	2260	c.2165G>A	c.(2164-2166)gGg>gAg	p.G722E	AGBL1_ENST00000421325.2_Missense_Mutation_p.G722E|AGBL1_ENST00000389298.3_Missense_Mutation_p.G453E	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	722					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						ACGCTGGGAGGGAATCCGTGT	0.502000													7	98					0	0	1	0	0
ARPP21	10777	broad.mit.edu	37	3	35771020	35771020	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:35771020C>T	ENST00000187397.4	+	15	1907	c.1451C>T	c.(1450-1452)cCa>cTa	p.P484L	ARPP21_ENST00000337271.5_Missense_Mutation_p.P430L|ARPP21_ENST00000458225.1_Missense_Mutation_p.P450L|ARPP21_ENST00000444190.1_Missense_Mutation_p.P430L|ARPP21_ENST00000417925.1_Missense_Mutation_p.P450L	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	484						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CTTCTTAATCCACACACAGGT	0.463000													10	66					0	0	1	0	0
XYLB	9942	broad.mit.edu	37	3	38411589	38411589	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:38411589C>T	ENST00000207870.3	+	9	779	c.689C>T	c.(688-690)tCc>tTc	p.S230F	XYLB_ENST00000542835.1_Missense_Mutation_p.S93F	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	230					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		AAAGTCTGGTCCCAGGCTTGC	0.453000													36	158					0	0	1	0	0
CCDC88C	440193	broad.mit.edu	37	14	91791183	91791183	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:91791183C>T	ENST00000389857.6	-	12	1368	c.1282G>A	c.(1282-1284)Gaa>Aaa	p.E428K		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	428					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain 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)				TGGGCAGATTCGTTCATGCTC	0.572000													7	89					0	0	1	0	0
OR2A12	346525	broad.mit.edu	37	7	143792860	143792860	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:143792860C>T	ENST00000408949.2	+	1	720	c.660C>T	c.(658-660)atC>atT	p.I220I		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					ACTTGCACATCCTGGTGGCCA	0.597000													19	294					0	0	1	0	0
NPAP1	23742	broad.mit.edu	37	15	24923710	24923710	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:24923710C>T	ENST00000329468.2	+	1	3170	c.2696C>T	c.(2695-2697)tCc>tTc	p.S899F		NM_018958.2	NP_061831.2			nuclear pore associated protein 1																		ATCTCTCATTCCACACTTGGG	0.493000													13	200					0	0	1	0	0
UGT1A9	54600	broad.mit.edu	37	2	234581109	234581109	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:234581109C>T	ENST00000354728.4	+	1	611	c.529C>T	c.(529-531)Ctt>Ttt	p.L177F	UGT1A10_ENST00000373445.1_Intron|UGT1A8_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron	NM_021027.2	NP_066307.1														breast(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	37		Breast(86;0.000766)|all_lung(227;0.00269)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0331)|Lung NSC(271;0.0459)|Lung SC(224;0.128)		Epithelial(121;1.26e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000436)|Lung(119;0.00347)|LUSC - Lung squamous cell carcinoma(224;0.00757)		TTGCCACTATCTTGAAGAAGG	0.478000													16	279					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28934602	28934602	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:28934602C>T	ENST00000257192.4	+	15	2655	c.2443C>T	c.(2443-2445)Ccc>Tcc	p.P815S	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.P174S|RP11-534N16.1_ENST00000578477.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	815					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			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)			GAGCACCTATCCCTCGGGACC	0.512000													13	174					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16271392	16271392	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:16271392G>A	ENST00000205557.7	-	19	2536	c.2507C>T	c.(2506-2508)tCc>tTc	p.S836F		NM_001171.5	NP_001162.4	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	836	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CTCCTGGTAGGAACCCATCTC	0.577000													21	90					0	0	1	0	0
ZNF557	79230	broad.mit.edu	37	19	7083460	7083460	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:7083460C>T	ENST00000414706.1	+	8	1471	c.998C>T	c.(997-999)tCg>tTg	p.S333L	ZNF557_ENST00000439035.2_Missense_Mutation_p.S326L|ZNF557_ENST00000252840.6_Missense_Mutation_p.S333L	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		AGGAGGAGGTCGAATCTGACA	0.448000													15	111					0	0	1	0	0
ATP12A	479	broad.mit.edu	37	13	25284954	25284954	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr13:25284954C>T	ENST00000218548.6	+	21	3273	c.2940C>T	c.(2938-2940)atC>atT	p.I980I	ATP12A_ENST00000381946.3_Silent_p.I974I	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	974					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			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)	GGGTGGGGATCACCTCACAGA	0.493000													7	52					0	0	1	0	0
ACTBL2	345651	broad.mit.edu	37	5	56777623	56777623	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:56777623G>A	ENST00000423391.1	-	1	1013	c.912C>T	c.(910-912)agC>agT	p.S304S	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	304						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)		GGTACATGGTGCTCCCTCCAG	0.493000													9	97					0	0	1	0	0
ABLIM1	3983	broad.mit.edu	37	10	116331079	116331079	+	Missense_Mutation	SNP	G	G	A	rs142175534	byFrequency	TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:116331079G>A	ENST00000369252.4	-	4	771	c.470C>T	c.(469-471)cCg>cTg	p.P157L	ABLIM1_ENST00000277895.5_Missense_Mutation_p.P217L|ABLIM1_ENST00000533213.2_Missense_Mutation_p.P157L	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	217	LIM zinc-binding 2.				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)		GGTTTCTTTCGGACTGGACGA	0.552000													4	57					0	0	1	0	0
AP1B1	162	broad.mit.edu	37	22	29759031	29759031	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:29759031C>T	ENST00000357586.2	-	3	288	c.102G>A	c.(100-102)gtG>gtA	p.V34V	AP1B1_ENST00000317368.7_Silent_p.V34V|AP1B1_ENST00000402502.1_Silent_p.V34V|AP1B1_ENST00000356015.2_Silent_p.V34V|AP1B1_ENST00000432560.2_Silent_p.V34V|AP1B1_ENST00000415447.1_Intron|AP1B1_ENST00000405198.1_Silent_p.V34V	NM_001127.3	NP_001118.3	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	34					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCACTTTCTTCACTGCCTCCT	0.532000													10	180					0	0	1	0	0
PARP8	79668	broad.mit.edu	37	5	50090899	50090899	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:50090899C>T	ENST00000281631.5	+	12	1234	c.1076C>T	c.(1075-1077)tCg>tTg	p.S359L	PARP8_ENST00000514342.2_Missense_Mutation_p.S112L|PARP8_ENST00000514067.2_Missense_Mutation_p.S359L|PARP8_ENST00000505697.2_Missense_Mutation_p.S359L|PARP8_ENST00000505554.1_Missense_Mutation_p.S338L|PARP8_ENST00000503750.2_Missense_Mutation_p.S359L|PARP8_ENST00000511363.2_3'UTR	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	359						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GCAATTAAATCGCACAAACTT	0.488000													7	125					0	0	1	0	0
CIAO1	9391	broad.mit.edu	37	2	96933387	96933387	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:96933387G>A	ENST00000488633.1	+	3	532	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	CIAO1_ENST00000469320.1_3'UTR	NM_004804.2	NP_004795.1	O76071	CIAO1_HUMAN	cytosolic iron-sulfur protein assembly 1	105					chromosome segregation|iron-sulfur cluster assembly|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter	MMXD complex	protein binding			endometrium(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	5						CGAGGGCCATGAAAATGAGGT	0.542000													8	63					0	0	1	0	0
IGLV2-23	28813	broad.mit.edu	37	22	23040804	23040804	+	RNA	SNP	T	T	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr22:23040804T>G	ENST00000390306.2	+	0	414																											ATCGCTTCTCTGGCTCCAAGT	0.532000													29	268					0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488582	108488582	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:108488582G>A	ENST00000408999.3	+	20	4199	c.4122G>A	c.(4120-4122)tgG>tgA	p.W1374*	RGPD4_ENST00000354986.4_Nonsense_Mutation_p.W1374*	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1374	RanBD1 2.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TTGGTCAATGGAAAGAAAGGG	0.353000													22	268					0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40735547	40735547	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:40735547C>T	ENST00000373198.3	-	25	3570	c.3335G>A	c.(3334-3336)cGg>cAg	p.R1112Q	PTPRT_ENST00000373201.1_Missense_Mutation_p.R1080Q|PTPRT_ENST00000373193.3_Missense_Mutation_p.R1093Q|PTPRT_ENST00000356100.2_Missense_Mutation_p.R1099Q|PTPRT_ENST00000373184.1_Missense_Mutation_p.R1100Q|PTPRT_ENST00000373190.1_Missense_Mutation_p.R1089Q|PTPRT_ENST00000373187.1_Missense_Mutation_p.R1090Q	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1090	Tyrosine-protein phosphatase 1.				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)				GCAGCCAGTCCGCCCAGCCCC	0.587000													11	98					0	0	1	0	0
ATP2B3	492	broad.mit.edu	37	X	152845447	152845447	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chrX:152845447G>A	ENST00000370186.1	+	21	3792	c.3466G>A	c.(3466-3468)Gaa>Aaa	p.E1156K	ATP2B3_ENST00000370181.2_Missense_Mutation_p.E1156K|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E1170K|ATP2B3_ENST00000349466.2_Silent_p.V1118V|ATP2B3_ENST00000263519.4_Silent_p.V1118V			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	0					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCGGGTGGTGAAAGCGTTCC	0.557000													15	78					0	0	1	0	0
C11orf63	79864	broad.mit.edu	37	11	122756683	122756683	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:122756683C>T	ENST00000227349.2	+	2	423	c.126C>T	c.(124-126)tcC>tcT	p.S42S	C11orf63_ENST00000307257.6_Silent_p.S42S|C11orf63_ENST00000531316.1_Silent_p.S42S	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	42								p.S42S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		CAAAAGACTCCTTGGAATCTG	0.453000													8	113					0	0	1	0	0
IRAK3	11213	broad.mit.edu	37	12	66639027	66639027	+	Missense_Mutation	SNP	A	A	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:66639027A>C	ENST00000261233.4	+	11	1720	c.1299A>C	c.(1297-1299)agA>agC	p.R433S	IRAK3_ENST00000457197.2_Missense_Mutation_p.R372S	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	433	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		CAAAGTTAAGACCATCAATGG	0.423000													9	143					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128478854	128478854	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:128478854G>A	ENST00000325888.8	+	8	1669	c.1408G>A	c.(1408-1410)Gaa>Aaa	p.E470K	FLNC_ENST00000346177.6_Missense_Mutation_p.E470K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	470					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						CCATGTGTCGGAAGGTAAGGG	0.642000													13	90					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55955448	55955448	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:55955448C>T	ENST00000373965.2	-	11	1694	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K	PCDH15_ENST00000395430.1_Missense_Mutation_p.E434K|PCDH15_ENST00000373955.1_Missense_Mutation_p.E434K|PCDH15_ENST00000395432.2_Missense_Mutation_p.E397K|PCDH15_ENST00000414778.1_Missense_Mutation_p.E439K|PCDH15_ENST00000395446.1_Missense_Mutation_p.E434K|PCDH15_ENST00000373957.3_Missense_Mutation_p.E412K|PCDH15_ENST00000361849.3_Missense_Mutation_p.E434K|PCDH15_ENST00000437009.1_Missense_Mutation_p.E434K|PCDH15_ENST00000395440.1_Missense_Mutation_p.E434K|PCDH15_ENST00000395438.1_Missense_Mutation_p.E434K|PCDH15_ENST00000409834.1_Missense_Mutation_p.E38K|PCDH15_ENST00000320301.6_Missense_Mutation_p.E434K|PCDH15_ENST00000395433.1_Missense_Mutation_p.E412K|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.E434K	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	434	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			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)				CTTACATCTTCTATGTCCTTG	0.373000										HNSCC(58;0.16)			6	67					0	0	1	0	0
PAK7	57144	broad.mit.edu	37	20	9520177	9520177	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:9520177G>A	ENST00000378429.3	-	11	2638	c.2092C>T	c.(2092-2094)Cca>Tca	p.P698S	PAK7_ENST00000378423.1_Missense_Mutation_p.P698S|PAK7_ENST00000353224.5_Missense_Mutation_p.P698S	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	698	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)			TTTAAGAATGGATGTCCGAGG	0.512000													29	211					0	0	1	0	0
C16orf54	283897	broad.mit.edu	37	16	29755617	29755617	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:29755617C>T	ENST00000329410.3	-	2	751	c.656G>A	c.(655-657)cGg>cAg	p.R219Q		NM_175900.3	NP_787096.2	Q6UWD8	CP054_HUMAN	chromosome 16 open reading frame 54	219						integral to membrane				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						CACACTGGTCCGGCCTTCACG	0.652000													4	24					0	0	1	0	0
S100PBP	64766	broad.mit.edu	37	1	33292228	33292228	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:33292228C>T	ENST00000373475.5	+	3	782	c.528C>T	c.(526-528)tcC>tcT	p.S176S	S100PBP_ENST00000373476.1_Silent_p.S176S|S100PBP_ENST00000398243.3_Silent_p.S176S|S100PBP_ENST00000356689.3_3'UTR	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	176						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AACTCTCTTCCCTTGGAGAAG	0.418000													8	99					0	0	1	0	0
SERPINA10	51156	broad.mit.edu	37	14	94756607	94756607	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:94756607G>A	ENST00000554723.1	-	2	862	c.444C>T	c.(442-444)gcC>gcT	p.A148A	SERPINA10_ENST00000261994.4_Silent_p.A108A|SERPINA10_ENST00000554173.1_Silent_p.A108A|SERPINA10_ENST00000393096.1_Silent_p.A108A			Q9UK55	ZPI_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10	108					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			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)		AGCCTGTCATGGCCAAGGACA	0.577000													4	66					0	0	1	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79768610	79768610	+	Missense_Mutation	SNP	C	C	T	rs139589180	byFrequency	TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:79768610C>T	ENST00000338008.5	+	15	4235	c.4055C>T	c.(4054-4056)aCc>aTc	p.T1352I	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.T1352I|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.T1352I	NM_014733.3	NP_055548.3	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	1352					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		ACTCCAGAGACCATGAATGGC	0.373000													6	68					0	0	1	0	0
TMEM132B	114795	broad.mit.edu	37	12	125834065	125834065	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:125834065G>A	ENST00000299308.3	+	2	128	c.120G>A	c.(118-120)acG>acA	p.T40T	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	40						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)		ACCTCCCCACGAACTTGCACA	0.502000													14	142					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139149473	139149473	+	Missense_Mutation	SNP	A	A	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:139149473A>G	ENST00000395297.1	-	19	4102	c.3932T>C	c.(3931-3933)gTt>gCt	p.V1311A		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1311										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)			GGGAGAAGCAACCAGCACGAC	0.418000										HNSCC(54;0.14)			9	119					0	0	1	0	0
SLITRK3	22865	broad.mit.edu	37	3	164907576	164907576	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:164907576G>A	ENST00000475390.1	-	2	1486	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F	SLITRK3_ENST00000241274.3_Missense_Mutation_p.S348F			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	348						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TAAAGCTTGGGAGGTGGAGGG	0.488000										HNSCC(40;0.11)			22	285					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49699035	49699035	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:49699035C>T	ENST00000296452.4	+	6	9871	c.9757C>T	c.(9757-9759)Cgg>Tgg	p.R3253W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3253					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)		TGATAGCCAACGGCTGGAGCC	0.582000													18	150					0	0	1	0	0
HRC	3270	broad.mit.edu	37	19	49657444	49657444	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:49657444C>T	ENST00000252825.4	-	1	1237	c.1051G>A	c.(1051-1053)Gag>Aag	p.E351K	HRC_ENST00000595625.1_Missense_Mutation_p.E351K	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	351	4 X tandem repeats, acidic.				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)		TCTTCTTCCTCGTCTCTGTGG	0.552000													9	89					0	0	1	0	0
ZDHHC19	131540	broad.mit.edu	37	3	195925225	195925225	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:195925225G>A	ENST00000296326.3	-	7	950	c.871C>T	c.(871-873)Ccc>Tcc	p.P291S		NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	291						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GGGGCTGGGGGGTTGAGAGCA	0.627000													6	44					0	0	1	0	0
GIMAP5	55340	broad.mit.edu	37	7	150440128	150440128	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:150440128C>T	ENST00000358647.3	+	3	1268	c.901C>T	c.(901-903)Ctg>Ttg	p.L301L	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATTATTTTTCTGTTCATCTT	0.363000													7	52					0	0	1	0	0
ISLR2	57611	broad.mit.edu	37	15	74426768	74426768	+	Missense_Mutation	SNP	T	T	G			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:74426768T>G	ENST00000361742.3	+	4	2442	c.1673T>G	c.(1672-1674)cTg>cGg	p.L558R	ISLR2_ENST00000435464.1_Missense_Mutation_p.L558R|ISLR2_ENST00000565540.1_Missense_Mutation_p.L558R|ISLR2_ENST00000565159.1_Missense_Mutation_p.L558R|ISLR2_ENST00000419208.1_Missense_Mutation_p.L558R|ISLR2_ENST00000445793.1_Missense_Mutation_p.L558R|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Missense_Mutation_p.L558R	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	558					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						TTCCGCGGCCTGCGGCCGGGT	0.672000													3	17					0	0	1	0	0
RBM22	55696	broad.mit.edu	37	5	150071405	150071405	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:150071405G>A	ENST00000199814.4	-	11	1292	c.1171C>T	c.(1171-1173)Cct>Tct	p.P391S	RBM22_ENST00000540000.1_Missense_Mutation_p.P342S|RBM22_ENST00000447771.2_Missense_Mutation_p.P342S	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	391	Pro-rich.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGAAAGGAGGGGGTGGTCCC	0.522000													6	103					0	0	1	0	0
ASPRV1	151516	broad.mit.edu	37	2	70187962	70187962	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:70187962C>T	ENST00000320256.4	-	1	1435	c.859G>A	c.(859-861)Gat>Aat	p.D287N		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	287	Peptidase A2.				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						TGGAGCACATCAGTGCCAATG	0.572000													17	176					0	0	1	0	0
EVPL	2125	broad.mit.edu	37	17	74004580	74004580	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:74004580G>A	ENST00000301607.3	-	22	4959	c.4706C>T	c.(4705-4707)aCg>aTg	p.T1569M	EVPL_ENST00000586740.1_Missense_Mutation_p.T1591M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1569	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						TCTCCCCAGCGTCTCGGCCCG	0.746000													4	26					0	0	1	0	0
ARAP3	64411	broad.mit.edu	37	5	141046037	141046037	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:141046037G>A	ENST00000239440.4	-	17	2591	c.2526C>T	c.(2524-2526)ccC>ccT	p.P842P	ARAP3_ENST00000513878.1_Silent_p.P504P|ARAP3_ENST00000508305.1_Silent_p.P744P|ARAP3_ENST00000512390.1_5'UTR	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	842					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|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|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|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						CAGGGGCTGGGGGGCCTGGGC	0.672000													3	16					0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140475181	140475181	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:140475181G>A	ENST00000194155.4	+	1	955	c.807G>A	c.(805-807)agG>agA	p.R269R		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		269	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCTGCCAGGGATTTAGACA	0.468000													6	86					0	0	1	0	0
E2F5	1875	broad.mit.edu	37	8	86121519	86121519	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:86121519C>T	ENST00000418930.2	+	6	954	c.758C>T	c.(757-759)tCc>tTc	p.S253F	E2F5_ENST00000256117.5_Missense_Mutation_p.S254F|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_Missense_Mutation_p.S80F|E2F5_ENST00000517476.1_Missense_Mutation_p.S92F|E2F5_ENST00000416274.2_Missense_Mutation_p.S253F			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	253					G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						ACACAGCCTTCCTCCCAGTCC	0.498000													25	70					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14536371	14536371	+	RNA	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:14536371G>A	ENST00000273083.3	-	0	3014							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CTGTCGAAGGGCTGGAGGCCT	0.597000													3	26					0	0	1	0	0
IGKV1-8	28942	broad.mit.edu	37	2	89292166	89292166	+	RNA	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:89292166C>T	ENST00000495489.1	-	0	159																											GACTCTGTCTCCTGTAGATGC	0.458000													28	204					0	0	1	0	0
GPR139	124274	broad.mit.edu	37	16	20043690	20043690	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:20043690G>A	ENST00000570682.1	-	2	729	c.429C>T	c.(427-429)gcC>gcT	p.A143A		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	143						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						TCCGGGTGCGGGCTGGGTATG	0.507000													15	174					0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131949431	131949431	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:131949431G>A	ENST00000286355.5	-	5	3461	c.1369C>T	c.(1369-1371)Cgt>Tgt	p.R457C	ADCY8_ENST00000377928.3_Missense_Mutation_p.R457C|RP11-737F9.1_ENST00000523318.1_RNA	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	457					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.R457S(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)			ATTTTAATACGAAGGCAGTGA	0.522000										HNSCC(32;0.087)			4	66					0	0	1	0	0
PEX1	5189	broad.mit.edu	37	7	92146608	92146608	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:92146608G>A	ENST00000248633.4	-	5	1316	c.1221C>T	c.(1219-1221)ctC>ctT	p.L407L	PEX1_ENST00000541751.1_5'UTR|PEX1_ENST00000428214.1_Silent_p.L407L|PEX1_ENST00000438045.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	407					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.L407L(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)			TCCCAAGATGGAGAACTTCTA	0.328000													22	88					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542388	179542388	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179542388G>A	ENST00000589042.1	-	146	34475	c.34251C>T	c.(34249-34251)gtC>gtT	p.V11417V	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Silent_p.V10173V|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.V11100V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11100	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCTGGAAGGACTTCTTCTT	0.438000													15	67					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164700074	164700074	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:164700074C>T	ENST00000264382.3	-	47	5434	c.5372G>A	c.(5371-5373)gGa>gAa	p.G1791E		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1791	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.G1791>?(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATTTTTATTTCCGTTATACGT	0.353000										HNSCC(35;0.089)			5	32					0	0	1	0	0
AMHR2	269	broad.mit.edu	37	12	53818527	53818527	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:53818527C>T	ENST00000257863.4	+	3	347	c.267C>T	c.(265-267)tcC>tcT	p.S89S	AMHR2_ENST00000379791.3_Silent_p.S89S|AMHR2_ENST00000550311.1_Silent_p.S89S	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	89					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCTGTGAGTCCCTCCACTGTG	0.582000													20	87					0	0	1	0	0
LYSMD3	116068	broad.mit.edu	37	5	89815239	89815239	+	Missense_Mutation	SNP	A	A	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:89815239A>T	ENST00000509384.1	-	3	406	c.259T>A	c.(259-261)Tat>Aat	p.Y87N	LYSMD3_ENST00000500869.2_Intron|LYSMD3_ENST00000315948.6_Silent_p.S106S			Q7Z3D4	LYSM3_HUMAN	LysM, putative peptidoglycan-binding, domain containing 3	0					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)		GAATTTTGATAGACCTAAGGG	0.393000													6	68					0	0	1	0	0
SLC52A3	113278	broad.mit.edu	37	20	744463	744463	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:744463G>A	ENST00000381944.3	-	3	993	c.752C>T	c.(751-753)tCc>tTc	p.S251F	SLC52A3_ENST00000217254.7_Missense_Mutation_p.S251F|SLC52A3_ENST00000473664.1_Intron			Q9NQ40	RFT2_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	251					sensory perception of sound	integral to plasma membrane	riboflavin transporter activity										GTCTTCCACGGAAGCCTCCCA	0.617000													8	66					0	0	1	0	0
TRAF5	7188	broad.mit.edu	37	1	211545936	211545936	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:211545936C>T	ENST00000336184.2	+	11	1626	c.1566C>T	c.(1564-1566)ccC>ccT	p.P522P	TRAF5_ENST00000367004.3_Silent_p.P522P|TRAF5_ENST00000427925.2_Silent_p.P416P|TRAF5_ENST00000261464.5_Silent_p.P522P	NM_004619.3	NP_004610.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	522	MATH.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		CTGGCTGTCCCCGCTTTGTGG	0.468000													22	89					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179542444	179542444	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179542444G>A	ENST00000589042.1	-	146	34419	c.34195C>T	c.(34195-34197)Cct>Tct	p.P11399S	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.P10155S|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P11082S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11082	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTCGGGAGGAACTTCCTCT	0.448000													27	101					0	0	1	0	0
ISLR	3671	broad.mit.edu	37	15	74467596	74467596	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:74467596G>A	ENST00000249842.3	+	2	754	c.397G>A	c.(397-399)Gag>Aag	p.E133K	ISLR_ENST00000395118.1_Missense_Mutation_p.E133K|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	133					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GGACAGCAACGAGCTGACCTT	0.592000													7	88					0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48271809	48271809	+	Splice_Site	SNP	C	C	T	rs72648352		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:48271809C>T	ENST00000225964.5	-	23	1634		c.e23-1			NM_000088.3	NP_000079.2	P02452	CO1A1_HUMAN	collagen, type I, alpha 1						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)	CAGCGGGACCCTGGTTGGGGG	0.612000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta						4	68					0	0	1	0	0
TEC	7006	broad.mit.edu	37	4	48170629	48170629	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:48170629G>A	ENST00000381501.3	-	6	626	c.469C>T	c.(469-471)Cta>Tta	p.L157L		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	157					intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						GCTGGAGGTAGTGCTTTTCTT	0.313000													6	55					0	0	1	0	0
CHRND	1144	broad.mit.edu	37	2	233398736	233398736	+	Silent	SNP	G	G	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:233398736G>C	ENST00000258385.3	+	10	1175	c.1143G>C	c.(1141-1143)ctG>ctC	p.L381L	CHRND_ENST00000543200.1_Silent_p.L366L|CHRND_ENST00000457943.2_Silent_p.L187L	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	381					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GCAGCTCCCTGGGATACATCT	0.652000													5	96					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31599958	31599958	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:31599958G>A	ENST00000379416.3	-	14	1436	c.1388C>T	c.(1387-1389)aCc>aTc	p.T463I		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	463					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GGCTGAGATGGTTCTGTTGGC	0.473000													6	116					0	0	1	0	0
MYBPC1	4604	broad.mit.edu	37	12	102043085	102043085	+	Missense_Mutation	SNP	G	G	A	rs147400257		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:102043085G>A	ENST00000549145.1	+	14	1308	c.1208G>A	c.(1207-1209)cGa>cAa	p.R403Q	MYBPC1_ENST00000547405.1_Missense_Mutation_p.R364Q|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R415Q|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R390Q|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R377Q|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R415Q|MYBPC1_ENST00000547509.1_Missense_Mutation_p.R376Q|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R390Q|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R390Q|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R371Q|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R390Q|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R291Q|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R390Q|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R378Q|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R390Q			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	390	Ig-like C2-type 3.				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						TCAAGATACCGAATTAGAGTT	0.348000													11	113					0	0	1	0	0
PRRT3	285368	broad.mit.edu	37	3	9991677	9991677	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:9991677C>T	ENST00000412055.1	-	2	252	c.123G>A	c.(121-123)atG>atA	p.M41I	PRRT3-AS1_ENST00000431558.1_RNA|PRRT3_ENST00000411976.2_Missense_Mutation_p.M41I	NM_207351.3	NP_997234.3	Q5FWE3	PRRT3_HUMAN	proline-rich transmembrane protein 3	41						integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						CTCCAGGGATCATAGGGATTT	0.612000													14	78					0	0	1	0	0
DMXL2	23312	broad.mit.edu	37	15	51790822	51790822	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:51790822G>A	ENST00000251076.5	-	18	4886	c.4599C>T	c.(4597-4599)ttC>ttT	p.F1533F	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Silent_p.F1533F|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1533						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AAGCTACAAGGAACATCTGCT	0.413000													15	77					0	0	1	0	0
SAMD14	201191	broad.mit.edu	37	17	48191657	48191657	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:48191657C>T	ENST00000330175.4	-	8	1153	c.836G>A	c.(835-837)aGt>aAt	p.S279N	SAMD14_ENST00000503131.1_Missense_Mutation_p.S307N	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	279										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						GGAGTCATCACTCAGAGTGGA	0.582000													6	45					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7661946	7661946	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr17:7661946G>A	ENST00000572933.1	+	14	3645	c.2185G>A	c.(2185-2187)Gag>Aag	p.E729K	DNAH2_ENST00000389173.2_Missense_Mutation_p.E729K			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	729	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)				CTTCATCACGGAGTGCCGTAT	0.522000													8	76					0	0	1	0	0
ABCB11	8647	broad.mit.edu	37	2	169783724	169783724	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:169783724C>T	ENST00000263817.6	-	26	3684	c.3560G>A	c.(3559-3561)aGa>aAa	p.R1187K		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1187	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi 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)	TGCTATGACTCTTTCCATGGG	0.438000													12	145					0	0	1	0	0
TARDBP	23435	broad.mit.edu	37	1	11077051	11077051	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:11077051T>C	ENST00000240185.3	+	3	503	c.389T>C	c.(388-390)gTt>gCt	p.V130A	TARDBP_ENST00000439080.2_Intron|TARDBP_ENST00000315091.3_Missense_Mutation_p.V130A	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	130	RRM 1.				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	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;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		TTTGGAGAAGTTCTTATGGTG	0.368000													16	106					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61830337	61830337	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:61830337G>A	ENST00000280772.1	-	37	10493	c.10302C>T	c.(10300-10302)ctC>ctT	p.L3434L	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3434					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						CTTGAATTGGGAGTTTAGAAT	0.443000													11	89					0	0	1	0	0
EIF3I	8668	broad.mit.edu	37	1	32688147	32688147	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:32688147C>T	ENST00000373586.1	+	2	84	c.12C>T	c.(10-12)atC>atT	p.I4I	EIF3I_ENST00000471486.1_3'UTR	NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3, subunit I	4						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				AGAAGCCGATCCTACTGCAGG	0.557000													13	121					0	0	1	0	0
OR2G6	391211	broad.mit.edu	37	1	248685005	248685005	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:248685005C>T	ENST00000343414.4	+	1	90	c.58C>T	c.(58-60)Cag>Tag	p.Q20*		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	20					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)			ATTTTCAGATCAGCCTCAGCT	0.443000													44	145					0	0	1	0	0
ZFPM2	23414	broad.mit.edu	37	8	106811068	106811068	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:106811068G>A	ENST00000407775.2	+	7	1106	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	RP11-152P17.2_ENST00000520433.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.E17K|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000518932.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.E154K|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.E154K|RP11-152P17.2_ENST00000520594.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	286					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GGTGTCAGAGGAAAATGAAGA	0.517000													32	126					0	0	1	0	0
MTOR	2475	broad.mit.edu	37	1	11174405	11174405	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:11174405C>T	ENST00000361445.4	-	53	7346	c.7270G>A	c.(7270-7272)Gac>Aac	p.D2424N	MTOR_ENST00000376838.1_Missense_Mutation_p.D629N	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2424	PI3K/PI4K.				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|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.D2424H(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						AGCAAGGGGTCATAGACAAAG	0.537000													7	97					0	0	1	0	0
NUP155	9631	broad.mit.edu	37	5	37302907	37302907	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:37302907G>A	ENST00000231498.3	-	29	3624	c.3421C>T	c.(3421-3423)Ctt>Ttt	p.L1141F	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Missense_Mutation_p.L1082F|NUP155_ENST00000513532.1_Missense_Mutation_p.L1077F	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1141					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AATTCATGAAGAAATTCACCA	0.403000													24	139					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52338039	52338039	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:52338039C>T	ENST00000296585.5	+	3	426	c.283C>T	c.(283-285)Cta>Tta	p.L95L		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	95					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ATGTGAAAAACTAAATTTGCA	0.378000													6	100					0	0	1	0	0
LAT	27040	broad.mit.edu	37	16	28997973	28997973	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:28997973C>T	ENST00000360872.5	+	6	501	c.423C>T	c.(421-423)ccC>ccT	p.P141P	LAT_ENST00000566177.1_Silent_p.P140P|RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000563964.1_Intron|LAT_ENST00000454369.2_Intron|LAT_ENST00000395456.2_Intron|LAT_ENST00000564277.1_Intron|LAT_ENST00000354453.4_Silent_p.P131P|LAT_ENST00000395461.3_Intron			O43561	LAT_HUMAN	linker for activation of T cells	141					calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				TGTCGTTACCCCCAGAACCAG	0.637000													6	68					0	0	1	0	0
SV2C	22987	broad.mit.edu	37	5	75596749	75596749	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr5:75596749C>T	ENST00000502798.2	+	11	2274	c.1832C>T	c.(1831-1833)aCa>aTa	p.T611I	SV2C_ENST00000322285.7_Missense_Mutation_p.T611I|RP11-466P24.6_ENST00000502589.1_RNA	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	611					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GGGCGCTTAACAATGCTAGGT	0.463000													8	116					0	0	1	0	0
NLRP13	126204	broad.mit.edu	37	19	56424395	56424395	+	Missense_Mutation	SNP	G	G	A	rs137923694		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:56424395G>A	ENST00000588751.1	-	5	812	c.788C>T	c.(787-789)tCc>tTc	p.S263F	NLRP13_ENST00000342929.3_Missense_Mutation_p.S263F			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	263	NACHT.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GAAAACATAGGAGAACCTTTG	0.468000													9	125					0	0	1	0	0
DMBX1	127343	broad.mit.edu	37	1	46976324	46976324	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:46976324C>T	ENST00000371956.4	+	2	361	c.346C>T	c.(346-348)Cag>Tag	p.Q116*	DMBX1_ENST00000360032.3_Nonsense_Mutation_p.Q111*	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	116	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GGCCCGGGTGCAGGTAGGGCC	0.597000													5	38					0	0	1	0	0
TRIM48	79097	broad.mit.edu	37	11	55036748	55036748	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:55036748G>A	ENST00000417545.2	+	5	695	c.609G>A	c.(607-609)caG>caA	p.Q203Q		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	187						intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						ACATGCCCCAGCCTCTGAATC	0.502000													4	26					0	0	1	0	0
DPH7	92715	broad.mit.edu	37	9	140459359	140459359	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:140459359G>A	ENST00000277540.2	-	7	919	c.762C>T	c.(760-762)atC>atT	p.I254I	DPH7_ENST00000479650.1_5'UTR	NM_138778.2	NP_620133.1			diphthamide biosynthesis 7																		CCGTGGCCAGGATGTGCTCCC	0.642000													3	12					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141250219	141250219	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:141250219C>T	ENST00000389484.3	-	57	10049	c.9078G>A	c.(9076-9078)agG>agA	p.R3026R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3026					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)		TGCTAATTTTCCTTATCTCAT	0.353000										TSP Lung(27;0.18)			17	87					0	0	1	0	0
MSH4	4438	broad.mit.edu	37	1	76343955	76343955	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:76343955C>T	ENST00000263187.3	+	11	1596	c.1492C>T	c.(1492-1494)Ctt>Ttt	p.L498F		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	498					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AAATGAATTTCTTGACATAGC	0.333000								Mismatch excision repair (MMR)					8	68					0	0	1	0	0
CLCN2	1181	broad.mit.edu	37	3	184072079	184072079	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:184072079C>T	ENST00000265593.4	-	15	1702	c.1531G>A	c.(1531-1533)Gtg>Atg	p.V511M	CLCN2_ENST00000344937.7_Missense_Mutation_p.V494M|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000423355.2_Silent_p.R126R|CLCN2_ENST00000434054.2_Missense_Mutation_p.V467M|CLCN2_ENST00000457512.1_Missense_Mutation_p.V511M	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	511						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GTGTGTGTCACCGCTCCTGCC	0.622000											OREG0015949	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	38					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179641454	179641454	+	Missense_Mutation	SNP	T	T	C			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:179641454T>C	ENST00000589042.1	-	28	5361	c.5137A>G	c.(5137-5139)Aga>Gga	p.R1713G	TTN_ENST00000359218.5_Missense_Mutation_p.R1667G|TTN_ENST00000342175.6_Missense_Mutation_p.R1667G|TTN_ENST00000342992.6_Missense_Mutation_p.R1713G|TTN_ENST00000460472.2_Missense_Mutation_p.R1667G|TTN_ENST00000360870.5_Missense_Mutation_p.R1713G|TTN_ENST00000591111.1_Missense_Mutation_p.R1713G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1467	Ig-like 8.						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)			CGCTTAAGTCTTAAGGAAGTG	0.463000													19	74					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158400981	158400981	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:158400981G>A	ENST00000243349.7	-	5	1279	c.919C>T	c.(919-921)Cat>Tat	p.H307Y	ACVR1C_ENST00000348328.5_Missense_Mutation_p.H150Y|ACVR1C_ENST00000335450.7_Missense_Mutation_p.H227Y|ACVR1C_ENST00000409680.3_Missense_Mutation_p.H257Y	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC	307	Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATCTCCATATGAAGGTGTGCC	0.363000													9	100					0	0	1	0	0
GRID1	2894	broad.mit.edu	37	10	87484405	87484405	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr10:87484405G>A	ENST00000327946.7	-	11	1647	c.1562C>T	c.(1561-1563)aCc>aTc	p.T521I	GRID1_ENST00000536331.1_Missense_Mutation_p.T92I	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	521						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGGGGTGATGGTGATGGCAGA	0.522000										Multiple Myeloma(13;0.14)			4	64					0	0	1	0	0
KRTAP5-11	440051	broad.mit.edu	37	11	71293716	71293716	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:71293716G>A	ENST00000398530.1	-	1	205	c.168C>T	c.(166-168)agC>agT	p.S56S	AP000867.1_ENST00000343767.3_Intron|KRTAP5-11_ENST00000526239.1_Intron	NM_001005405.2	NP_001005405.1	Q6L8G4	KR511_HUMAN	keratin associated protein 5-11	56	6 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						AGGAGCCACAGCTGGAGCAGG	0.632000													9	232					0	0	1	0	0
TRBV4-2	28616	broad.mit.edu	37	7	142045270	142045270	+	RNA	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:142045270G>A	ENST00000390392.3	+	0	19																											TGACATCACAGGAAAAACCAC	0.547000													5	38					0	0	1	0	0
CABP1	9478	broad.mit.edu	37	12	121098952	121098952	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:121098952G>A	ENST00000453000.1	+	5	1338	c.826G>A	c.(826-828)Gga>Aga	p.G276R	CABP1_ENST00000316803.3_Missense_Mutation_p.G340R|CABP1_ENST00000288616.3_Missense_Mutation_p.G197R|CABP1_ENST00000351200.2_Missense_Mutation_p.G137R			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	340	EF-hand 2.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCATCAGGTGGGACACCGAGA	0.522000													14	83					0	0	1	0	0
SERTAD2	9792	broad.mit.edu	37	2	64863636	64863636	+	Missense_Mutation	SNP	T	T	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr2:64863636T>A	ENST00000313349.3	-	2	667	c.370A>T	c.(370-372)Acg>Tcg	p.T124S		NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	124					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						TCCAGGGGCGTAGTGCTTCCG	0.697000													8	59					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24394474	24394474	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:24394474C>T	ENST00000330966.7	-	27	3506	c.3344G>A	c.(3343-3345)tGg>tAg	p.W1115*	MYOM3_ENST00000329601.7_Nonsense_Mutation_p.W1114*|MYOM3_ENST00000374434.3_Nonsense_Mutation_p.W1114*|RP11-293P20.4_ENST00000429191.1_RNA|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	1114										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TTTTCTCTTCCAGTCCCTTCT	0.527000													22	197					0	0	1	0	0
TLR4	7099	broad.mit.edu	37	9	120476176	120476176	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr9:120476176C>T	ENST00000355622.6	+	3	1871	c.1770C>T	c.(1768-1770)ttC>ttT	p.F590F	TLR4_ENST00000394487.4_Silent_p.F550F|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	590	LRRCT.				activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						ACCAGAGTTTCCTGCAATGGA	0.433000													10	55					0	0	1	0	0
ZNRF4	148066	broad.mit.edu	37	19	5456609	5456609	+	Silent	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:5456609C>T	ENST00000222033.4	+	1	1184	c.1107C>T	c.(1105-1107)ttC>ttT	p.F369F		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	369						integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		CCTACAGCTTCAGGGACGAGG	0.677000													7	99					0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54871252	54871252	+	Missense_Mutation	SNP	G	G	A	rs41277453		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:54871252G>A	ENST00000474759.1	+	15	1513	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.E489K|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.E489K|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.E395K	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	489	Cache.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		TAAGCAGAACGAAACCGTGAG	0.517000													19	192					0	0	1	0	0
CCBE1	147372	broad.mit.edu	37	18	57115254	57115254	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr18:57115254G>A	ENST00000439986.4	-	7	773	c.736C>T	c.(736-738)Cca>Tca	p.P246S	CCBE1_ENST00000398179.2_Silent_p.F21F	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	246	Collagen-like 1.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				GGAGGTCCTGGAAGGTAGGTG	0.577000													5	81					0	0	1	0	0
SPATA5	166378	broad.mit.edu	37	4	123868582	123868582	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:123868582G>A	ENST00000274008.3	+	9	1722	c.1653G>A	c.(1651-1653)caG>caA	p.Q551Q	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	551					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AGCTGCTGCAGCTGGCAAATA	0.483000													7	108					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47991229	47991229	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:47991229G>A	ENST00000371741.4	-	2	1034	c.868C>T	c.(868-870)Cag>Tag	p.Q290*		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	290					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CGGACATTCTGGAATTGCAGC	0.532000													6	89					0	0	1	0	0
HNF4G	3174	broad.mit.edu	37	8	76471257	76471257	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr8:76471257G>A	ENST00000396423.2	+	8	1202	c.1078G>A	c.(1078-1080)Gaa>Aaa	p.E360K	HNF4G_ENST00000354370.1_Missense_Mutation_p.E323K	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	323					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TCTACTTCAGGAAATGCTATT	0.338000													7	79					0	0	1	0	0
TRPC6	7225	broad.mit.edu	37	11	101323733	101323733	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:101323733C>T	ENST00000344327.3	-	13	3173	c.2749G>A	c.(2749-2751)Gga>Aga	p.G917R	TRPC6_ENST00000348423.4_Missense_Mutation_p.G801R|TRPC6_ENST00000360497.4_Missense_Mutation_p.G862R|TRPC6_ENST00000532133.1_Missense_Mutation_p.G839R	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	917					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AATTTCTCTCCAAGTTCTCTA	0.358000													6	84					0	0	1	0	0
ADCY7	113	broad.mit.edu	37	16	50335086	50335086	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr16:50335086G>A	ENST00000394697.2	+	10	1669	c.1329G>A	c.(1327-1329)aaG>aaA	p.K443K	ADCY7_ENST00000538642.1_Silent_p.K443K|ADCY7_ENST00000254235.3_Silent_p.K443K|ADCY7_ENST00000566433.2_Silent_p.K443K|ADCY7_ENST00000537579.1_Intron			P51828	ADCY7_HUMAN	adenylate cyclase 7	443					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|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|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	CCTACCTCAAGGAGATGAACA	0.677000													3	23					0	0	1	0	0
KLRG2	346689	broad.mit.edu	37	7	139164393	139164393	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:139164393G>A	ENST00000340940.4	-	3	1054	c.985C>T	c.(985-987)Ccc>Tcc	p.P329S	KLRG2_ENST00000393039.2_Intron	NM_198508.2	NP_940910.1	A4D1S0	KLRG2_HUMAN	killer cell lectin-like receptor subfamily G, member 2	329	C-type lectin.					integral to membrane	sugar binding			central_nervous_system(1)|large_intestine(2)|lung(3)	6	Melanoma(164;0.233)					CTTAGCAGGGGGAGGGTAGCG	0.552000													10	145					0	0	1	0	0
NLRP7	199713	broad.mit.edu	37	19	55450665	55450665	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr19:55450665C>T	ENST00000446217.1	-	6	2008	c.1606G>A	c.(1606-1608)Gaa>Aaa	p.E536K	NLRP7_ENST00000448121.2_Missense_Mutation_p.E508K|NLRP7_ENST00000328092.5_Missense_Mutation_p.E508K|NLRP7_ENST00000588756.1_Missense_Mutation_p.E508K|NLRP7_ENST00000340844.2_Missense_Mutation_p.E508K|NLRP7_ENST00000592784.1_Missense_Mutation_p.E508K|NLRP7_ENST00000590030.1_Missense_Mutation_p.E508K			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	508							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TTGAGTCTTTCTTCTCCGGAA	0.577000													7	99					0	0	1	0	0
RIMS1	22999	broad.mit.edu	37	6	72975146	72975146	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:72975146C>T	ENST00000521978.1	+	21	3248	c.3248C>T	c.(3247-3249)tCc>tTc	p.S1083F	RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000401910.3_Intron|RIMS1_ENST00000538414.1_Intron|RIMS1_ENST00000517827.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000522291.1_Intron|RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000523963.1_Intron|RIMS1_ENST00000425662.2_Intron|RIMS1_ENST00000518273.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1083					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAGGACATTTCCCTTCATCAT	0.318000													4	31					0	0	1	0	0
SI	6476	broad.mit.edu	37	3	164709981	164709981	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:164709981C>T	ENST00000264382.3	-	43	5029	c.4967G>A	c.(4966-4968)tGg>tAg	p.W1656*		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1656	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTAGTCAAACCACCGAGCATT	0.353000										HNSCC(35;0.089)			18	166					0	0	1	0	0
NDC1	55706	broad.mit.edu	37	1	54272140	54272140	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:54272140G>A	ENST00000371429.3	-	9	1540	c.942C>T	c.(940-942)tgC>tgT	p.C314C	NDC1_ENST00000540001.1_Silent_p.C314C|NDC1_ENST00000234725.8_Silent_p.C199C|NDC1_ENST00000537333.1_5'UTR	NM_001168551.1|NM_018087.4	NP_001162023.1|NP_060557.3			NDC1 transmembrane nucleoporin																		CTTTTGGAAGGCACTCATCTG	0.348000													5	51					0	0	1	0	0
AARS2	57505	broad.mit.edu	37	6	44272258	44272258	+	Missense_Mutation	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr6:44272258G>A	ENST00000244571.4	-	13	1767	c.1765C>T	c.(1765-1767)Cca>Tca	p.P589S	TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796.1	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	589					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(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)		L-Alanine(DB00160)	CGGGCTACTGGGAACAGCACG	0.617000											OREG0017473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	52					0	0	1	0	0
RELN	5649	broad.mit.edu	37	7	103276702	103276702	+	Silent	SNP	G	G	A			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr7:103276702G>A	ENST00000428762.1	-	18	2442	c.2283C>T	c.(2281-2283)ttC>ttT	p.F761F	RELN_ENST00000343529.5_Silent_p.F761F|RELN_ENST00000424685.2_Silent_p.F761F	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	761					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)		AGCTGTCAAGGAAAGATGTAA	0.428000													6	35					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152331258	152331258	+	Missense_Mutation	SNP	C	C	T			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr1:152331258C>T	ENST00000388718.5	-	2	175	c.103G>A	c.(103-105)Gaa>Aaa	p.E35K	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	35	EF-hand 1.|S-100-like (By similarity).						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)			TCCAGAAGTTCCTTTAGTTCA	0.483000													10	200					0	0	1	0	0
CD96	10225	broad.mit.edu	37	3	111197863	111197868	+	RNA	DEL	CACACA	CACACA	-	rs71968470		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr3:111197863_111197868delCACACA	ENST00000497896.1	-	0	208																											CGAACAGCCTcacacacacacacaca	0.544													3	4	---	---	---	---					
ZNF876P	642280	broad.mit.edu	37	4	212236	212236	+	RNA	DEL	A	A	-	rs80061878		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr4:212236delA	ENST00000356347.3	+	0	172					NR_027481.1																						ctaaaaatacaaaaaaaaaaa	0.493													2	4	---	---	---	---					
ACTN3	89	broad.mit.edu	37	11	66321928	66321928	+	RNA	DEL	A	A	-	rs141435934		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr11:66321928delA	ENST00000502692.1	+	0	714				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						accctgtctcaaaaaaaaaaa	0.537													3	2	---	---	---	---					
PKP2	5318	broad.mit.edu	37	12	32949216	32949229	+	Frame_Shift_Del	DEL	AGGGAGAGTTTCTT	AGGGAGAGTTTCTT	-			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:32949216_32949229delAGGGAGAGTTTCTT	ENST00000340811.4	-	11	2279_2292	c.2171_2184delAAGAAACTCTCCCT	c.(2170-2184)afs	p.KETLP724fs	PKP2_ENST00000070846.6_Frame_Shift_Del_p.KETLP768fs	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	768					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)					AAACCAAATCAGGGAGAGTTTCTTTGGCTACAAA	0.350													9	62	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132471341	132471341	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr12:132471341delC	ENST00000333577.4	+	7	2429	c.2320delC	c.(2320-2322)aafs	p.Q774fs	EP400_ENST00000330386.6_Frame_Shift_Del_p.Q738fs|EP400_ENST00000332482.4_Frame_Shift_Del_p.Q701fs|EP400_ENST00000389561.2_Frame_Shift_Del_p.Q738fs|EP400_ENST00000389562.2_Frame_Shift_Del_p.Q737fs			Q96L91	EP400_HUMAN	E1A binding protein p400	774					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)		GCTGACAGAACAAATAACTCT	0.478													16	161	---	---	---	---					
KIAA0391	9692	broad.mit.edu	37	14	35592700	35592700	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr14:35592700delT	ENST00000557565.1	+	2	630	c.249delT	c.(247-249)cafs	p.H83fs	KIAA0391_ENST00000321130.10_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000605870.1_Intron|KIAA0391_ENST00000250377.7_5'UTR|KIAA0391_ENST00000604948.1_Intron|KIAA0391_ENST00000603544.1_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000534898.4_Frame_Shift_Del_p.H83fs|KIAA0391_ENST00000603588.1_Intron			O15091	MRRP3_HUMAN	KIAA0391	83					tRNA processing	mitochondrion				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CTGTTCCTCATTTTTTTTTAG	0.423													9	88	---	---	---	---					
HERC2P2	400322	broad.mit.edu	37	15	23285254	23285268	+	RNA	DEL	TCCCTTCCCTTCCCT	TCCCTTCCCTTCCCT	-			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr15:23285254_23285268delTCCCTTCCCTTCCCT	ENST00000560464.1	-	0	5097																											CTTTCTTCTCtcccttcccttcccttcccttccct	0.474													5	6	---	---	---	---					
CSRP2BP	57325	broad.mit.edu	37	20	18131569	18131569	+	Frame_Shift_Del	DEL	T	T	-			TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr20:18131569delT	ENST00000278816.2	+	4	1133	c.483delT	c.(481-483)acfs	p.T161fs	CSRP2BP_ENST00000489634.2_Frame_Shift_Del_p.T33fs|CSRP2BP_ENST00000377681.2_Frame_Shift_Del_p.T161fs|CSRP2BP_ENST00000435364.2_Frame_Shift_Del_p.T161fs			Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein	161					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AACATTGGACTTTTTTACTAG	0.343													9	135	---	---	---	---					
ANKRD20A11P	391267	broad.mit.edu	37	21	15347257	15347258	+	RNA	INS	-	-	A	rs80199214		TCGA-ER-A42L-06A-11D-A24R-08	TCGA-ER-A42L-10A-01D-A24R-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a350a845-d56a-410d-99b0-c95c8f85a2bf	30437dd2-5e05-48df-be28-87f589b03c7b	g.chr21:15347257_15347258insA	ENST00000344693.5	-	0	736					NR_027270.1																						ACCCTGCACAGAAAAAAAGTTG	0.307													3	3	---	---	---	---