Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NOBOX	135935	broad.mit.edu	37	7	144101698	144101698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:144101698G>A	uc022aoj.1	-	1	161	c.161C>T	c.(160-162)tCc>tTc	p.S54F		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	54					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GATGAAGAAGGAGCTGAAAGA	0.577000														110			26		0	0	0.004656	0	0
MAPK14	1432	broad.mit.edu	37	6	36020474	36020474	+	Splice_Site	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:36020474A>G	uc003olq.3	+	2	598	c.117_splice	c.e2-2	p.C39_splice	MAPK14_uc011dth.2_Splice_Site_p.C39_splice|MAPK14_uc003olo.3_Splice_Site_p.C39_splice|MAPK14_uc003olp.3_Splice_Site_p.C39_splice|MAPK14_uc003olr.3_Splice_Site_p.C39_splice|MAPK14_uc011dti.2_Splice_Site	NM_139012	NP_620581	Q16539	MK14_HUMAN	Homo sapiens mitogen-activated protein kinase 14 (MAPK14), transcript variant 2, mRNA.	39	Protein kinase.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Ras protein signal transduction|Toll signaling pathway|activation of MAPK activity|cellular component movement|cellular response to ionizing radiation|chemotaxis|innate immune response|mRNA metabolic process|muscle cell differentiation|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of muscle cell differentiation|positive regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|signal transduction in response to DNA damage|stress-activated MAPK cascade|stress-induced premature senescence|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|MAP kinase activity|MAP kinase kinase activity|protein binding	p.?(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						TTTTCTCCTTAGTGCTGCTTT	0.373000														63			16		0	0	0.007413	0	0
SAE1	10055	broad.mit.edu	37	19	47656285	47656285	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:47656285A>G	uc002pgc.3	+	3	623	c.515A>G	c.(514-516)cAt>cGt	p.H172R	SAE1_uc002pgd.3_Missense_Mutation_p.H172R|SAE1_uc010ekx.3_Missense_Mutation_p.H172R|SAE1_uc010ekw.3_Non-coding_Transcript|SAE1_uc010xyk.2_Intron|SAE1_uc002pge.3_Missense_Mutation_p.H108R	NM_005500	NP_005491	Q9UBE0	SAE1_HUMAN	Homo sapiens SUMO1 activating enzyme subunit 1 (SAE1), transcript variant 1, mRNA.	172					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		CTAGGAGAGCATGAGTTTGTA	0.333000														118			16		0	0	0.008871	0	0
TMEM38B	55151	broad.mit.edu	37	9	108457007	108457007	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:108457007C>T	uc004bcu.1	+	0	183	c.66C>T	c.(64-66)gaC>gaT	p.D22D	TMEM38B_uc010mtn.1_Silent_p.D22D	NM_018112	NP_060582	Q9NVV0	TM38B_HUMAN	Homo sapiens transmembrane protein 38B (TMEM38B), mRNA.	22						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						CCTTTTTTGACATCGCGCACT	0.632000														43			10		0	0	0.001368	0	0
OR8S1	341568	broad.mit.edu	37	12	48919450	48919450	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:48919450C>T	uc010slu.2	+	0	36	c.36C>T	c.(34-36)ttC>ttT	p.F12F		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	12					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						TCACCGAGTTCCTCCTCCTTG	0.502000														106			45		0	0	0.002852	0	0
NLRC3	197358	broad.mit.edu	37	16	3600437	3600437	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:3600437C>T	uc010btn.3	-	11	2820	c.2409G>A	c.(2407-2409)gtG>gtA	p.V803V	NLRC3_uc010bto.1_Silent_p.V69V	NM_178844	NP_849172	Q7RTR2	NLRC3_HUMAN	Homo sapiens NLR family, CARD domain containing 3 (NLRC3), mRNA.	804					I-kappaB kinase/NF-kappaB cascade|T cell activation|negative regulation of NF-kappaB transcription factor activity	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCCCTGGTTCACCTTCAGGG	0.572000														23			10		0	0	0.001368	0	0
NLGN2	57555	broad.mit.edu	37	17	7319039	7319039	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:7319039A>G	uc002ggt.1	+	5	1320	c.1247A>G	c.(1246-1248)aAc>aGc	p.N416S		NM_020795	NP_065846	Q8NFZ4	NLGN2_HUMAN	Homo sapiens neuroligin 2 (NLGN2), mRNA.	416					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				TTTGTGGACAACCTGTATGGC	0.562000														69			28		0	0	0.005443	0	0
KHDRBS2	202559	broad.mit.edu	37	6	62687981	62687981	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:62687981A>C	uc003peg.2	-	3	720	c.473T>G	c.(472-474)tTc>tGc	p.F158C		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	158					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AGGAACCAGGAATTTTTTAAT	0.353000														59			16		0	0	0.008871	0	0
SCAMP2	10066	broad.mit.edu	37	15	75142926	75142927	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:75142926_75142927GG>AA	uc002azb.1	-	5	634_635	c.560_561CC>TT	c.(559-561)tcc>tTT	p.S187F	SCAMP2_uc002aza.1_Missense_Mutation_p.S37F	NM_005697	NP_005688	O15127	SCAM2_HUMAN	Homo sapiens secretory carrier membrane protein 2 (SCAMP2), mRNA.	187					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						ACCACAGGATGGAGAGGCCAAA	0.564000														60			37		0	0	0.004672	0	0
PODXL2	50512	broad.mit.edu	37	3	127379873	127379873	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:127379873C>T	uc003ejq.2	+	2	1026	c.1002C>T	c.(1000-1002)tcC>tcT	p.S334S		NM_015720	NP_056535	Q9NZ53	PDXL2_HUMAN	Homo sapiens podocalyxin-like 2 (PODXL2), mRNA.	334					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						CAGCCTCTTCCCCACTGGCCC	0.587000														28			24		0	0	0.007291	0	0
GFI1B	8328	broad.mit.edu	37	9	135864497	135864497	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:135864497G>A	uc004ccg.3	+	4	915	c.560G>A	c.(559-561)aGt>aAt	p.S187N	GFI1B_uc010mzy.3_Intron	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.	187	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CGCTCCCATAGTGGGACCCGG	0.667000														24			4		0	0	0.000248	0	0
FAM179A	165186	broad.mit.edu	37	2	29245103	29245103	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:29245103G>A	uc010ezl.3	+	10	1791	c.1440G>A	c.(1438-1440)aaG>aaA	p.K480K	FAM179A_uc010ymm.2_Silent_p.K425K|FAM179A_uc002rmr.4_Silent_p.K7K	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	480							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GAGCCTGTAAGGAGTTGAGGC	0.542000														57			31		0	0	0.001786	0	0
KIAA0564	23078	broad.mit.edu	37	13	42149909	42149909	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:42149909G>A	uc001uyj.3	-	42	5407	c.5337C>T	c.(5335-5337)ccC>ccT	p.P1779P		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1779	VWFA.					extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TATTGTCCTTGGGGATTTTGT	0.348000														55			8		0	0	0.008291	0	0
MARS2	92935	broad.mit.edu	37	2	198571316	198571316	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:198571316A>G	uc002uuq.3	+	0	1289	c.1187A>G	c.(1186-1188)aAc>aGc	p.N396S	BC021693_uc002uup.3_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	Homo sapiens methionyl-tRNA synthetase 2, mitochondrial (MARS2), nuclear gene encoding mitochondrial protein, mRNA.	396					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	AAGTTGCTGAACTCCGAGCTG	0.522000														179			29		0	0	0.007291	0	0
NOTCH2NL	388677	broad.mit.edu	37	1	145273357	145273357	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:145273357T>C	uc001emn.4	+	2	581	c.211T>C	c.(211-213)Ttt>Ctt	p.F71L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.F71L|NOTCH2NL_uc001emo.2_Missense_Mutation_p.F71L|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	71	EGF-like 3.				Notch signaling pathway|cell differentiation|multicellular organismal development	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TCATCCATGCTTTGTGTCTCG	0.547000														858			72		0	0	0.003610	0	0
ACSM5	54988	broad.mit.edu	37	16	20451162	20451162	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:20451162C>T	uc002dhe.3	+	12	1724	c.1577C>T	c.(1576-1578)tCt>tTt	p.S526F		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	526					fatty acid metabolic process	mitochondrial matrix	ATP binding|GTP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GCCTACTCCTCTCATGACCCA	0.468000														56			33		0	0	0.007835	0	0
FOXM1	2305	broad.mit.edu	37	12	2975601	2975601	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:2975601G>A	uc001qlf.3	-	4	1216	c.933C>T	c.(931-933)caC>caT	p.H311H	FOXM1_uc001qle.3_Silent_p.H311H|FOXM1_uc009zea.3_Silent_p.H310H|FOXM1_uc009zeb.3_Silent_p.H310H|FOXM1_uc001qlg.3_Silent_p.H311H	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	311					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of Ras protein signal transduction|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TGGCACTGGGGTGAATGGTCC	0.522000														38			16		0	0	0.004990	0	0
TGM1	7051	broad.mit.edu	37	14	24731398	24731398	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:24731398C>T	uc001wod.3	-	1	285	c.161G>A	c.(160-162)cGa>cAa	p.R54Q	TGM1_uc010tog.2_5'UTR|TGM1_uc021rrn.1_5'Flank	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	54	Membrane anchorage region.				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TGCCGCATTTCGGCATGAACA	0.647000														59			27		0	0	0.008361	0	0
VPS39	23339	broad.mit.edu	37	15	42481343	42481343	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:42481343T>C	uc001zpd.3	-	5	495	c.344A>G	c.(343-345)aAg>aGg	p.K115R	VPS39_uc001zpc.3_Missense_Mutation_p.K104R	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	115	CNH.				protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		TGATGCTCCCTTTGCCTTTGA	0.373000														32			10		0	0	0.001368	0	0
HIVEP2	3097	broad.mit.edu	37	6	143093438	143093438	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:143093438G>A	uc003qjd.3	-	4	3181	c.2438C>T	c.(2437-2439)tCa>tTa	p.S813L		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	813					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CCTTTCAAATGAATTGGGTCG	0.498000														29			22		0	0	0.001882	0	0
TNK2	10188	broad.mit.edu	37	3	195594769	195594769	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:195594769G>A	uc003fvu.1	-	11	2898	c.2355C>T	c.(2353-2355)tcC>tcT	p.S785S	TNK2_uc003fvq.1_Silent_p.S192S|TNK2_uc003fvr.1_Silent_p.S310S|TNK2_uc003fvs.1_Silent_p.S817S|TNK2_uc003fvt.1_Silent_p.S863S|TNK2_uc010hzw.1_Non-coding_Transcript	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	785	EBD domain (By similarity).|Pro-rich.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	AGCCTTGAGGGGACAGGGGCT	0.716000														23			5		0	0	0.000602	0	0
MYO18B	84700	broad.mit.edu	37	22	26231332	26231332	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:26231332C>T	uc003abz.1	+	16	3380	c.3130C>T	c.(3130-3132)Cat>Tat	p.H1044Y	MYO18B_uc003aca.1_Missense_Mutation_p.H925Y|MYO18B_uc010guy.1_Missense_Mutation_p.H926Y|MYO18B_uc010guz.1_Missense_Mutation_p.H925Y|MYO18B_uc011aka.1_Missense_Mutation_p.H198Y|MYO18B_uc011akb.1_Missense_Mutation_p.H557Y	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1044	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	ATP binding|actin binding|motor activity	p.H1045N(1)		NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGAGGAAGTCCATGTAGAGGG	0.582000														55			22		0	0	0.002299	0	0
ZNF484	83744	broad.mit.edu	37	9	95609334	95609334	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:95609334G>A	uc004asu.1	-	4	1884	c.1735C>T	c.(1735-1737)Cca>Tca	p.P579S	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Missense_Mutation_p.P581S|ZNF484_uc004asv.1_Missense_Mutation_p.P543S|ZNF484_uc010mrb.1_Missense_Mutation_p.P543S	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						CAAACATATGGTTTTTCCCCT	0.383000														55			27		0	0	0.005443	0	0
INPP5F	22876	broad.mit.edu	37	10	121557075	121557075	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:121557075T>C	uc001leo.3	+	7	1187	c.971T>C	c.(970-972)gTt>gCt	p.V324A		NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase F (INPP5F), transcript variant 1, mRNA.	324	SAC.						phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CTGTCATTTGTTCAAACACGA	0.438000														27			4		0	0	0.000602	0	0
CTIF	9811	broad.mit.edu	37	18	46284513	46284513	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:46284513A>G	uc002ldd.3	+	8	1167	c.808A>G	c.(808-810)Aat>Gat	p.N270D	CTIF_uc002ldc.3_Missense_Mutation_p.N270D|CTIF_uc002lde.4_5'Flank	NM_001142397	NP_001135869	O43310	CTIF_HUMAN	Homo sapiens CBP80/20-dependent translation initiation factor (CTIF), transcript variant 2, mRNA.	270	Interaction with NCBP1/CBP80.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational initiation	perinuclear region of cytoplasm	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	31						CGCACACCGCAATGCCAAAGA	0.642000														21			15		0	0	0.004990	0	0
TNXB	7148	broad.mit.edu	37	6	32030067	32030067	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:32030067C>T	uc003nzl.2	-	19	7237	c.7035G>A	c.(7033-7035)aaG>aaA	p.K2345K		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	2407	Fibronectin type-III 15.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCGTGTTGCCTTGGGCTGCC	0.602000														242			117		0	0	0.003610	0	0
CSH2	1443	broad.mit.edu	37	17	61949648	61949648	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:61949648G>A	uc002jch.3	-	4	607	c.492C>T	c.(490-492)atC>atT	p.I164I	CSH2_uc002jci.3_3'UTR|CSH2_uc002jcg.3_Silent_p.I69I	NM_020991	NP_066271	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.	164					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						TCTGCTTGAGGATCTGCCCAG	0.552000														102			38		0	0	0.002222	0	0
MTF1	4520	broad.mit.edu	37	1	38304397	38304397	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:38304397T>C	uc001cce.1	-	3	820	c.679A>G	c.(679-681)Aaa>Gaa	p.K227E	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	227						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTAAACGTTTTCCCTGTGTGA	0.378000														52			18		0	0	0.001882	0	0
NDUFA9	4704	broad.mit.edu	37	12	4777656	4777656	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:4777656C>T	uc001qnc.3	+	6	718	c.689C>T	c.(688-690)tCc>tTc	p.S230F	NDUFA9_uc009zei.2_Silent_p.F269F|NDUFA9_uc010ses.2_Missense_Mutation_p.S11F	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa (NDUFA9), nuclear gene encoding mitochondrial protein, mRNA.	230					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	CCCCTTGGTTCCTTGGGCTGG	0.403000														98			45		0	0	0.003610	0	0
PTPRT	11122	broad.mit.edu	37	20	41400105	41400105	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:41400105C>T	uc002xkg.3	-	4	838	c.654G>A	c.(652-654)aaG>aaA	p.K218K	PTPRT_uc010ggj.3_Silent_p.K218K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	218	Ig-like C2-type.		K -> T (in a gastric cancer).		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)				GCTGAGACCACTTCCCACCAG	0.493000														125			58		0	0	0.003610	0	0
SPAG5	10615	broad.mit.edu	37	17	26918858	26918858	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:26918858T>C	uc002hbq.3	-	3	1387	c.1295A>G	c.(1294-1296)cAt>cGt	p.H432R	SPAG5_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	432					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TTCCAAGTCATGTCGAGACAA	0.557000														39			25		0	0	0.005443	0	0
GPT	2875	broad.mit.edu	37	8	145731495	145731495	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:145731495T>C	uc003zdh.4	+	6	1160	c.937T>C	c.(937-939)Tcc>Ccc	p.S313P	GPT_uc011llj.1_Missense_Mutation_p.L335P	NM_005309	NP_005300	P24298	ALAT1_HUMAN	Homo sapiens glutamic-pyruvate transaminase (alanine aminotransferase) (GPT), mRNA.	313					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CCACTCCACCTCCAAGGGCTA	0.692000														43			4		0	0	0.000602	0	0
ZCCHC11	23318	broad.mit.edu	37	1	52956469	52956469	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:52956469T>C	uc001cty.2	-	7	1576	c.1323A>G	c.(1321-1323)ttA>ttG	p.L441L	ZCCHC11_uc001ctx.2_Silent_p.L441L|ZCCHC11_uc009vze.1_Silent_p.L441L|ZCCHC11_uc009vzf.1_Silent_p.L200L|ZCCHC11_uc001cub.3_Silent_p.L441L|ZCCHC11_uc001cuc.2_Non-coding_Transcript	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	441					RNA 3'-end processing|miRNA catabolic process|pre-miRNA processing|stem cell maintenance	cytoplasm|nucleolus	RNA uridylyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CATCTACATATAATACTAATA	0.294000														12			18		0	0	0.007413	0	0
ZNF683	257101	broad.mit.edu	37	1	26691406	26691406	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:26691406G>T	uc001bmg.1	-	3	749	c.631C>A	c.(631-633)Cta>Ata	p.L211I	ZNF683_uc001bmh.1_Missense_Mutation_p.L211I|ZNF683_uc009vsj.1_Missense_Mutation_p.L211I	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L211T(2)|p.L196T(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		TCAGAAGGTAGGGCCCCATAG	0.582000														24			10		5.16669e-11	9.0489e-11	0.000978	1	0
NOS1	4842	broad.mit.edu	37	12	117726018	117726018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:117726018C>T	uc001twn.2	-	4	1699	c.988G>A	c.(988-990)Gga>Aga	p.G330R	NOS1_uc021ren.1_5'UTR|NOS1_uc021reo.1_5'UTR|NOS1_uc001twm.2_Missense_Mutation_p.G330R	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	330					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.T329T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCAGTGCATCCCGTTTCCTGG	0.517000														64			25		0	0	0.008361	0	0
DNAJB6	10049	broad.mit.edu	37	7	157159236	157159236	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:157159236A>G	uc003wnk.3	+	3	371	c.216A>G	c.(214-216)ggA>ggG	p.G72G	DNAJB6_uc003wnj.3_Silent_p.G72G|DNAJB6_uc003wnl.3_Silent_p.G59G|DNAJB6_uc011kvy.2_Silent_p.G23G|DNAJB6_uc011kvz.2_Silent_p.G72G|DNAJB6_uc010lqt.3_Silent_p.G72G	NM_058246	NP_490647	O75190	DNJB6_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 6 (DNAJB6), transcript variant 1, mRNA.	72	Interaction with HSP70.				intermediate filament organization|negative regulation of caspase activity|protein folding|response to unfolded protein	nucleus|perinuclear region of cytoplasm	ATPase activator activity|chaperone binding|heat shock protein binding|unfolded protein binding			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GCAAAGAAGGATTAAATGGTG	0.373000														132			10		0	0	0.008291	0	0
KBTBD12	166348	broad.mit.edu	37	3	127642829	127642829	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:127642829T>C	uc010hsr.3	+	0	928	c.925T>C	c.(925-927)Tat>Cat	p.Y309H	KBTBD12_uc003ejy.4_Intron|KBTBD12_uc010hsq.3_Intron|KBTBD12_uc003eka.4_Intron|KBTBD12_uc003ejz.2_Missense_Mutation_p.Y309H	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	309										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						ACGGAAAACCTATTTCATCTC	0.418000														62			31		0	0	0.002096	0	0
XAB2	56949	broad.mit.edu	37	19	7685759	7685759	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:7685759G>A	uc002mgx.3	-	13	1970	c.1944C>T	c.(1942-1944)acC>acT	p.T648T		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	648					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						AGATGCCGCGGGTGTGGGTGA	0.657000								Direct reversal of damage;Nucleotide excision repair (NER)						19			13		0	0	0.007413	0	0
IL25	64806	broad.mit.edu	37	14	23844966	23844966	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:23844966G>A	uc001wjr.3	+	1	669	c.411G>A	c.(409-411)caG>caA	p.Q137Q	IL25_uc001wjq.3_Silent_p.Q121Q|CMTM5_uc010akn.3_5'Flank|CMTM5_uc001wju.3_5'Flank|CMTM5_uc010ako.3_5'Flank|CMTM5_uc001wjs.3_5'Flank|CMTM5_uc001wjt.3_5'Flank|CMTM5_uc010akm.3_5'Flank	NM_022789	NP_073626	Q9H293	IL25_HUMAN	Homo sapiens interleukin 25 (IL25), transcript variant 1, mRNA.	137					inflammatory response	extracellular space|membrane	cytokine activity|interleukin-17E receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	9	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.00665)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0396)		ACCACAACCAGACTGTCTTCT	0.627000														48			22		0	0	0.002780	0	0
COL6A5	256076	broad.mit.edu	37	3	130095428	130095428	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:130095428T>C	uc010htj.1	+	2	910	c.416T>C	c.(415-417)gTg>gCg	p.V139A	COL6A5_uc010hti.1_Non-coding_Transcript	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	139	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen		p.V139L(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CCAATTTTGGTGGTCCTGGCT	0.527000														4			4		0	0	0.001168	0	0
IVNS1ABP	10625	broad.mit.edu	37	1	185276662	185276662	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:185276662T>A	uc001grl.3	-	5	1113	c.490A>T	c.(490-492)Att>Ttt	p.I164F	IVNS1ABP_uc001grj.3_5'Flank|IVNS1ABP_uc009wyj.3_5'UTR|IVNS1ABP_uc009wyk.3_Non-coding_Transcript	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	Homo sapiens influenza virus NS1A binding protein (IVNS1ABP), mRNA.	164	BACK.|Sufficient for AHR interaction and signaling.				RNA splicing|interspecies interaction between organisms|response to virus|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TCTTCAGAAATTTGTAACAAA	0.388000														82			9		0	0	0.006214	0	0
LRIT3	345193	broad.mit.edu	37	4	110791135	110791135	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:110791135C>T	uc003hzx.4	+	2	1288	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	LRIT3_uc003hzw.4_Silent_p.F227F	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	365	Ser-rich.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		ctgcttccttctctttatctc	0.468000														54			24		0	0	0.002299	0	0
MCOLN2	255231	broad.mit.edu	37	1	85397205	85397205	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:85397205T>C	uc001dkm.3	-	11	1623	c.1382A>G	c.(1381-1383)aAc>aGc	p.N461S	MCOLN2_uc001dkn.3_Non-coding_Transcript	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	461						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		GTCATCACCGTTGACCAGAGA	0.398000														52			13		0	0	0.002450	0	0
SLC4A2	6522	broad.mit.edu	37	7	150761827	150761827	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:150761827C>T	uc022apz.1	+	3	1472	c.432C>T	c.(430-432)tcC>tcT	p.S144S	SLC4A2_uc003wit.4_Silent_p.S144S|SLC4A2_uc011kve.2_Silent_p.S135S|SLC4A2_uc003wiu.4_Silent_p.S130S	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	144	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCAGCCGTCCCCTGTCTCCA	0.687000														76			5		0	0	0.001168	0	0
TMEM2	23670	broad.mit.edu	37	9	74312988	74312988	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:74312988T>C	uc011lsa.1	-	19	4050	c.3510A>G	c.(3508-3510)gcA>gcG	p.A1170A	TMEM2_uc011lrz.1_Silent_p.A163A|TMEM2_uc010mos.2_Silent_p.A1107A|TMEM2_uc011lsb.1_Non-coding_Transcript|TMEM2_uc004aik.2_Silent_p.A4A	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	1170						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ACTGTGGGTATGCTTTGGCCA	0.522000														37			18		0	0	0.004990	0	0
ZDBF2	57683	broad.mit.edu	37	2	207171150	207171150	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:207171150G>A	uc002vbp.2	+	4	2148	c.1898G>A	c.(1897-1899)gGg>gAg	p.G633E		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	633							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTCTCACTTGGGACAGTTGCA	0.423000														85			39		0	0	0.002522	0	0
RAB15	376267	broad.mit.edu	37	14	65415205	65415205	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:65415205A>G	uc021rut.1	-	6	587	c.506T>C	c.(505-507)gTg>gCg	p.V169A	CHURC1-FNTB_uc010tsl.2_Intron|CHURC1-FNTB_uc010tsm.2_Intron|RAB15_uc001xhz.2_3'UTR|RAB15_uc021rur.1_Non-coding_Transcript|RAB15_uc021rus.1_Non-coding_Transcript			P59190	RAB15_HUMAN	Homo sapiens RAB15, member RAS onocogene family (RAB15), mRNA.	169					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	p.R169S(1)		endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		GGCCTGCAGCACCAGCTCTGT	0.617000														75			7		0	0	0.003080	0	0
C2orf71	388939	broad.mit.edu	37	2	29295010	29295010	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:29295010G>A	uc002rmt.2	-	0	2118	c.2118C>T	c.(2116-2118)atC>atT	p.I706I		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	706					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTCCTGATGGGATGGCATTTG	0.498000														61			27		0	0	0.004656	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166944751	166944751	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:166944751G>A	uc003qvd.1	-	4	455	c.342C>T	c.(340-342)gcC>gcT	p.A114A	RPS6KA2_uc011ego.1_5'UTR|RPS6KA2_uc010kkl.1_5'UTR|RPS6KA2_uc003qvb.1_Silent_p.A89A|RPS6KA2_uc003qvc.1_Silent_p.A97A	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.	89	Protein kinase 1.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		GGACCTTCATGGCGTAGAGCT	0.507000														41			51		0	0	0.003610	0	0
SEC23B	10483	broad.mit.edu	37	20	18523695	18523695	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:18523695T>C	uc002wra.2	+	13	2005	c.1544T>C	c.(1543-1545)aTa>aCa	p.I515T	SEC23B_uc010zsb.2_Missense_Mutation_p.I497T|SEC23B_uc002wrb.2_Missense_Mutation_p.I515T|SEC23B_uc002wqz.2_Missense_Mutation_p.I515T|SEC23B_uc002wrc.2_Missense_Mutation_p.I515T	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	515					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|ER-Golgi intermediate compartment membrane|Golgi membrane|endoplasmic reticulum membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CTCAGGCACATAGAAGCAGCA	0.547000														132			26		0	0	0.005443	0	0
TUBAL3	79861	broad.mit.edu	37	10	5437436	5437436	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:5437436C>T	uc001ihy.3	-	2	288	c.250G>A	c.(250-252)Ggg>Agg	p.G84R	TUBAL3_uc001ihz.3_Missense_Mutation_p.G44R	NM_024803	NP_079079	A6NHL2	TBAL3_HUMAN	Homo sapiens tubulin, alpha-like 3 (TUBAL3), transcript variant 1, mRNA.	84					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(7)|prostate(2)|skin(3)	25						GTCCGGATCCCATCTGCAGAG	0.592000														57			53		0	0	0.003610	0	0
CDH17	1015	broad.mit.edu	37	8	95182670	95182670	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:95182670G>C	uc003ygh.2	-	8	1146	c.1021C>G	c.(1021-1023)Ccg>Gcg	p.P341A	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Missense_Mutation_p.P341A	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	341	Cadherin 4.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			ACTGGTGACGGACATGTAGGT	0.413000														149			21		0	0	0.001882	0	0
REXO1L1	254958	broad.mit.edu	37	8	86573772	86573772	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:86573772C>T	uc022axf.1	-	0	1955	c.1955G>A	c.(1954-1956)tGg>tAg	p.W652*		NM_172239	NP_758439	Q8IX06	GOR_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA.	652						cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						TCGGACCTTCCACATCACCAG	0.667000														89			5		0	0	0.001168	0	0
ZFAND2A	90637	broad.mit.edu	37	7	1197308	1197309	+	Missense_Mutation	DNP	GG	AA	AA	rs111354345	byFrequency	TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:1197308_1197309GG>AA	uc003skd.4	-	2	434_435	c.133_134CC>TT	c.(133-135)ccg>TTg	p.P45L	ZFAND2A_uc003skc.3_Missense_Mutation_p.P45L|ZFAND2A_uc021zyp.1_5'Flank|AK090593_uc003skf.1_5'Flank			Q8N6M9	ZFN2A_HUMAN	Homo sapiens zinc finger, AN1-type domain 2A (ZFAND2A), mRNA.	45						cytoplasm|nucleus	zinc ion binding			lung(2)|ovary(1)	3		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.82e-15)		GAATGCAAACGGACACTTATGT	0.391000														212			70		0	0	0.004672	0	0
SEPT4	5414	broad.mit.edu	37	17	56604107	56604107	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:56604107G>A	uc010wnx.2	-	2	483	c.338C>T	c.(337-339)cCt>cTt	p.P113L	SEPT4_uc002iwk.2_5'UTR|SEPT4_uc010wnw.2_5'UTR|SEPT4_uc002iwl.2_5'UTR|SEPT4_uc002iwm.2_Missense_Mutation_p.P98L|SEPT4_uc002iwo.2_Missense_Mutation_p.P79L|SEPT4_uc002iwp.2_Missense_Mutation_p.P79L|SEPT4_uc010wny.2_Missense_Mutation_p.P90L|SEPT4_uc010dcy.2_Intron	NM_080416	NP_536341	O43236	SEPT4_HUMAN	Homo sapiens septin 4 (SEPT4), transcript variant 3, mRNA.	98					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGGCTGAGAGGGGCTGGGGC	0.632000														52			26		0	0	0.007291	0	0
SEMA3A	10371	broad.mit.edu	37	7	83590917	83590917	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:83590917T>C	uc003uhz.3	-	16	2401	c.2086A>G	c.(2086-2088)Aca>Gca	p.T696A		NM_006080	NP_006071	Q14563	SEM3A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A (SEMA3A), mRNA.	696					axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TGGCTAGGTGTCATGCTATTG	0.438000														188			33		0	0	0.004878	0	0
CCDC74A	90557	broad.mit.edu	37	2	132290319	132290319	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:132290319G>A	uc002tta.3	+	4	893	c.841G>A	c.(841-843)Gag>Aag	p.E281K	CCDC74A_uc002ttb.3_Missense_Mutation_p.E215K|CCDC74A_uc021vpq.1_Intron|CCDC74A_uc021vpr.1_Missense_Mutation_p.E278K	NM_138770	NP_620125	Q96AQ1	CC74A_HUMAN	Homo sapiens coiled-coil domain containing 74A (CCDC74A), mRNA.	281										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						GCTCATCCGCGAGCTGTGGAA	0.677000														42			23		0	0	0.002299	0	0
EP400NL	347918	broad.mit.edu	37	12	132611123	132611123	+	RNA	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:132611123A>G	uc001ujx.1	+	6		c.2029A>G								Homo sapiens EP400 N-terminal like (EP400NL), non-coding RNA.											endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						ATGCCATATCACGTCCTGTAG	0.473000														21			4		0	0	0.000602	0	0
PCYT2	5833	broad.mit.edu	37	17	79864054	79864054	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:79864054C>T	uc002kcf.2	-	9	869	c.760_splice	c.e9-1	p.E254_splice	PCYT2_uc010wvb.2_Splice_Site_p.E222_splice|PCYT2_uc002kce.2_Splice_Site_p.E176_splice|PCYT2_uc002kch.2_Splice_Site_p.E272_splice|PCYT2_uc002kci.2_Splice_Site_p.E213_splice|PCYT2_uc010wvc.2_Splice_Site_p.E176_splice	NM_002861	NP_002852	Q99447	PCY2_HUMAN	Homo sapiens phosphate cytidylyltransferase 2, ethanolamine (PCYT2), transcript variant 2, mRNA.	254	Catalytic 2 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GATTGACCTCCTGCGGCCAGA	0.627000														13			3		0	0	0.004672	0	0
TSPAN1	10103	broad.mit.edu	37	1	46650955	46650955	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:46650955T>C	uc001cpd.3	+	7	1127	c.653T>C	c.(652-654)gTg>gCg	p.V218A		NM_005727	NP_005718	O60635	TSN1_HUMAN	Homo sapiens tetraspanin 1 (TSPAN1), mRNA.	218						integral to membrane|lysosomal membrane				kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				GTGGGTGGTGTGGCAGCTGGA	0.542000														166			42		0	0	0.003610	0	0
PELI2	57161	broad.mit.edu	37	14	56757136	56757136	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:56757136T>C	uc001xch.3	+	4	944	c.658T>C	c.(658-660)Ttg>Ctg	p.L220L		NM_021255	NP_067078	Q9HAT8	PELI2_HUMAN	Homo sapiens pellino homolog 2 (Drosophila) (PELI2), mRNA.	220					MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						TGTGTACACCTTGCGAGAAAC	0.562000														100			12		0	0	0.001855	0	0
MYO1F	4542	broad.mit.edu	37	19	8595445	8595446	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:8595445_8595446CC>TT	uc002mkg.3	-	19	2193_2194	c.2055_2056GG>AA	c.(2053-2058)ctggag>ctAAag	p.E686K		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	686						unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity	p.L685M(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGCACCTCCTCCAGGAGGAAAA	0.649000														69			26		0	0	0.004672	0	0
UNC13B	10497	broad.mit.edu	37	9	35403756	35403756	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:35403756A>G	uc003zwr.3	+	39	4851	c.4559A>G	c.(4558-4560)aAt>aGt	p.N1520S	UNC13B_uc003zwq.3_Missense_Mutation_p.N1501S|ATP8B5P_uc010mko.3_5'Flank|ATP8B5P_uc010mkp.3_5'Flank|ATP8B5P_uc010mkn.2_5'Flank|ATP8B5P_uc003zwu.2_5'Flank	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	1501	C2 3.				excretion|induction of apoptosis|intracellular signal transduction	Golgi apparatus|cell junction|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CTCCTGGGAAATGAGGAGGGG	0.572000														41			18		0	0	0.006122	0	0
HIVEP1	3096	broad.mit.edu	37	6	12162052	12162053	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:12162052_12162053CC>TT	uc003nac.3	+	7	7047_7048	c.6868_6869CC>TT	c.(6868-6870)ccg>TTg	p.P2290L	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	2290					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CGACACAATTCCGTCTGTAGAC	0.505000														57			28		0	0	0.004672	0	0
ZDHHC9	51114	broad.mit.edu	37	X	128963076	128963076	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:128963076A>G	uc004euv.3	-	2	671	c.209T>C	c.(208-210)gTa>gCa	p.V70A	ZDHHC9_uc004euw.3_Missense_Mutation_p.V70A|ZDHHC9_uc004eux.1_Missense_Mutation_p.V70A|ZDHHC9_uc004euy.1_5'UTR	NM_001008222	NP_057116	Q9Y397	ZDHC9_HUMAN	Homo sapiens zinc finger, DHHC-type containing 9 (ZDHHC9), transcript variant 2, mRNA.	70						Golgi membrane|endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	19						GGCAGCAAATACAGGGATGGC	0.502000														34			13		0	0	0.003163	0	0
FAM47B	170062	broad.mit.edu	37	X	34962049	34962050	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:34962049_34962050GG>AA	uc004ddi.2	+	0	1137_1138	c.1101_1102GG>AA	c.(1099-1104)caggag>caAAag	p.E368K		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	368										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTGAGGGCCAGGAGATGACAAC	0.545000														7			12		0	0	0.004672	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199482	71199482	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:71199482C>T	uc001xmm.3	-	10	2604	c.2604G>A	c.(2602-2604)gaG>gaA	p.E868E	MAP3K9_uc010ttk.2_Silent_p.E596E|MAP3K9_uc001xmk.3_Silent_p.E601E|MAP3K9_uc001xml.3_Silent_p.E882E	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	868	Pro-rich.				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)		GGGGAGGGGCCTCGACTGGGC	0.572000														68			11		0	0	0.000978	0	0
ASXL3	80816	broad.mit.edu	37	18	31323920	31323920	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:31323920C>T	uc010dmg.1	+	11	4163	c.4108C>T	c.(4108-4110)Cct>Tct	p.P1370S	ASXL3_uc002kxq.2_Missense_Mutation_p.P1077S	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	1370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAACAGATTTCCTTCTGAGAA	0.498000											OREG0024911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		73			41		0	0	0.006230	0	0
PRRT3	285368	broad.mit.edu	37	3	9990874	9990874	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:9990874T>C	uc003bul.2	-	1	1056	c.926A>G	c.(925-927)cAg>cGg	p.Q309R	CIDEC_uc003bto.3_Intron|PRRT3_uc003buk.2_Non-coding_Transcript|PRRT3_uc003bum.3_Missense_Mutation_p.Q309R	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN	Homo sapiens proline-rich transmembrane protein 3 (PRRT3), mRNA.	309	Pro-rich.					integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						AAGGTCAGCCTGCTTGGGCGG	0.642000														84			31		0	0	0.002836	0	0
ZNF132	7691	broad.mit.edu	37	19	58944838	58944838	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:58944838A>G	uc002qst.4	-	2	2374	c.1973T>C	c.(1972-1974)aTc>aCc	p.I658T		NM_003433	NP_003424	P52740	ZN132_HUMAN	Homo sapiens zinc finger protein 132 (ZNF132), mRNA.	658						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_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;0.0171)|Lung(386;0.182)		TCCACACTGGATGCACTCATA	0.478000														24			5		0	0	0.000602	0	0
CRTC3	64784	broad.mit.edu	37	15	91169201	91169201	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:91169201C>A	uc002bpp.3	+	9	1049	c.943C>A	c.(943-945)Cac>Aac	p.H315N	CRTC3_uc002bpo.3_Missense_Mutation_p.H315N	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA.	315					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			TGCTATGACCCACCTGGGTAT	0.547000			T	MAML2	salivary gland mucoepidermoid									144			7		0.00448238	0.0077044	0.004482	1	0
C1S	716	broad.mit.edu	37	12	7171655	7171656	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:7171655_7171656CC>TT	uc001qsj.3	+	7	1195_1196	c.476_477CC>TT	c.(475-477)ccc>cTT	p.P159L	C1S_uc001qsk.3_Missense_Mutation_p.P159L|C1S_uc001qsl.3_Missense_Mutation_p.P159L|C1S_uc009zfr.3_5'UTR|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	159	EGF-like; calcium-binding.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TGCTCCTGCCCCCCGGAATATT	0.455000														88			49		0	0	0.004672	0	0
CDC27	996	broad.mit.edu	37	17	45234395	45234395	+	Silent	SNP	A	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:45234395A>T	uc002ile.4	-	6	853	c.726T>A	c.(724-726)ccT>ccA	p.P242P	CDC27_uc002ild.4_Silent_p.P242P|CDC27_uc002ilf.4_Silent_p.P242P|CDC27_uc010wkp.2_Silent_p.P181P|CDC27_uc010wkq.1_Non-coding_Transcript	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	242					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GGACAGTATCAGGTGAAATTA	0.358000														35			6		0	0	0.001984	0	0
PRRC2A	7916	broad.mit.edu	37	6	31604046	31604046	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:31604046A>G	uc003nvb.4	+	25	5934	c.5685A>G	c.(5683-5685)ttA>ttG	p.L1895L	PRRC2A_uc003nvc.4_Silent_p.L1895L	NM_080686	NP_542417	P48634	PRC2A_HUMAN	Homo sapiens proline-rich coiled-coil 2A (PRRC2A), transcript variant 1, mRNA.	1895			L -> V (in dbSNP:rs3132453).			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						TCTCTGGGTTAGCTCTCAAGG	0.547000														114			19		0	0	0.008871	0	0
CMPK2	129607	broad.mit.edu	37	2	6991653	6991653	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:6991653C>T	uc002qyo.3	-	3	1263	c.1154G>A	c.(1153-1155)aGg>aAg	p.R385K	CMPK2_uc002qyn.1_Non-coding_Transcript|CMPK2_uc010yis.1_Intron|CMPK2_uc010ewv.3_Missense_Mutation_p.R385K	NM_207315	NP_997198	Q5EBM0	CMPK2_HUMAN	Homo sapiens cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial (CMPK2), nuclear gene encoding mitochondrial protein, mRNA.	385					dTDP biosynthetic process	mitochondrion	ATP binding|UMP kinase activity|cytidylate kinase activity|thymidylate kinase activity	p.R385K(2)		large_intestine(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GCCCTGCAGCCTCTGCAACCT	0.567000														51			27		0	0	0.008361	0	0
PRR14	78994	broad.mit.edu	37	16	30664151	30664151	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:30664151C>G	uc002dyy.3	+	3	560	c.302C>G	c.(301-303)tCc>tGc	p.S101C	PRR14_uc002dyz.3_5'UTR|PRR14_uc002dza.3_Missense_Mutation_p.S101C|PRR14_uc002dzb.1_5'Flank	NM_024031	NP_076936	Q9BWN1	PRR14_HUMAN	Homo sapiens proline rich 14 (PRR14), mRNA.	101	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GCCGGGTGGTCCTCGCAGGCC	0.642000														30			4		0	0	0.000248	0	0
SLC34A2	10568	broad.mit.edu	37	4	25664141	25664141	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:25664141T>A	uc003grr.3	+	1	100	c.19T>A	c.(19-21)Ttg>Atg	p.L7M	SLC34A2_uc003grs.3_Missense_Mutation_p.L7M|SLC34A2_uc010iev.3_Missense_Mutation_p.L7M	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	7					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CTGGCCTGAATTGGGAGATGC	0.527000			T	ROS1	NSCLC									33			19		0	0	0.007413	0	0
MED7	9443	broad.mit.edu	37	5	156566260	156566260	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:156566260A>G	uc010jik.3	-	1	575	c.183T>C	c.(181-183)agT>agC	p.S61S	MED7_uc003lwm.4_Silent_p.S61S|MED7_uc021ygl.1_Silent_p.S61S	NM_001100816	NP_004261	O43513	MED7_HUMAN	Homo sapiens mediator complex subunit 7 (MED7), transcript variant 1, mRNA.	61					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	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)			CGATGCCCTGACTTTCCAAAG	0.403000														341			98		0	0	0.003610	0	0
abParts	0	broad.mit.edu	37	14	106471478	106471478	+	RNA	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:106471478G>A	uc021ser.1	-	2492		c.43512C>T								Parts of antibodies, mostly variable regions.																		AGCCTTGCAGGAAACCTTCAC	0.577000														72			7		0	0	0.004482	0	0
ZFP112	7771	broad.mit.edu	37	19	44891897	44891897	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:44891897G>A	uc010xxa.2	-	3	574	c.531C>T	c.(529-531)taC>taT	p.Y177Y	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Silent_p.Y170Y	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						TCTCTTCCATGTAAATTCCCT	0.478000														61			18		0	0	0.007413	0	0
KCTD4	386618	broad.mit.edu	37	13	45768425	45768425	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:45768425A>G	uc001uzx.4	-	1	682	c.278T>C	c.(277-279)cTa>cCa	p.L93P	GTF2F2_uc001uzw.3_Intron|KCTD4_uc021rjf.1_Missense_Mutation_p.L93P	NM_198404	NP_940686	Q8WVF5	KCTD4_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 4 (KCTD4), mRNA.	93	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8		Lung NSC(96;6.55e-05)|Breast(139;0.00378)|Prostate(109;0.00438)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000249)|BRCA - Breast invasive adenocarcinoma(63;0.207)		TCCATTTCGTAGGAAGTTTAG	0.438000														79			19		0	0	0.001523	0	0
SPEF2	79925	broad.mit.edu	37	5	35792479	35792479	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:35792479C>T	uc003jjo.3	+	30	4596	c.4485C>T	c.(4483-4485)atC>atT	p.I1495I	SPEF2_uc003jjp.1_Silent_p.I981I|SPEF2_uc003jjr.3_Silent_p.I550I	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1495					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)			ACATTCTGATCGATTTGGTGA	0.358000														59			35		0	0	0.003271	0	0
HRNR	388697	broad.mit.edu	37	1	152191823	152191823	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:152191823T>G	uc001ezt.1	-	2	2358	c.2282A>C	c.(2281-2283)cAa>cCa	p.Q761P		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	761					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCCGAAGATTGATGGGAGCC	0.582000														104			22		0	0	0.001882	0	0
HIST2H2BE	8349	broad.mit.edu	37	1	149857936	149857936	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:149857936G>C	uc001etc.3	-	0	297	c.255C>G	c.(253-255)aaC>aaG	p.N85K	HIST2H2AC_uc001etd.3_5'Flank	NM_003528	NP_003519	Q16778	H2B2E_HUMAN	Homo sapiens histone cluster 2, H2be (HIST2H2BE), mRNA.	85					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			TGGAGCGCTTGTTGTAGTGCG	0.657000														77			8		0	0	0.004482	0	0
FBN3	84467	broad.mit.edu	37	19	8190870	8190870	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:8190870G>A	uc002mjf.3	-	20	2654	c.2637C>T	c.(2635-2637)gtC>gtT	p.V879V		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	879	EGF-like 11; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						CGTTGGGACAGACTCCCGGGA	0.642000														33			18		0	0	0.006122	0	0
SYNE1	23345	broad.mit.edu	37	6	152553293	152553294	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:152553293_152553294GG>AA	uc021zhb.1	-	110	21042_21043	c.20819_20820CC>TT	c.(20818-20820)tcc>tTT	p.S6940F	SYNE1_uc003qos.4_Missense_Mutation_p.S1464F|SYNE1_uc003qot.4_Missense_Mutation_p.S6869F|SYNE1_uc003qou.4_Missense_Mutation_p.S6940F	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6940					Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TGTAACCTATGGAATTTTTAAT	0.292000										HNSCC(10;0.0054)				44			27		0	0	0.004672	0	0
ANO3	63982	broad.mit.edu	37	11	26620444	26620444	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:26620444A>G	uc001mqt.4	+	15	1715	c.1570A>G	c.(1570-1572)Atg>Gtg	p.M524V	ANO3_uc010rdr.2_Missense_Mutation_p.M508V|ANO3_uc010rds.2_Missense_Mutation_p.M363V|ANO3_uc010rdt.2_Missense_Mutation_p.M378V	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	524						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						GTATTACAAGATGGAGATTGT	0.393000														29			3		0	0	0.004672	0	0
COL5A2	1290	broad.mit.edu	37	2	189922126	189922126	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:189922126C>G	uc002uqk.3	-	33	2532	c.2257G>C	c.(2257-2259)Gga>Cga	p.G753R	COL5A2_uc010frx.3_Missense_Mutation_p.G329R	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	753					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCTGTATCTCCAGGGGTCCCA	0.438000														62			32		0	0	0.004878	0	0
SLCO3A1	28232	broad.mit.edu	37	15	92669426	92669427	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:92669426_92669427CC>TT	uc002bqx.2	+	5	1511_1512	c.1310_1311CC>TT	c.(1309-1311)tcc>tTT	p.S437F	SLCO3A1_uc002bqy.2_Missense_Mutation_p.S437F|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Missense_Mutation_p.S379F	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	437					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	p.V436I(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TGCTACGTCTCCTTCCTCTTCC	0.589000														59			19		0	0	0.004672	0	0
C9orf24	84688	broad.mit.edu	37	9	34379691	34379691	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:34379691A>G	uc003zuh.1	-	5	960	c.742T>C	c.(742-744)Tgc>Cgc	p.C248R	KIAA1161_uc003zue.4_5'Flank|C9orf24_uc003zug.1_Missense_Mutation_p.C113R|C9orf24_uc022bgb.1_Silent_p.C114C|C9orf24_uc003zuf.1_Silent_p.C61C|C9orf24_uc003zui.1_3'UTR	NM_032596	NP_115985	Q8NCR6	CI024_HUMAN	Homo sapiens chromosome 9 open reading frame 24 (C9orf24), transcript variant 1, mRNA.	248										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		TTGTAACAGCACACTGCATTC	0.567000											OREG0019150	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		124			18		0	0	0.001523	0	0
IFT172	26160	broad.mit.edu	37	2	27700134	27700134	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:27700134A>G	uc002rku.3	-	12	1326	c.1275T>C	c.(1273-1275)aaT>aaC	p.N425N	IFT172_uc002rkv.3_Silent_p.N399N|IFT172_uc010yls.2_Silent_p.N404N|IFT172_uc010ezc.3_Silent_p.N425N	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	425					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CCAGGGTGTCATTATTCCCAT	0.443000														115			65		0	0	0.003610	0	0
SEC62	7095	broad.mit.edu	37	3	169700534	169700534	+	Silent	SNP	A	G	G	rs140128825	byFrequency	TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:169700534A>G	uc003fgg.3	+	3	322	c.291A>G	c.(289-291)gtA>gtG	p.V97V	SEC62_uc003fgh.3_Silent_p.V97V	NM_003262	NP_003253	Q99442	SEC62_HUMAN	Homo sapiens SEC62 homolog (S. cerevisiae) (SEC62), mRNA.	97					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						CCCTAAAAGTAATGAAAATGA	0.308000														78			47		0	0	0.003610	0	0
GRID2	2895	broad.mit.edu	37	4	94137898	94137898	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:94137898G>A	uc011cdt.2	+	5	1057	c.799G>A	c.(799-801)Gat>Aat	p.D267N	GRID2_uc010ikx.3_Missense_Mutation_p.D267N|GRID2_uc011cdu.2_Missense_Mutation_p.D172N|GRID2_uc010ikz.1_5'UTR	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	267					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGAAATAAACGATGTGGACGT	0.378000														76			23		0	0	0.004656	0	0
COL23A1	91522	broad.mit.edu	37	5	177688739	177688739	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:177688739C>T	uc021yiz.1	-	10	1044	c.686G>A	c.(685-687)gGa>gAa	p.G229E	COL23A1_uc021yiy.1_Missense_Mutation_p.G5E|COL23A1_uc010jkt.2_Missense_Mutation_p.D77N	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	229	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)		CCCTGGGGGTCCCTTTGGGCC	0.562000														23			19		0	0	0.003954	0	0
TCF15	6939	broad.mit.edu	37	20	590585	590585	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:590585G>C	uc002wdz.3	-	0	326	c.297C>G	c.(295-297)atC>atG	p.I99M		NM_004609	NP_004600	Q12870	TCF15_HUMAN	Homo sapiens transcription factor 15 (basic helix-loop-helix) (TCF15), mRNA.	99	Helix-loop-helix motif.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|lung(2)|prostate(1)	4		Breast(17;0.231)				GCTCGGTGGGGATGAGCGTGC	0.706000														10			3		0	0	0.000248	0	0
ADCY1	107	broad.mit.edu	37	7	45717529	45717529	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:45717529T>C	uc003tne.4	+	8	1685	c.1667T>C	c.(1666-1668)gTt>gCt	p.V556A		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	556					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			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)	TCTACCAACGTTGTCTACACC	0.507000														89			15		0	0	0.004990	0	0
COL7A1	1294	broad.mit.edu	37	3	48630557	48630557	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:48630557A>G	uc003ctz.2	-	4	661	c.660T>C	c.(658-660)ggT>ggC	p.G220G		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	220	Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGGCACGCCACCAGCAGTCG	0.587000														44			6		0	0	0.001984	0	0
TCF4	6925	broad.mit.edu	37	18	52921859	52921859	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:52921859G>A	uc002lga.3	-	15	1585	c.1525C>T	c.(1525-1527)Cca>Tca	p.P509S	TCF4_uc021ukg.1_Missense_Mutation_p.P247S|TCF4_uc021ukh.1_Missense_Mutation_p.P247S|TCF4_uc002lfw.4_Missense_Mutation_p.P247S|TCF4_uc010xdu.1_Missense_Mutation_p.P277S|TCF4_uc010xdv.1_Missense_Mutation_p.P277S|TCF4_uc021uki.1_Missense_Mutation_p.P336S|TCF4_uc002lfx.2_Missense_Mutation_p.P336S|TCF4_uc010xdw.1_Missense_Mutation_p.P277S|TCF4_uc002lfy.2_Missense_Mutation_p.P365S|TCF4_uc010xdx.1_Missense_Mutation_p.P383S|TCF4_uc021ukj.1_Missense_Mutation_p.P347S|TCF4_uc021ukk.1_Missense_Mutation_p.P347S|TCF4_uc021ukl.1_Missense_Mutation_p.P404S|TCF4_uc002lfz.2_Missense_Mutation_p.P407S|TCF4_uc010dph.1_Missense_Mutation_p.P407S|TCF4_uc010dpi.3_Missense_Mutation_p.P413S|TCF4_uc010xdy.1_Missense_Mutation_p.P383S	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	407					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|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|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding|protein C-terminus binding|protein heterodimerization activity|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity			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)		GCTGTGGATGGGCCCACTGCA	0.478000														17			14		0	0	0.001855	0	0
SACM1L	22908	broad.mit.edu	37	3	45779074	45779074	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:45779074G>A	uc003cos.2	+	15	1444	c.1240_splice	c.e15-1	p.R414_splice	SACM1L_uc011bag.1_Splice_Site_p.R311_splice|SACM1L_uc011bah.1_Splice_Site_p.R348_splice|SACM1L_uc003cot.2_Splice_Site_p.R57_splice	NM_014016	NP_054735	Q9NTJ5	SAC1_HUMAN	Homo sapiens SAC1 suppressor of actin mutations 1-like (yeast) (SACM1L), mRNA.	414	SAC.					Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		TTTTATTCCAGAGACTAGGAG	0.348000														106			40		0	0	0.003214	0	0
GOLIM4	27333	broad.mit.edu	37	3	167747058	167747058	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:167747058T>G	uc011bpe.1	-	10	1810	c.1466A>C	c.(1465-1467)gAt>gCt	p.D489A	GOLIM4_uc003ffe.2_Missense_Mutation_p.D489A|GOLIM4_uc011bpf.1_Missense_Mutation_p.D461A|GOLIM4_uc011bpg.1_Missense_Mutation_p.D461A	NM_014498	NP_055313	O00461	GOLI4_HUMAN	Homo sapiens golgi integral membrane protein 4 (GOLIM4), mRNA.	489	Gln-rich.|Glu-rich.				transport	Golgi cisterna membrane|Golgi lumen|cis-Golgi network|endocytic vesicle|endosome membrane|integral to membrane|nucleus				breast(5)|endometrium(2)|large_intestine(8)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CTGAACGATATCATTATCCAT	0.408000														49			17		0	0	0.004007	0	0
BC011998	0	broad.mit.edu	37	5	164028140	164028140	+	RNA	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:164028140G>A	uc003lzn.3	+	2		c.318G>A								Homo sapiens, clone IMAGE:4479080, mRNA, partial cds.																		CCACCTGGTTGAAGGTCTTGC	0.592000														5			6		0	0	0.001168	0	0
NME8	51314	broad.mit.edu	37	7	37907318	37907318	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:37907318G>T	uc003tfn.3	+	10	1008	c.636G>T	c.(634-636)gaG>gaT	p.E212D		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	212	NDK 1.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										ACTTCGAAGAGTTTGTCTCTT	0.383000														60			6		2.0095e-06	3.5038e-06	0.001984	1	0
EPC1	80314	broad.mit.edu	37	10	32560702	32560702	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:32560702T>C	uc001iwg.1	-	13	2488	c.2218A>G	c.(2218-2220)Act>Gct	p.T740A	EPC1_uc001iwi.3_Missense_Mutation_p.T667A|EPC1_uc001iwh.1_Missense_Mutation_p.T717A	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	Homo sapiens enhancer of polycomb homolog 1 (Drosophila) (EPC1), mRNA.	740					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex|nuclear membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TTGGCAGCAGTTACTTGATGA	0.418000														126			19		0	0	0.002299	0	0
FAT1	2195	broad.mit.edu	37	4	187541983	187541984	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:187541983_187541984GG>AA	uc003izf.3	-	9	5944_5945	c.5756_5757CC>TT	c.(5755-5757)acc>aTT	p.T1919I		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	1919	Cadherin 17.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.T1919T(2)|p.T1922T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGTTGCCTTCGGTGATGGAGTA	0.426000										HNSCC(5;0.00058)				42			25		0	0	0.004672	0	0
TPM4	7171	broad.mit.edu	37	19	16204522	16204522	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:16204522G>C	uc002ndi.2	+	7	849	c.731G>C	c.(730-732)aGa>aCa	p.R244T	TPM4_uc002ndj.2_Missense_Mutation_p.R208T|TPM4_uc002ndk.1_Missense_Mutation_p.R118T	NM_001145160	NP_001138632	P67936	TPM4_HUMAN	Homo sapiens tropomyosin 4 (TPM4), transcript variant 1, mRNA.	208					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						TTTGCAGAGAGAACGGTTGCA	0.493000			T	ALK	ALCL									39			7		0	0	0.003080	0	0
OR4K1	79544	broad.mit.edu	37	14	20404621	20404621	+	Missense_Mutation	SNP	C	T	T	rs147347995		TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:20404621C>T	uc001vwj.2	+	0	855	c.796C>T	c.(796-798)Cct>Tct	p.P266S		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P266S(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TAGCAGACTTCCTGTGGACAA	0.413000														150			32		0	0	0.002096	0	0
SPRY3	10251	broad.mit.edu	37	X	155003646	155003647	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:155003646_155003647CC>TT	uc022cio.1	+	0	113_114	c.113_114CC>TT	c.(112-114)gcc>gTT	p.A38V	SPRY3_uc004fnq.1_Missense_Mutation_p.A38V	NM_005840	NP_005831	O43610	SPY3_HUMAN	Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.	38					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGTAAACAGGCCCTCTCCAGCC	0.525000														53			58		0	0	0.004672	0	0
CDKAL1	54901	broad.mit.edu	37	6	21000535	21000535	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:21000535A>G	uc003ndd.2	+	10	1154	c.987A>G	c.(985-987)gtA>gtG	p.V329V	CDKAL1_uc003nde.2_Silent_p.V259V|CDKAL1_uc021ymk.1_Silent_p.V329V	NM_017774	NP_060244	Q5VV42	CDKAL_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 1-like 1 (CDKAL1), mRNA.	329					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			CCGACAGCGTACTCATGGAAA	0.388000														388			72		0	0	0.003610	0	0
DONSON	29980	broad.mit.edu	37	21	35276277	35276277	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr21:35276277A>G	uc002ytl.3	-	5	581	c.490T>C	c.(490-492)Ttc>Ctc	p.F164L	DONSON_uc002ysn.1_Intron	NM_001697	NP_001688	Q9NYP3	DONS_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit (ATP5O), nuclear gene encoding mitochondrial protein, mRNA.	0					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						TGACTTAGGAAGCTCTTGAGG	0.363000														64			5		0	0	0.004482	0	0
USP19	10869	broad.mit.edu	37	3	49152456	49152456	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:49152456T>G	uc003cwd.2	-	12	2127	c.1808A>C	c.(1807-1809)gAc>gCc	p.D603A	USP19_uc003cwa.3_Missense_Mutation_p.D411A|USP19_uc003cwb.3_Intron|USP19_uc003cvz.4_Missense_Mutation_p.D706A|USP19_uc011bcg.2_Missense_Mutation_p.D694A|USP19_uc003cwc.2_Missense_Mutation_p.D361A|USP19_uc011bch.2_Missense_Mutation_p.D704A	NM_006677	NP_006668	O94966	UBP19_HUMAN	Homo sapiens ubiquitin specific peptidase 19 (USP19), transcript variant 4, mRNA.	603					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GCGATTCAGGTCCTCGTGCAG	0.572000														28			15		0	0	0.003163	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47247031	47247031	+	Silent	SNP	C	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:47247031C>A	uc002ion.2	+	10	1701	c.1642C>A	c.(1642-1644)Cgg>Agg	p.R548R	B4GALNT2_uc010wlt.1_Silent_p.R462R|B4GALNT2_uc010wlu.1_Silent_p.R488R	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	548					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	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)			CACCCTCACCCGGGTCCAGTT	0.522000														40			9		2.17888e-05	3.78234e-05	0.006214	1	0
WNT7A	7476	broad.mit.edu	37	3	13916496	13916496	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:13916496C>T	uc003bye.1	-	1	551	c.246G>A	c.(244-246)tgG>tgA	p.W82*		NM_004625	NP_004616	O00755	WNT7A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 7A (WNT7A), mRNA.	82					Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway|activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of JNK cascade|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	p.R81C(1)|p.R81S(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CAGAGCAGTTCCAGCGGCCAT	0.602000														32			16		0	0	0.006122	0	0
B3GALNT1	8706	broad.mit.edu	37	3	160803777	160803777	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:160803777T>C	uc003fdv.3	-	4	1185	c.766A>G	c.(766-768)Atg>Gtg	p.M256V	B3GALNT1_uc003fdw.3_Missense_Mutation_p.M256V|B3GALNT1_uc003fdx.3_Missense_Mutation_p.M256V|B3GALNT1_uc003fdy.3_Missense_Mutation_p.M256V|B3GALNT1_uc003fdz.3_Missense_Mutation_p.M256V|B3GALNT1_uc003fea.3_Missense_Mutation_p.M256V|B3GALNT1_uc011bpa.2_Intron|B3GALNT1_uc021xgw.1_Missense_Mutation_p.M256V	NM_033169	NP_149359	O75752	B3GL1_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) (B3GALNT1), transcript variant 4, mRNA.	256					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity|galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			TGACCCATCATTTCATAGATC	0.383000														58			15		0	0	0.007413	0	0
LOC100132352	100132352	broad.mit.edu	37	9	68728848	68728848	+	RNA	SNP	A	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:68728848A>C	uc022bhu.1	+	2		c.633A>C			LOC100132352_uc010mnp.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC100132352), non-coding RNA.																		aagaagaaaaagagcaaagat	0.279000														25			10		0	0	0.006214	0	0
PITPNA	5306	broad.mit.edu	37	17	1438752	1438752	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:1438752A>G	uc021tng.1	-	7	773	c.517T>C	c.(517-519)Ttg>Ctg	p.L173L	PITPNA_uc021tnf.1_Silent_p.L82L|PITPNA_uc010cjt.3_Silent_p.L57L	NM_006224	NP_006215	Q00169	PIPNA_HUMAN	Homo sapiens phosphatidylinositol transfer protein, alpha (PITPNA), mRNA.	173					axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		TTGGGGCCCAAGGGTCCTCGG	0.567000														29			4		0	0	0.000602	0	0
TCF20	6942	broad.mit.edu	37	22	42609368	42609368	+	Silent	SNP	A	G	G	rs139885100		TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:42609368A>G	uc003bcj.1	-	0	2078	c.1944T>C	c.(1942-1944)agT>agC	p.S648S	TCF20_uc003bck.1_Silent_p.S648S	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GTGATGCATGACTGGTTTCCT	0.527000														54			15		0	0	0.002450	0	0
CLN3	1201	broad.mit.edu	37	16	28493470	28493470	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:28493470G>A	uc002dpo.3	-	12	1335	c.1012C>T	c.(1012-1014)Cgc>Tgc	p.R338C	NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_Missense_Mutation_p.R260C|CLN3_uc002dpm.3_Missense_Mutation_p.R284C|CLN3_uc010vcu.2_Missense_Mutation_p.R238C|CLN3_uc010vcv.2_Missense_Mutation_p.R314C|CLN3_uc002dpp.3_Missense_Mutation_p.R338C|CLN3_uc021tfs.1_Missense_Mutation_p.R185C|CLN3_uc002dpt.1_Missense_Mutation_p.R238C|CLN3_uc002dpq.1_Missense_Mutation_p.R290C|CLN3_uc010bye.1_Missense_Mutation_p.R321C|CLN3_uc002dpr.1_Non-coding_Transcript|CLN3_uc010byf.1_Non-coding_Transcript|CLN3_uc002dps.1_Missense_Mutation_p.R211C|CLN3_uc002dpu.1_Missense_Mutation_p.R236C|CLN3_uc002dpw.1_Missense_Mutation_p.R185C|CLN3_uc010vcw.1_3'UTR	NM_000086	NP_001035897	Q13286	CLN3_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA.	338					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	Golgi membrane|Golgi stack|autophagic vacuole|caveola|cytosol|early endosome|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						CGACAGCAGCGGAGAGAAGAG	0.642000														15			8		0	0	0.003080	0	0
TM9SF4	9777	broad.mit.edu	37	20	30730789	30730789	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:30730789A>G	uc002wxj.2	+	5	768	c.533A>G	c.(532-534)tAc>tGc	p.Y178C	TM9SF4_uc010ztr.1_Missense_Mutation_p.Y104C|TM9SF4_uc010zts.1_Missense_Mutation_p.Y85C|TM9SF4_uc002wxk.2_Missense_Mutation_p.Y161C	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	178						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TTTCAGATCTACCTGCACAAC	0.517000														56			9		0	0	0.006214	0	0
PREX2	80243	broad.mit.edu	37	8	69033271	69033271	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:69033271G>A	uc003xxv.1	+	29	3738	c.3711G>A	c.(3709-3711)agG>agA	p.R1237R		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1237					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity|protein binding	p.R1237R(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGAACATCAGGAAATTTGTTG	0.403000														44			48		0	0	0.003610	0	0
TESPA1	9840	broad.mit.edu	37	12	55356843	55356843	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:55356843C>T	uc010spd.1	-	8	972	c.839G>A	c.(838-840)aGa>aAa	p.R280K	TESPA1_uc001sgl.3_Missense_Mutation_p.R142K|TESPA1_uc001sgm.3_Missense_Mutation_p.R27K|TESPA1_uc010spb.1_Missense_Mutation_p.R27K|TESPA1_uc010spc.1_Missense_Mutation_p.R142K|TESPA1_uc001sgn.3_Missense_Mutation_p.R280K	NM_001136030	NP_001092285	A2RU30	K0748_HUMAN	Homo sapiens KIAA0748 (KIAA0748), mRNA.	280																	AAGGCGGTCTCTGGGTGACTG	0.547000														27			13		0	0	0.001855	0	0
TET2	54790	broad.mit.edu	37	4	106156079	106156079	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:106156079C>T	uc011cez.2	+	2	1448	c.1043C>T	c.(1042-1044)tCa>tTa	p.S348L	TET2_uc003hxk.3_Missense_Mutation_p.S327L|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.S327L|TET2_uc010ilp.2_Missense_Mutation_p.S327L|TET2_uc021xql.1_Missense_Mutation_p.S327L	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	327					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.S327fs*1(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CAACAAAAATCAGTTTTTGAG	0.423000			"""Mis N, F"""		MDS									11			18		0	0	0.002299	0	0
DICER1	23405	broad.mit.edu	37	14	95583017	95583017	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:95583017G>A	uc001ydw.2	-	10	1737	c.1525C>T	c.(1525-1527)Cga>Tga	p.R509*	DICER1_uc021sbc.1_Nonsense_Mutation_p.R509*|DICER1_uc001ydv.2_Nonsense_Mutation_p.R499*|DICER1_uc001ydx.2_Nonsense_Mutation_p.R509*	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	509	Helicase C-terminal.|Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of Schwann cell differentiation|positive regulation of myelination|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TCATGTGCTCGAAATTTCCTA	0.333000			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome					231			109		0	0	0.003610	0	0
PNPLA7	375775	broad.mit.edu	37	9	140356702	140356702	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:140356702A>G	uc010ncj.1	-	30	3911	c.3574T>C	c.(3574-3576)Tac>Cac	p.Y1192H	PNPLA7_uc004cnd.1_Missense_Mutation_p.Y414H|PNPLA7_uc004cne.1_Missense_Mutation_p.Y433H|PNPLA7_uc011mfa.1_Missense_Mutation_p.Y575H|PNPLA7_uc004cnf.2_Missense_Mutation_p.Y1167H|NELF_uc004cna.3_5'Flank|NELF_uc004cnb.3_5'Flank|NELF_uc004cmz.3_5'Flank|NELF_uc011mez.2_5'Flank|NELF_uc004cnc.3_5'Flank|NELF_uc022bqi.1_5'Flank	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	1167					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)		TACTCGCAGTAGTCACTGCTC	0.642000														45			13		0	0	0.002450	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192910	132192910	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:132192910G>A	uc003vra.4	-	1	772	c.543C>T	c.(541-543)gaC>gaT	p.D181D	PLXNA4_uc003vrc.2_Silent_p.D181D|PLXNA4_uc003vrb.3_Silent_p.D181D	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	181	Sema.					integral to membrane|intracellular|plasma membrane		p.D180H(1)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGAACAGCTTGTCATCCAGGT	0.537000														168			20		0	0	0.003954	0	0
ESRRG	2104	broad.mit.edu	37	1	216850609	216850609	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:216850609C>T	uc001hkw.2	-	1	454	c.281G>A	c.(280-282)aGt>aAt	p.S94N	ESRRG_uc009xdp.1_Missense_Mutation_p.S71N|ESRRG_uc001hky.1_Missense_Mutation_p.S71N|ESRRG_uc001hkz.2_Missense_Mutation_p.S71N|ESRRG_uc010puc.2_Missense_Mutation_p.S71N|ESRRG_uc001hla.2_Missense_Mutation_p.S71N|ESRRG_uc001hlb.2_Missense_Mutation_p.S71N|ESRRG_uc010pud.2_Intron|ESRRG_uc021pja.1_Intron|ESRRG_uc001hlc.1_Missense_Mutation_p.S71N|ESRRG_uc001hld.1_Missense_Mutation_p.S71N|ESRRG_uc001hkx.2_Missense_Mutation_p.S99N|ESRRG_uc009xdo.2_Missense_Mutation_p.S71N|ESRRG_uc001hle.2_Missense_Mutation_p.S71N|ESRRG_uc021piz.1_Missense_Mutation_p.S71N	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	94					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.G93C(1)		endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	GACAGGCCCACTACCTCCCAG	0.522000														120			25		0	0	0.003954	0	0
FAM91A1	157769	broad.mit.edu	37	8	124797899	124797899	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:124797899T>C	uc003yqv.3	+	10	941	c.880T>C	c.(880-882)Ttt>Ctt	p.F294L	FAM91A1_uc011lik.1_Missense_Mutation_p.F294L|FAM91A1_uc011lil.2_Missense_Mutation_p.F52L	NM_144963	NP_659400	Q658Y4	F91A1_HUMAN	Homo sapiens family with sequence similarity 91, member A1 (FAM91A1), mRNA.	294										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CCGATTGGGCTTTGCCCATAA	0.303000														142			18		0	0	0.001882	0	0
TRRAP	8295	broad.mit.edu	37	7	98529167	98529167	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:98529167A>G	uc003upp.3	+	25	3940	c.3731A>G	c.(3730-3732)gAc>gGc	p.D1244G	TRRAP_uc011kis.2_Missense_Mutation_p.D1244G|TRRAP_uc003upr.3_Missense_Mutation_p.D936G	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1244					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTGACACACGACTTGGTTCGA	0.562000														28			5		0	0	0.001984	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144852413	144852413	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:144852413A>G	uc021ouh.1	-	43	7332	c.7030T>C	c.(7030-7032)Tcc>Ccc	p.S2344P	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_3'UTR|PDE4DIP_uc001elx.4_3'UTR|PDE4DIP_uc001elv.4_3'UTR	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1955					cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTTTTAAGGACTTCTGGTGG	0.552000			T	PDGFRB	MPD									70			6		0	0	0.001984	0	0
CATSPERD	257062	broad.mit.edu	37	19	5772937	5772937	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:5772937G>A	uc002mda.3	+	19	1963	c.1902G>A	c.(1900-1902)atG>atA	p.M634I		NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	634						integral to membrane		p.M634I(1)									GGACCACCATGATAAAGGAAT	0.557000														24			21		0	0	0.001882	0	0
COL4A3	1285	broad.mit.edu	37	2	228155481	228155481	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:228155481G>A	uc002vom.2	+	36	3251	c.3089G>A	c.(3088-3090)gGa>gAa	p.G1030E	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	1030	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)		GGAAAAAGGGGAACTTTGGGA	0.428000														42			15		0	0	0.006122	0	0
KRT4	3851	broad.mit.edu	37	12	53202189	53202189	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:53202189C>T	uc001saz.3	-	5	1236	c.1236G>A	c.(1234-1236)caG>caA	p.Q412Q		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	338						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CAACCGAGATCTGGAGCTGCT	0.502000														46			27		0	0	0.001786	0	0
UBAP2	55833	broad.mit.edu	37	9	33971691	33971691	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:33971691C>T	uc003ztq.1	-	7	750	c.637G>A	c.(637-639)Gta>Ata	p.V213I	UBAP2_uc011loc.1_Intron|UBAP2_uc011lod.1_Intron|UBAP2_uc011loe.1_Intron|UBAP2_uc011lof.1_Missense_Mutation_p.V138I|UBAP2_uc011log.1_Intron|UBAP2_uc003ztr.2_Intron	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	213										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TCCCAAACTACTAGCTTTGTC	0.383000														204			27		0	0	0.002836	0	0
NUMB	8650	broad.mit.edu	37	14	73743497	73743497	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:73743497T>C	uc001xny.1	-	12	2065	c.1745A>G	c.(1744-1746)cAc>cGc	p.H582R	NUMB_uc010aro.1_Missense_Mutation_p.H387R|NUMB_uc010arp.1_Missense_Mutation_p.H376R|NUMB_uc010arq.1_Missense_Mutation_p.H436R|NUMB_uc010arr.1_Missense_Mutation_p.H425R|NUMB_uc001xoa.1_Missense_Mutation_p.H534R|NUMB_uc001xnz.1_Missense_Mutation_p.H571R|NUMB_uc001xob.1_Missense_Mutation_p.H523R|NUMB_uc001xod.1_Missense_Mutation_p.H534R|NUMB_uc001xoc.1_Missense_Mutation_p.H582R|NUMB_uc010ars.1_Missense_Mutation_p.H571R|NUMB_uc010ttz.1_Missense_Mutation_p.H280R|NUMB_uc001xoe.3_Non-coding_Transcript	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	Homo sapiens numb homolog (Drosophila) (NUMB), transcript variant 1, mRNA.	582					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		ACCGTTGAGGTGCTGAGCAGG	0.562000														43			4		0	0	0.000248	0	0
LRRC3B	116135	broad.mit.edu	37	3	26751350	26751350	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:26751350C>T	uc003cdp.3	+	1	776	c.187C>T	c.(187-189)Cct>Tct	p.P63S	LRRC3B_uc003cdq.3_Missense_Mutation_p.P63S|LRRC3B_uc021wuj.1_Missense_Mutation_p.P63S	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	63	LRRNT.					integral to membrane		p.P63P(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TAGAGATCTTCCTCCTGAAAC	0.428000														52			27		0	0	0.006320	0	0
APOB	338	broad.mit.edu	37	2	21232936	21232936	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:21232936C>G	uc002red.3	-	25	6932	c.6804G>C	c.(6802-6804)caG>caC	p.Q2268H		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2268					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTCTCTTAAGCTGCTGCAGTT	0.358000														655			35		0	0	0.003271	0	0
KIAA1841	84542	broad.mit.edu	37	2	61319682	61319682	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:61319682G>T	uc002saw.4	+	10	1475	c.1172G>T	c.(1171-1173)tGg>tTg	p.W391L	KIAA1841_uc002sax.4_Missense_Mutation_p.W245L|KIAA1841_uc002say.3_Missense_Mutation_p.W391L	NM_001129993	NP_001123465	Q6NSI8	K1841_HUMAN	Homo sapiens KIAA1841 (KIAA1841), transcript variant 1, mRNA.	391										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TGGCGATTGTGGGGAACAATC	0.343000														93			17		2.35188e-11	4.12367e-11	0.006122	1	0
ATXN2L	11273	broad.mit.edu	37	16	28841310	28841310	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:28841310C>G	uc002dqy.3	+	7	1132	c.965C>G	c.(964-966)aCt>aGt	p.T322S	NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Missense_Mutation_p.T322S|ATXN2L_uc002dqz.3_Missense_Mutation_p.T322S|ATXN2L_uc002dra.3_Missense_Mutation_p.T322S|ATXN2L_uc002drb.3_Missense_Mutation_p.T322S|ATXN2L_uc002drc.3_Missense_Mutation_p.T322S|ATXN2L_uc010vdb.2_Missense_Mutation_p.T322S|ATXN2L_uc002dre.3_Missense_Mutation_p.T322S|ATXN2L_uc002drf.3_5'UTR	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	322						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GATGGGCGCACTGAAGAGGAG	0.612000														20			11		0	0	0.000978	0	0
PLEC	5339	broad.mit.edu	37	8	144991141	144991141	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:144991141A>G	uc003zaf.1	-	31	13429	c.13259T>C	c.(13258-13260)aTc>aCc	p.I4420T	PLEC_uc003zab.1_Missense_Mutation_p.I4283T|PLEC_uc003zac.1_Missense_Mutation_p.I4287T|PLEC_uc003zad.2_Missense_Mutation_p.I4283T|PLEC_uc003zae.1_Missense_Mutation_p.I4251T|PLEC_uc003zag.1_Missense_Mutation_p.I4261T|PLEC_uc003zah.2_Missense_Mutation_p.I4269T|PLEC_uc003zaj.2_Missense_Mutation_p.I4310T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4420	Globular 2.				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						CGTGTCCAGGATGCCAGCCAC	0.677000														86			12		0	0	0.000978	0	0
BACE1	23621	broad.mit.edu	37	11	117163893	117163893	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:117163893A>G	uc001pqz.3	-	4	1178	c.717T>C	c.(715-717)ggT>ggC	p.G239G	BACE1_uc001pqw.3_Silent_p.G214G|BACE1_uc001pqx.3_Silent_p.G170G|BACE1_uc001pqy.3_Silent_p.G195G|BACE1_uc010rxg.2_Silent_p.G114G|BACE1_uc010rxh.2_Silent_p.G139G|BACE1_uc009yzo.1_5'Flank|AB488780_uc021qqx.1_Non-coding_Transcript	NM_012104	NP_036236	P56817	BACE1_HUMAN	Homo sapiens beta-site APP-cleaving enzyme 1 (BACE1), transcript variant a, mRNA.	239					beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		AGTGGTCGATACCTCCAATGA	0.512000														29			21		0	0	0.003954	0	0
TLR9	54106	broad.mit.edu	37	3	52258079	52258079	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:52258079G>T	uc003ddb.3	-	4	754	c.544C>A	c.(544-546)Cac>Aac	p.H182N	TLR9_uc003dda.2_Missense_Mutation_p.H85N|TLR9_uc003ddc.1_Missense_Mutation_p.H70N	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	85					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	CTGGGCAGGTGGGCAAAGTCA	0.617000														69			10		3.07112e-06	5.34892e-06	0.000978	1	0
UNKL	64718	broad.mit.edu	37	16	1416299	1416300	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:1416299_1416300GG>AA	uc010brn.2	-	14	1997_1998	c.1984_1985CC>TT	c.(1984-1986)ccg>TTg	p.P662L	UNKL_uc002cln.3_Missense_Mutation_p.P214L|UNKL_uc002clp.3_Missense_Mutation_p.P164L|UNKL_uc002clo.3_Missense_Mutation_p.P211L	NM_001193388	NP_001180317	Q9H9P5	UNKL_HUMAN	Homo sapiens unkempt homolog (Drosophila)-like (UNKL), transcript variant 1, mRNA.	662						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				GGCCGCACACGGCTCACAGAGG	0.698000														8			7		0	0	0.004672	0	0
CDK20	23552	broad.mit.edu	37	9	90584717	90584717	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:90584717G>A	uc004apr.3	-	5	1015	c.681C>T	c.(679-681)gtC>gtT	p.V227V	CDK20_uc004aps.3_Silent_p.V206V|CDK20_uc022bjj.1_Silent_p.V206V|CDK20_uc004apt.3_Silent_p.V219V|CDK20_uc004apu.3_Intron	NM_001039803	NP_001034892	Q8IZL9	CDK20_HUMAN	Homo sapiens cyclin-dependent kinase 20 (CDK20), transcript variant 3, mRNA.	227	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						AAACCGGCCAGACTTGAGGGT	0.567000														48			14		0	0	0.003163	0	0
DENND2C	163259	broad.mit.edu	37	1	115137163	115137163	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:115137163G>A	uc001efd.1	-	17	3064	c.2362C>T	c.(2362-2364)Caa>Taa	p.Q788*	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Nonsense_Mutation_p.Q731*	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	788										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)		AGGGCAGCTTGAAGTTTTGGT	0.363000														73			41		0	0	0.008740	0	0
OSBPL1A	114876	broad.mit.edu	37	18	21819272	21819272	+	Silent	SNP	A	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:21819272A>C	uc002kve.3	-	15	1573	c.1356T>G	c.(1354-1356)acT>acG	p.T452T	OSBPL1A_uc002kvd.3_5'UTR|OSBPL1A_uc010xbc.2_Silent_p.T70T|OSBPL1A_uc002kvf.3_Silent_p.T232T	NM_080597	NP_542164	Q9BXW6	OSBL1_HUMAN	Homo sapiens oxysterol binding protein-like 1A (OSBPL1A), transcript variant 2, mRNA.	452					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CATGATGTTCAGTGGCCAGCG	0.443000														55			12		0	0	0.002450	0	0
TTN	7273	broad.mit.edu	37	2	179598380	179598380	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:179598380C>G	uc021vsy.1	-	49	12229	c.12004G>C	c.(12004-12006)Gct>Cct	p.A4002P	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A663P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4929							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)			TGGCTTCCAGCTTCATTTTCA	0.358000														97			20		0	0	0.007413	0	0
PCDH15	65217	broad.mit.edu	37	10	55582479	55582479	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:55582479G>A	uc010qhy.1	-	34	5423	c.5028C>T	c.(5026-5028)ttC>ttT	p.F1676F	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.F1671F|PCDH15_uc021pqz.1_Silent_p.F1646F|PCDH15_uc010qhv.1_Silent_p.F1666F|PCDH15_uc010qhw.1_Silent_p.F1629F|PCDH15_uc010qhx.1_Silent_p.F1600F|PCDH15_uc010qhz.1_Silent_p.F1671F|PCDH15_uc010qia.1_Silent_p.F1649F|PCDH15_uc001jju.1_Silent_p.F1669F|PCDH15_uc010qib.1_Silent_p.F1646F	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1669					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)				TGGAGAATGAGAAGTGAGGCC	0.418000										HNSCC(58;0.16)				18			32		0	0	0.002445	0	0
SMC4	10051	broad.mit.edu	37	3	160141612	160141612	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:160141612A>G	uc003fdh.3	+	14	2422	c.2309A>G	c.(2308-2310)gAa>gGa	p.E770G	IFT80_uc003fda.3_Intron|SMC4_uc010hwc.1_Missense_Mutation_p.E534G|SMC4_uc003fdi.3_Missense_Mutation_p.E745G|SMC4_uc003fdj.3_Missense_Mutation_p.E770G|SMC4_uc010hwd.3_Missense_Mutation_p.E770G|SMC4_uc003fdl.3_Missense_Mutation_p.E473G	NM_001002800	NP_005487	Q9NTJ3	SMC4_HUMAN	Homo sapiens structural maintenance of chromosomes 4 (SMC4), transcript variant 2, mRNA.	770					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTTGTTATTGAAATCTCTGAA	0.368000														53			8		0	0	0.004482	0	0
ZNF440	126070	broad.mit.edu	37	19	11942549	11942549	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:11942549T>C	uc002msp.1	+	3	714	c.558T>C	c.(556-558)agT>agC	p.S186S	ZNF440_uc021upk.1_5'Flank	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	Homo sapiens zinc finger protein 440 (ZNF440), mRNA.	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCCATTCAAGTGTTCGAAGAC	0.398000														86			14		0	0	0.006122	0	0
IDH3G	3421	broad.mit.edu	37	X	153055231	153055231	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:153055231A>G	uc004fip.3	-	4	468	c.282T>C	c.(280-282)aaT>aaC	p.N94N	IDH3G_uc004fiq.3_Silent_p.N94N|IDH3G_uc004fit.1_Silent_p.N94N|IDH3G_uc004fiu.3_5'Flank	NM_004135	NP_004126	P51553	IDH3G_HUMAN	Homo sapiens isocitrate dehydrogenase 3 (NAD+) gamma (IDH3G), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	94					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|NAD binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	CTTCATCAGCATTGGAACTCA	0.642000														14			5		0	0	0.001168	0	0
ABCF2	10061	broad.mit.edu	37	7	150921023	150921023	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:150921023T>C	uc003wjo.1	-	3	656	c.545A>G	c.(544-546)gAg>gGg	p.E182G	ABCF2_uc003wjp.3_Missense_Mutation_p.E182G	NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	182	ABC transporter 1.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTACCATCCTCATGAGCCAG	0.602000														95			11		0	0	0.008291	0	0
SLC29A3	55315	broad.mit.edu	37	10	73121791	73121791	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:73121791C>T	uc001jrr.4	+	5	911	c.854C>T	c.(853-855)tCg>tTg	p.S285L	SLC29A3_uc001jrs.4_3'UTR|SLC29A3_uc010qjq.2_Missense_Mutation_p.S139L|SLC29A3_uc001jrt.4_Missense_Mutation_p.S79L	NM_018344	NP_060814	Q9BZD2	S29A3_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 3 (SLC29A3), transcript variant 1, mRNA.	285					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						AGTGCCCCTTCGGTGGCCTCC	0.587000														17			27		0	0	0.005443	0	0
GLRA2	2742	broad.mit.edu	37	X	14748379	14748379	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:14748379G>A	uc010neq.3	+	8	1891	c.1131G>A	c.(1129-1131)atG>atA	p.M377I	GLRA2_uc004cwe.4_Missense_Mutation_p.M377I|GLRA2_uc011mio.2_Missense_Mutation_p.M288I|GLRA2_uc010nep.3_Missense_Mutation_p.M377I|GLRA2_uc011mip.2_Missense_Mutation_p.M355I	NM_002063	NP_002054	P23416	GLRA2_HUMAN	Homo sapiens glycine receptor, alpha 2 (GLRA2), transcript variant 1, mRNA.	377					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	GTTATGGGATGGGTCACTGCC	0.468000														66			126		0	0	0.003610	0	0
RP1	6101	broad.mit.edu	37	8	55534779	55534779	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:55534779C>T	uc003xsd.1	+	2	866	c.718C>T	c.(718-720)Cct>Tct	p.P240S	RP1_uc011ldy.1_Missense_Mutation_p.P240S	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	240					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)			ATACTTGCTTCCTGCTAGATT	0.463000														43			41		0	0	0.006230	0	0
OR10Z1	128368	broad.mit.edu	37	1	158576476	158576476	+	Missense_Mutation	SNP	C	T	T	rs144307016		TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:158576476C>T	uc010pio.2	+	0	248	c.248C>T	c.(247-249)tCt>tTt	p.S83F		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L82L(1)		endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGAATGCTCTCTGGCCTGGCT	0.547000														59			211		0	0	0.003610	0	0
COL4A1	1282	broad.mit.edu	37	13	110823073	110823073	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:110823073T>C	uc001vqw.4	-	41	3685	c.3563A>G	c.(3562-3564)aAg>aGg	p.K1188R		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1188	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CACCTCACCCTTTGAACCTGA	0.567000														44			13		0	0	0.003163	0	0
ESPNL	339768	broad.mit.edu	37	2	239039169	239039169	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:239039169T>C	uc002vxq.4	+	8	1924	c.1814T>C	c.(1813-1815)cTg>cCg	p.L605P	ESPNL_uc010fyw.3_Missense_Mutation_p.L301P	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	605										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		AGCCTGTCCCTGCTGCTGAAG	0.711000														9			3		0	0	0.000248	0	0
SETX	23064	broad.mit.edu	37	9	135158730	135158730	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:135158730C>G	uc004cbk.3	-	18	6650	c.6467G>C	c.(6466-6468)aGc>aCc	p.S2156T	SETX_uc004cbj.3_Missense_Mutation_p.S1775T|SETX_uc010mzt.3_Missense_Mutation_p.S1775T	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	2156					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACCACTTGTGCTCAACGTGCA	0.463000														66			22		0	0	0.002299	0	0
RHO	6010	broad.mit.edu	37	3	129247597	129247597	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:129247597T>C	uc003emt.3	+	0	116	c.21T>C	c.(19-21)ccT>ccC	p.P7P		NM_000539	NP_000530	P08100	OPSD_HUMAN	Homo sapiens rhodopsin (RHO), mRNA.	7					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CAGAAGGCCCTAACTTCTACG	0.607000														34			10		0	0	0.008291	0	0
GPR84	53831	broad.mit.edu	37	12	54756680	54756680	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:54756680C>T	uc021qyp.1	-	0	956	c.956G>A	c.(955-957)cGa>cAa	p.R319Q	GPR84_uc001sfu.3_Missense_Mutation_p.R319Q	NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	Homo sapiens G protein-coupled receptor 84 (GPR84), mRNA.	319						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						AAAACACATTCGAGTCACCTT	0.532000														71			42		0	0	0.006230	0	0
SEC24C	9632	broad.mit.edu	37	10	75520474	75520474	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:75520474C>T	uc001juw.3	+	6	1034	c.854C>T	c.(853-855)tCc>tTc	p.S285F	SEC24C_uc010qkn.2_Non-coding_Transcript|SEC24C_uc009xrj.2_Missense_Mutation_p.S143F|SEC24C_uc001jux.3_Missense_Mutation_p.S285F|SEC24C_uc010qko.2_Missense_Mutation_p.S143F|SEC24C_uc010qkp.2_Intron|SEC24C_uc010qkq.2_Intron	NM_004922	NP_940999	P53992	SC24C_HUMAN	Homo sapiens SEC24 family, member C (S. cerevisiae) (SEC24C), transcript variant 1, mRNA.	285					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|Golgi membrane|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					GTCTCAGGTTCCTTCGGACCA	0.522000														36			65		0	0	0.003610	0	0
LRP6	4040	broad.mit.edu	37	12	12332832	12332832	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:12332832T>C	uc001rah.4	-	6	1599	c.1457A>G	c.(1456-1458)aAc>aGc	p.N486S	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.N486S	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	486	Beta-propeller 2.				Wnt receptor signaling pathway involved in dorsal/ventral axis specification|cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	Wnt-protein binding|coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				AAGAGAAGTGTTAACCAATAC	0.413000														396			100		0	0	0.003610	0	0
PGM3	5238	broad.mit.edu	37	6	83885738	83885738	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:83885738G>A	uc011dyz.2	-	9	1324	c.1155C>T	c.(1153-1155)caC>caT	p.H385H	PGM3_uc003pju.2_Silent_p.H357H|PGM3_uc003pjw.3_Silent_p.H276H|PGM3_uc021zcd.1_Silent_p.H357H	NM_001199917	NP_001186846	O95394	AGM1_HUMAN	Homo sapiens phosphoglucomutase 3 (PGM3), transcript variant 1, mRNA.	357					UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		GAGCCTTGTGGTGCAAATGTT	0.373000														34			16		0	0	0.007413	0	0
MIR320B1	100302117	broad.mit.edu	37	1	117214427	117214427	+	RNA	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:117214427G>A	uc021osk.1	+	0		c.57G>A								Homo sapiens microRNA 320b-1 (MIR320B1), microRNA.																		GGTTGAGAGGGCAAACAaatt	0.333000														9			5		0	0	0.000602	0	0
RPTN	126638	broad.mit.edu	37	1	152130303	152130303	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:152130303C>T	uc001ezs.1	-	1	128	c.63G>A	c.(61-63)ggG>ggA	p.G21G		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	21	EF-hand 1.|S-100-like (By similarity).					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						AGTCCCCATTCCCTTTGGCAT	0.448000														23			51		0	0	0.003610	0	0
SLC4A7	9497	broad.mit.edu	37	3	27490215	27490215	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:27490215T>C	uc011aww.2	-	2	437	c.216A>G	c.(214-216)ggA>ggG	p.G72G	SLC4A7_uc011awx.2_Silent_p.G72G|SLC4A7_uc021wun.1_Silent_p.G72G|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Silent_p.G68G|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Silent_p.G68G|SLC4A7_uc011axb.2_Silent_p.G72G|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Silent_p.G68G|SLC4A7_uc010hfm.2_Silent_p.G68G|SLC4A7_uc003cdv.3_Silent_p.G63G|SLC4A7_uc003cdw.3_Silent_p.G63G	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	63						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						GATGTTTGTGTCCGCGATGCC	0.403000														64			14		0	0	0.001855	0	0
CADPS	8618	broad.mit.edu	37	3	62522183	62522183	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:62522183G>A	uc003dll.2	-	11	2400	c.2040C>T	c.(2038-2040)tcC>tcT	p.S680S	CADPS_uc003dlk.1_Silent_p.S184S|CADPS_uc003dlm.2_Silent_p.S680S|CADPS_uc003dln.2_Silent_p.S680S|CADPS_uc021wzv.1_Silent_p.S680S	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	680					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)		TCTCAAAGAGGGAAGCGTGGT	0.393000														53			34		0	0	0.002836	0	0
TLE1	7088	broad.mit.edu	37	9	84268944	84268944	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:84268944A>T	uc004alz.3	-	4	683	c.242T>A	c.(241-243)aTc>aAc	p.I81N	TLE1_uc004aly.3_Missense_Mutation_p.I81N|TLE1_uc011lsr.2_Missense_Mutation_p.I81N|TLE1_uc004ama.1_Missense_Mutation_p.I81N|TLE1_uc011lss.1_Missense_Mutation_p.I81N	NM_005077	NP_005068	Q04724	TLE1_HUMAN	Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA.	81	Gln-rich.				Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						TCTCTTGGCGATTTCAGTCTA	0.373000														50			10		0	0	0.000978	0	0
RP11-165H20.1	149620	broad.mit.edu	37	1	111825929	111825929	+	RNA	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:111825929C>T	uc009wgb.3	+	4		c.1268C>T								Homo sapiens CHIA-like pseudogene (RP11-165H20.1), non-coding RNA.																		ACATCCATGTCATGACCTATG	0.532000														20			19		0	0	0.001523	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040583	103040583	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:103040583C>T	uc002tbx.3	+	3	867	c.383C>T	c.(382-384)cCc>cTc	p.P128L	IL18RAP_uc010fiz.3_Intron	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	128					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ATTTGTAGACCCAAGATGATT	0.348000														45			30		0	0	0.008361	0	0
MAPT	4137	broad.mit.edu	37	17	44096042	44096042	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:44096042G>A	uc002ijr.4	+	12	2329	c.2007G>A	c.(2005-2007)tcG>tcA	p.S669S	MAPT_uc010dau.3_Silent_p.S687S|MAPT_uc002ijs.4_Silent_p.S352S|MAPT_uc002ijx.4_Silent_p.S323S|MAPT_uc021tyv.1_Silent_p.S321S|MAPT_uc002ijt.4_Silent_p.S294S|MAPT_uc021tyw.1_Silent_p.S292S|MAPT_uc002iju.4_Silent_p.S263S	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	669			S -> L (in fatal respiratory hypoventilation; unusual apparent autosomal recessive inheritance; reduced binding to microtubules as well as increased fibrillization and aggregation).		cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	SH3 domain binding|apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				GAGTCCAGTCGAAGATTGGGT	0.507000														105			54		0	0	0.003610	0	0
NID2	22795	broad.mit.edu	37	14	52481829	52481829	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:52481829C>T	uc001wzo.3	-	14	3427	c.3193G>A	c.(3193-3195)Gac>Aac	p.D1065N	NID2_uc010tqs.2_Missense_Mutation_p.D1017N|NID2_uc010tqt.1_Missense_Mutation_p.D1065N|NID2_uc001wzp.3_Missense_Mutation_p.D1065N	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	1065	Thyroglobulin type-1 2.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CCATCTTTGTCCACACACCAG	0.652000														19			9		0	0	0.006214	0	0
JMJD1C	221037	broad.mit.edu	37	10	64954067	64954067	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:64954067T>C	uc001jmn.3	-	13	6013	c.5713A>G	c.(5713-5715)Acc>Gcc	p.T1905A	JMJD1C_uc001jml.3_Missense_Mutation_p.T1686A|JMJD1C_uc001jmm.3_Missense_Mutation_p.T1617A|JMJD1C_uc010qiq.2_Missense_Mutation_p.T1723A|JMJD1C_uc009xpi.3_Missense_Mutation_p.T1723A|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Missense_Mutation_p.T803A	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1905					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATAATTTGGGTTGGCATTAAA	0.348000														67			11		0	0	0.008291	0	0
NAV1	89796	broad.mit.edu	37	1	201750364	201750364	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:201750364G>A	uc021phi.1	+	4	1937	c.1590G>A	c.(1588-1590)aaG>aaA	p.K530K	NAV1_uc001gwu.3_Silent_p.K530K|NAV1_uc001gwv.1_Silent_p.K38K|NAV1_uc001gww.2_Silent_p.K139K|NAV1_uc001gwx.3_Silent_p.K139K|NAV1_uc001gwy.1_5'Flank	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	530					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GTTCCCTGAAGAAGGGCAAGA	0.562000														37			31		0	0	0.008361	0	0
PAK2	5062	broad.mit.edu	37	3	196533549	196533549	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:196533549A>G	uc003fwy.4	+	5	890	c.568A>G	c.(568-570)Acg>Gcg	p.T190A		NM_002577	NP_002568	Q13177	PAK2_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 2 (PAK2), mRNA.	190					T cell costimulation|T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		ACCGGATCATACGAAATCAGT	0.473000														25			5		0	0	0.000602	0	0
ABCG1	9619	broad.mit.edu	37	21	43710232	43710232	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr21:43710232G>C	uc011aev.2	+	10	1440	c.1366G>C	c.(1366-1368)Ggg>Cgg	p.G456R	ABCG1_uc002zam.3_Missense_Mutation_p.G411R|ABCG1_uc002zan.3_Missense_Mutation_p.G435R|ABCG1_uc002zao.3_Missense_Mutation_p.G430R|ABCG1_uc002zap.3_Missense_Mutation_p.G433R|ABCG1_uc002zaq.3_Missense_Mutation_p.G445R|ABCG1_uc002zar.3_Missense_Mutation_p.G444R|ABCG1_uc010gpb.2_Missense_Mutation_p.R85P	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	445	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	Golgi membrane|endoplasmic reticulum membrane|external side of plasma membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity	p.G445R(1)|p.G435R(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CTTGGGGATCGGGAACGAAGC	0.567000														74			15		0	0	0.004007	0	0
GFPT1	2673	broad.mit.edu	37	2	69565127	69565127	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:69565127A>G	uc002sfi.2	-	14	1568	c.1385T>C	c.(1384-1386)gTg>gCg	p.V462A	GFPT1_uc002sfh.3_Missense_Mutation_p.V444A	NM_001244710	NP_001231639	Q06210	GFPT1_HUMAN	Homo sapiens glutamine--fructose-6-phosphate transaminase 1 (GFPT1), transcript variant 1, mRNA.	462	SIS 1.				UDP-N-acetylglucosamine biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TGTGATCCCCACAGTTAAAGC	0.448000														129			16		0	0	0.004007	0	0
PRKDC	5591	broad.mit.edu	37	8	48802901	48802901	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:48802901A>G	uc003xqi.3	-	32	4042	c.3985T>C	c.(3985-3987)Tac>Cac	p.Y1329H	PRKDC_uc003xqj.3_Missense_Mutation_p.Y1329H	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	1330					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTGTAGTTGTACCTTTCTCCC	0.488000								Non-homologous end-joining						32			5		0	0	0.001168	0	0
CLCN2	1181	broad.mit.edu	37	3	184076014	184076015	+	Missense_Mutation	DNP	GT	AA	AA			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:184076014_184076015GT>AA	uc003foi.3	-	3	560_561	c.436_437AC>TT	c.(436-438)act>TTt	p.T146F	CLCN2_uc003foh.3_5'Flank|CLCN2_uc010hya.2_Missense_Mutation_p.T146F|CLCN2_uc011brl.2_Missense_Mutation_p.T146F|CLCN2_uc011brm.2_Missense_Mutation_p.T102F|CLCN2_uc011brn.1_Missense_Mutation_p.T146F	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	146						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)	GGCTGAGAAAGTGATGAGGACA	0.589000														74			31		0	0	0.004672	0	0
KLHL3	26249	broad.mit.edu	37	5	136969750	136969750	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:136969750T>C	uc010jek.3	-	11	1870	c.1426A>G	c.(1426-1428)Atg>Gtg	p.M476V	KLHL3_uc011cyc.2_Missense_Mutation_p.M211V|KLHL3_uc003lbr.4_Missense_Mutation_p.M394V|KLHL3_uc011cyd.2_Intron|KLHL3_uc010jel.1_Missense_Mutation_p.M211V	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA.	476						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CGGGTGCTCATGTCCGCCACG	0.517000														80			29		0	0	0.006320	0	0
PDE6D	5147	broad.mit.edu	37	2	232645820	232645820	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:232645820G>A	uc002vse.1	-	0	155	c.5C>T	c.(4-6)tCa>tTa	p.S2L	COPS7B_uc010fxy.1_5'Flank|PDE6D_uc010fxx.1_Non-coding_Transcript	NM_002601	NP_002592	O43924	PDE6D_HUMAN	Homo sapiens phosphodiesterase 6D, cGMP-specific, rod, delta (PDE6D), mRNA.	2					regulation of GTP catabolic process|response to stimulus|visual perception		3',5'-cyclic-nucleotide phosphodiesterase activity|GTPase inhibitor activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.142)		Epithelial(121;2.19e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00145)|LUSC - Lung squamous cell carcinoma(224;0.0125)|Lung(119;0.0154)		GTCCTTGGCTGACATGATGCG	0.711000														24			6		0	0	0.001984	0	0
ANO7	50636	broad.mit.edu	37	2	242135225	242135225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:242135225G>A	uc002wax.2	+	3	539	c.436G>A	c.(436-438)Gat>Aat	p.D146N	ANO7_uc002waw.3_Missense_Mutation_p.D145N	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	146						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GACTTTTCTGGATAATCTTCG	0.607000														41			21		0	0	0.002780	0	0
BC073927	0	broad.mit.edu	37	11	71513917	71513918	+	RNA	DNP	CA	TG	TG			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:71513917_71513918CA>TG	uc001oqx.1	-	2		c.682_683TG>CA								Homo sapiens cDNA clone IMAGE:5297769.																		TTGAAGTTCACAGCACACGCAG	0.574000														19			4		0	0	0.004672	0	0
OAS3	4940	broad.mit.edu	37	12	113405854	113405855	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:113405854_113405855GG>AA	uc001tug.3	+	13	3066_3067	c.2979_2980GG>AA	c.(2977-2982)gagggc>gaAAgc	p.G994S		NM_006187	NP_006178	Q9Y6K5	OAS3_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 3, 100kDa (OAS3), mRNA.	994	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|RNA binding|nucleotidyltransferase activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						ACATGGCTGAGGGCTTCCGCAC	0.599000														48			17		0	0	0.004672	0	0
C10orf2	56652	broad.mit.edu	37	10	102748512	102748512	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:102748512T>C	uc001ksf.2	+	0	1220	c.545T>C	c.(544-546)cTt>cCt	p.L182P	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksg.2_Missense_Mutation_p.L182P|C10orf2_uc001ksi.2_Intron|C10orf2_uc021pxb.1_Non-coding_Transcript	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.	182					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)		ATGTTTGGCCTTACCAAGGTT	0.557000														66			37		0	0	0.004289	0	0
DSC2	1824	broad.mit.edu	37	18	28654804	28654804	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:28654804G>A	uc002kwl.4	-	11	2187	c.1733C>T	c.(1732-1734)cCt>cTt	p.P578L	DSC2_uc002kwk.4_Missense_Mutation_p.P578L	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	578	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGTCTTTTTAGGTATGAATGG	0.423000														19			6		0	0	0.001168	0	0
SLC5A12	159963	broad.mit.edu	37	11	26702710	26702710	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:26702710G>A	uc001mra.2	-	11	1680	c.1367C>T	c.(1366-1368)gCc>gTc	p.A456V	SLC5A12_uc001mrb.2_Non-coding_Transcript	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	456					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity	p.G455G(1)|p.A456A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						GTAAATGAAGGCCCCAATGGC	0.468000														7			10		0	0	0.000978	0	0
GRIA1	2890	broad.mit.edu	37	5	153026508	153026508	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:153026508G>A	uc011dcy.2	+	2	298	c.271G>A	c.(271-273)Gga>Aga	p.G91R	GRIA1_uc003lva.4_Missense_Mutation_p.G81R|GRIA1_uc003luy.4_Missense_Mutation_p.G81R|GRIA1_uc003luz.4_5'UTR|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Intron|GRIA1_uc011dcx.2_Missense_Mutation_p.G12R|GRIA1_uc011dcz.2_Missense_Mutation_p.G91R|GRIA1_uc010jia.1_Missense_Mutation_p.G61R	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	81					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	PDZ domain binding|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTTCTCCAAAGGAGTCTATGC	0.453000														40			29		0	0	0.001786	0	0
DDX17	10521	broad.mit.edu	37	22	38882385	38882385	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:38882385T>C	uc003avy.4	-	12	1854	c.1751A>G	c.(1750-1752)gAt>gGt	p.D584G	DDX17_uc003avw.4_Missense_Mutation_p.D36G|DDX17_uc003avx.4_Missense_Mutation_p.D582G	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	503					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	p.D582V(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					GTCACACTCATCCTGATACAT	0.468000														37			7		0	0	0.004482	0	0
SRPR	6734	broad.mit.edu	37	11	126136093	126136093	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:126136093A>G	uc001qdh.3	-	6	1099	c.921T>C	c.(919-921)tcT>tcC	p.S307S	SRPR_uc010sbm.2_Silent_p.S279S|FOXRED1_uc001qdi.3_5'Flank|FOXRED1_uc010sbn.2_5'Flank|FOXRED1_uc010sbq.2_5'Flank|FOXRED1_uc010sbo.2_5'Flank|FOXRED1_uc010sbp.2_5'Flank|FOXRED1_uc010sbr.2_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA.	307				NS -> TL (in Ref. 1; CAA29608).	SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TAGGTTTGGTAGAGTTTTGAG	0.502000														94			23		0	0	0.008361	0	0
SUV420H1	51111	broad.mit.edu	37	11	67925262	67925262	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:67925262G>A	uc001onm.1	-	10	2807	c.2551C>T	c.(2551-2553)Cct>Tct	p.P851S	SUV420H1_uc009yse.1_Missense_Mutation_p.P437S|SUV420H1_uc001onn.1_Missense_Mutation_p.P679S|SUV420H1_uc009ysf.2_Missense_Mutation_p.P611S	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	851					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.P851S(2)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GGAGGAAGAGGAATAAAATCG	0.393000														32			22		0	0	0.001882	0	0
MLXIP	22877	broad.mit.edu	37	12	122625529	122625529	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:122625529A>G	uc001ubq.3	+	15	2645	c.2537A>G	c.(2536-2538)gAg>gGg	p.E846G	MLXIP_uc001ubt.3_Missense_Mutation_p.E453G	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	846	Mediates heterotypic interactions between MLXIP and MLX and is required for cytoplasmic localization.				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)		CCGCTGTTTGAGTCGTTCAAG	0.612000														77			9		0	0	0.006214	0	0
NR2F1	7025	broad.mit.edu	37	5	92929368	92929368	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:92929368C>T	uc003kkj.3	+	2	2779	c.1092C>T	c.(1090-1092)ccC>ccT	p.P364P	NR2F1_uc021ybj.1_Silent_p.P313P|NR2F1_uc021ybk.1_Silent_p.P339P	NM_005654	NP_005645	P10589	COT1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 1 (NR2F1), mRNA.	364					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CCAACCAGCCCAGCCGTTTTG	0.622000														24			24		0	0	0.002299	0	0
USP6NL	9712	broad.mit.edu	37	10	11504960	11504960	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:11504960G>A	uc001iks.1	-	13	2061	c.2018C>T	c.(2017-2019)cCa>cTa	p.P673L	USP6NL_uc001ikt.3_Missense_Mutation_p.P656L	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA.	656						intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GCTAAACTGTGGAGAAGCAAA	0.552000														17			9		0	0	0.006214	0	0
GPS2	2874	broad.mit.edu	37	17	7228139	7228139	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:7228139T>C	uc002gga.1	-	8	1799	c.1792A>G	c.(1792-1794)Acc>Gcc	p.T598A	GPS2_uc002ggb.1_Missense_Mutation_p.T598A|GPS2_uc002ggc.1_Intron	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				TTGGTCATGGTGGAGGGCAAC	0.577000											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		58			32		0	0	0.003271	0	0
UBR2	23304	broad.mit.edu	37	6	42573596	42573596	+	Splice_Site	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:42573596A>G	uc011dur.2	+	6	1099	c.801_splice	c.e6+1	p.D267_splice	UBR2_uc003osf.3_Splice_Site_p.D267_splice	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	267					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GTAGATCGAGATGTAAGTAAT	0.303000														49			4		0	0	0.000602	0	0
EPHB6	2051	broad.mit.edu	37	7	142562173	142562173	+	Silent	SNP	C	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:142562173C>G	uc011kst.2	+	6	1402	c.615C>G	c.(613-615)acC>acG	p.T205T	EPHB6_uc011ksu.2_Silent_p.T205T|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_Intron|EPHB6_uc003wbu.3_5'UTR|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	205						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGCCTCTCACCCAACGCGGCT	0.662000														433			40		0	0	0.006230	0	0
FRY	10129	broad.mit.edu	37	13	32745227	32745227	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:32745227T>C	uc001utx.3	+	17	2467	c.1971T>C	c.(1969-1971)gaT>gaC	p.D657D	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	657					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ACTTCTCAGATTGGAGGGAAG	0.413000														62			44		0	0	0.003610	0	0
ARCN1	372	broad.mit.edu	37	11	118463521	118463521	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:118463521T>C	uc009zag.3	+	7	1407	c.1205T>C	c.(1204-1206)gTg>gCg	p.V402A	ARCN1_uc001ptq.3_Missense_Mutation_p.V361A|ARCN1_uc010ryg.2_Missense_Mutation_p.V273A	NM_001142281	NP_001135753	P48444	COPD_HUMAN	Homo sapiens archain 1 (ARCN1), transcript variant 2, mRNA.	361	MHD.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|clathrin adaptor complex|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GACGTAGGGGTGCTAAAGTGG	0.433000														118			39		0	0	0.002852	0	0
LGALS3BP	3959	broad.mit.edu	37	17	76967853	76967853	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:76967853T>C	uc002jwh.3	-	5	1742	c.1563A>G	c.(1561-1563)aaA>aaG	p.K521K	LGALS3BP_uc002jwi.3_Silent_p.K327K	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 3 binding protein (LGALS3BP), mRNA.	521					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GCATCAGGGCTTTGTTTTCGT	0.602000											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		40			9		0	0	0.004482	0	0
NCOR2	9612	broad.mit.edu	37	12	124817777	124817777	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:124817777A>G	uc021rga.1	-	41	6792	c.6675T>C	c.(6673-6675)ggT>ggC	p.G2225G	NCOR2_uc021rgb.1_Silent_p.G2209G|NCOR2_uc010tbb.2_Silent_p.G2218G|NCOR2_uc010tbc.2_Silent_p.G2208G|NCOR2_uc021rgc.1_Silent_p.G2208G|NCOR2_uc010tax.2_Silent_p.G339G	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	2229					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CAGGTTCAATACCGTCCTCAC	0.627000														30			9		0	0	0.008291	0	0
CAPN13	92291	broad.mit.edu	37	2	30975988	30975988	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:30975988C>T	uc021vfn.1	-	8	1050	c.1018G>A	c.(1018-1020)Gga>Aga	p.G340R	CAPN13_uc021vfm.1_Missense_Mutation_p.G340R|CAPN13_uc002rnp.1_Missense_Mutation_p.G340R	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	340					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AGTGTGTTTCCATGGTCCAGG	0.423000														131			70		0	0	0.003610	0	0
AREG	374	broad.mit.edu	37	4	75314910	75314910	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:75314910T>C	uc021xpc.1	+	2	667	c.457T>C	c.(457-459)Ttc>Ctc	p.F153L		NM_001657	NP_001648	P15514	AREG_HUMAN	Homo sapiens amphiregulin (AREG), mRNA.	153	EGF-like.				G-protein coupled receptor protein signaling pathway|cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			ATTTCAAAATTTCTGCATTCA	0.323000														12			10		0	0	0.001855	0	0
STAG2	10735	broad.mit.edu	37	X	123200074	123200074	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:123200074T>G	uc004eua.3	+	21	2550	c.2146T>G	c.(2146-2148)Ttg>Gtg	p.L716V	STAG2_uc004etz.4_Missense_Mutation_p.L716V|STAG2_uc004eub.3_Missense_Mutation_p.L716V|STAG2_uc004euc.3_Missense_Mutation_p.L716V|STAG2_uc004eud.3_Missense_Mutation_p.L716V|STAG2_uc004eue.3_Missense_Mutation_p.L716V	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	716					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTACAAACTCTTGAAAACTGG	0.274000														72			24		0	0	0.003330	0	0
KSR2	283455	broad.mit.edu	37	12	118198982	118198982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:118198982G>A	uc001two.2	-	3	788	c.733C>T	c.(733-735)Ccg>Tcg	p.P245S		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	274	Pro-rich.				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)					GGCGTGCCCGGCGGGGTCACG	0.701000														167			82		0	0	0.003610	0	0
LENG8	114823	broad.mit.edu	37	19	54969155	54969155	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:54969155A>T	uc002qfv.1	+	11	1909	c.1765A>T	c.(1765-1767)Acc>Tcc	p.T589S	LENG8_uc002qfw.2_Missense_Mutation_p.T626S|LENG8_uc021vbk.1_5'Flank			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	589							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGTGTACGAGACCCATGCCCG	0.662000														31			6		0	0	0.006214	0	0
DUSP21	63904	broad.mit.edu	37	X	44703829	44703829	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:44703829G>A	uc004dgd.3	+	0	581	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K		NM_022076	NP_071359	Q9H596	DUS21_HUMAN	Homo sapiens dual specificity phosphatase 21 (DUSP21), mRNA.	151	Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						CGGCTTTTGGGAACAGCTCAT	0.517000														18			18		0	0	0.007413	0	0
PRELP	5549	broad.mit.edu	37	1	203452498	203452498	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:203452498C>T	uc001gzs.3	+	1	386	c.186C>T	c.(184-186)ctC>ctT	p.L62L	PRELP_uc001gzt.3_Silent_p.L62L	NM_002725	NP_958505	P51888	PRELP_HUMAN	Homo sapiens proline/arginine-rich end leucine-rich repeat protein (PRELP), transcript variant 1, mRNA.	62					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	p.P61P(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CTCCTCCCCTCCCTCCAGGCC	0.642000														36			45		0	0	0.002852	0	0
NOX5	79400	broad.mit.edu	37	15	69325546	69325546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:69325546G>A	uc002ars.2	+	4	825	c.784G>A	c.(784-786)Gac>Aac	p.D262N	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.D216N|NOX5_uc002arp.2_Missense_Mutation_p.D244N|NOX5_uc010bid.2_Missense_Mutation_p.D227N|NOX5_uc010bie.2_Missense_Mutation_p.D62N|NOX5_uc002arr.2_Missense_Mutation_p.D234N|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	262					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	NADP binding|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CGCGCACCGGGACCTCGGCGC	0.682000														20			11		0	0	0.000978	0	0
AFTPH	54812	broad.mit.edu	37	2	64778975	64778975	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:64778975A>G	uc002sdc.3	+	0	399	c.367A>G	c.(367-369)Act>Gct	p.T123A	AFTPH_uc002scz.3_Missense_Mutation_p.T123A|AFTPH_uc002sda.3_Missense_Mutation_p.T123A|AFTPH_uc002sdb.3_Missense_Mutation_p.T123A	NM_203437	NP_982261	Q6ULP2	AFTIN_HUMAN	Homo sapiens aftiphilin (AFTPH), transcript variant 1, mRNA.	123					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AATGTTAGCTACTTCCATTGA	0.383000														41			11		0	0	0.001368	0	0
AHNAK2	113146	broad.mit.edu	37	14	105405320	105405320	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:105405320G>C	uc010axc.1	-	6	16588	c.16468C>G	c.(16468-16470)Ctc>Gtc	p.L5490V	AHNAK2_uc021sen.1_Missense_Mutation_p.L887V|AHNAK2_uc021seo.1_Missense_Mutation_p.L488V|AHNAK2_uc001ypx.2_Missense_Mutation_p.L5390V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5490						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)			GGTACTGAGAGATCTACAAAC	0.448000														15			6		0	0	0.001984	0	0
GOLGA3	2802	broad.mit.edu	37	12	133365873	133365873	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:133365873T>C	uc001ukz.1	-	12	3110	c.2551A>G	c.(2551-2553)Atg>Gtg	p.M851V	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.M851V|GOLGA3_uc001ulb.3_Missense_Mutation_p.M851V	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	851					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCCTCCACCATCACCTGCCAA	0.617000														21			3		0	0	0.004672	0	0
OR13C3	138803	broad.mit.edu	37	9	107298603	107298603	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:107298603G>A	uc004bcb.1	-	0	492	c.492C>T	c.(490-492)atC>atT	p.I164I		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TGCTCAGGATGATGGGGTATC	0.478000														72			49		0	0	0.003610	0	0
UQCRC1	7384	broad.mit.edu	37	3	48646675	48646675	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:48646675A>G	uc003cub.1	-	1	175	c.130T>C	c.(130-132)Ttc>Ctc	p.F44L		NM_003365	NP_003356	P31930	QCR1_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase core protein I (UQCRC1), mRNA.	44					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	TCCGGCACGAACTGGAGCGCC	0.662000														35			9		0	0	0.004482	0	0
RAC1	5879	broad.mit.edu	37	7	6426848	6426848	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:6426848T>A	uc003spx.3	+	1	282	c.41T>A	c.(40-42)gTa>gAa	p.V14E	RAC1_uc003spw.3_Missense_Mutation_p.V14E|RAC1_uc021zzg.1_5'UTR	NM_006908	NP_008839	P63000	RAC1_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1) (RAC1), transcript variant Rac1, mRNA.	14					T cell costimulation|actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of Rho protein signal transduction|positive regulation of lamellipodium assembly|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	TTTAGAGCTGTAGGTAAAACT	0.313000														115			20		0	0	0.008871	0	0
LRP10	26020	broad.mit.edu	37	14	23345368	23345368	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:23345368T>C	uc001whd.3	+	4	1764	c.1211T>C	c.(1210-1212)tTc>tCc	p.F404S	LRP10_uc001whe.3_Missense_Mutation_p.F280S	NM_014045	NP_054764	Q7Z4F1	LRP10_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 10 (LRP10), mRNA.	404	LDL-receptor class A 4.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		CCTGGCAATTTCCGATGCCGG	0.592000														68			12		0	0	0.000978	0	0
F11R	50848	broad.mit.edu	37	1	160969507	160969507	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:160969507G>A	uc009wtt.3	-	6	995	c.725C>T	c.(724-726)gCc>gTc	p.A242V	F11R_uc010pjv.2_Missense_Mutation_p.A193V|F11R_uc010pjw.2_Missense_Mutation_p.A246V|F11R_uc001fxf.4_Missense_Mutation_p.A242V	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	Homo sapiens F11 receptor (F11R), mRNA.	242					blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			TACAAGGACGGCTGCCACGAT	0.532000														28			17		0	0	0.001523	0	0
SAMD9	54809	broad.mit.edu	37	7	92733845	92733845	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:92733845C>T	uc003umf.3	-	2	1836	c.1566G>A	c.(1564-1566)agG>agA	p.R522R	SAMD9_uc003umg.3_Silent_p.R522R|SAMD9_uc022ahg.1_Silent_p.R522R	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	522						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AAATCAGTTTCCTGACATCAG	0.418000														73			140		0	0	0.003610	0	0
MCPH1	79648	broad.mit.edu	37	8	6479203	6479203	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:6479203T>C	uc003wqi.3	+	12	2519	c.2443T>C	c.(2443-2445)Tgg>Cgg	p.W815R		NM_024596	NP_078872	Q8NEM0	MCPH1_HUMAN	Homo sapiens microcephalin 1 (MCPH1), transcript variant 1, mRNA.	815	BRCT 3.					microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GTCTGAGAAATGGGTCTTAGG	0.597000														29			23		0	0	0.005443	0	0
LIN7A	8825	broad.mit.edu	37	12	81205378	81205378	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:81205378G>A	uc001szj.1	-	4	761	c.568C>T	c.(568-570)Cca>Tca	p.P190S	LIN7A_uc001szk.1_Non-coding_Transcript	NM_004664	NP_004655	O14910	LIN7A_HUMAN	Homo sapiens lin-7 homolog A (C. elegans) (LIN7A), mRNA.	190	PDZ.				exocytosis|protein complex assembly|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	L27 domain binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						AGAACTTTTGGGGTGTATCGC	0.498000														44			20		0	0	0.008871	0	0
SLC6A6	6533	broad.mit.edu	37	3	14513721	14513721	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:14513721C>T	uc010heg.3	+	9	1404	c.1105C>T	c.(1105-1107)Ctg>Ttg	p.L369L	SLC6A6_uc003byq.3_Silent_p.L369L|SLC6A6_uc003byr.3_Non-coding_Transcript	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	369					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						AGGTCCTGGCCTGGCCTTCAT	0.512000														32			24		0	0	0.006320	0	0
GABRR3	200959	broad.mit.edu	37	3	97726706	97726706	+	RNA	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:97726706C>T	uc021xbo.1	-	6		c.773G>A			GABRR3_uc021xbp.1_Intron	NM_001105580		A8MPY1	GBRR3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 3 (GABRR3), mRNA.						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			large_intestine(2)|lung(1)	3						GGACTTGTTTCCGTGTTTCCA	0.373000														15			7		0	0	0.001984	0	0
C10orf71	118461	broad.mit.edu	37	10	50531444	50531444	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:50531444C>T	uc021pqb.1	+	0	854	c.854C>T	c.(853-855)cCa>cTa	p.P285L	C10orf71_uc021pqa.1_Missense_Mutation_p.P284L|C10orf71_uc021pqc.1_Missense_Mutation_p.P285L	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	285								p.P285Q(2)		endometrium(1)	1						GCCCACCAACCAAAGCTGCTG	0.532000														8			12		0	0	0.000978	0	0
KIF2C	11004	broad.mit.edu	37	1	45232824	45232824	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:45232824A>G	uc001cmg.4	+	20	2266	c.2151A>G	c.(2149-2151)caA>caG	p.Q717Q	KIF2C_uc010olb.2_Silent_p.Q676Q|KIF2C_uc010olc.2_Silent_p.Q604Q|KIF2C_uc001cmh.4_Silent_p.Q663Q	NM_006845	NP_006836	Q99661	KIF2C_HUMAN	Homo sapiens kinesin family member 2C (KIF2C), mRNA.	717					blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					CTAGCAGACAAATAAGCAGCA	0.522000														40			16		0	0	0.004990	0	0
FNDC3B	64778	broad.mit.edu	37	3	172080540	172080540	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:172080540T>C	uc003fhy.3	+	22	3085	c.2913T>C	c.(2911-2913)ccT>ccC	p.P971P	FNDC3B_uc003fhz.4_Silent_p.P971P	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	971	Fibronectin type-III 8.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CTGCTGGTCCTCAGAGCCTGA	0.473000														68			12		0	0	0.001855	0	0
FUT5	2527	broad.mit.edu	37	19	5867711	5867712	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:5867711_5867712GG>AT	uc002mdo.4	-	1	196_197	c.25_26CC>AT	c.(25-27)cca>ATa	p.P9I	FUT5_uc010duo.3_Missense_Mutation_p.P9I|FUT5_uc021uno.1_Missense_Mutation_p.P9I	NM_002034	NP_002025	Q11128	FUT5_HUMAN	Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.	9					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						CAGCCACTGTGGCTTGGCTGGG	0.604000														28			9		0	0	0.004672	0	0
STIL	6491	broad.mit.edu	37	1	47717465	47717465	+	Silent	SNP	C	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:47717465C>A	uc001crd.1	-	16	3365	c.3210G>T	c.(3208-3210)ctG>ctT	p.L1070L	TAL1_uc001crb.1_Intron|STIL_uc010omn.1_Silent_p.L1023L|STIL_uc010omo.1_Silent_p.L1052L|STIL_uc001crc.1_Silent_p.L1069L|STIL_uc001cre.1_Silent_p.L1069L	NM_001048166	NP_001041631	Q15468	STIL_HUMAN	Homo sapiens SCL/TAL1 interrupting locus (STIL), transcript variant 1, mRNA.	1069					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTAAATATTTCAGAGCTATAG	0.403000														49			49		1.83081e-24	3.22806e-24	0.003610	1	0
MUC16	94025	broad.mit.edu	37	19	9046787	9046787	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:9046787C>G	uc002mkp.3	-	4	35048	c.34844G>C	c.(34843-34845)aGg>aCg	p.R11615T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11617	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						AACACCTGACCTCGTGTCTAC	0.507000														50			23		0	0	0.002299	0	0
SGIP1	84251	broad.mit.edu	37	1	67208756	67208756	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:67208756G>A	uc001dcr.3	+	25	2682	c.2465_splice	c.e25-1	p.G822_splice	SGIP1_uc010opd.2_Splice_Site_p.G422_splice|SGIP1_uc001dcs.3_Splice_Site_p.G422_splice|SGIP1_uc001dct.3_Splice_Site_p.G424_splice|SGIP1_uc009wat.3_Splice_Site_p.G616_splice|SGIP1_uc001dcu.3_Splice_Site_p.G327_splice	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	822					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	SH3 domain binding|microtubule binding|phospholipid binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TGTTTTGCAGGAAAATACTTG	0.343000														24			43		0	0	0.003610	0	0
PTPN12	5782	broad.mit.edu	37	7	77261684	77261684	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:77261684T>C	uc003ugh.2	+	13	2107	c.2016T>C	c.(2014-2016)gaT>gaC	p.D672D	PTPN12_uc011kgp.1_Silent_p.D553D|PTPN12_uc011kgq.1_Silent_p.D542D|PTPN12_uc010lds.2_Silent_p.D404D	NM_002835	NP_002826	Q05209	PTN12_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 12 (PTPN12), transcript variant 1, mRNA.	672						soluble fraction	SH3 domain binding|non-membrane spanning protein tyrosine phosphatase activity			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TTAGTGAAGATTCACCTCCTC	0.313000														238			22		0	0	0.002299	0	0
LYVE1	10894	broad.mit.edu	37	11	10580718	10580718	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:10580718G>A	uc001miv.2	-	5	1195	c.909C>T	c.(907-909)aaC>aaT	p.N303N	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|LYVE1_uc010rca.1_Silent_p.N199N	NM_006691	NP_006682	Q9Y5Y7	LYVE1_HUMAN	Homo sapiens lymphatic vessel endothelial hyaluronan receptor 1 (LYVE1), mRNA.	303					anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		ACTCTTCTGGGTTTTTATCAG	0.433000														63			46		0	0	0.003610	0	0
NUAK2	81788	broad.mit.edu	37	1	205273082	205273083	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:205273082_205273083GG>AA	uc001hce.3	-	6	1509_1510	c.1382_1383CC>TT	c.(1381-1383)tcc>tTT	p.S461F		NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	461					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)			GCTCGGGAGAGGAGTAGTAGCC	0.639000														23			4		0	0	0.004672	0	0
EPPK1	83481	broad.mit.edu	37	8	144947161	144947161	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:144947161G>A	uc003zaa.1	-	0	274	c.261C>T	c.(259-261)ctC>ctT	p.L87L		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	87						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCCCGGGCGAGGTCCACCA	0.706000														13			10		0	0	0.008291	0	0
LRFN3	79414	broad.mit.edu	37	19	36430468	36430468	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:36430468G>A	uc002oco.3	+	1	593	c.141G>A	c.(139-141)ggG>ggA	p.G47G		NM_024509	NP_078785	Q9BTN0	LRFN3_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 3 (LRFN3), mRNA.	47	LRRNT.				cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGTGCCCAGGGGCAGGCCTCC	0.721000														9			5		0	0	0.000602	0	0
PARP6	56965	broad.mit.edu	37	15	72545814	72545814	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:72545814T>C	uc002auc.3	-	14	1682	c.1223A>G	c.(1222-1224)gAc>gGc	p.D408G	PARP6_uc002aua.3_Missense_Mutation_p.D253G|PARP6_uc002aub.3_Non-coding_Transcript|PARP6_uc002aud.4_Non-coding_Transcript|PARP6_uc002auf.1_Missense_Mutation_p.D408G	NM_020214	NP_064599	Q2NL67	PARP6_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 6 (PARP6), mRNA.	408	PARP catalytic.						NAD+ ADP-ribosyltransferase activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	18						ATCCAACTTGTCCATCTGTTT	0.488000														40			11		0	0	0.000978	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23069647	23069647	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:23069647C>T	uc003xda.3	-	1	491	c.385G>A	c.(385-387)Gga>Aga	p.G129R		NM_003844	NP_003835	O00220	TR10A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10a (TNFRSF10A), mRNA.	129					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		TRAIL binding|caspase activator activity|death receptor activity|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		CACAACTCTCCCAAAGGGCTA	0.423000														19			16		0	0	0.004990	0	0
PHF12	57649	broad.mit.edu	37	17	27240251	27240251	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:27240251A>G	uc002hdg.1	-	8	1868	c.1338T>C	c.(1336-1338)caT>caC	p.H446H	PHF12_uc010wbb.1_Silent_p.H428H|PHF12_uc002hdi.1_Silent_p.H442H|PHF12_uc002hdj.1_Silent_p.H446H|PHF12_uc010crw.1_Silent_p.H149H|PHF12_uc002hdh.1_Silent_p.H229H	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	446	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TAGCAGATAAATGTTTCAATA	0.522000														123			22		0	0	0.002299	0	0
MXRA5	25878	broad.mit.edu	37	X	3241577	3241577	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:3241577G>A	uc004crg.4	-	4	2306	c.2149C>T	c.(2149-2151)Cca>Tca	p.P717S		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	717						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGGTCCTTTGGATGCAGAAGT	0.483000														13			29		0	0	0.005443	0	0
TBCE	6905	broad.mit.edu	37	1	235543432	235543432	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:235543432T>A	uc010pxr.1	+	1	191	c.68T>A	c.(67-69)gTa>gAa	p.V23E	TBCE_uc010pxq.1_Non-coding_Transcript|TBCE_uc001hwz.1_Missense_Mutation_p.V23E|TBCE_uc001hxa.1_Missense_Mutation_p.V23E|TBCE_uc001hxb.1_5'UTR	NM_003193	NP_003184	Q15813	TBCE_HUMAN	Homo sapiens tubulin folding cofactor E (TBCE), transcript variant 2, mRNA.	23					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			CATGCAACAGTACGTTTTGCT	0.423000														107			5		0	0	0.001168	0	0
MAP3K12	7786	broad.mit.edu	37	12	53876438	53876438	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:53876438C>T	uc001sdn.2	-	10	2420	c.2149G>A	c.(2149-2151)Ggg>Agg	p.G717R	MAP3K12_uc001sdm.2_Missense_Mutation_p.G684R	NM_001193511	NP_001180440	Q12852	M3K12_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 12 (MAP3K12), transcript variant 1, mRNA.	684					JNK cascade|histone phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CCTGAGGTCCCTTCCCTTCCA	0.637000														79			36		0	0	0.002522	0	0
GJB4	127534	broad.mit.edu	37	1	35227570	35227570	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:35227570C>T	uc001bxw.4	+	0	715	c.715C>T	c.(715-717)Ctc>Ttc	p.L239F	GJB4_uc001bxv.1_Missense_Mutation_p.L239F	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.	239					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ACCATATGTCCTCTCCCAGGG	0.622000														29			15		0	0	0.008871	0	0
ASTN1	460	broad.mit.edu	37	1	177001820	177001820	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:177001820C>T	uc001glc.3	-	2	849	c.637G>A	c.(637-639)Gga>Aga	p.G213R	ASTN1_uc001glb.1_Missense_Mutation_p.G213R|ASTN1_uc001gld.1_Missense_Mutation_p.G213R|ASTN1_uc009wwx.1_Missense_Mutation_p.G213R|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	213					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTCTCCCGTCCGTGCCCGCCG	0.622000														77			15		0	0	0.004990	0	0
DOT1L	84444	broad.mit.edu	37	19	2226269	2226269	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:2226269A>G	uc002lvc.1	+	12	2398	c.1631A>G	c.(1630-1632)gAc>gGc	p.D544G	DOT1L_uc002lvb.4_Missense_Mutation_p.D1250G	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	1250						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCATCTCCGACATCGGCCTG	0.677000														22			3		0	0	0.004672	0	0
ARID2	196528	broad.mit.edu	37	12	46246415	46246415	+	Silent	SNP	T	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:46246415T>G	uc001ros.1	+	14	4509	c.4509T>G	c.(4507-4509)gtT>gtG	p.V1503V	ARID2_uc001ror.3_Silent_p.V1503V|ARID2_uc009zkg.1_Silent_p.V959V|ARID2_uc009zkh.1_Silent_p.V1130V|ARID2_uc001rou.1_Silent_p.V837V	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1503					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CATCTGACGTTCGGTCTACAA	0.443000			"""N, S, F"""		hepatocellular carcinoma									56			43		0	0	0.003214	0	0
SUMO2	6613	broad.mit.edu	37	17	73164463	73164463	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:73164463A>G	uc002jne.3	-	3	428	c.259T>C	c.(259-261)Ttc>Ctc	p.F87L	SUMO2_uc002jnf.3_Missense_Mutation_p.F63L	NM_006937	NP_008868	P61956	SUMO2_HUMAN	Homo sapiens SMT3 suppressor of mif two 3 homolog 2 (S. cerevisiae) (SUMO2), transcript variant 1, mRNA.	87	Ubiquitin-like.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation	nucleus	ubiquitin protein ligase binding			NS(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					TGCTGTTGGAACACATCAATT	0.348000														8			10		0	0	0.001855	0	0
DBX1	120237	broad.mit.edu	37	11	20178610	20178610	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:20178610C>T	uc021qez.1	-	2	645	c.642G>A	c.(640-642)gcG>gcA	p.A214A	DBX1_uc021qey.1_Silent_p.A215A	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	Homo sapiens developing brain homeobox 1 (DBX1), mRNA.	215					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						CCAGCTTGGCCGCCAGCTTCT	0.642000														29			14		0	0	0.001855	0	0
C3orf19	51244	broad.mit.edu	37	3	14696016	14696016	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:14696016A>G	uc003byw.3	+	1	217	c.126A>G	c.(124-126)ggA>ggG	p.G42G	C3orf19_uc010hei.1_Silent_p.G42G	NM_016474	NP_057558	Q6PII3	CC019_HUMAN	Homo sapiens chromosome 3 open reading frame 19 (C3orf19), mRNA.	42										endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	14						GAGTTTTTGGAAAACCAAAAA	0.308000														30			5		0	0	0.000602	0	0
SEMA4B	10509	broad.mit.edu	37	15	90771687	90771687	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:90771687G>A	uc002boy.3	+	14	2609	c.2326G>A	c.(2326-2328)Ggg>Agg	p.G776R	SEMA4B_uc002boz.3_Missense_Mutation_p.G776R|SEMA4B_uc010uqd.2_Missense_Mutation_p.G614R|SEMA4B_uc002bpa.3_Missense_Mutation_p.G614R	NM_020210	NP_945119			Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B (SEMA4B), transcript variant 1, mRNA.											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CAACGGCCTAGGGCCCCCTAG	0.647000														14			3		0	0	0.000248	0	0
PLCG2	5336	broad.mit.edu	37	16	81888101	81888101	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:81888101C>T	uc002fgt.3	+	2	424	c.246C>T	c.(244-246)ttC>ttT	p.F82F	PLCG2_uc010chg.1_Silent_p.F82F	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	82	PH.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCAAAGATTTCGAGCGAGCAA	0.468000														76			16		0	0	0.004007	0	0
CENPF	1063	broad.mit.edu	37	1	214830532	214830532	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:214830532T>C	uc001hkm.3	+	17	8916	c.8742T>C	c.(8740-8742)ccT>ccC	p.P2914P		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	3010	Sufficient for centromere localization.|Sufficient for self-association.				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTCCAATCCCTTCTGTTACTG	0.468000														204			24		0	0	0.003954	0	0
ZNF449	203523	broad.mit.edu	37	X	134494127	134494127	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:134494127T>A	uc004eys.3	+	4	848	c.683T>A	c.(682-684)aTc>aAc	p.I228N	ZNF449_uc004eyt.3_Missense_Mutation_p.I108N|ZNF449_uc004eyu.3_Missense_Mutation_p.I34N	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	Homo sapiens zinc finger protein 449 (ZNF449), mRNA.	228					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)					GGTTTTGAGATCGGGATAGAA	0.363000														29			8		0	0	0.003080	0	0
LCTL	197021	broad.mit.edu	37	15	66857161	66857161	+	Silent	SNP	C	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:66857161C>A	uc002aqc.3	-	1	267	c.135G>T	c.(133-135)gtG>gtT	p.V45V	LCTL_uc002aqd.4_Intron|LCTL_uc010bhw.3_5'UTR	NM_207338	NP_997221	Q6UWM7	LCTL_HUMAN	Homo sapiens lactase-like (LCTL), mRNA.	45					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.G44G(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGAACTGCCCACGCCCCAGG	0.657000														87			5		0.00116845	0.00201055	0.001168	1	0
OR1J4	26219	broad.mit.edu	37	9	125282298	125282298	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:125282298G>A	uc011lyw.2	+	0	879	c.879G>A	c.(877-879)agG>agA	p.R293R		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						ATAGCCTAAGGAACAGGGACA	0.458000														20			23		0	0	0.007291	0	0
HTATSF1	27336	broad.mit.edu	37	X	135586611	135586611	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:135586611A>G	uc004ezw.3	+	6	1245	c.823A>G	c.(823-825)Atg>Gtg	p.M275V	HTATSF1_uc004ezx.3_Missense_Mutation_p.M275V	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	275	RRM 2.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GTTTCATCCTATGGATTTTGA	0.493000														20			35		0	0	0.004289	0	0
MUC16	94025	broad.mit.edu	37	19	9086883	9086883	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:9086883G>A	uc002mkp.3	-	0	5136	c.4932C>T	c.(4930-4932)acC>acT	p.T1644T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1644	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						CTATGCCCAGGGTGACTCCAC	0.512000														61			39		0	0	0.007835	0	0
ZSCAN18	65982	broad.mit.edu	37	19	58596343	58596344	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:58596343_58596344GG>AA	uc010yht.1	-	6	1439_1440	c.1409_1410CC>TT	c.(1408-1410)gcc>gTT	p.A470V	ZSCAN18_uc002qrj.3_Missense_Mutation_p.A413V|ZSCAN18_uc010yhs.1_Missense_Mutation_p.A278V|ZSCAN18_uc002qrh.2_Missense_Mutation_p.A414V|ZSCAN18_uc002qri.2_Missense_Mutation_p.A414V|ZSCAN18_uc002qrk.1_3'UTR|ZSCAN18_uc002qrl.2_3'UTR	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	414					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y469Y(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ACTCGCCGCAGGCATAGGGCTT	0.723000														9			5		0	0	0.004672	0	0
FMR1	2332	broad.mit.edu	37	X	147022103	147022103	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:147022103A>G	uc010nst.3	+	12	1426	c.1197A>G	c.(1195-1197)gtA>gtG	p.V399V	FMR1_uc004fcj.3_Silent_p.V376V|FMR1_uc022cgc.1_Silent_p.V399V|FMR1_uc022cgd.1_Non-coding_Transcript|FMR1_uc004fck.4_Silent_p.V378V|FMR1_uc022cge.1_Silent_p.V378V|FMR1_uc022cgf.1_Silent_p.V378V|FMR1_uc022cgg.1_Non-coding_Transcript|FMR1_uc004fcl.4_Silent_p.V239V|FMR1_uc011mxa.2_Silent_p.V46V	NM_002024	NP_002015	Q06787	FMR1_HUMAN	Homo sapiens fragile X mental retardation 1 (FMR1), transcript variant ISO1, mRNA.	399					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGTATGGTACCATTTGTTT	0.343000									Fragile X syndrome					72			34		0	0	0.004878	0	0
SCARF1	8578	broad.mit.edu	37	17	1538608	1538608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:1538608G>A	uc002fsz.1	-	10	1987	c.1937C>T	c.(1936-1938)tCc>tTc	p.S646F	SCARF1_uc002fsy.1_3'UTR|SCARF1_uc002fta.1_Non-coding_Transcript|SCARF1_uc010cjv.1_Missense_Mutation_p.S560F	NM_003693	NP_003684	Q14162	SREC_HUMAN	Homo sapiens scavenger receptor class F, member 1 (SCARF1), transcript variant 1, mRNA.	646	Gly-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGCCGGAAAGGACTCGGGGGC	0.697000														21			6		0	0	0.001984	0	0
SIGLEC12	89858	broad.mit.edu	37	19	52001489	52001489	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:52001489G>A	uc002pwx.1	-	4	1244	c.1188C>T	c.(1186-1188)tcC>tcT	p.S396S	SIGLEC12_uc002pww.1_Silent_p.S278S|SIGLEC12_uc010eoy.1_Silent_p.S123S	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	396	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CAAGGTGCAGGGACTGGCCCT	0.602000														16			17		0	0	0.001523	0	0
RAD51B	5890	broad.mit.edu	37	14	68352645	68352645	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:68352645T>A	uc001xkf.2	+	5	589	c.512T>A	c.(511-513)cTt>cAt	p.L171H	RAD51B_uc010aqq.3_Missense_Mutation_p.L171H|RAD51B_uc001xkd.3_Missense_Mutation_p.L171H|RAD51B_uc010aqr.3_Missense_Mutation_p.L52H|RAD51B_uc001xke.3_Missense_Mutation_p.L171H|RAD51B_uc001xkg.2_Missense_Mutation_p.L171H	NM_133509	NP_598193	O15315	RA51B_HUMAN	Homo sapiens RAD51 homolog B (S. cerevisiae) (RAD51B), transcript variant 3, mRNA.	171					DNA repair|blood coagulation|reciprocal meiotic recombination	nucleoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity		HMGA2/RAD51B(11)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11						GAAAAGTTACTTTTGACAAGT	0.348000								Direct reversal of damage						125			27		0	0	0.005443	0	0
DCAF5	8816	broad.mit.edu	37	14	69521377	69521377	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:69521377T>C	uc001xkp.3	-	8	2245	c.2026A>G	c.(2026-2028)Aat>Gat	p.N676D	DCAF5_uc001xkq.3_Missense_Mutation_p.N675D	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.	676						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						TCTTTGTTATTTGAGTAGGAG	0.478000														99			21		0	0	0.002299	0	0
WDR12	55759	broad.mit.edu	37	2	203765755	203765755	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:203765755A>G	uc002uzl.3	-	2	974	c.224T>C	c.(223-225)aTc>aCc	p.I75T		NM_018256	NP_060726	Q9GZL7	WDR12_HUMAN	Homo sapiens WD repeat domain 12 (WDR12), mRNA.	75			I -> V (in dbSNP:rs35212307).		cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	PeBoW complex|nucleoplasm|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TACTGATGAGATGTTCTCCAT	0.373000														379			15		0	0	0.004007	0	0
SFXN4	119559	broad.mit.edu	37	10	120925159	120925159	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:120925159T>C	uc001leb.3	-	0	46	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SFXN4_uc001lea.3_Non-coding_Transcript	NM_213649	NP_998814	Q6P4A7	SFXN4_HUMAN	Homo sapiens sideroflexin 4 (SFXN4), mRNA.	1					iron ion homeostasis	integral to membrane|mitochondrial membrane	cation transmembrane transporter activity			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	11		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0261)		TCCAGGGACATTTTGCGCTGG	0.716000														35			7		0	0	0.003080	0	0
RIF1	55183	broad.mit.edu	37	2	152299813	152299813	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:152299813A>G	uc002txm.3	+	16	1936	c.1775A>G	c.(1774-1776)aAt>aGt	p.N592S	RIF1_uc010fnv.2_Missense_Mutation_p.N556S|RIF1_uc002txn.3_Missense_Mutation_p.N592S|RIF1_uc002txl.3_Missense_Mutation_p.N592S|RIF1_uc002txo.3_Missense_Mutation_p.N592S|RIF1_uc010zby.1_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	592					cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATTTTCAACAATTTCTTGGAA	0.294000														50			4		0	0	0.000248	0	0
PLEC	5339	broad.mit.edu	37	8	145008819	145008819	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:145008819A>G	uc003zaf.1	-	9	1606	c.1436T>C	c.(1435-1437)aTc>aCc	p.I479T	PLEC_uc003zab.1_Missense_Mutation_p.I342T|PLEC_uc003zac.1_Missense_Mutation_p.I346T|PLEC_uc003zad.2_Missense_Mutation_p.I342T|PLEC_uc003zae.1_Missense_Mutation_p.I310T|PLEC_uc003zag.1_Missense_Mutation_p.I320T|PLEC_uc003zah.2_Missense_Mutation_p.I328T|PLEC_uc003zaj.2_Missense_Mutation_p.I369T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	479	Globular 1.				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						GGATTGGTAGATGCCCTTGGA	0.617000														124			14		0	0	0.006122	0	0
FAM83H	286077	broad.mit.edu	37	8	144810185	144810185	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:144810185A>G	uc003yzk.3	-	4	1515	c.1446T>C	c.(1444-1446)ggT>ggC	p.G482G		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	482					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGTCCGCGAAACCCGCGCGGC	0.726000														42			6		0	0	0.001168	0	0
EEFSEC	60678	broad.mit.edu	37	3	127965712	127965712	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:127965712T>C	uc003eki.3	+	1	388	c.350T>C	c.(349-351)aTc>aCc	p.I117T		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	117						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						ATGCTGGTCATCGATGTGACC	0.522000														184			29		0	0	0.007291	0	0
ESYT1	23344	broad.mit.edu	37	12	56524849	56524849	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:56524849T>C	uc001sjr.3	+	3	711	c.593T>C	c.(592-594)gTt>gCt	p.V198A	ESYT1_uc001sjq.3_Missense_Mutation_p.V198A	NM_001184796	NP_001171725	Q9BSJ8	ESYT1_HUMAN	Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA.	198						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GGAGTCAAGGTTCACCCAGGT	0.512000														36			5		0	0	0.001168	0	0
TPM3	7170	broad.mit.edu	37	1	154164465	154164465	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:154164465C>T	uc001fec.1	-	0	145	c.30G>A	c.(28-30)caG>caA	p.Q10Q		NM_152263	NP_689476	P06753	TPM3_HUMAN	Homo sapiens tropomyosin 3 (TPM3), transcript variant 1, mRNA.	9					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					ACTTCAGCATCTGCATCTTTT	0.512000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""									17			65		0	0	0.003610	0	0
RASA2	5922	broad.mit.edu	37	3	141272713	141272713	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:141272713A>T	uc010huq.1	+	5	542	c.542A>T	c.(541-543)cAt>cTt	p.H181L	RASA2_uc003etz.1_Missense_Mutation_p.H181L|RASA2_uc003eua.1_Missense_Mutation_p.H181L|RASA2_uc011bnc.1_5'UTR	NM_006506	NP_006497	Q15283	RASA2_HUMAN	Homo sapiens RAS p21 protein activator 2 (RASA2), mRNA.	181	C2 2.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	Ras GTPase activator activity|metal ion binding	p.C180C(1)		NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						AAGGCATGCCATGGGTTGCCT	0.328000														140			23		0	0	0.001786	0	0
ABI3BP	25890	broad.mit.edu	37	3	100469405	100469405	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:100469405A>G	uc003dun.3	-	34	3247	c.3162T>C	c.(3160-3162)ggT>ggC	p.G1054G	ABI3BP_uc003duj.3_Silent_p.G634G|ABI3BP_uc003duk.3_Silent_p.G763G|ABI3BP_uc003dul.3_Silent_p.G884G|ABI3BP_uc011bhd.2_Silent_p.G1008G|ABI3BP_uc003dum.3_Silent_p.G465G	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	1054						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						GGGTGTGACCACCTATTTCTC	0.383000														138			31		0	0	0.003755	0	0
TG	7038	broad.mit.edu	37	8	133900485	133900485	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:133900485A>G	uc003ytw.3	+	9	2474	c.2433A>G	c.(2431-2433)gaA>gaG	p.E811E		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	811	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.R810T(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCTACAGAGAAGCAGCTTCCG	0.512000														67			14		0	0	0.002450	0	0
SCN11A	11280	broad.mit.edu	37	3	38945409	38945410	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:38945409_38945410CC>TT	uc021wvy.1	-	11	1987_1988	c.1788_1789GG>AA	c.(1786-1791)atggag>atAAag	p.596_597ME>IK		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	596					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)	TTGTGATGCTCCATGGCCAAGA	0.396000														54			23		0	0	0.004672	0	0
ATG2A	23130	broad.mit.edu	37	11	64673911	64673911	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:64673911T>C	uc001obx.3	-	20	3193	c.3078A>G	c.(3076-3078)gaA>gaG	p.E1026E		NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1026							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CGGTCACCCCTTCCTCCGATG	0.682000														35			7		0	0	0.003080	0	0
TERT	7015	broad.mit.edu	37	5	1264604	1264604	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:1264604C>T	uc003jcb.1	-	10	2816	c.2758G>A	c.(2758-2760)Gtt>Att	p.V920I	TERT_uc003jbz.1_Missense_Mutation_p.V116I|TERT_uc003jcc.1_Intron|TERT_uc003jca.1_Missense_Mutation_p.V908I|TERT_uc003jcd.1_Intron|TERT_uc003jce.1_Intron|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Missense_Mutation_p.V72I	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	920	Required for oligomerization.|Reverse transcriptase.				DNA strand elongation|anti-apoptosis|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	PML body|cytoplasm|nucleolus|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	p.G920S(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGCATCTGAACAAAAGCCGTG	0.632000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis					46			11		0	0	0.000978	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31488683	31488683	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:31488683C>T	uc002ecd.2	+	10	1206	c.1172C>T	c.(1171-1173)cCg>cTg	p.P391L	TGFB1I1_uc021tgx.1_Missense_Mutation_p.P374L|TGFB1I1_uc002ece.2_Missense_Mutation_p.P374L	NM_001042454	NP_057011	O43294	TGFI1_HUMAN	Homo sapiens transforming growth factor beta 1 induced transcript 1 (TGFB1I1), transcript variant 1, mRNA.	391	LIM zinc-binding 3.				Wnt receptor signaling pathway|androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	I-SMAD binding|Roundabout binding|androgen receptor binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						GAGGGCCGCCCGTTGTGCGAG	0.682000														15			7		0	0	0.004482	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187692816	187692816	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:187692816C>T	uc002upu.1	-	8	1837	c.1797G>A	c.(1795-1797)ggG>ggA	p.G599G		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	599					apoptosis		zinc ion binding	p.M598I(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			GTGTAATTTCCCCCATACAGT	0.343000														52			29		0	0	0.007291	0	0
C17orf56	146705	broad.mit.edu	37	17	79202796	79202796	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:79202796A>G	uc002jzu.2	-	11	1568	c.1510T>C	c.(1510-1512)Tcc>Ccc	p.S504P	C17orf56_uc002jzr.2_Missense_Mutation_p.S174P|C17orf56_uc002jzs.2_Missense_Mutation_p.S420P|C17orf56_uc002jzt.2_Missense_Mutation_p.S420P|C17orf56_uc002jzv.2_Missense_Mutation_p.S352P|AL832593_uc002jzw.1_Non-coding_Transcript	NM_144679	NP_653280	Q96N21	CQ056_HUMAN	Homo sapiens chromosome 17 open reading frame 56 (C17orf56), mRNA.	504						integral to membrane				endometrium(1)|kidney(1)|lung(5)|prostate(1)|skin(3)	11	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GTCCTCTGGGACGATGTTTGG	0.662000														33			6		0	0	0.004482	0	0
RELN	5649	broad.mit.edu	37	7	103270546	103270546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:103270546G>A	uc022ajr.1	-	19	2703	c.2543C>T	c.(2542-2544)tCc>tTc	p.S848F	RELN_uc022ajq.1_Missense_Mutation_p.S848F|RELN_uc010liz.3_Missense_Mutation_p.S848F	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	848					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)		TTCTCTCTGGGAAGAATGATA	0.393000														70			23		0	0	0.005443	0	0
NSMAF	8439	broad.mit.edu	37	8	59511825	59511825	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:59511825T>C	uc011lee.2	-	18	1705	c.1644A>G	c.(1642-1644)aaA>aaG	p.K548K	NSMAF_uc003xtt.3_Silent_p.K517K	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	517	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TCCCTTTTTGTTTGTAGCCAA	0.368000														212			25		0	0	0.005443	0	0
DENND2A	27147	broad.mit.edu	37	7	140219486	140219486	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:140219486C>T	uc010lnk.3	-	18	3464	c.2944G>A	c.(2944-2946)Gaa>Aaa	p.E982K	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.E982K|DENND2A_uc003vvw.3_Missense_Mutation_p.E982K	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	982								p.E982Q(2)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GGGAGTGTTTCCAGATACTCT	0.522000														252			35		0	0	0.003214	0	0
MYO9A	4649	broad.mit.edu	37	15	72190946	72190946	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:72190946G>A	uc002atl.4	-	24	4371	c.3898C>T	c.(3898-3900)Cct>Tct	p.P1300S	MYO9A_uc010biq.3_Missense_Mutation_p.P920S|MYO9A_uc002atn.1_Missense_Mutation_p.P1281S|MYO9A_uc002atk.3_Missense_Mutation_p.P24S|MYO9A_uc002atm.1_Missense_Mutation_p.P24S	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	1300	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	ATP binding|GTPase activator activity|actin binding|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TCCTCTGAAGGAGAAATACCA	0.468000														60			24		0	0	0.002780	0	0
XIRP2	129446	broad.mit.edu	37	2	168099252	168099252	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:168099252A>G	uc002udx.3	+	8	1439	c.1350A>G	c.(1348-1350)gaA>gaG	p.E450E	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.E275E|XIRP2_uc010fpq.3_Silent_p.E228E|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	275			P -> A (in dbSNP:rs16853305).		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						GAATGACAGAAGAATTTCCTC	0.463000														42			7		0	0	0.001984	0	0
APOB	338	broad.mit.edu	37	2	21235215	21235215	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:21235215G>A	uc002red.3	-	25	4653	c.4525C>T	c.(4525-4527)Cct>Tct	p.P1509S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1509					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCAGTGTTAGGATCCCTCTGA	0.468000														253			143		0	0	0.003610	0	0
UGT2A1	10941	broad.mit.edu	37	4	70455222	70455222	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:70455222G>A	uc011caq.2	-	6	2066	c.1950C>T	c.(1948-1950)ttC>ttT	p.F650F	UGT2A1_uc010ihu.3_Silent_p.F484F|UGT2A1_uc003hem.4_Silent_p.F484F|UGT2A1_uc010ihs.3_Silent_p.F493F|UGT2A1_uc021xox.1_Silent_p.F449F|UGT2A1_uc010iht.3_Silent_p.F440F	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	484					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AGTGGTACTGGAACCAGGTGA	0.473000														62			56		0	0	0.003610	0	0
MDN1	23195	broad.mit.edu	37	6	90411652	90411652	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:90411652G>A	uc003pnn.1	-	53	8393	c.8277C>T	c.(8275-8277)atC>atT	p.I2759I		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	2759					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)		GAAGTCGGGGGATCTGGTGGA	0.428000														40			25		0	0	0.003330	0	0
FAT4	79633	broad.mit.edu	37	4	126239528	126239528	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:126239528C>T	uc003ifj.4	+	0	1962	c.1962C>T	c.(1960-1962)ttC>ttT	p.F654F		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	654	Cadherin 6.				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						AGCAAGCCTTCTACTCCCTGT	0.517000														29			18		0	0	0.004990	0	0
MAP2K4	6416	broad.mit.edu	37	17	11984809	11984809	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:11984809A>G	uc002gnj.3	+	2	424	c.355A>G	c.(355-357)Atg>Gtg	p.M119V	MAP2K4_uc002gnk.3_Missense_Mutation_p.M130V|MAP2K4_uc010vvi.2_Missense_Mutation_p.M1V|MAP2K4_uc010vvj.2_Intron|MIR744_uc021tqg.1_5'Flank	NM_003010	NP_003001	P45985	MP2K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 4 (MAP2K4), mRNA.	119	Protein kinase.				JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|cellular response to mechanical stimulus|innate immune response|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TGTCAACAAAATGGTCCACAA	0.408000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""									38			9		0	0	0.008291	0	0
CTNNBIP1	56998	broad.mit.edu	37	1	9932037	9932037	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:9932037A>G	uc001aqk.1	-	3	393	c.86T>C	c.(85-87)aTg>aCg	p.M29T	CTNNBIP1_uc001aql.1_Missense_Mutation_p.M29T	NM_020248	NP_064633	Q9NSA3	CNBP1_HUMAN	Homo sapiens catenin, beta interacting protein 1 (CTNNBIP1), transcript variant 1, mRNA.	29					Wnt receptor signaling pathway|anterior/posterior pattern formation|branching involved in ureteric bud morphogenesis|negative regulation of Wnt receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell proliferation|negative regulation of transcription initiation from RNA polymerase II promoter|positive regulation of monocyte differentiation|positive regulation of osteoblast differentiation|regulation of vascular permeability involved in acute inflammatory response	Axin-APC-beta-catenin-GSK3B complex|cytosol|nucleus	armadillo repeat domain binding|beta-catenin binding			cervix(1)|large_intestine(1)|lung(1)	3		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GTTTGATCCCATCTTCCGCAG	0.652000														34			9		0	0	0.008291	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140870697	140870697	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:140870697A>G	uc003lla.2	+	0	1890	c.1890A>G	c.(1888-1890)acA>acG	p.T630T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lkv.2_Intron|PCDHGC5_uc003lkw.2_Intron|PCDHGC5_uc003lky.2_Intron|PCDHGC5_uc011dbc.2_Silent_p.T630T	NM_018929	NP_061752	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 5 (PCDHGC5), transcript variant 1, mRNA.	630	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGCGCACAGCCCGGGCCT	0.602000														17			6		0	0	0.001168	0	0
MYH13	8735	broad.mit.edu	37	17	10209911	10209911	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:10209911C>T	uc002gmk.1	-	36	5421	c.5331G>A	c.(5329-5331)caG>caA	p.Q1777Q		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1777					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CGCTGGTGTCCTGTTCCTTCT	0.577000														74			42		0	0	0.002522	0	0
SLCO1A2	6579	broad.mit.edu	37	12	21487532	21487532	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:21487532G>A	uc001rer.3	-	0	301	c.50C>T	c.(49-51)tCc>tTc	p.S17F	SLCO1A2_uc010siq.2_5'UTR|SLCO1A2_uc001res.3_Missense_Mutation_p.S17F|SLCO1A2_uc010sio.2_5'UTR|SLCO1A2_uc010sip.2_5'UTR	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	17					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						CTTCAACTTGGAAAGACATCT	0.348000														66			25		0	0	0.007291	0	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100489584	100489584	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:100489584A>G	uc001tgq.3	-	6	930	c.701T>C	c.(700-702)tTa>tCa	p.L234S	UHRF1BP1L_uc001tgr.3_Missense_Mutation_p.L234S|UHRF1BP1L_uc001tgp.3_5'Flank	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	234										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TATTAGAACTAACTTTGTTGC	0.294000														32			4		0	0	0.000248	0	0
DONSON	29980	broad.mit.edu	37	21	34951723	34951723	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr21:34951723A>G	uc002ysk.3	-	8	1816	c.1496T>C	c.(1495-1497)gTa>gCa	p.V499A	DONSON_uc002ysi.1_Missense_Mutation_p.V259A|DONSON_uc002ysj.3_Missense_Mutation_p.V132A|DONSON_uc002ysm.3_Missense_Mutation_p.V499A	NM_017613	NP_060083	Q9NYP3	DONS_HUMAN	Homo sapiens downstream neighbor of SON (DONSON), mRNA.	499					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						TGGATACAGTACTGCAGAGAA	0.423000														70			19		0	0	0.001523	0	0
FZD1	8321	broad.mit.edu	37	7	90895933	90895933	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:90895933C>T	uc003ula.3	+	0	2151	c.1738C>T	c.(1738-1740)Ccc>Tcc	p.P580S		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	Homo sapiens frizzled family receptor 1 (FZD1), mRNA.	580					G-protein signaling, coupled to cGMP nucleotide second messenger|Wnt receptor signaling pathway, calcium modulating pathway|autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding|receptor binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTACGCTATCCCCTGCCCTCA	0.642000														55			14		0	0	0.003163	0	0
DGCR14	8220	broad.mit.edu	37	22	19125788	19125789	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:19125788_19125789GG>AA	uc002zou.3	-	6	901_902	c.864_865CC>TT	c.(862-867)atcccc>atTTcc	p.P289S		NM_022719	NP_073210	Q96DF8	DGC14_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 14 (DGCR14), mRNA.	289					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					GACTCCTGGGGGATCAGCTCCT	0.629000														21			6		0	0	0.004672	0	0
PKN3	29941	broad.mit.edu	37	9	131482253	131482253	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:131482253A>G	uc004bvw.3	+	19	2726	c.2333A>G	c.(2332-2334)tAc>tGc	p.Y778C	PKN3_uc010myh.3_Missense_Mutation_p.Y778C|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	778	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GACGCCCCCTACCCCGGCTTT	0.622000														75			17		0	0	0.008871	0	0
EVPL	2125	broad.mit.edu	37	17	74005598	74005598	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:74005598C>T	uc010wss.1	-	21	3982	c.3754G>A	c.(3754-3756)Gag>Aag	p.E1252K	EVPL_uc002jqi.2_Missense_Mutation_p.E1230K|EVPL_uc010wst.1_Missense_Mutation_p.E700K	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1230	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						TTCTCCACCTCCTTCTCCACA	0.632000														47			27		0	0	0.005443	0	0
CELSR3	1951	broad.mit.edu	37	3	48677499	48677499	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:48677499G>A	uc003cuf.1	-	35	9813	c.9813C>T	c.(9811-9813)ccC>ccT	p.P3271P	CELSR3_uc010hkf.3_Silent_p.P463P|CELSR3_uc010hkg.3_Silent_p.P1156P|CELSR3_uc003cul.3_Silent_p.P3173P	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	3173					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGGAGACAGGGGCAGAGGTG	0.682000														18			13		0	0	0.002450	0	0
DDX27	55661	broad.mit.edu	37	20	47851535	47851535	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:47851535A>G	uc002xuh.3	+	11	1491	c.1430A>G	c.(1429-1431)cAc>cGc	p.H477R		NM_017895	NP_060365	Q96GQ7	DDX27_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 (DDX27), mRNA.	477	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAGCAGGCCCACCGCATGCAC	0.582000														33			11		0	0	0.008291	0	0
COPS3	8533	broad.mit.edu	37	17	17179480	17179480	+	Splice_Site	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:17179480T>C	uc002grd.3	-	2	173	c.56_splice	c.e2-1	p.G19_splice	COPS3_uc010vwv.2_Splice_Site|COPS3_uc010vww.2_5'UTR	NM_003653	NP_001186054	Q9UNS2	CSN3_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis) (COPS3), transcript variant 1, mRNA.	19					cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TCATTTGCCCTGGAAAACAGG	0.458000														40			11		0	0	0.001368	0	0
ZNF516	9658	broad.mit.edu	37	18	74153867	74153867	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:74153867A>G	uc021ulp.1	-	2	1462	c.1144T>C	c.(1144-1146)Ttc>Ctc	p.F382L		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TGGAGGAAGAACTGCTTGGTG	0.721000														13			3		0	0	0.004672	0	0
TRIM3	10612	broad.mit.edu	37	11	6477534	6477534	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:6477534G>A	uc001mdh.3	-	6	1818	c.1422C>T	c.(1420-1422)ttC>ttT	p.F474F	TRIM3_uc001mdi.3_Silent_p.F474F|TRIM3_uc010raj.2_Silent_p.F355F|TRIM3_uc009yfd.3_Silent_p.F474F|TRIM3_uc010rak.1_Silent_p.F474F|TRIM3_uc001mdj.2_Silent_p.F355F	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	474					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACCAACACGGAAGACGAGCT	0.577000														24			14		0	0	0.006122	0	0
SERPINF1	5176	broad.mit.edu	37	17	1678351	1678351	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:1678351G>A	uc002ftl.3	+	6	801	c.644_splice	c.e6-1	p.G215_splice		NM_002615	NP_002606	P36955	PEDF_HUMAN	Homo sapiens serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1 (SERPINF1), mRNA.	215					cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						CTTCTTTCCAGGGCAGTGGGT	0.517000														53			32		0	0	0.002096	0	0
PEX14	5195	broad.mit.edu	37	1	10683172	10683172	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:10683172C>T	uc001arn.3	+	5	502	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	PEX14_uc009vmu.1_Nonsense_Mutation_p.Q118*|PEX14_uc009vmv.3_Nonsense_Mutation_p.Q97*|PEX14_uc010oam.2_Nonsense_Mutation_p.Q97*|PEX14_uc010oan.2_Nonsense_Mutation_p.Q118*|PEX14_uc009vmw.3_Nonsense_Mutation_p.Q97*	NM_004565	NP_004556	O75381	PEX14_HUMAN	Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA.	161					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		CAGCGTGGCCCAGACAGGTAA	0.592000														26			10		0	0	0.008291	0	0
GDF9	2661	broad.mit.edu	37	5	132197533	132197533	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:132197533A>C	uc003kxz.1	-	1	1365	c.1113T>G	c.(1111-1113)atT>atG	p.I371M	GDF9_uc011cxj.1_Missense_Mutation_p.I283M	NM_005260	NP_005251	O60383	GDF9_HUMAN	Homo sapiens growth differentiation factor 9 (GDF9), mRNA.	371					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCGGAGCCACAATCCAGTTGT	0.473000														30			32		0	0	0.002445	0	0
CD69	969	broad.mit.edu	37	12	9907776	9907776	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:9907776A>G	uc001qwk.3	-	2	350	c.269T>C	c.(268-270)gTt>gCt	p.V90A	CD69_uc010sgu.2_Missense_Mutation_p.V90A|CD69_uc010sgv.1_Missense_Mutation_p.V90A	NM_001781	NP_001772	Q07108	CD69_HUMAN	Homo sapiens CD69 molecule (CD69), transcript variant 1, mRNA.	90						integral to plasma membrane	sugar binding|transmembrane receptor activity			endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10						CTGGTAGCCAACCCAGTCCTC	0.448000														120			16		0	0	0.007413	0	0
GLP1R	2740	broad.mit.edu	37	6	39033977	39033977	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:39033977C>T	uc003ooj.4	+	4	467	c.407C>T	c.(406-408)tCc>tTc	p.S136F	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	136				SP -> WG (in Ref. 1; AAA03614).	activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	CCACAGAGCTCCCCGGAGGAG	0.602000														32			6		0	0	0.001168	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192849	132192849	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:132192849G>A	uc003vra.4	-	1	833	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	PLXNA4_uc003vrc.2_Missense_Mutation_p.R202W|PLXNA4_uc003vrb.3_Missense_Mutation_p.R202W	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	202	Sema.					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						GTCAGTTTCCGGCTGGAGATG	0.527000														208			15		0	0	0.001523	0	0
DCAF8L2	347442	broad.mit.edu	37	X	27766203	27766203	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:27766203G>A	uc011mjy.2	+	0	1278	c.1191G>A	c.(1189-1191)agG>agA	p.R397R		NM_001136533	NP_001130005			Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						ATGACCAGAGGAAAATTGATA	0.393000														7			21		0	0	0.001523	0	0
UGT1A1	54658	broad.mit.edu	37	2	234622071	234622071	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:234622071C>T	uc002vuw.3	+	0	434	c.434C>T	c.(433-435)tCc>tTc	p.S145F	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Missense_Mutation_p.S145F	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	144					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CATGCTACTTCCTTTGATGTG	0.463000														143			61		0	0	0.003610	0	0
WDR65	149465	broad.mit.edu	37	1	43664298	43664298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:43664298C>T	uc021omk.1	+	7	1555	c.1409C>T	c.(1408-1410)tCt>tTt	p.S470F	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.S459F|WDR65_uc001ciq.2_Missense_Mutation_p.S470F|WDR65_uc001cip.2_Missense_Mutation_p.S470F	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	470										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AAAGAATACTCTGTTAGAGGA	0.403000														16			24		0	0	0.004656	0	0
FEM1B	10116	broad.mit.edu	37	15	68583223	68583223	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:68583223T>C	uc002arg.3	+	1	2142	c.1527T>C	c.(1525-1527)ttT>ttC	p.F509F	FEM1B_uc002arh.3_Silent_p.F429F	NM_015322	NP_056137	Q9UK73	FEM1B_HUMAN	Homo sapiens fem-1 homolog b (C. elegans) (FEM1B), mRNA.	509					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCTGCAGCTTTCCAAATGCAC	0.478000														153			29		0	0	0.002096	0	0
RPS27	6232	broad.mit.edu	37	1	153963239	153963239	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:153963239C>T	uc001fdv.3	+	1	1	c.-33_splice	c.e1-1			NM_001030	NP_001021	P42677	RS27_HUMAN	Homo sapiens ribosomal protein S27 (RPS27), mRNA.						cell proliferation|endocrine pancreas development|mitotic prometaphase|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus	DNA binding|structural constituent of ribosome|zinc ion binding			kidney(1)	1	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GCTTTCGCTCCTTTCCGGCGG	0.537000														25			55		0	0	0.003610	0	0
HGS	9146	broad.mit.edu	37	17	79658481	79658481	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:79658481A>G	uc002kbg.3	+	7	677	c.542A>G	c.(541-543)cAc>cGc	p.H181R	HGS_uc010wus.2_Missense_Mutation_p.H181R	NM_004712	NP_004703	O14964	HGS_HUMAN	Homo sapiens hepatocyte growth factor-regulated tyrosine kinase substrate (HGS), mRNA.	181					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of JAK-STAT cascade|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TTACAGCACCACTGCCGGGCG	0.637000														60			12		0	0	0.001855	0	0
BEND4	389206	broad.mit.edu	37	4	42145831	42145831	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:42145831C>T	uc003gwn.3	-	2	1248	c.668G>A	c.(667-669)aGt>aAt	p.S223N	BEND4_uc003gwm.3_Missense_Mutation_p.S223N|BEND4_uc011byy.1_Missense_Mutation_p.S223N	NM_207406	NP_997289	Q6ZU67	BEND4_HUMAN	Homo sapiens BEN domain containing 4 (BEND4), transcript variant 1, mRNA.	223										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						TGAGGTCTGACTGTGGACCCC	0.433000														27			4		0	0	0.000248	0	0
NCKIPSD	51517	broad.mit.edu	37	3	48719937	48719937	+	Silent	SNP	T	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:48719937T>G	uc003cun.3	-	2	424	c.330A>C	c.(328-330)tcA>tcC	p.S110S	NCKIPSD_uc003cum.3_Silent_p.S110S|NCKIPSD_uc010hkh.2_Silent_p.S110S	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA.	110					NLS-bearing substrate import into nucleus|cytoskeleton organization|signal transduction	intermediate filament|nucleus	SH3 domain binding|cytoskeletal protein binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CACTGGAGGCTGAAGGGCCTC	0.567000														155			24		0	0	0.007291	0	0
MARK3	4140	broad.mit.edu	37	14	103969227	103969227	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:103969227T>C	uc001ymz.4	+	17	2591	c.1925T>C	c.(1924-1926)gTa>gCa	p.V642A	MARK3_uc001ymx.4_Missense_Mutation_p.V633A|MARK3_uc001ymw.4_Missense_Mutation_p.V618A|MARK3_uc001yna.4_Missense_Mutation_p.V602A|MARK3_uc001ymy.4_Missense_Mutation_p.V548A|MARK3_uc010awp.3_Missense_Mutation_p.V641A|MARK3_uc010tyb.2_Missense_Mutation_p.V437A|MARK3_uc010awq.3_Missense_Mutation_p.V215A|MARK3_uc001ynd.3_Missense_Mutation_p.V50A	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA.	642							ATP binding|protein binding|protein serine/threonine kinase activity	p.I639_K641del(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			AGTCGCAATGTATCTGCTGAG	0.423000														33			4		0	0	0.000602	0	0
CSE1L	1434	broad.mit.edu	37	20	47695141	47695141	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:47695141T>C	uc002xty.3	+	13	1598	c.1464T>C	c.(1462-1464)atT>atC	p.I488I	CSE1L_uc010zyg.2_Silent_p.I271I|CSE1L_uc010ghx.3_Silent_p.I432I|CSE1L_uc010ghy.3_Silent_p.I137I|CSE1L_uc010zyh.2_Silent_p.I137I	NM_001316	NP_001307	P55060	XPO2_HUMAN	Homo sapiens CSE1 chromosome segregation 1-like (yeast) (CSE1L), transcript variant 1, mRNA.	488					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			TCAAATATATTATGATTTTTA	0.313000														90			27		0	0	0.002096	0	0
GPR84	53831	broad.mit.edu	37	12	54756709	54756709	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:54756709A>T	uc021qyp.1	-	0	927	c.927T>A	c.(925-927)gaT>gaA	p.D309E	GPR84_uc001sfu.3_Missense_Mutation_p.D309E	NM_020370	NP_065103	Q9NQS5	GPR84_HUMAN	Homo sapiens G protein-coupled receptor 84 (GPR84), mRNA.	309						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CCGATGAAGAATCCGGAGCTC	0.498000														96			43		0	0	0.008740	0	0
RTEL1	51750	broad.mit.edu	37	20	62326722	62326722	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:62326722A>G	uc021wge.1	+	32	3711	c.3541A>G	c.(3541-3543)Atc>Gtc	p.I1181V	RTEL1_uc002yfu.2_Missense_Mutation_p.I1181V|RTEL1_uc011abd.2_Missense_Mutation_p.I1205V|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Missense_Mutation_p.I958V|RTEL1_uc002yfx.1_Missense_Mutation_p.I426V|TNFRSF6B_uc002yfy.3_5'UTR|TNFRSF6B_uc002yfz.3_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	1181					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	p.I1181I(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCAGAGCAAGATCTCGTCCTT	0.662000														114			37		0	0	0.006230	0	0
SPATA13	221178	broad.mit.edu	37	13	24823724	24823724	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:24823724G>A	uc001upd.2	+	4	2341	c.1763G>A	c.(1762-1764)cGg>cAg	p.R588Q	SPATA13_uc001upe.3_Intron|SPATA13_uc021rhg.1_Missense_Mutation_p.R588Q|SPATA13_uc001upg.2_5'UTR|SPATA13_uc010tcy.1_5'Flank|SPATA13_uc010tcz.2_5'Flank	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA.	0	C-terminal tail.				cell migration|filopodium assembly|lamellipodium assembly|regulation of Rho protein signal transduction|regulation of cell migration	cytoplasm|filopodium|lamellipodium|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein binding			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CCAAGGCCTCGGCCATTCTCT	0.607000														13			11		0	0	0.008291	0	0
FCGBP	8857	broad.mit.edu	37	19	40421287	40421287	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:40421287C>T	uc002omp.4	-	4	2642	c.2634G>A	c.(2632-2634)cgG>cgA	p.R878R		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	878	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGTCGAAGCGCCGGCCGTCGA	0.667000														14			4		0	0	0.000602	0	0
SLC6A2	6530	broad.mit.edu	37	16	55730157	55730157	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:55730157C>T	uc021tio.1	+	7	1219	c.1168C>T	c.(1168-1170)Ctg>Ttg	p.L390L	SLC6A2_uc002eif.3_Silent_p.L390L|SLC6A2_uc002eig.3_Silent_p.L390L|SLC6A2_uc002eii.3_Silent_p.L285L|SLC6A2_uc002eij.3_Silent_p.L104L	NM_001172504	NP_001165975	P23975	SC6A2_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2 (SLC6A2), transcript variant 1, mRNA.	390					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	AGTGTTCATCCTGTATCCAGA	0.517000														98			23		0	0	0.001882	0	0
EFTUD2	9343	broad.mit.edu	37	17	42959081	42959081	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:42959081T>C	uc002ihn.2	-	6	763	c.502A>G	c.(502-504)Act>Gct	p.T168A	EFTUD2_uc010wje.1_Missense_Mutation_p.T133A|EFTUD2_uc010wjf.1_Missense_Mutation_p.T158A	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	168						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				AGGATGTCAGTATAGCACAGC	0.453000														66			9		0	0	0.008291	0	0
ZBTB9	221504	broad.mit.edu	37	6	33423954	33423954	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:33423954A>G	uc003oeq.3	+	1	1345	c.1077A>G	c.(1075-1077)ggA>ggG	p.G359G	ZBTB9_uc021ywp.1_Silent_p.G359G	NM_152735	NP_689948	Q96C00	ZBTB9_HUMAN	Homo sapiens zinc finger and BTB domain containing 9 (ZBTB9), mRNA.	359	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GGGGTGGAGGACCTGGGGGAG	0.607000														20			3		0	0	0.004672	0	0
FGD4	121512	broad.mit.edu	37	12	32777368	32777368	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:32777368C>G	uc010ske.2	+	11	1944	c.1860C>G	c.(1858-1860)gaC>gaG	p.D620E	FGD4_uc001rlc.3_Missense_Mutation_p.D593E|FGD4_uc001rky.3_Missense_Mutation_p.D260E|FGD4_uc001rkz.3_Missense_Mutation_p.D508E|FGD4_uc001rla.3_Missense_Mutation_p.D164E|FGD4_uc001rlb.1_Non-coding_Transcript	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.	508					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|filopodium|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CTGCGCAAGACAAAGAAGAAT	0.353000														18			5		0	0	0.001168	0	0
SPEN	23013	broad.mit.edu	37	1	16259522	16259522	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:16259522A>T	uc001axk.1	+	10	6991	c.6787A>T	c.(6787-6789)Atg>Ttg	p.M2263L	SPEN_uc010obp.1_Missense_Mutation_p.M2222L	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2263	Interaction with MSX2 (By similarity).|RID.				Notch signaling pathway|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	nucleus	RNA binding|nucleotide binding|protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGAGGAAGGAATGGAGACAGA	0.572000														73			18		0	0	0.006122	0	0
ACAN	176	broad.mit.edu	37	15	89391246	89391246	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:89391246A>G	uc010upo.1	+	8	2083	c.1709A>G	c.(1708-1710)tAc>tGc	p.Y570C	ACAN_uc002bmx.3_Missense_Mutation_p.Y570C|ACAN_uc010upp.1_Missense_Mutation_p.Y570C|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	570					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)			TACGATGTCTACTGCTTTGTA	0.587000														127			24		0	0	0.004656	0	0
C19orf26	255057	broad.mit.edu	37	19	1230931	1230931	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:1230931T>C	uc002lrm.2	-	8	1580	c.1305A>G	c.(1303-1305)ccA>ccG	p.P435P		NM_152769	NP_689982	Q8N350	DOS_HUMAN	Homo sapiens chromosome 19 open reading frame 26 (C19orf26), mRNA.	260						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)		TGGTCCATGCTGGAGAGGTGG	0.716000										HNSCC(14;0.022)				44			4		0	0	0.000602	0	0
NCOA5	57727	broad.mit.edu	37	20	44708057	44708057	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:44708057T>C	uc002xrd.3	-	0	535	c.7A>G	c.(7-9)Acg>Gcg	p.T3A	NCOA5_uc002xre.3_Missense_Mutation_p.T3A	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	3	Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	ATP binding|aminoacyl-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				GATGGAGCCGTATTCATATTT	0.443000														49			10		0	0	0.001368	0	0
TIGD5	84948	broad.mit.edu	37	8	144681413	144681413	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:144681413A>G	uc003yyx.2	+	0	1340	c.1340A>G	c.(1339-1341)gAc>gGc	p.D447G	EEF1D_uc011lki.2_5'Flank|EEF1D_uc003yyv.3_5'Flank|EEF1D_uc003yyu.3_5'Flank|EEF1D_uc011lkk.2_5'Flank|EEF1D_uc003yyt.3_5'Flank|EEF1D_uc003yyr.3_5'Flank|EEF1D_uc003yys.3_5'Flank|EEF1D_uc011lkl.2_5'Flank	NM_032862	NP_116251	E7EWS2	E7EWS2_HUMAN	Homo sapiens tigger transposable element derived 5 (TIGD5), mRNA.	447					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			TCCCCGCTGGACTTCATGCGC	0.672000														33			6		0	0	0.003080	0	0
SLC5A1	6523	broad.mit.edu	37	22	32479097	32479097	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:32479097A>G	uc003amc.3	+	6	870	c.620A>G	c.(619-621)cAg>cGg	p.Q207R	SLC5A1_uc011alz.2_Missense_Mutation_p.Q80R	NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	207					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GACACCTTGCAGACGGTGATC	0.582000														39			8		0	0	0.008291	0	0
SCN7A	6332	broad.mit.edu	37	2	167328864	167328864	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:167328864G>A	uc002udu.2	-	4	665	c.535C>T	c.(535-537)Cca>Tca	p.P179S	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	179					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.D178V(1)		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						CAGTTCCATGGATCACCGAGG	0.353000														16			8		0	0	0.004482	0	0
CHPF2	54480	broad.mit.edu	37	7	150932236	150932236	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:150932236T>C	uc003wjr.1	+	1	1879	c.366T>C	c.(364-366)cgT>cgC	p.R122R	CHPF2_uc003wjq.1_Silent_p.R114R	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	122						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CTGTGAACCGTACGGTGGCCC	0.642000														174			18		0	0	0.001523	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204438620	204438620	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:204438620T>C	uc001haw.3	-	2	790	c.311A>G	c.(310-312)aAc>aGc	p.N104S	PIK3C2B_uc010pqv.2_Missense_Mutation_p.N104S|PIK3C2B_uc001hax.1_Missense_Mutation_p.N104S|PIK3C2B_uc009xbd.1_Non-coding_Transcript	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	104	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGTAGAGTGGTTGGGCGGCCC	0.577000														54			11		0	0	0.001855	0	0
SLX4	84464	broad.mit.edu	37	16	3632567	3632567	+	Missense_Mutation	SNP	G	A	A	rs143818824	byFrequency	TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:3632567G>A	uc002cvp.2	-	14	5908	c.5281C>T	c.(5281-5283)Cgc>Tgc	p.R1761C		NM_032444	NP_115820	Q8IY92	SLX4_HUMAN	Homo sapiens SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae) (SLX4), mRNA.	1761	Interaction with PLK1 and TERF2-TERF2IP.|Interaction with SLX1.				DNA double-strand break processing involved in repair via single-strand annealing|double-strand break repair via homologous recombination|nucleotide-excision repair	Slx1-Slx4 complex	enzyme activator activity|protein binding			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						GGCTTGGAGCGGATGTAGCAC	0.652000								Direct reversal of damage						38			17		0	0	0.004007	0	0
NT5C1B-RDH14	100526794	broad.mit.edu	37	2	18768805	18768805	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:18768805C>T	uc010exr.3	-	1	196	c.84G>A	c.(82-84)aaG>aaA	p.K28K	NT5C1B-RDH14_uc002rcy.3_Silent_p.K28K|NT5C1B-RDH14_uc010yju.2_Silent_p.K28K|NT5C1B-RDH14_uc002rcz.3_Silent_p.K28K|NT5C1B-RDH14_uc010yjw.2_Silent_p.K28K|NT5C1B-RDH14_uc010yjv.2_Silent_p.K28K|NT5C1B-RDH14_uc010exs.3_Silent_p.K28K|NT5C1B-RDH14_uc002rda.3_Silent_p.K28K|NT5C1B-RDH14_uc002rdb.1_5'Flank	NM_001199103	NP_001186032	Q96P26	5NT1B_HUMAN	Homo sapiens NT5C1B-RDH14 readthrough (NT5C1B-RDH14), transcript variant 1, mRNA.	0					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding										TGTCAGATTCCTTTCTTTTTT	0.388000														86			46		0	0	0.003610	0	0
NUMB	8650	broad.mit.edu	37	14	73749086	73749086	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:73749086T>C	uc001xny.1	-	10	1397	c.1077A>G	c.(1075-1077)ccA>ccG	p.P359P	NUMB_uc010aro.1_Intron|NUMB_uc010arp.1_Intron|NUMB_uc010arq.1_Silent_p.P261P|NUMB_uc010arr.1_Silent_p.P250P|NUMB_uc001xoa.1_Silent_p.P359P|NUMB_uc001xnz.1_Silent_p.P348P|NUMB_uc001xob.1_Silent_p.P348P|NUMB_uc001xod.1_Silent_p.P359P|NUMB_uc001xoc.1_Silent_p.P359P|NUMB_uc010ars.1_Silent_p.P348P|NUMB_uc010ttz.1_Silent_p.P105P	NM_001005743	NP_001005743	P49757	NUMB_HUMAN	Homo sapiens numb homolog (Drosophila) (NUMB), transcript variant 1, mRNA.	359					axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		taggagattgtggtgccacca	0.512000														47			4		0	0	0.000248	0	0
RBM15B	29890	broad.mit.edu	37	3	51431421	51431421	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:51431421A>G	uc003dbd.3	+	0	2723	c.2591A>G	c.(2590-2592)cAg>cGg	p.Q864R		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	Homo sapiens RNA binding motif protein 15B (RBM15B), mRNA.	864	Interaction with Epstein-Barr virus BMLF1.|SPOC.				RNA splicing|interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	RNA binding|nucleotide binding|protein binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTTTCCCAGCAGTACCTCCAG	0.577000														80			16		0	0	0.004990	0	0
AHNAK	79026	broad.mit.edu	37	11	62294596	62294596	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:62294596T>C	uc001ntl.3	-	4	7593	c.7293A>G	c.(7291-7293)ggA>ggG	p.G2431G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	2431					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGCCCTCTGGTCCCTCAATGT	0.463000														73			18		0	0	0.004990	0	0
ZFYVE19	84936	broad.mit.edu	37	15	41106354	41106354	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:41106354A>G	uc001zmt.1	+	10	1860	c.1346A>G	c.(1345-1347)cAt>cGt	p.H449R	ZFYVE19_uc001zmu.1_Missense_Mutation_p.H381R|ZFYVE19_uc001zmv.1_Missense_Mutation_p.H274R	NM_001077268	NP_001070736	Q96K21	ZFY19_HUMAN	Homo sapiens zinc finger, FYVE domain containing 19 (ZFYVE19), mRNA.	449							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGAGAGGGCCATGATGCCTTT	0.582000														29			14		0	0	0.003163	0	0
KLHDC7A	127707	broad.mit.edu	37	1	18809104	18809104	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:18809104C>A	uc001bax.3	+	0	1681	c.1629C>A	c.(1627-1629)ttC>ttA	p.F543L	KLHDC7A_uc009vpg.3_Missense_Mutation_p.F325L	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	543						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)		ATTATCTCTTCGTGGTGTCCG	0.667000														31			28		2.12542e-12	3.73493e-12	0.006320	1	0
HEPACAM2	253012	broad.mit.edu	37	7	92826820	92826820	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:92826820C>T	uc011khy.2	-	5	1208	c.1185G>A	c.(1183-1185)tgG>tgA	p.W395*	HEPACAM2_uc003uml.3_Nonsense_Mutation_p.W360*|HEPACAM2_uc010lff.3_Nonsense_Mutation_p.W360*|HEPACAM2_uc003umm.3_Nonsense_Mutation_p.W372*	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	372						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						GATATTTTTTCCATAGGAAGA	0.303000														120			21		0	0	0.001882	0	0
STK11	6794	broad.mit.edu	37	19	1220689	1220689	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:1220689T>C	uc002lrl.1	+	4	1822	c.707T>C	c.(706-708)gTg>gCg	p.V236A		NM_000455	NP_000446	Q15831	STK11_HUMAN	Homo sapiens serine/threonine kinase 11 (STK11), mRNA.	236	Protein kinase.				anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.K235*(1)|p.V236fs*30(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		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)|Renal(1328;0.0183)|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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCTTCAAGGTGGACATCTGG	0.701000		14	"""D, Mis, N, F, S"""		"""NSCLC, pancreatic"""	"""jejunal harmartoma, ovarian, testicular, pancreatic"""			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)				23			9		0	0	0.006214	0	0
C14orf109	26175	broad.mit.edu	37	14	93652910	93652910	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:93652910T>C	uc001ybk.4	+	1	388	c.290T>C	c.(289-291)gTg>gCg	p.V97A	MOAP1_uc001ybj.3_5'Flank|MOAP1_uc021saw.1_5'Flank|C14orf109_uc010auo.3_Missense_Mutation_p.V135A|C14orf109_uc021sax.1_Missense_Mutation_p.V97A	NM_015676	NP_056491	Q8N6I4	CN109_HUMAN	Homo sapiens chromosome 14 open reading frame 109 (C14orf109), transcript variant 2, mRNA.	129						integral to membrane				kidney(1)	1		all_cancers(154;0.11)|Acute lymphoblastic leukemia(33;0.0488)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		CCCAAAACAGTGGGCTACTGT	0.423000														131			25		0	0	0.006320	0	0
HLTF	6596	broad.mit.edu	37	3	148756980	148756980	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:148756980G>A	uc003ewq.1	-	22	2870	c.2652C>T	c.(2650-2652)tcC>tcT	p.S884S	HLTF_uc003ewr.1_Silent_p.S884S|HLTF_uc003ews.1_Silent_p.S883S|HLTF_uc010hve.1_Silent_p.S883S	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	884	Helicase C-terminal.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTTGGGCCATGGAACCATCCA	0.363000														32			12		0	0	0.000978	0	0
C1orf112	55732	broad.mit.edu	37	1	169796270	169796270	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:169796270A>G	uc001ggq.3	+	10	1627	c.927A>G	c.(925-927)acA>acG	p.T309T	C1orf112_uc001ggj.3_Non-coding_Transcript|C1orf112_uc001ggp.3_Silent_p.T309T|C1orf112_uc009wvt.3_5'UTR|C1orf112_uc010plu.1_Silent_p.T280T|C1orf112_uc009wvu.1_Silent_p.T185T|C1orf112_uc001ggr.3_Silent_p.T174T|C1orf112_uc010plv.2_Silent_p.T251T	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	Homo sapiens chromosome 1 open reading frame 112 (C1orf112), mRNA.	309										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCCTAGTGACACTGGATCCAC	0.403000														156			10		0	0	0.000978	0	0
BTBD6	90135	broad.mit.edu	37	14	105716494	105716494	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:105716494T>C	uc010tyq.2	+	4	1051	c.943T>C	c.(943-945)Tac>Cac	p.Y315H	BRF1_uc010tyo.1_Intron|BRF1_uc010typ.1_Intron|BRF1_uc001yql.2_5'Flank|BRF1_uc001yqo.2_5'Flank|BRF1_uc001yqp.2_Intron|BRF1_uc010axg.1_Intron|BRF1_uc001yqn.2_5'Flank|BRF1_uc010axh.1_5'Flank|BRF1_uc010axj.1_5'Flank	NM_033271	NP_150374	Q96KE9	BTBD6_HUMAN	Homo sapiens BTB (POZ) domain containing 6 (BTBD6), mRNA.	315						cytoplasmic mRNA processing body				endometrium(1)|lung(3)	4		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.0163)|Epithelial(46;0.0391)	Epithelial(152;0.18)		CTTCCTGTGGTACACGGCCAC	0.607000														89			18		0	0	0.008871	0	0
RREB1	6239	broad.mit.edu	37	6	7231322	7231322	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:7231322C>T	uc003mxb.3	+	9	3482	c.2990C>T	c.(2989-2991)cCg>cTg	p.P997L	RREB1_uc021yky.1_Missense_Mutation_p.P997L|RREB1_uc003mxc.3_Missense_Mutation_p.P997L|RREB1_uc010jnx.3_Missense_Mutation_p.P997L|RREB1_uc021ykz.1_Missense_Mutation_p.P997L|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	997	Pro-rich.				Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCCCCTGCTCCGGCGGCCACC	0.687000														19			9		0	0	0.008291	0	0
PPP1R10	5514	broad.mit.edu	37	6	30571908	30571908	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:30571908A>G	uc003nqn.1	-	13	1937	c.1385T>C	c.(1384-1386)gTg>gCg	p.V462A	PPP1R10_uc010jsc.1_Missense_Mutation_p.V116A	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	462	Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|RNA binding|protein phosphatase inhibitor activity|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CCGGGGGCACACCCAGGGCAC	0.577000														177			23		0	0	0.007291	0	0
MINK1	50488	broad.mit.edu	37	17	4789488	4789488	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:4789488G>A	uc010vsl.2	+	8	1012	c.768G>A	c.(766-768)aaG>aaA	p.K256K	MINK1_uc010vsk.2_Silent_p.K256K|MINK1_uc010vsm.2_Silent_p.K256K|MINK1_uc010vsn.2_Silent_p.K256K|MINK1_uc010vso.2_Silent_p.K201K|MINK1_uc010vsp.2_5'UTR	NM_153827	NP_722549	Q8N4C8	MINK1_HUMAN	Homo sapiens misshapen-like kinase 1 (MINK1), transcript variant 3, mRNA.	256	Protein kinase.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TCAAGTCCAAGAAGTGGTAGG	0.592000														37			20		0	0	0.002299	0	0
ULBP1	80329	broad.mit.edu	37	6	150290481	150290481	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:150290481A>T	uc003qnp.3	+	2	653	c.610A>T	c.(610-612)Atg>Ttg	p.M204L		NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	Homo sapiens UL16 binding protein 1 (ULBP1), mRNA.	204	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	MHC class I protein complex|anchored to membrane|endoplasmic reticulum	MHC class I receptor activity			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		CTGGGAACAAATGCTGGATCC	0.453000														34			30		0	0	0.003271	0	0
LOXL3	84695	broad.mit.edu	37	2	74763910	74763910	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:74763910T>C	uc002smp.1	-	4	910	c.838A>G	c.(838-840)Agc>Ggc	p.S280G	LOXL3_uc002smo.1_Intron|LOXL3_uc010ffm.1_Missense_Mutation_p.S280G|LOXL3_uc002smq.1_Intron|LOXL3_uc010ffn.1_Intron	NM_032603	NP_115992	P58215	LOXL3_HUMAN	Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA.	280	SRCR 2.					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						GGCACACAGCTCACCACTGCA	0.627000														97			16		0	0	0.004007	0	0
SNRNP200	23020	broad.mit.edu	37	2	96944664	96944664	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:96944664A>G	uc002svu.3	-	36	5338	c.5206T>C	c.(5206-5208)Ttc>Ctc	p.F1736L	SNRNP200_uc002svt.3_Missense_Mutation_p.F346L|SNRNP200_uc010yuj.2_Non-coding_Transcript	NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	1736	Helicase C-terminal 2.		F -> L (in a colorectal cancer sample; somatic mutation).			U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.F1736L(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCAGCATTGAAGTGGTCATGC	0.488000														83			20		0	0	0.003330	0	0
TCF25	22980	broad.mit.edu	37	16	89977638	89977638	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:89977638T>G	uc002fpb.2	+	17	2105	c.2023T>G	c.(2023-2025)Tgg>Ggg	p.W675G	TCF25_uc002fpc.2_3'UTR|BC160930_uc010ciy.1_5'Flank	NM_014972	NP_055787	Q9BQ70	TCF25_HUMAN	Homo sapiens transcription factor 25 (basic helix-loop-helix) (TCF25), mRNA.	675					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GGAGGGGGAGTGGGACTGAGC	0.607000														39			13		0	0	0.002450	0	0
STK4	6789	broad.mit.edu	37	20	43615861	43615861	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:43615861T>C	uc002xnb.3	+	4	539	c.449T>C	c.(448-450)aTc>aCc	p.I150T	STK4_uc010ggx.3_Missense_Mutation_p.I150T|STK4_uc010ggy.3_Intron|STK4_uc010ggw.1_Missense_Mutation_p.I150T	NM_006282	NP_006273	Q13043	STK4_HUMAN	Homo sapiens serine/threonine kinase 4 (STK4), mRNA.	150	Protein kinase.				apoptosis|cell morphogenesis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of apoptosis|protein autophosphorylation	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein homodimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				CACCGAGATATCAAGGCAGGA	0.313000														93			14		0	0	0.001855	0	0
PLCG2	5336	broad.mit.edu	37	16	81969853	81969853	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:81969853C>T	uc002fgt.3	+	26	3100	c.2922C>T	c.(2920-2922)ctC>ctT	p.L974L		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	974	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.D973N(2)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCGTCGACCTCCTGAAGTACA	0.527000														31			7		0	0	0.003080	0	0
NME9	347736	broad.mit.edu	37	3	138037005	138037006	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:138037005_138037006GG>AA	uc003esg.3	-	3	279_280	c.251_252CC>TT	c.(250-252)acc>aTT	p.T84I	NME9_uc003esd.1_Non-coding_Transcript|NME9_uc010huf.1_Intron|NME9_uc003ese.1_Missense_Mutation_p.T62I	NM_178130	NP_835231	Q86XW9	TXND6_HUMAN	Homo sapiens NME gene family member 9 (NME9), mRNA.	84	Thioredoxin.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell redox homeostasis	cytoplasm|cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	p.T62N(1)									AAAACAGAAAGGTTGGCTCGCA	0.426000														245			96		0	0	0.004672	0	0
CD163	9332	broad.mit.edu	37	12	7647853	7647853	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:7647853C>T	uc001qsz.3	-	5	1372	c.1244G>A	c.(1243-1245)gGa>gAa	p.G415E	CD163_uc001qta.3_Missense_Mutation_p.G415E|CD163_uc009zfw.2_Missense_Mutation_p.G415E	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	415	SRCR 4.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AGATCCACATCCCAGCTGCCT	0.468000														76			38		0	0	0.006999	0	0
SGCG	6445	broad.mit.edu	37	13	23808834	23808834	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:23808834G>A	uc001uom.2	+	2	435	c.280G>A	c.(280-282)Gaa>Aaa	p.E94K	SGCG_uc009zzv.2_Missense_Mutation_p.E94K|SGCG_uc009zzw.2_Missense_Mutation_p.E94K	NM_000231	NP_000222	Q13326	SGCG_HUMAN	Homo sapiens sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein) (SGCG), mRNA.	94					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(29;4.34e-23)|all_epithelial(30;4.4e-19)|all_lung(29;2.45e-18)|Lung SC(185;0.0228)|Breast(139;0.188)		all cancers(112;0.00255)|Epithelial(112;0.0129)|OV - Ovarian serous cystadenocarcinoma(117;0.0365)|Lung(94;0.205)		GTATGCCAAAGAAATACACTC	0.333000														80			34		0	0	0.004289	0	0
VIL1	7429	broad.mit.edu	37	2	219301904	219301904	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:219301904A>G	uc002vib.3	+	15	2051	c.2029A>G	c.(2029-2031)Act>Gct	p.T677A	VIL1_uc010zke.2_Missense_Mutation_p.T366A|VIL1_uc002via.3_Missense_Mutation_p.T677A	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	677	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGCAGCAACCACTGCACAGGA	0.577000														67			21		0	0	0.002299	0	0
PRSS45	377047	broad.mit.edu	37	3	46784478	46784478	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:46784478G>A	uc010hjl.3	-	2	413	c.378C>T	c.(376-378)tcC>tcT	p.S126S	PRSS50_uc021wxe.1_Intron|PRSS50_uc011bam.2_Non-coding_Transcript	NM_199183	NP_954652	Q7RTY3	PRS45_HUMAN	Homo sapiens protease, serine, 45 (PRSS45), mRNA.	158	Peptidase S1.				proteolysis		serine-type endopeptidase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						GGGGGAAGAAGGACTTCTTGT	0.532000														35			14		0	0	0.001855	0	0
ZNF831	128611	broad.mit.edu	37	20	57828170	57828170	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:57828170G>A	uc002yan.3	+	3	4165	c.4165G>A	c.(4165-4167)Gaa>Aaa	p.E1389K		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1389						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AATTGTCAGGGAAATGGACAA	0.463000														99			49		0	0	0.003610	0	0
PLCL2	23228	broad.mit.edu	37	3	17052779	17052779	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:17052779C>T	uc011awc.2	+	2	2013	c.1917C>T	c.(1915-1917)tcC>tcT	p.S639S	PLCL2_uc011awd.2_Silent_p.S521S	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	647	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						AAGTCTGTTCCTTTAATGAAG	0.408000														99			32		0	0	0.008740	0	0
FOLH1	2346	broad.mit.edu	37	11	49179526	49179526	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:49179526G>A	uc001ngy.3	-	13	1771	c.1510C>T	c.(1510-1512)Cca>Tca	p.P504S	FOLH1_uc009yly.3_Missense_Mutation_p.P489S|FOLH1_uc009ylz.3_Missense_Mutation_p.P489S|FOLH1_uc001ngz.3_Missense_Mutation_p.P504S|FOLH1_uc009yma.3_Missense_Mutation_p.P196S	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	504	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CTGAACTCTGGGGAAGGACTT	0.353000														33			26		0	0	0.002445	0	0
PRPSAP2	5636	broad.mit.edu	37	17	18769241	18769241	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:18769241T>C	uc002gup.2	+	2	417	c.95T>C	c.(94-96)aTg>aCg	p.M32T	PRPSAP2_uc002guo.2_5'UTR|PRPSAP2_uc010vyi.2_Missense_Mutation_p.M32T|PRPSAP2_uc010vyj.2_5'UTR|PRPSAP2_uc010vyk.2_Missense_Mutation_p.M32T	NM_002767	NP_002758	O60256	KPRB_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 2 (PRPSAP2), transcript variant 1, mRNA.	32					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						TCATCATGTATGGAGCTATCA	0.328000														23			6		0	0	0.001168	0	0
GCSHP3	100329109	broad.mit.edu	37	2	206980946	206980946	+	RNA	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:206980946G>A	uc002vbc.2	-	0		c.351C>T								Homo sapiens glycine cleavage system protein H (aminomethyl carrier) pseudogene (LOC100329109), non-coding RNA.																		TTCATAACGAGATTTGTTTAC	0.368000														51			28		0	0	0.005443	0	0
SDCCAG3	10807	broad.mit.edu	37	9	139301687	139301687	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:139301687A>G	uc004chi.3	-	4	934	c.729T>C	c.(727-729)tcT>tcC	p.S243S	SDCCAG3_uc004chj.3_Silent_p.S220S|SDCCAG3_uc004chk.3_Silent_p.S170S	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN	Homo sapiens serologically defined colon cancer antigen 3 (SDCCAG3), transcript variant 1, mRNA.	243						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		TCCCTGCCGGAGAGGCCGGAG	0.597000														23			5		0	0	0.000602	0	0
LIMCH1	22998	broad.mit.edu	37	4	41615515	41615515	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:41615515T>C	uc003gvz.4	+	4	459	c.42T>C	c.(40-42)agT>agC	p.S14S	LIMCH1_uc003gvt.1_Silent_p.S14S|LIMCH1_uc003gwe.4_Silent_p.S173S|LIMCH1_uc003gvu.4_Silent_p.S173S|LIMCH1_uc003gvv.4_Silent_p.S173S|LIMCH1_uc003gvw.4_Silent_p.S173S|LIMCH1_uc003gvx.4_Silent_p.S173S|LIMCH1_uc003gvy.4_Silent_p.S14S|LIMCH1_uc003gwa.4_Silent_p.S14S|LIMCH1_uc011byu.2_Silent_p.S19S|LIMCH1_uc003gwc.4_Silent_p.S19S|LIMCH1_uc003gwd.4_Silent_p.S19S|LIMCH1_uc011byv.2_5'UTR|LIMCH1_uc003gwb.1_Silent_p.S21S	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	173					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CTAAACGCAGTATCCGAGACA	0.493000														49			7		0	0	0.001984	0	0
YTHDF1	54915	broad.mit.edu	37	20	61833649	61833649	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:61833649A>G	uc002yeh.3	-	3	1937	c.1643T>C	c.(1642-1644)gTg>gCg	p.V548A	YTHDF1_uc011aaq.2_Missense_Mutation_p.V498A	NM_017798	NP_060268	Q9BYJ9	YTHD1_HUMAN	Homo sapiens YTH domain family, member 1 (YTHDF1), mRNA.	548										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CTTGCGCACCACCTCCTCCTC	0.557000														57			6		0	0	0.006214	0	0
IL18RAP	8807	broad.mit.edu	37	2	103040432	103040432	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:103040432G>A	uc002tbx.3	+	3	716	c.232G>A	c.(232-234)Gac>Aac	p.D78N	IL18RAP_uc010fiz.3_Intron	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	78					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGGTAGTAACGACCTATCTGA	0.438000														32			18		0	0	0.006122	0	0
ACPL2	92370	broad.mit.edu	37	3	141011642	141011642	+	Silent	SNP	C	T	T	rs145988315	byFrequency	TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:141011642C>T	uc003etu.3	+	7	1337	c.1038C>T	c.(1036-1038)ctC>ctT	p.L346L	ACPL2_uc003etv.3_Silent_p.L346L|ACPL2_uc011bna.2_Silent_p.L308L|ACPL2_uc011bnb.2_Silent_p.L329L	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	Homo sapiens acid phosphatase-like 2 (ACPL2), transcript variant 1, mRNA.	346						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						GGTATTCTCTCCTGGGTGCCC	0.522000														70			29		0	0	0.001786	0	0
GPRC6A	222545	broad.mit.edu	37	6	117121776	117121776	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:117121776C>T	uc003pxj.1	-	3	1541	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	GPRC6A_uc003pxk.1_Missense_Mutation_p.E332K|GPRC6A_uc003pxl.1_Intron	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	507					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TTTTTTGTTTCCTGATCTGGG	0.423000														40			32		0	0	0.004289	0	0
PRAMEF22	653606	broad.mit.edu	37	1	13036565	13036565	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:13036565G>A	uc009vnq.1	+	1	637	c.637G>A	c.(637-639)Gaa>Aaa	p.E213K	PRAMEF6_uc001aur.2_Intron	NM_001100631	NP_001094101	A3QJZ6	PRA22_HUMAN	Homo sapiens PRAME family member 22 (PRAMEF22), mRNA.	213										kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						CCAAGTGTTGGAAATTTGGAA	0.423000														58			12		0	0	0.007413	0	0
REXO1	57455	broad.mit.edu	37	19	1828589	1828589	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:1828589G>A	uc002lua.4	-	1	294	c.199C>T	c.(199-201)Ccc>Tcc	p.P67S	REXO1_uc010dsr.1_Missense_Mutation_p.P21S	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	67						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|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)		CTCTGCGCGGGGGGCTTGGGC	0.682000														20			6		0	0	0.001984	0	0
FNDC1	84624	broad.mit.edu	37	6	159650965	159650965	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:159650965C>T	uc010kjv.3	+	9	1499	c.1299C>T	c.(1297-1299)ttC>ttT	p.F433F	FNDC1_uc010kjw.1_Intron	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	433	Fibronectin type-III 4.					extracellular region		p.F433F(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCTATCTTTTCAAAATCCGGG	0.527000														75			94		0	0	0.003610	0	0
PLEC	5339	broad.mit.edu	37	8	145007491	145007491	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:145007491A>G	uc003zaf.1	-	12	1873	c.1703T>C	c.(1702-1704)gTg>gCg	p.V568A	PLEC_uc003zab.1_Missense_Mutation_p.V431A|PLEC_uc003zac.1_Missense_Mutation_p.V435A|PLEC_uc003zad.2_Missense_Mutation_p.V431A|PLEC_uc003zae.1_Missense_Mutation_p.V399A|PLEC_uc003zag.1_Missense_Mutation_p.V409A|PLEC_uc003zah.2_Missense_Mutation_p.V417A|PLEC_uc003zaj.2_Missense_Mutation_p.V458A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	568	Globular 1.				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						CCGCTGTGGCACTTTGCCTGC	0.642000														76			14		0	0	0.004990	0	0
C3orf20	84077	broad.mit.edu	37	3	14744696	14744696	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:14744696C>T	uc003byy.3	+	5	1257	c.805C>T	c.(805-807)Cct>Tct	p.P269S	C3orf20_uc003byz.3_Missense_Mutation_p.P147S|C3orf20_uc003bza.3_Missense_Mutation_p.P147S|C3orf20_uc003byx.2_Missense_Mutation_p.P269S	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	269						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						AGTGGGAACCCCTGCCAACAG	0.592000														132			42		0	0	0.007835	0	0
NUP210L	91181	broad.mit.edu	37	1	154067420	154067420	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:154067420T>G	uc001fdw.3	-	14	2250	c.2178A>C	c.(2176-2178)ttA>ttC	p.L726F	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.L726F	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	726						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTTGTTCCCCTAAATCCAGGC	0.393000														27			15		0	0	0.006122	0	0
TTI1	9675	broad.mit.edu	37	20	36641607	36641607	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:36641607A>G	uc002xhl.3	-	2	821	c.612T>C	c.(610-612)gaT>gaC	p.D204D	TTI1_uc002xhm.3_Silent_p.D204D	NM_014657	NP_055472	O43156	TTI1_HUMAN	Homo sapiens TELO2 interacting protein 1 (TTI1), mRNA.	204							binding			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						AGGCAAACAAATCCCCCAGCT	0.423000														73			12		0	0	0.002450	0	0
TOP2B	7155	broad.mit.edu	37	3	25661495	25661495	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:25661495A>T	uc011awn.1	-	22	2964	c.2921T>A	c.(2920-2922)tTa>tAa	p.L974*	TOP2B_uc003cdj.2_Nonsense_Mutation_p.L969*|TOP2B_uc021wug.1_Nonsense_Mutation_p.L969*|TOP2B_uc011awm.1_5'UTR	NM_001068	NP_001059	Q02880	TOP2B_HUMAN	Homo sapiens topoisomerase (DNA) II beta 180kDa (TOP2B), mRNA.	974					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	DNA topoisomerase complex (ATP-hydrolyzing)|WINAC complex|cytosol|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|chromatin binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						ATCAGAAATTAATGCTGGTGT	0.323000														15			5		0	0	0.000602	0	0
SLFN12	55106	broad.mit.edu	37	17	33749398	33749398	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:33749398C>T	uc002hji.4	-	1	1027	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	SLFN12_uc002hjj.4_Missense_Mutation_p.R217Q|SLFN12_uc010cts.3_Missense_Mutation_p.R217Q	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	217							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCTTTAATTCGTTGTAACAA	0.303000														85			42		0	0	0.003214	0	0
RECK	8434	broad.mit.edu	37	9	36083436	36083436	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:36083436G>C	uc003zyv.3	+	7	600	c.514G>C	c.(514-516)Gac>Cac	p.D172H	RECK_uc003zyu.4_Missense_Mutation_p.D172H|RECK_uc003zyw.3_Missense_Mutation_p.D44H|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	172	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TTTTCGAACAGACTCTTCTCC	0.398000														132			15		0	0	0.003163	0	0
A2ML1	144568	broad.mit.edu	37	12	8990163	8990163	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:8990163G>A	uc001quz.4	+	8	953	c.855_splice	c.e8+1	p.Q285_splice		NM_144670	NP_653271	B3KVV6	B3KVV6_HUMAN	Homo sapiens alpha-2-macroglobulin-like 1 (A2ML1), mRNA.	129						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						CTCTGGACAGGTGAGTAAATG	0.542000														40			5		0	0	0.000602	0	0
VNN2	8875	broad.mit.edu	37	6	133072294	133072294	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:133072294T>C	uc003qdt.3	-	4	1201	c.1190A>G	c.(1189-1191)gAg>gGg	p.E397G	VNN2_uc003qds.3_Missense_Mutation_p.E106G|VNN2_uc010kgb.3_Intron|VNN2_uc003qdv.3_Missense_Mutation_p.E344G	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	397					cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		CTGCCAGTACTCTCTTCTCCT	0.373000														83			6		0	0	0.004482	0	0
NUP85	79902	broad.mit.edu	37	17	73229030	73229030	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:73229030A>G	uc002jng.1	+	14	1741	c.1481A>G	c.(1480-1482)aAg>aGg	p.K494R	NUP85_uc010wrv.1_Missense_Mutation_p.K448R|NUP85_uc002jnh.1_Missense_Mutation_p.K97R	NM_024844	NP_079120	Q9BW27	NUP85_HUMAN	Homo sapiens nucleoporin 85kDa (NUP85), mRNA.	494					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic prometaphase|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	Nup107-160 complex|condensed chromosome kinetochore|cytosol|nuclear membrane|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			ATCCGTGCTAAGGATGCCGCC	0.577000														95			19		0	0	0.008871	0	0
RRAGC	64121	broad.mit.edu	37	1	39322586	39322586	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:39322586C>G	uc001ccq.2	-	1	428	c.406G>C	c.(406-408)Gga>Cga	p.G136R	RRAGC_uc010oim.1_Missense_Mutation_p.G102R|RRAGC_uc001ccr.2_Missense_Mutation_p.G58R	NM_022157	NP_071440	Q9HB90	RRAGC_HUMAN	Homo sapiens Ras-related GTP binding C (RRAGC), mRNA.	136					RNA splicing|apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				GCTCCTGTTCCCCTGAAGATC	0.408000														68			28		0	0	0.008361	0	0
FANCB	2187	broad.mit.edu	37	X	14871185	14871185	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:14871185A>G	uc004cwg.1	-	5	1570	c.1302T>C	c.(1300-1302)gaT>gaC	p.D434D	FANCB_uc004cwh.1_Silent_p.D434D	NM_001018113	NP_689846	Q8NB91	FANCB_HUMAN	Homo sapiens Fanconi anemia, complementation group B (FANCB), transcript variant 1, mRNA.	434					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					ACGTATTATCATCTTTTCCTT	0.289000								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia					65			5		0	0	0.001984	0	0
CDCA7	83879	broad.mit.edu	37	2	174230312	174230312	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:174230312C>G	uc002uic.1	+	6	1158	c.1027C>G	c.(1027-1029)Cgt>Ggt	p.R343G	CDCA7_uc002uid.1_Missense_Mutation_p.R264G|CDCA7_uc010zej.1_Missense_Mutation_p.R299G|CDCA7_uc010zek.1_Missense_Mutation_p.R222G	NM_031942	NP_114148	Q9BWT1	CDCA7_HUMAN	Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA.	264	Mediates transcriptional activity.				regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			GATATATAACCGTTCACTGGT	0.468000														42			4		0	0	0.000602	0	0
TLR5	7100	broad.mit.edu	37	1	223286155	223286155	+	Silent	SNP	C	T	T	rs148506161	byFrequency	TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:223286155C>T	uc021pjl.1	-	0	219	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TLR5_uc001hnv.2_Silent_p.Q73Q|TLR5_uc001hnw.2_Silent_p.Q73Q	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	73					MyD88-dependent toll-like receptor signaling pathway|cellular response to mechanical stimulus|inflammatory response|innate immune response|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GCTCCAGCAGCTGCAGCTGTT	0.532000														88			38		0	0	0.005524	0	0
NUCKS1	64710	broad.mit.edu	37	1	205688709	205688709	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:205688709A>G	uc001hdb.3	-	5	749	c.478T>C	c.(478-480)Tcc>Ccc	p.S160P		NM_022731	NP_073568	Q9H1E3	NUCKS_HUMAN	Homo sapiens nuclear casein kinase and cyclin-dependent kinase substrate 1 (NUCKS1), mRNA.	160	Lys-rich.					nucleus				endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			TCAGGTTTGGACTTCTTAACC	0.353000														145			14		0	0	0.008871	0	0
MAMDC4	158056	broad.mit.edu	37	9	139751991	139751991	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:139751991A>G	uc004cjs.3	+	17	2329	c.2279A>G	c.(2278-2280)cAt>cGt	p.H760R	MAMDC4_uc011mej.2_Missense_Mutation_p.H97R	NM_206920	NP_996803	Q6UXC1	AEGP_HUMAN	Homo sapiens MAM domain containing 4 (MAMDC4), mRNA.	839	MAM 4.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		GCCTCGGGCCATGCTGCCTGG	0.667000														42			5		0	0	0.000602	0	0
ZFHX4	79776	broad.mit.edu	37	8	77618832	77618832	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:77618832G>A	uc003yau.2	+	1	2896	c.2509G>A	c.(2509-2511)Gaa>Aaa	p.E837K	ZFHX4_uc003yat.1_Missense_Mutation_p.E837K|ZFHX4_uc003yaw.1_Missense_Mutation_p.E837K	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	837						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AATGAAGCTGGAAAACCCTGC	0.552000										HNSCC(33;0.089)				12			3		0	0	0.004672	0	0
VAV2	7410	broad.mit.edu	37	9	136654406	136654406	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:136654406G>A	uc004ces.3	-	13	1294	c.1248C>T	c.(1246-1248)tcC>tcT	p.S416S	VAV2_uc004cer.3_Silent_p.S411S|VAV2_uc004cet.1_5'UTR	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA.	416	PH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|metal ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GGTTGACTATGGACCGGACTT	0.617000														119			46		0	0	0.003610	0	0
TRIO	7204	broad.mit.edu	37	5	14271002	14271002	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:14271002C>T	uc003jff.3	+	1	232	c.226C>T	c.(226-228)Ctt>Ttt	p.L76F	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.L27F	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	76	CRAL-TRIO.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGTTGCATACCTTTCAGGTAA	0.343000														32			17		0	0	0.007413	0	0
PTPRB	5787	broad.mit.edu	37	12	70928401	70928401	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:70928401G>C	uc001swb.4	-	28	5611	c.5581C>G	c.(5581-5583)Cgc>Ggc	p.R1861G	BC031864_uc001svz.3_Intron|PTPRB_uc010sto.2_Missense_Mutation_p.R1771G|PTPRB_uc010stp.2_Missense_Mutation_p.R1771G|PTPRB_uc001swc.4_Missense_Mutation_p.R2079G|PTPRB_uc001swa.4_Missense_Mutation_p.R1991G	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1861	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGAAAGTGGCGGATGAGTCTG	0.493000														15			8		0	0	0.004482	0	0
DDX24	57062	broad.mit.edu	37	14	94526554	94526554	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:94526554T>C	uc001ycj.3	-	4	1902	c.1803A>G	c.(1801-1803)aaA>aaG	p.K601K	DDX24_uc010twq.2_Silent_p.K558K|DDX24_uc010twr.2_Silent_p.K351K	NM_020414	NP_065147	Q9GZR7	DDX24_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 24 (DDX24), mRNA.	601	Helicase C-terminal.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CAGAGAGGCGTTTGATGCAGG	0.502000														43			20		0	0	0.001523	0	0
CALCOCO2	10241	broad.mit.edu	37	17	46940288	46940288	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:46940288A>G	uc010wlr.2	+	13	1413	c.1334A>G	c.(1333-1335)aAt>aGt	p.N445S	CALCOCO2_uc010wlq.2_Missense_Mutation_p.N349S|CALCOCO2_uc010wls.2_Missense_Mutation_p.N379S|CALCOCO2_uc002iof.3_Missense_Mutation_p.N421S|CALCOCO2_uc010wlp.2_Missense_Mutation_p.N442S	NM_005831	NP_005822	Q13137	CACO2_HUMAN	Homo sapiens calcium binding and coiled-coil domain 2 (CALCOCO2), mRNA.	421	Interaction with MYO6.				response to interferon-gamma|viral reproduction	Golgi apparatus|cytoskeleton|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						CTTTGTTTCAATTGTCCAATT	0.463000														59			16		0	0	0.004007	0	0
PSG8	440533	broad.mit.edu	37	19	43269725	43269725	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:43269725G>A	uc002ouo.2	-	0	107	c.9C>T	c.(7-9)ctC>ctT	p.L3L	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Silent_p.L3L|PSG8_uc010ein.3_Silent_p.L3L|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	3						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGGCTGAGAGGAGCCCCATGG	0.602000														40			20		0	0	0.004656	0	0
TSN	7247	broad.mit.edu	37	2	122519010	122519010	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:122519010T>G	uc002tnl.3	+	3	518	c.283T>G	c.(283-285)Ttg>Gtg	p.L95V	TSN_uc002tnm.3_Missense_Mutation_p.L48V|TSN_uc010yze.2_Missense_Mutation_p.L95V|TSN_uc010flt.3_Intron	NM_004622	NP_004613	Q15631	TSN_HUMAN	Homo sapiens translin (TSN), mRNA.	95					DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				GAGGTTTGTGTTGCAGCGCTT	0.423000														120			29		0	0	0.002445	0	0
ABCA6	23460	broad.mit.edu	37	17	67079155	67079155	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:67079155C>T	uc002jhw.1	-	36	4651	c.4476_splice	c.e36-1	p.R1492_splice		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1492	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GCCAATGCATCTATGGGCAAG	0.358000														195			73		0	0	0.003610	0	0
NOS1	4842	broad.mit.edu	37	12	117660537	117660537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:117660537C>T	uc001twn.2	-	26	4771	c.4060G>A	c.(4060-4062)Gag>Aag	p.E1354K	NOS1_uc021ren.1_Missense_Mutation_p.E984K|NOS1_uc021reo.1_Missense_Mutation_p.E984K|NOS1_uc001twm.2_Missense_Mutation_p.E1320K	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1320					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	FMN binding|NADP binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.E1320K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTGTCTGGCTCCCGGGAGTAA	0.572000														97			50		0	0	0.003610	0	0
DCC	1630	broad.mit.edu	37	18	50278479	50278479	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:50278479C>T	uc002lfe.2	+	1	763	c.147C>T	c.(145-147)gcC>gcT	p.A49A	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	49	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.D48H(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTTCTGATGCCGTCACAATGC	0.483000														18			15		0	0	0.003163	0	0
EFEMP1	2202	broad.mit.edu	37	2	56145187	56145187	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:56145187C>T	uc002rzi.3	-	5	632	c.131_splice	c.e5-1	p.D44_splice	EFEMP1_uc002rzj.3_Splice_Site_p.D44_splice|EFEMP1_uc010ypc.2_5'UTR	NM_001039348	NP_001034438	Q12805	FBLN3_HUMAN	Homo sapiens EGF containing fibulin-like extracellular matrix protein 1 (EFEMP1), transcript variant 2, mRNA.	44	EGF-like 1; atypical.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCATCAATATCTGTGGTCAGT	0.398000														39			29		0	0	0.005443	0	0
AOX1	316	broad.mit.edu	37	2	201464442	201464442	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:201464442C>T	uc002uvx.3	+	4	510	c.409C>T	c.(409-411)Ctg>Ttg	p.L137L		NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	137					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|NAD binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AGAGCCCACTCTGGATCAGTT	0.438000														40			22		0	0	0.002780	0	0
GOLGA5	9950	broad.mit.edu	37	14	93276680	93276680	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:93276680T>C	uc001yaz.1	+	4	1256	c.1074T>C	c.(1072-1074)gaT>gaC	p.D358D		NM_005113	NP_005104	Q8TBA6	GOGA5_HUMAN	Homo sapiens golgin A5 (GOLGA5), mRNA.	358					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|Rab GTPase binding|protein homodimerization activity|protein tyrosine kinase activity			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		ATGAAGCGGATGCCACTCTGA	0.423000			T	RET	papillary thyroid									18			5		0	0	0.000602	0	0
FLNC	2318	broad.mit.edu	37	7	128494182	128494182	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:128494182C>T	uc003vnz.4	+	39	6848	c.6639C>T	c.(6637-6639)gtC>gtT	p.V2213V	FLNC_uc003voa.4_Silent_p.V2180V	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2213	Intradomain insert.				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						CCACCCAGGTCGGCGGGGACC	0.697000														24			32		0	0	0.002445	0	0
CYP3A4	1576	broad.mit.edu	37	7	99361548	99361548	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:99361548T>C	uc003urv.2	-	9	1063	c.956A>G	c.(955-957)tAt>tGt	p.Y319C	CYP3A4_uc003urw.2_Missense_Mutation_p.Y318C|CYP3A4_uc011kiz.2_Missense_Mutation_p.Y278C	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	319					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	GGCCAGTTCATACATAATGAA	0.468000														38			6		0	0	0.001168	0	0
COL1A2	1278	broad.mit.edu	37	7	94057679	94057679	+	Missense_Mutation	SNP	G	A	A	rs72659343		TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:94057679G>A	uc003ung.1	+	49	4072	c.3601G>A	c.(3601-3603)Gaa>Aaa	p.E1201K	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	1201	Fibrillar collagen NC1.				Rho protein signal transduction|axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.G1200S(1)	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)	CTCTACTGGCGAAACCTGTAT	0.433000										HNSCC(75;0.22)				163			48		0	0	0.003610	0	0
CGNL1	84952	broad.mit.edu	37	15	57838288	57838288	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:57838288G>A	uc010bfw.3	+	18	3817	c.3624G>A	c.(3622-3624)ttG>ttA	p.L1208L	CGNL1_uc002aeg.3_Silent_p.L1208L|CGNL1_uc021smw.1_5'Flank	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	1208						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)		GCTTGCGTTTGAAAGCCATGA	0.592000														14			6		0	0	0.004482	0	0
RC3H1	149041	broad.mit.edu	37	1	173962102	173962102	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:173962102A>G	uc010pmt.2	-	0	109	c.22T>C	c.(22-24)Tgg>Cgg	p.W8R	RC3H1_uc001gju.4_Missense_Mutation_p.W8R|RC3H1_uc010pms.2_Missense_Mutation_p.W8R|RC3H1_uc001gjv.3_Missense_Mutation_p.W8R	NM_172071	NP_742068	Q5TC82	RC3H1_HUMAN	Homo sapiens ring finger and CCCH-type domains 1 (RC3H1), mRNA.	8					cytoplasmic mRNA processing body assembly|negative regulation of B cell proliferation|negative regulation of T-helper cell differentiation|negative regulation of activated T cell proliferation|negative regulation of germinal center formation|nuclear-transcribed mRNA catabolic process|regulation of T cell receptor signaling pathway|regulation of mRNA stability	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						AAATCCGTCCATTGTGGAGCT	0.438000														89			12		0	0	0.001368	0	0
ADAD1	132612	broad.mit.edu	37	4	123317410	123317411	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:123317410_123317411GG>AA	uc003ieo.3	+	6	834_835	c.602_603GG>AA	c.(601-603)ggg>gAA	p.G201E	ADAD1_uc003iep.3_Missense_Mutation_p.G201E|ADAD1_uc003ieq.3_Missense_Mutation_p.G183E	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	201					RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTTCTAGAAGGGAGACATATTC	0.277000														45			7		0	0	0.004672	0	0
WDR83	84292	broad.mit.edu	37	19	12784099	12784099	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:12784099A>G	uc002mue.4	+	9	1112	c.767A>G	c.(766-768)gAc>gGc	p.D256G	WDR83_uc002muc.3_Non-coding_Transcript|WDR83_uc010dyw.3_Missense_Mutation_p.D256G	NM_001099737	NP_115708	Q9BRX9	WDR83_HUMAN	Homo sapiens WD repeat domain 83 (WDR83), transcript variant 1, mRNA.	256					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						TGTTCTGAGGACGGGAAGGTG	0.567000														40			13		0	0	0.004990	0	0
PHLDB1	23187	broad.mit.edu	37	11	118516207	118516207	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:118516207T>C	uc001ptr.2	+	16	3608	c.3255T>C	c.(3253-3255)ccT>ccC	p.P1085P	PHLDB1_uc001pts.3_Silent_p.P1085P|PHLDB1_uc001ptt.3_Silent_p.P1038P|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Silent_p.P900P|PHLDB1_uc001ptw.2_Silent_p.P440P|PHLDB1_uc009zai.2_Silent_p.P121P|PHLDB1_uc001ptx.2_Silent_p.P121P|PHLDB1_uc010ryi.1_Silent_p.P228P	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	1085										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GCTTCCCCCCTCTCATGCACC	0.652000														82			6		0	0	0.003080	0	0
GATA2	2624	broad.mit.edu	37	3	128199875	128199875	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:128199875G>A	uc003ekm.3	-	6	1865	c.1430C>T	c.(1429-1431)aCc>aTc	p.T477I	GATA2_uc003ekn.3_Missense_Mutation_p.T463I|GATA2_uc003eko.2_Missense_Mutation_p.T477I	NM_001145661	NP_116027	P23769	GATA2_HUMAN	Homo sapiens GATA binding protein 2 (GATA2), transcript variant 1, mRNA.	477					blood coagulation|negative regulation of Notch signaling pathway|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		GCCCATGGCGGTCACCATGCT	0.667000			Mis		AML(CML blast transformation)									28			10		0	0	0.000978	0	0
FAM86FP	653113	broad.mit.edu	37	12	8385082	8385082	+	RNA	SNP	C	T	T	rs75230552		TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:8385082C>T	uc010sgk.2	-	4		c.706G>A								Homo sapiens family with sequence similarity 86, member F, pseudogene (FAM86FP), non-coding RNA.																		CTTACAATCCCGTTAGAGTCG	0.428000														147			7		0	0	0.003163	0	0
HDLBP	3069	broad.mit.edu	37	2	242196123	242196123	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:242196123T>C	uc002waz.3	-	5	722	c.549A>G	c.(547-549)aaA>aaG	p.K183K	HDLBP_uc002wba.3_Silent_p.K183K|HDLBP_uc021vzg.1_Silent_p.K219K|HDLBP_uc010fzn.1_5'UTR	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	183	KH 1.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	RNA binding|lipid binding|protein binding	p.K183fs*42(2)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|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;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GGATCTGGATTTTGGTTGCAG	0.478000														89			19		0	0	0.008871	0	0
PIM1	5292	broad.mit.edu	37	6	37141788	37141788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:37141788C>T	uc003onk.3	+	5	1293	c.863C>T	c.(862-864)cCa>cTa	p.P288L	PIM1_uc011dtw.2_3'UTR	NM_002648	NP_002639	P11309	PIM1_HUMAN	Homo sapiens pim-1 oncogene (PIM1), transcript variant 1, mRNA.	379	Protein kinase.				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding	p.H287H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CAGAACCATCCATGGATGCAA	0.537000			T	BCL6	NHL									38			17		0	0	0.004990	0	0
CHD4	1108	broad.mit.edu	37	12	6702381	6702381	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:6702381A>G	uc001qpo.3	-	16	2692	c.2528T>C	c.(2527-2529)gTg>gCg	p.V843A	CHD4_uc001qpn.3_Missense_Mutation_p.V836A|CHD4_uc001qpp.3_Missense_Mutation_p.V840A	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	843	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						ATGGAATTTCACAGATGCCTC	0.468000														64			14		0	0	0.003163	0	0
LMBRD2	92255	broad.mit.edu	37	5	36122395	36122395	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:36122395A>T	uc003jkb.1	-	8	1522	c.1107T>A	c.(1105-1107)taT>taA	p.Y369*		NM_001007527	NP_001007528	Q68DH5	LMBD2_HUMAN	Homo sapiens LMBR1 domain containing 2 (LMBRD2), mRNA.	369						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATGTAGGATTATAAAAATATT	0.294000														30			17		0	0	0.004990	0	0
CNPY2	10330	broad.mit.edu	37	12	56704377	56704377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:56704377G>A	uc001sku.2	-	5	1057	c.508C>T	c.(508-510)Ctt>Ttt	p.L170F		NM_014255	NP_055070	Q9Y2B0	CNPY2_HUMAN	Homo sapiens canopy 2 homolog (zebrafish) (CNPY2), transcript variant 1, mRNA.	170	Saposin B-type.					endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						TGGTCACAAAGATCTGCAAAT	0.468000														42			21		0	0	0.002780	0	0
TTN	7273	broad.mit.edu	37	2	179549111	179549111	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:179549111C>T	uc021vsy.1	-	128	29161	c.28936G>A	c.(28936-28938)Gaa>Aaa	p.E9646K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6307K|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10573							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)			ACTTTTTCTTCCTGGGTAATT	0.388000														48			12		0	0	0.003163	0	0
ARID3C	138715	broad.mit.edu	37	9	34622434	34622434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:34622434C>T	uc011lon.2	-	4	958	c.958G>A	c.(958-960)Gag>Aag	p.E320K	DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank	NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	Homo sapiens AT rich interactive domain 3C (BRIGHT-like) (ARID3C), mRNA.	320	Pro-rich.|REKLES.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		GCTCTCTTCTCTGGGGGCTCC	0.612000														20			82		0	0	0.003610	0	0
TIMM44	10469	broad.mit.edu	37	19	7992167	7992167	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:7992167C>T	uc002miz.3	-	12	1436	c.1264G>A	c.(1264-1266)Gtg>Atg	p.V422M	CTXN1_uc002miy.4_5'Flank|CTXN1_uc021uob.1_5'Flank	NM_006351	NP_006342	O43615	TIM44_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA.	422					protein targeting to mitochondrion	mitochondrial inner membrane presequence translocase complex|mitochondrial matrix	ATP binding|P-P-bond-hydrolysis-driven protein transmembrane transporter activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						AGCGCCCACACGTACAGCATC	0.662000														47			13		0	0	0.003163	0	0
PLEKHA2	59339	broad.mit.edu	37	8	38808377	38808377	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:38808377G>A	uc003xmi.4	+	5	589	c.355G>A	c.(355-357)Ggt>Agt	p.G119S	PLEKHA2_uc011lce.2_Missense_Mutation_p.G69S	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 (PLEKHA2), mRNA.	119					positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			GGTTCCCAAAGGTGGGGGCCT	0.547000														24			11		0	0	0.000978	0	0
KRT2	3849	broad.mit.edu	37	12	53043751	53043752	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:53043751_53043752CC>TT	uc001sat.3	-	2	840_841	c.807_808GG>AA	c.(805-810)gaggat>gaAAat	p.D270N		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	270	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TTGATTTCATCCTCATACCTAT	0.431000														69			21		0	0	0.004672	0	0
CEACAM5	1048	broad.mit.edu	37	19	42223904	42223904	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:42223904G>A	uc002orl.3	+	6	1669	c.1548G>A	c.(1546-1548)aaG>aaA	p.K516K	CEACAM5_uc002orj.1_Silent_p.K515K	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	516	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGGAGGACAAGGATGCTGTGG	0.557000														95			23		0	0	0.003330	0	0
TAS2R14	50840	broad.mit.edu	37	12	11091267	11091267	+	Silent	SNP	T	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:11091267T>G	uc010shi.2	-	0	540	c.540A>C	c.(538-540)gtA>gtC	p.V180V	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_023922	NP_076411	Q9NYV8	T2R14_HUMAN	Homo sapiens taste receptor, type 2, member 14 (TAS2R14), mRNA.	180					detection of chemical stimulus involved in sensory perception of bitter taste		bitter taste receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	8						TGCTGGTTAATACAATAAGAC	0.378000														38			21		0	0	0.002299	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	T	T	rs121913377		TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome					47			93		0	0	0.003610	0	0
PI4KA	5297	broad.mit.edu	37	22	21068917	21068917	+	Splice_Site	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:21068917T>C	uc002zsz.4	-	46	5477	c.5216_splice	c.e46+1	p.S1739_splice	PI4KA_uc002zsy.4_Splice_Site_p.S549_splice	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	1739	Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity (By similarity).				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGCGCCCACCTCTGCATCGGG	0.587000														38			3		0	0	0.000602	0	0
ZNF714	148206	broad.mit.edu	37	19	21300877	21300877	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:21300877A>G	uc002npo.4	+	4	1785	c.1407A>G	c.(1405-1407)aaA>aaG	p.K469K	ZNF714_uc002npl.3_Silent_p.K315K|ZNF714_uc002npn.3_Non-coding_Transcript|ZNF714_uc010ecp.2_Non-coding_Transcript|ZNF714_uc021urp.1_5'Flank	NM_182515	NP_872321	Q96N38	ZN714_HUMAN	Homo sapiens zinc finger protein 714 (ZNF714), mRNA.	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						ACCTTACTAAACATAACATAA	0.363000														21			4		0	0	0.001168	0	0
ANKS1B	56899	broad.mit.edu	37	12	99194899	99194899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:99194899C>T	uc001tge.2	-	19	3488	c.3071G>A	c.(3070-3072)gGa>gAa	p.G1024E	ANKS1B_uc001tgf.2_Missense_Mutation_p.G540E|ANKS1B_uc001tgk.3_Missense_Mutation_p.G321E|ANKS1B_uc010svd.2_Missense_Mutation_p.G30E|ANKS1B_uc001tgd.2_Missense_Mutation_p.G190E|ANKS1B_uc009ztp.3_Missense_Mutation_p.G55E|ANKS1B_uc010svf.2_Missense_Mutation_p.G54E|ANKS1B_uc010sve.2_Missense_Mutation_p.G54E|ANKS1B_uc001tgh.4_Missense_Mutation_p.G30E|ANKS1B_uc009ztr.3_Missense_Mutation_p.G214E|ANKS1B_uc001tgj.3_Missense_Mutation_p.G190E|ANKS1B_uc001tgi.3_Missense_Mutation_p.G274E|ANKS1B_uc009zts.2_Missense_Mutation_p.G250E|ANKS1B_uc001tgg.4_Missense_Mutation_p.G122E|ANKS1B_uc010svg.2_Missense_Mutation_p.G159E	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	1024						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TCCCCAGTCTCCTGTCTGAAA	0.488000														16			10		0	0	0.001368	0	0
FUBP1	8880	broad.mit.edu	37	1	78433885	78433885	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:78433885G>A	uc001dii.3	-	2	303	c.214C>T	c.(214-216)Caa>Taa	p.Q72*	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Nonsense_Mutation_p.Q93*	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	72					transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCATCTGGTTGATCTGCAAAA	0.294000			"""F, N"""		oligodendroglioma									33			7		0	0	0.001984	0	0
PCDH18	54510	broad.mit.edu	37	4	138449932	138449932	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:138449932G>A	uc003ihe.4	-	1	2917	c.2530C>T	c.(2530-2532)Cag>Tag	p.Q844*	PCDH18_uc003ihf.4_Nonsense_Mutation_p.Q836*|PCDH18_uc011cgz.2_Nonsense_Mutation_p.Q55*|PCDH18_uc003ihg.4_Nonsense_Mutation_p.Q623*|PCDH18_uc011cha.2_Nonsense_Mutation_p.Q24*	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	844					brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Y843C(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GGTCTTGGCTGATATTGCCCC	0.408000														95			31		0	0	0.002445	0	0
LY6K	54742	broad.mit.edu	37	8	143782022	143782022	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:143782022G>A	uc011ljv.2	+	0	494	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	LY6K_uc011ljw.2_Missense_Mutation_p.R26Q|LY6K_uc011ljx.2_Missense_Mutation_p.R26Q	NM_017527	NP_059997	Q17RY6	LY6K_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus K (LY6K), transcript variant 1, mRNA.	26						anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GCGAGACAACGAGATCCAGAG	0.711000														4			6		0	0	0.001168	0	0
PROX2	283571	broad.mit.edu	37	14	75329421	75329421	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:75329421G>A	uc021rwo.1	-	0	1117	c.1117C>T	c.(1117-1119)Ccc>Tcc	p.P373S	PROX2_uc001xqp.2_Missense_Mutation_p.P373S|PROX2_uc001xqq.2_Intron	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	373					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		TCTGAGGAGGGGTGCCTCTGG	0.542000														25			19		0	0	0.006122	0	0
FBF1	85302	broad.mit.edu	37	17	73908360	73908360	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:73908360A>G	uc002jqc.3	-	27	3505	c.3231T>C	c.(3229-3231)cgT>cgC	p.R1077R	FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Silent_p.R1068R|MRPL38_uc002jpz.1_5'Flank|FBF1_uc002jqb.3_Non-coding_Transcript|FBF1_uc010dgr.2_Silent_p.R387R	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.	1077										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GGCTGCACCAACGGGTGGTGG	0.622000														16			3		0	0	0.004672	0	0
VPS13B	157680	broad.mit.edu	37	8	100588007	100588007	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:100588007A>G	uc003yiv.3	+	31	5257	c.5146A>G	c.(5146-5148)Act>Gct	p.T1716A	VPS13B_uc003yiw.3_Missense_Mutation_p.T1691A	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1716					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAATTTGCATACTGAGGTTAG	0.378000														58			6		0	0	0.001168	0	0
NCLN	56926	broad.mit.edu	37	19	3193415	3193415	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:3193415C>T	uc002lxi.3	+	2	663	c.509C>T	c.(508-510)tCt>tTt	p.S170F	NCLN_uc002lxh.1_Non-coding_Transcript	NM_020170	NP_064555	Q969V3	NCLN_HUMAN	Homo sapiens nicalin (NCLN), mRNA.	170					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)		GGCTCCGCCTCTGCTGCTGAA	0.682000														19			10		0	0	0.001855	0	0
WNT2	7472	broad.mit.edu	37	7	116918401	116918401	+	Silent	SNP	A	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:116918401A>C	uc003viz.3	-	4	1191	c.891T>G	c.(889-891)acT>acG	p.T297T	WNT2_uc003vja.3_Silent_p.T201T	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	297					Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	p.N295_D302del(2)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TGCCCCGGGAAGTCAGGTTGC	0.567000														15			14		0	0	0.001855	0	0
GLIPR1	11010	broad.mit.edu	37	12	75874778	75874778	+	Missense_Mutation	SNP	A	G	G	rs144436831	by1000genomes	TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:75874778A>G	uc001sxs.3	+	0	266	c.118A>G	c.(118-120)Atc>Gtc	p.I40V	GLIPR1_uc009zsb.1_Missense_Mutation_p.I40V	NM_006851	NP_006842	P48060	GLIP1_HUMAN	Homo sapiens GLI pathogenesis-related 1 (GLIPR1), mRNA.	40					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						CTGCGTTCGAATCCATAACAA	0.378000														43			14		0	0	0.003163	0	0
EPHA8	2046	broad.mit.edu	37	1	22927261	22927261	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:22927261G>A	uc001bfx.1	+	13	2621	c.2496G>A	c.(2494-2496)ctG>ctA	p.L832L		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	832	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGGAGGTGCTGGCCTATGGGG	0.677000														74			13		0	0	0.003163	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215371	140215371	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:140215371A>G	uc003lhq.2	+	0	1403	c.1403A>G	c.(1402-1404)aAc>aGc	p.N468S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.N468S	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	482	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGGAGAACAACCCGCCGGGC	0.672000														39			16		0	0	0.003163	0	0
NLRP1	22861	broad.mit.edu	37	17	5486148	5486148	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:5486148G>A	uc002gci.3	-	1	845	c.290C>T	c.(289-291)cCc>cTc	p.P97L	NLRP1_uc002gcg.1_Missense_Mutation_p.P97L|NLRP1_uc002gch.4_Missense_Mutation_p.P97L|NLRP1_uc002gck.3_Missense_Mutation_p.P97L|NLRP1_uc002gcj.3_Missense_Mutation_p.P97L|NLRP1_uc002gcl.3_Missense_Mutation_p.P97L|NLRP1_uc010clh.3_Missense_Mutation_p.P97L	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	97					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	NALP1 inflammasome complex|cytoplasm|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TGGGCTGTAGGGGAATGAGGG	0.607000														19			6		0	0	0.003080	0	0
MAP1A	4130	broad.mit.edu	37	15	43822055	43822055	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:43822055G>A	uc001zrt.3	+	4	8710	c.8243G>A	c.(8242-8244)gGg>gAg	p.G2748E		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2748						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCCCAGTGGGGGGAGAATCTT	0.552000														10			12		0	0	0.000978	0	0
MTHFD1	4522	broad.mit.edu	37	14	64884744	64884744	+	Splice_Site	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:64884744T>C	uc001xhb.3	+	7	1002	c.615_splice	c.e7+2	p.E205_splice	MTHFD1_uc010aqe.2_Splice_Site_p.E241_splice|MTHFD1_uc010aqf.3_Splice_Site_p.E261_splice	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	205	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GATGAGGAGGTAGGGTGTCCA	0.542000														58			8		0	0	0.004482	0	0
UCMA	221044	broad.mit.edu	37	10	13275752	13275752	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:13275752C>T	uc001imd.3	-	1	177	c.107G>A	c.(106-108)gGa>gAa	p.G36E		NM_145314	NP_660357	Q8WVF2	UCMA_HUMAN	Homo sapiens upper zone of growth plate and cartilage matrix associated (UCMA), mRNA.	36						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						CGCCTCTTCTCCCGCCATCTG	0.647000														46			14		0	0	0.003163	0	0
ADNP2	22850	broad.mit.edu	37	18	77894959	77894959	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:77894959C>T	uc002lnw.3	+	3	2118	c.1663C>T	c.(1663-1665)Cct>Tct	p.P555S		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	555					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GGGAGTTCTTCCTGTGGGCCA	0.557000														49			15		0	0	0.004007	0	0
GNB1L	54584	broad.mit.edu	37	22	19799823	19799823	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:19799823C>T	uc002zqf.1	-	4	639	c.402G>A	c.(400-402)ggG>ggA	p.G134G		NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1-like (GNB1L), mRNA.	134					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CGCTGCCCCTCCCTGGCACGG	0.652000														18			9		0	0	0.006214	0	0
MARCH6	10299	broad.mit.edu	37	5	10402676	10402676	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:10402676T>C	uc003jet.1	+	13	1337	c.1154T>C	c.(1153-1155)gTa>gCa	p.V385A	MARCH6_uc011cmu.1_Missense_Mutation_p.V337A|MARCH6_uc003jeu.1_Missense_Mutation_p.V83A|MARCH6_uc011cmv.1_Missense_Mutation_p.V280A	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	385					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GAAATTGGAGTATTCCCTCTC	0.343000														245			111		0	0	0.003610	0	0
YWHAQ	10971	broad.mit.edu	37	2	9727571	9727571	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:9727571A>C	uc002qzx.3	-	4	769	c.650T>G	c.(649-651)aTc>aGc	p.I217S		NM_006826	NP_006817	P27348	1433T_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide (YWHAQ), mRNA.	217					negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		CAACTGCATGATGAGGGTGCT	0.318000														67			28		0	0	0.002445	0	0
OR2M4	26245	broad.mit.edu	37	1	248402405	248402405	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:248402405A>G	uc010pzh.2	+	0	175	c.175A>G	c.(175-177)Atg>Gtg	p.M59V		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCACACCCCCATGTACTTCCT	0.458000														117			13		0	0	0.001855	0	0
RCAN2	10231	broad.mit.edu	37	2	174047583	174047583	+	Splice_Site	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:174047583A>G	uc002uhz.3	+	4	448	c.248_splice	c.e4-1	p.E83_splice	RCAN2_uc002uhx.3_Splice_Site_p.E83_splice|RCAN2_uc002uhy.3_Splice_Site_p.E83_splice|RCAN2_uc010zei.2_Splice_Site	NM_016653	NP_057737	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						TTAAAATAGAATATGCTTCTC	0.303000														42			14		0	0	0.004007	0	0
MYF6	4618	broad.mit.edu	37	12	81101648	81101648	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:81101648G>A	uc001szf.2	+	0	241	c.150G>A	c.(148-150)ccG>ccA	p.P50P		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	50					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	p.P50P(2)|p.P49P(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AAATGCCCCCGGAAGCGGGGA	0.612000														45			18		0	0	0.007413	0	0
MLL3	58508	broad.mit.edu	37	7	151851483	151851484	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:151851483_151851484GG>AA	uc003wla.3	-	46	12226_12227	c.12007_12008CC>TT	c.(12007-12009)ccc>TTc	p.P4003F	MLL3_uc003wkz.3_Missense_Mutation_p.P3121F|MLL3_uc003wkx.3_Missense_Mutation_p.P161F|MLL3_uc003wky.3_Missense_Mutation_p.P1567F	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4003					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AGAGGATGAGGGAACAAAACTG	0.505000			N		medulloblastoma									117			97		0	0	0.004672	0	0
AGPAT3	56894	broad.mit.edu	37	21	45379564	45379564	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr21:45379564T>C	uc002zdx.3	+	3	928	c.263T>C	c.(262-264)aTg>aCg	p.M88T	AGPAT3_uc002zdv.3_Missense_Mutation_p.M1T|AGPAT3_uc002zdw.3_Missense_Mutation_p.M1T|AGPAT3_uc002zdy.3_5'UTR	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 3 (AGPAT3), transcript variant 1, mRNA.	1					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)		AGCAGCGCCATGGGCCTGCTG	0.647000														90			28		0	0	0.001786	0	0
PLXNA4	91584	broad.mit.edu	37	7	132192851	132192852	+	Missense_Mutation	DNP	CT	GC	GC			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:132192851_132192852CT>GC	uc003vra.4	-	1	830_831	c.601_602AG>GC	c.(601-603)agc>GCc	p.S201A	PLXNA4_uc003vrc.2_Missense_Mutation_p.S201A|PLXNA4_uc003vrb.3_Missense_Mutation_p.S201A	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	201	Sema.					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						CAGTTTCCGGCTGGAGATGGTG	0.530000														207			14		0	0	0.004672	0	0
TTLL4	9654	broad.mit.edu	37	2	219603140	219603140	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:219603140C>T	uc002viy.3	+	2	1111	c.741C>T	c.(739-741)atC>atT	p.I247I	TTLL4_uc010zkl.1_Silent_p.I82I|TTLL4_uc010fvx.3_Silent_p.I247I	NM_014640	NP_055455	Q14679	TTLL4_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 4 (TTLL4), mRNA.	247					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		CACCCAAGATCCAGCCTGTCT	0.537000														72			37		0	0	0.006999	0	0
S1PR3	1903	broad.mit.edu	37	9	91616904	91616904	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:91616904C>T	uc022bjm.1	+	0	789	c.789C>T	c.(787-789)ttC>ttT	p.F263F	S1PR3_uc004aqe.3_Silent_p.F263F	NM_005226	NP_005217	Q99500	S1PR3_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 3 (S1PR3), mRNA.	263					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						TCATCCTCTTCCTCATTGATG	0.592000														28			13		0	0	0.002450	0	0
GPR116	221395	broad.mit.edu	37	6	46830682	46830682	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:46830682C>T	uc003oyo.3	-	14	2431	c.2142G>A	c.(2140-2142)gaG>gaA	p.E714E	GPR116_uc011dwj.1_Silent_p.E269E|GPR116_uc011dwk.1_Silent_p.E143E|GPR116_uc003oyp.3_Silent_p.E572E|GPR116_uc003oyq.3_Silent_p.E714E|GPR116_uc010jzi.1_Silent_p.E386E	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	714					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTCTCTTCTCCTCCCACTGGG	0.522000														116			49		0	0	0.003610	0	0
SMARCD3	6604	broad.mit.edu	37	7	150937310	150937310	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:150937310T>C	uc003wjs.3	-	9	1162	c.1061A>G	c.(1060-1062)aAg>aGg	p.K354R	SMARCD3_uc003wjt.3_Missense_Mutation_p.K341R|SMARCD3_uc003wju.3_Missense_Mutation_p.K341R	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 (SMARCD3), transcript variant 3, mRNA.	354					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCACGCCGTCTTCTTCTGGTC	0.617000														68			8		0	0	0.000978	0	0
PNPLA1	285848	broad.mit.edu	37	6	36270088	36270088	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:36270088G>A	uc010jwf.2	+	5	1226	c.1226G>A	c.(1225-1227)gGa>gAa	p.G409E	PNPLA1_uc010jwe.1_Missense_Mutation_p.G323E|PNPLA1_uc003olw.1_Missense_Mutation_p.G314E	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	409	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						CAACCGTCTGGATCACCAGCC	0.607000											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		52			20		0	0	0.001882	0	0
FAT3	120114	broad.mit.edu	37	11	92564897	92564897	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:92564897G>A	uc001pdj.4	+	12	9608	c.9591G>A	c.(9589-9591)caG>caA	p.Q3197Q		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3197	Cadherin 29.				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)				ACCGTGAGCAGCAGTCTTCGT	0.562000										TCGA Ovarian(4;0.039)				218			6		0	0	0.001984	0	0
MUC16	94025	broad.mit.edu	37	19	9075993	9075994	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:9075993_9075994GG>AA	uc002mkp.3	-	2	11656_11657	c.11452_11453CC>TT	c.(11452-11454)ccc>TTc	p.P3818F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3819	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						AGTGGTGGTGGGAAGCTGAGTG	0.510000														158			25		0	0	0.004672	0	0
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	5	139908142	139908142	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:139908142C>T	uc003lfs.2	+	28	5765	c.5611C>T	c.(5611-5613)Cgc>Tgc	p.R1871C	ANKHD1-EIF4EBP3_uc003lfr.3_Missense_Mutation_p.R1871C|ANKHD1-EIF4EBP3_uc011czh.1_Missense_Mutation_p.R610C|ANKHD1-EIF4EBP3_uc003lfw.3_Missense_Mutation_p.R509C|ANKHD1-EIF4EBP3_uc010jfl.3_Missense_Mutation_p.R306C|ANKHD1-EIF4EBP3_uc003lfx.1_Missense_Mutation_p.R8C	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1871						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGCATCCTCGCTTACCCAT	0.493000														19			23		0	0	0.002780	0	0
SIAE	54414	broad.mit.edu	37	11	124517266	124517267	+	Missense_Mutation	DNP	CA	AG	AG			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:124517266_124517267CA>AG	uc001qan.3	-	6	1133_1134	c.960_961TG>CT	c.(958-963)cttgtc>ctCTtc	p.V321F	SIAE_uc021qru.1_Missense_Mutation_p.V286F	NM_170601	NP_001186851	Q9HAT2	SIAE_HUMAN	Homo sapiens sialic acid acetylesterase (SIAE), transcript variant 1, mRNA.	321						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		CGTACCTGGACAAGTCCAAATG	0.505000														18			22		0	0	0.004672	0	0
GGA2	23062	broad.mit.edu	37	16	23505681	23505681	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:23505681C>G	uc002dlq.3	-	2	278	c.195G>C	c.(193-195)tgG>tgC	p.W65C	GGA2_uc010bxo.2_Non-coding_Transcript	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA.	65	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		GGGCCAGTAGCCAGGGCGCAT	0.512000														56			12		0	0	0.003163	0	0
ZNF451	26036	broad.mit.edu	37	6	56993563	56993563	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:56993563G>A	uc003pdm.1	+	4	573	c.349G>A	c.(349-351)Gaa>Aaa	p.E117K	ZNF451_uc003pdl.3_Missense_Mutation_p.E117K|ZNF451_uc003pdn.1_Missense_Mutation_p.E117K|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.E117K	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGGGTTACAAGAATTGGAATT	0.353000														60			18		0	0	0.003330	0	0
SSPO	23145	broad.mit.edu	37	7	149500562	149500562	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:149500562G>A	uc010lpk.3	+	54	7955	c.7955_splice	c.e54-1	p.G2652_splice		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2655	TIL 4.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CATACTCCCAGGATGCCGCTG	0.677000														26			26		0	0	0.007291	0	0
TRH	7200	broad.mit.edu	37	3	129695631	129695631	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:129695631G>A	uc003enc.3	+	2	862	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K		NM_007117	NP_009048	P20396	TRH_HUMAN	Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.	101					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						tgaagaagaggaagaggaaga	0.567000														26			16		0	0	0.003163	0	0
SPECC1	92521	broad.mit.edu	37	17	20013794	20013794	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:20013794T>A	uc002gwq.3	+	2	312	c.202T>A	c.(202-204)Tcg>Acg	p.S68T	SPECC1_uc010cqx.3_Missense_Mutation_p.S68T|SPECC1_uc002gwr.3_Missense_Mutation_p.S68T|SPECC1_uc002gws.3_Missense_Mutation_p.S68T	NM_001243439	NP_001230368	Q5M775	CYTSB_HUMAN	Homo sapiens sperm antigen with calponin homology and coiled-coil domains 1 (SPECC1), transcript variant 6, mRNA.	68						nucleus				breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		TACCGCTGCATCGGGGGTGGT	0.612000														50			11		0	0	0.008291	0	0
TCRBV21S1	0	broad.mit.edu	37	7	142223895	142223895	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:142223895C>T	uc003vyi.2	-	1	289	c.272G>A	c.(271-273)gGa>gAa	p.G91E	TRBV5-1_uc011krr.1_Intron|BV13S6J2.1_uc011krx.2_Intron|BV13S6J2.1_uc011ksa.2_Intron					SubName: Full=V_segment translation product; Flags: Fragment;																		GGAGTCTACTCCTTTGAGCCT	0.522000														252			24		0	0	0.004656	0	0
ASB6	140459	broad.mit.edu	37	9	132401685	132401685	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:132401685T>C	uc004byf.2	-	2	568	c.398A>G	c.(397-399)gAc>gGc	p.D133G	ASB6_uc004bye.1_Missense_Mutation_p.D58G|ASB6_uc010myx.2_Missense_Mutation_p.D133G|ASB6_uc004byg.2_Missense_Mutation_p.D133G|ASB6_uc011mbt.2_Missense_Mutation_p.D54G	NM_017873	NP_060343	Q9NWX5	ASB6_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 6 (ASB6), transcript variant 1, mRNA.	133					intracellular signal transduction	cytoplasm				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				ACTTACCCGGTCCCTCCGATT	0.622000														14			8		0	0	0.003080	0	0
DISP1	84976	broad.mit.edu	37	1	223156451	223156451	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:223156451G>A	uc001hnu.2	+	5	865	c.539_splice	c.e5+1	p.S180_splice		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	180					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TTGCCAAAAAGGTAAAGTAAT	0.323000														351			147		0	0	0.003610	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131801938	131801938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:131801938G>A	uc002tsa.1	+	11	2185	c.1666G>A	c.(1666-1668)Gac>Aac	p.D556N	ARHGEF4_uc010fmw.1_Intron|ARHGEF4_uc002tsb.1_Missense_Mutation_p.D556N|ARHGEF4_uc010fmx.1_Missense_Mutation_p.D496N|ARHGEF4_uc002tsc.1_Missense_Mutation_p.D99N	NM_015320	NP_056135	Q9NR80	ARHG4_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 4 (ARHGEF4), transcript variant 1, mRNA.	556	PH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	Rac guanyl-nucleotide exchange factor activity|protein domain specific binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GGAGGTGGTGGACCTGGAGGA	0.652000														15			4		0	0	0.000248	0	0
HBB	3043	broad.mit.edu	37	11	5247939	5247939	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:5247939C>T	uc001mae.1	-	1	233	c.183G>A	c.(181-183)gtG>gtA	p.V61V	CoTC_ribozyme_uc021qcu.1_5'Flank	NM_000518	NP_000509	P68871	HBB_HUMAN	Homo sapiens hemoglobin, beta (HBB), mRNA.	61			V -> A (in Collingwood; unstable).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CATGAGCCTTCACCTTAGGGT	0.557000									Sickle Cell Trait					30			32		0	0	0.001786	0	0
CAMTA2	23125	broad.mit.edu	37	17	4883061	4883061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:4883061G>A	uc010cku.2	-	8	2037	c.1625C>T	c.(1624-1626)cCa>cTa	p.P542L	CAMTA2_uc002gag.2_Missense_Mutation_p.P518L|CAMTA2_uc002gah.2_Missense_Mutation_p.P519L|CAMTA2_uc002gai.2_Missense_Mutation_p.P521L|CAMTA2_uc010ckv.1_Missense_Mutation_p.P166L|CAMTA2_uc010vsu.2_Missense_Mutation_p.P332L	NM_001171167	NP_001164638	O94983	CMTA2_HUMAN	Homo sapiens calmodulin binding transcription activator 2 (CAMTA2), transcript variant 4, mRNA.	519	IPT/TIG.				cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AGGGATGCTTGGAGCTTCGTC	0.562000														103			43		0	0	0.002222	0	0
ANO3	63982	broad.mit.edu	37	11	26655803	26655803	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:26655803C>T	uc001mqt.4	+	18	2071	c.1926C>T	c.(1924-1926)ttC>ttT	p.F642F	ANO3_uc010rdr.2_Silent_p.F626F|ANO3_uc010rds.2_Silent_p.F481F|ANO3_uc010rdt.2_Silent_p.F496F	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	642						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						TGAAGATGTTCCTCTTCCAGT	0.393000														13			9		0	0	0.008291	0	0
MAGEB6	158809	broad.mit.edu	37	X	26213011	26213011	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:26213011A>T	uc022buc.1	+	0	1048	c.1048A>T	c.(1048-1050)Agt>Tgt	p.S350C	MAGEB6_uc004dbr.3_Missense_Mutation_p.S350C	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	350	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GGTGTGCAACAGTGATCCTCC	0.493000														37			24		0	0	0.001786	0	0
TRPC6	7225	broad.mit.edu	37	11	101353691	101353691	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:101353691G>A	uc001pgk.4	-	4	1924	c.1499C>T	c.(1498-1500)tCc>tTc	p.S500F	TRPC6_uc009ywy.3_Missense_Mutation_p.S384F|TRPC6_uc009ywz.1_Missense_Mutation_p.S445F	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	500					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding	p.I499L(1)		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)		TATTACCCAGGATATAATGAG	0.393000														22			32		0	0	0.002836	0	0
DAPK1	1612	broad.mit.edu	37	9	90322084	90322084	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:90322084C>T	uc004apc.3	+	25	4236	c.4098C>T	c.(4096-4098)acC>acT	p.T1366T	DAPK1_uc004apd.3_Silent_p.T1366T|DAPK1_uc011ltg.2_Silent_p.T1300T|DAPK1_uc011lth.2_Silent_p.T1103T|DAPK1_uc004apg.2_Silent_p.T343T	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	1366	Death.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GGGAATGGACCACCTACCCTG	0.602000									Chronic Lymphocytic Leukemia, Familial Clustering of					17			14		0	0	0.001855	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64466462	64466462	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:64466462G>A	uc003jtp.3	-	23	4040	c.3226C>T	c.(3226-3228)Ccc>Tcc	p.P1076S	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	1076					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		TTAGAAATGGGGGTACTGTCA	0.493000														14			9		0	0	0.008291	0	0
GRIK2	2898	broad.mit.edu	37	6	102372565	102372565	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:102372565G>T	uc003pqp.4	+	11	2131	c.1838G>T	c.(1837-1839)tGg>tTg	p.W613L	GRIK2_uc010kcw.3_Missense_Mutation_p.W613L|GRIK2_uc003pqo.4_Missense_Mutation_p.W613L|GRIK2_uc021zdk.1_Intron|GRIK2_uc021zdl.1_Intron	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	613					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	AATAGTTTCTGGTTTGGAGTT	0.463000														33			16		4.7546e-09	8.29943e-09	0.004007	1	0
HEATR3	55027	broad.mit.edu	37	16	50138886	50138886	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:50138886C>T	uc002efw.3	+	14	2119	c.1957C>T	c.(1957-1959)Cag>Tag	p.Q653*	HEATR3_uc002efx.3_Nonsense_Mutation_p.Q567*|HEATR3_uc021thw.1_Nonsense_Mutation_p.Q195*|AF086132_uc002efy.3_5'Flank	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA.	653							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TAGCACAGATCAGCTGTGTGT	0.303000														68			32		0	0	0.002836	0	0
ATG2A	23130	broad.mit.edu	37	11	64684506	64684506	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:64684506G>A	uc001obx.3	-	0	217	c.102C>T	c.(100-102)agC>agT	p.S34S	ATG2A_uc010rnt.1_Silent_p.S34S	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	34							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GCTGGTCCAGGCTGAGGTGCT	0.582000														24			18		0	0	0.001523	0	0
RYR2	6262	broad.mit.edu	37	1	237580394	237580394	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:237580394C>T	uc001hyl.1	+	10	939	c.819C>T	c.(817-819)tcC>tcT	p.S273S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	273	MIR 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.L272L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGCACGTTCCCTTTGGAGAC	0.418000														35			35		0	0	0.005524	0	0
PHTF2	57157	broad.mit.edu	37	7	77558603	77558603	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:77558603C>T	uc003ugs.4	+	10	1423	c.1297C>T	c.(1297-1299)Cca>Tca	p.P433S	PHTF2_uc003ugp.3_Missense_Mutation_p.P395S|PHTF2_uc010ldv.3_Missense_Mutation_p.P395S|PHTF2_uc003ugq.4_Missense_Mutation_p.P395S|PHTF2_uc003ugt.4_Missense_Mutation_p.P399S|PHTF2_uc003ugu.4_Missense_Mutation_p.P395S|PHTF2_uc022agp.1_Missense_Mutation_p.P433S|PHTF2_uc003ugv.3_Missense_Mutation_p.P258S|PHTF2_uc010ldw.2_Missense_Mutation_p.P258S	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 1, mRNA.	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TCAGATTAATCCATGTGTGAA	0.368000														65			11		0	0	0.000978	0	0
ZNF34	80778	broad.mit.edu	37	8	145999711	145999711	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:145999711G>A	uc003zdy.4	-	5	725	c.623C>T	c.(622-624)tCa>tTa	p.S208L	ZNF34_uc010mgb.3_Missense_Mutation_p.S105L|ZNF34_uc003zdx.4_Missense_Mutation_p.S187L	NM_030580	NP_085057	Q8IZ26	ZNF34_HUMAN	Homo sapiens zinc finger protein 34 (ZNF34), mRNA.	208					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(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		GTTGAGATATGATCTCTGTTC	0.408000														20			10		0	0	0.008291	0	0
KIF13A	63971	broad.mit.edu	37	6	17773793	17773793	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:17773793C>T	uc003ncg.4	-	35	4400	c.4240G>A	c.(4240-4242)Gac>Aac	p.D1414N	KIF13A_uc003ncf.3_Missense_Mutation_p.D1401N|KIF13A_uc003nch.4_Missense_Mutation_p.D1414N|KIF13A_uc003nci.4_Missense_Mutation_p.D1401N|KIF13A_uc003nce.2_5'UTR	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1414					Golgi to plasma membrane protein transport|cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCAGACATGTCCAACTGGTTC	0.403000														85			35		0	0	0.004878	0	0
FSCN3	29999	broad.mit.edu	37	7	127240445	127240445	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:127240445G>A	uc003vmd.2	+	5	1708	c.1489G>A	c.(1489-1491)Gaa>Aaa	p.E497K	FSCN3_uc011koh.1_3'UTR|FSCN3_uc010llc.2_3'UTR	NM_020369	NP_065102	Q9NQT6	FSCN3_HUMAN	Homo sapiens fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus) (FSCN3), mRNA.	497						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						GTGTATCTGGGAATTTTAGGT	0.547000														91			14		0	0	0.006122	0	0
IPO7	10527	broad.mit.edu	37	11	9459719	9459719	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:9459719T>C	uc001mho.3	+	21	2724	c.2582T>C	c.(2581-2583)aTt>aCt	p.I861T		NM_006391	NP_006382	O95373	IPO7_HUMAN	Homo sapiens importin 7 (IPO7), mRNA.	861					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	Ran GTPase binding|protein transporter activity|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TCTGGACAGATTTTGCCGGCT	0.388000														144			58		0	0	0.003610	0	0
ANKRD13C	81573	broad.mit.edu	37	1	70781180	70781180	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:70781180A>G	uc001dex.4	-	3	973	c.647T>C	c.(646-648)tTa>tCa	p.L216S	ANKRD13C_uc009wbk.3_Missense_Mutation_p.L181S	NM_030816	NP_110443	Q8N6S4	AN13C_HUMAN	Homo sapiens ankyrin repeat domain 13C (ANKRD13C), mRNA.	216					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						CAGGGCTTTTAATAATCGAGG	0.289000														92			17		0	0	0.008871	0	0
PRB1	5542	broad.mit.edu	37	12	11506602	11506602	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:11506602T>C	uc001qzw.1	-	2	472	c.435A>G	c.(433-435)ggA>ggG	p.G145G	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	145	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).|Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGACTTGTCTCCTTGTGGGG	0.607000														225			5		0	0	0.000602	0	0
PLXNA2	5362	broad.mit.edu	37	1	208218052	208218052	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:208218052C>T	uc001hgz.3	-	19	4433	c.3675G>A	c.(3673-3675)tcG>tcA	p.S1225S		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1225	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGACACTCACCGAGCCAGGCG	0.597000														29			9		0	0	0.006214	0	0
ALG3	10195	broad.mit.edu	37	3	183961764	183961764	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:183961764G>A	uc003fne.2	-	5	778	c.747C>T	c.(745-747)ttC>ttT	p.F249F	ALG3_uc011brc.1_Silent_p.F214F|ALG3_uc011brd.1_Silent_p.F193F|ALG3_uc011bre.1_Silent_p.F201F	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.	249					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTCCAGCAGGAAGGGCAGCC	0.597000														34			20		0	0	0.003330	0	0
COL12A1	1303	broad.mit.edu	37	6	75861946	75861946	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:75861946C>T	uc021zbv.1	-	17	3771	c.3736G>A	c.(3736-3738)Gat>Aat	p.D1246N	COL12A1_uc021zbw.1_Missense_Mutation_p.D82N|COL12A1_uc003phs.3_Missense_Mutation_p.D1246N|COL12A1_uc003pht.3_Missense_Mutation_p.D82N	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1246	VWFA 3.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.D1246N(2)		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						GTTCTGGGATCCCCACTATAC	0.443000														29			13		0	0	0.001368	0	0
PLCD3	113026	broad.mit.edu	37	17	43194047	43194047	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:43194047C>T	uc002iib.3	-	7	1479	c.1365G>A	c.(1363-1365)gtG>gtA	p.V455V		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	Homo sapiens phospholipase C, delta 3 (PLCD3), mRNA.	455	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	GCGCCTGTGTCACCAGCATGT	0.672000														57			21		0	0	0.001523	0	0
SLC5A3	6526	broad.mit.edu	37	21	35469584	35469584	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr21:35469584T>A	uc021wir.1	+	0	2087	c.2087T>A	c.(2086-2088)gTa>gAa	p.V696E	SLC5A3_uc002yto.3_Missense_Mutation_p.V696E|MRPS6_uc002ytp.2_Intron	NM_006933	NP_008864	P53794	SC5A3_HUMAN	Homo sapiens solute carrier family 5 (sodium/myo-inositol cotransporter), member 3 (SLC5A3), mRNA.	696						integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CAAGTTAAAGTAATACTAAAT	0.378000														411			64		0	0	0.003610	0	0
DYRK1A	1859	broad.mit.edu	37	21	38877845	38877845	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr21:38877845A>T	uc002ywk.3	+	8	1575	c.1499A>T	c.(1498-1500)gAg>gTg	p.E500V	DYRK1A_uc002ywi.3_Missense_Mutation_p.E500V|DYRK1A_uc002ywj.3_Missense_Mutation_p.E491V|DYRK1A_uc002ywm.3_Missense_Mutation_p.E500V|DYRK1A_uc011aei.2_Missense_Mutation_p.E261V	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA.	500					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CCCGCCATGGAGCAGTCTCAG	0.448000														136			17		0	0	0.002299	0	0
PHLDB1	23187	broad.mit.edu	37	11	118502728	118502728	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:118502728T>C	uc001ptr.2	+	8	2552	c.2199T>C	c.(2197-2199)cgT>cgC	p.R733R	PHLDB1_uc001pts.3_Silent_p.R733R|PHLDB1_uc001ptt.3_Silent_p.R733R|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Silent_p.R533R|PHLDB1_uc001ptw.2_Silent_p.R135R|PHLDB1_uc009zai.2_5'UTR|PHLDB1_uc001ptx.2_5'UTR	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	733										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCAAGGTCCGTGTGAAGGAGC	0.617000														29			8		0	0	0.004482	0	0
DEFB127	140850	broad.mit.edu	37	20	139425	139425	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:139425A>G	uc002wcy.1	+	1	60	c.60A>G	c.(58-60)caA>caG	p.Q20Q		NM_139074	NP_620713	Q9H1M4	DB127_HUMAN	Homo sapiens defensin, beta 127 (DEFB127), mRNA.	20					defense response to bacterium|innate immune response	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)	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)			TAACCGAACAACTTAAGAAGT	0.413000														38			6		0	0	0.003080	0	0
EMCN	51705	broad.mit.edu	37	4	101368726	101368726	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:101368726C>T	uc003hvr.3	-	4	558	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	EMCN_uc011cel.2_Intron|EMCN_uc011cem.2_Missense_Mutation_p.E127K	NM_016242	NP_057326	Q9ULC0	MUCEN_HUMAN	Homo sapiens endomucin (EMCN), transcript variant 1, mRNA.	127	Thr-rich.					extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		CTCTGAGTTTCAGCTTTAGAA	0.289000														30			6		0	0	0.001168	0	0
ATP4A	495	broad.mit.edu	37	19	36051443	36051443	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:36051443C>T	uc002oal.1	-	5	638	c.609G>A	c.(607-609)gaG>gaA	p.E203E	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	203					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CACCTTTCATCTCCACCAGGT	0.617000														27			16		0	0	0.004007	0	0
TAF2	6873	broad.mit.edu	37	8	120807857	120807857	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:120807857A>G	uc003you.3	-	8	1376	c.1106T>C	c.(1105-1107)gTg>gCg	p.V369A		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	369					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCCCTTCAGCACCCATTCATC	0.348000														72			7		0	0	0.001984	0	0
SH2B3	10019	broad.mit.edu	37	12	111885901	111885901	+	Missense_Mutation	SNP	G	C	C	rs79819500	byFrequency	TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:111885901G>C	uc001tsf.3	+	6	1553	c.1526G>C	c.(1525-1527)cGg>cCg	p.R509P	SH2B3_uc001tse.3_Missense_Mutation_p.R508P|SH2B3_uc010syf.2_Missense_Mutation_p.R508P|SH2B3_uc010syg.2_Missense_Mutation_p.R306P	NM_005475	NP_005466	Q9UQQ2	SH2B3_HUMAN	Homo sapiens SH2B adaptor protein 3 (SH2B3), mRNA.	508					blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						GGCTGTCCCCGGGGGCTCAGC	0.622000														70			18		0	0	0.007413	0	0
ARHGAP30	257106	broad.mit.edu	37	1	161018416	161018416	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:161018416C>G	uc001fxl.3	-	11	2741	c.2395G>C	c.(2395-2397)Gac>Cac	p.D799H	USF1_uc001fxj.3_5'Flank|USF1_uc001fxi.3_5'Flank|ARHGAP30_uc001fxk.3_Intron|ARHGAP30_uc001fxm.3_Missense_Mutation_p.D645H|ARHGAP30_uc009wtx.3_Missense_Mutation_p.D472H	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	799	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)			TGTCCTTTGTCCTCATCCTCT	0.522000														273			11		0	0	0.000978	0	0
ATP8B2	57198	broad.mit.edu	37	1	154317948	154317948	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:154317948A>G	uc001fex.3	+	22	2720	c.2720A>G	c.(2719-2721)tAt>tGt	p.Y907C		NM_020452	NP_065185	P98198	AT8B2_HUMAN	Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA.	893					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.Y907C(2)	IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTTCTTTGCTATTTCTTCTAC	0.498000											OREG0013835	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		388			52		0	0	0.003610	0	0
DYRK1A	1859	broad.mit.edu	37	21	38877829	38877829	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr21:38877829A>G	uc002ywk.3	+	8	1559	c.1483A>G	c.(1483-1485)Aca>Gca	p.T495A	DYRK1A_uc002ywi.3_Missense_Mutation_p.T495A|DYRK1A_uc002ywj.3_Missense_Mutation_p.T486A|DYRK1A_uc002ywm.3_Missense_Mutation_p.T495A|DYRK1A_uc011aei.2_Missense_Mutation_p.T256A	NM_001396	NP_001387	Q13627	DYR1A_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A (DYRK1A), transcript variant 1, mRNA.	495					nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TAGTGTATCTACAAGCCCCGC	0.463000														140			18		0	0	0.001882	0	0
OBSCN	84033	broad.mit.edu	37	1	228399500	228399500	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:228399500T>C	uc009xez.1	+	1	60	c.16T>C	c.(16-18)Ttc>Ctc	p.F6L	OBSCN_uc001hsn.3_Missense_Mutation_p.F6L|AK056556_uc001hsm.1_Intron	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	M band|Z disc|cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCAGCCACAGTTCAGCGGGGC	0.677000														21			6		0	0	0.003080	0	0
ZNF746	155061	broad.mit.edu	37	7	149171731	149171731	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:149171731T>C	uc010lpi.2	-	6	1953	c.1682A>G	c.(1681-1683)cAc>cGc	p.H561R	ZNF746_uc003wfw.2_Missense_Mutation_p.H560R	NM_001163474	NP_001156946	Q6NUN9	ZN746_HUMAN	Homo sapiens zinc finger protein 746 (ZNF746), transcript variant 1, mRNA.	560					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding	p.T561M(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CACGCCCGTGTGCGTTCGGTA	0.657000														64			5		0	0	0.001168	0	0
TNXB	7148	broad.mit.edu	37	6	32049968	32049968	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:32049968C>T	uc003nzl.2	-	8	3783	c.3581G>A	c.(3580-3582)aGg>aAg	p.R1194K		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1281	Fibronectin type-III 4.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ATCCCTGTCCCTGTACTGGAC	0.577000														178			109		0	0	0.003610	0	0
BANP	54971	broad.mit.edu	37	16	88052124	88052124	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:88052124T>C	uc002fkr.3	+	6	943	c.722T>C	c.(721-723)aTc>aCc	p.I241T	BANP_uc010vov.2_Missense_Mutation_p.I216T|BANP_uc002fkq.3_Missense_Mutation_p.I210T|BANP_uc002fks.4_Missense_Mutation_p.I210T|BANP_uc002fkp.3_Missense_Mutation_p.I210T|BANP_uc010vow.2_Missense_Mutation_p.I249T|BANP_uc021tml.1_Missense_Mutation_p.I249T|BANP_uc002fko.1_Missense_Mutation_p.I146T	NM_001173543	NP_001167014	Q8N9N5	BANP_HUMAN	Homo sapiens BTG3 associated nuclear protein (BANP), transcript variant 7, mRNA.	241	BEN.|Interaction with CUX1 and HDAC1 (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		ATGCTGCACATCAGCACCAAC	0.632000														17			4		0	0	0.000248	0	0
PCDH11Y	83259	broad.mit.edu	37	Y	4925127	4925127	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrY:4925127C>T	uc004fqo.3	+	0	997	c.263C>T	c.(262-264)tCc>tTc	p.S88F	PCDH11Y_uc010nwg.1_Missense_Mutation_p.S77F|PCDH11Y_uc004fql.1_Missense_Mutation_p.S77F|PCDH11Y_uc004fqm.1_Missense_Mutation_p.S77F|PCDH11Y_uc004fqn.1_Missense_Mutation_p.S88F	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	88	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCAAACAAGTCCTTGACAACT	0.453000														21			34		0	0	0.002445	0	0
SRP54	6729	broad.mit.edu	37	14	35478024	35478024	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:35478024C>T	uc001wso.3	+	6	823	c.472C>T	c.(472-474)Cca>Tca	p.P158S	SRP54_uc010tpp.2_Missense_Mutation_p.P109S|SRP54_uc010tpq.2_Missense_Mutation_p.P94S	NM_003136	NP_003127	P61011	SRP54_HUMAN	Homo sapiens signal recognition particle 54kDa (SRP54), transcript variant 1, mRNA.	158	G-domain.				GTP catabolic process|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation|response to drug	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|GDP binding|GTP binding|drug binding|endoplasmic reticulum signal peptide binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		AGCAAGAATTCCATTTTATGG	0.313000														26			14		0	0	0.004007	0	0
FER1L6	654463	broad.mit.edu	37	8	125115442	125115442	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:125115442C>T	uc003yqw.3	+	38	5387	c.5181C>T	c.(5179-5181)gcC>gcT	p.A1727A	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1727						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTGCCAAAGCCTGTGATCTTG	0.458000														221			77		0	0	0.003610	0	0
CELF4	56853	broad.mit.edu	37	18	34850819	34850819	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:34850819C>T	uc002lae.2	-	7	1407	c.1011G>A	c.(1009-1011)ggG>ggA	p.G337G	CELF4_uc021uix.1_Silent_p.G335G|CELF4_uc021uiy.1_Silent_p.G336G|CELF4_uc002lag.2_Silent_p.G327G|CELF4_uc002laf.2_Silent_p.G332G|CELF4_uc002lai.2_Silent_p.G322G|CELF4_uc002lah.2_Silent_p.G62G	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	337					embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						AGCCATTCACCCCAATGGGGG	0.632000														18			9		0	0	0.004482	0	0
BAZ2A	11176	broad.mit.edu	37	12	57005902	57005902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:57005902C>T	uc001slq.1	-	5	1464	c.1270G>A	c.(1270-1272)Gca>Aca	p.A424T	BAZ2A_uc001slp.1_Missense_Mutation_p.A422T|BAZ2A_uc009zow.1_Missense_Mutation_p.A392T	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	424					DNA methylation|chromatin silencing at rDNA|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|RNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GGTGAGGTTGCTGGATGTAGC	0.537000														42			6		0	0	0.001168	0	0
FAM208B	54906	broad.mit.edu	37	10	5788707	5788707	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:5788707G>A	uc001iij.3	+	14	3948	c.3323G>A	c.(3322-3324)aGg>aAg	p.R1108K	FAM208B_uc001iik.3_Intron	NM_017782	NP_060252	Q5VWN6	CJ018_HUMAN	Homo sapiens family with sequence similarity 208, member B (FAM208B), mRNA.	1108																	CAAGGCCTGAGGGACATTCCC	0.468000														45			63		0	0	0.003610	0	0
ABCC12	94160	broad.mit.edu	37	16	48151211	48151211	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:48151211C>T	uc002efc.1	-	11	2092	c.1746G>A	c.(1744-1746)caG>caA	p.Q582Q	ABCC12_uc002eey.1_Non-coding_Transcript|ABCC12_uc002eez.1_Non-coding_Transcript|ABCC12_uc002efa.1_Non-coding_Transcript|ABCC12_uc002efb.1_Non-coding_Transcript|ABCC12_uc002efd.1_Intron	NM_033226	NP_150229	Q96J65	MRP9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 12 (ABCC12), mRNA.	582	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TCAGGTCCTTCTGGAGGCCAC	0.587000														29			6		0	0	0.003080	0	0
PDE4DIP	9659	broad.mit.edu	37	1	144874773	144874773	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:144874773A>C	uc021ouh.1	-	29	5137	c.4835T>G	c.(4834-4836)tTc>tGc	p.F1612C	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.F1612C|PDE4DIP_uc001elx.4_Missense_Mutation_p.F1568C|PDE4DIP_uc001elv.4_Missense_Mutation_p.F619C	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1612	NBPF.				cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATCAGACAGGAAAGAGGTGCT	0.552000			T	PDGFRB	MPD									334			33		0	0	0.003755	0	0
INO80E	283899	broad.mit.edu	37	16	30008161	30008161	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:30008161A>G	uc002dvg.1	+	2	286	c.185A>G	c.(184-186)aAc>aGc	p.N62S	BOLA2_uc010bzb.1_Intron|INO80E_uc002dvh.1_Non-coding_Transcript|HIRIP3_uc002dve.3_5'Flank|HIRIP3_uc002dvf.3_5'Flank|HIRIP3_uc021tgg.1_5'Flank	NM_173618	NP_775889	Q8NBZ0	IN80E_HUMAN	Homo sapiens INO80 complex subunit E (INO80E), mRNA.	62					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex				endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	6						CAGTACGAGAACGTGGATGAA	0.542000														62			18		0	0	0.003954	0	0
STAU1	6780	broad.mit.edu	37	20	47740945	47740945	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:47740945A>G	uc002xud.3	-	6	1200	c.789T>C	c.(787-789)ccT>ccC	p.P263P	STAU1_uc002xua.3_Silent_p.P182P|STAU1_uc002xub.3_Silent_p.P188P|STAU1_uc002xuc.3_Silent_p.P182P|STAU1_uc002xue.3_Silent_p.P182P|STAU1_uc002xuf.3_Silent_p.P188P|STAU1_uc002xug.3_Silent_p.P263P	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	263						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TTTTGATTCTAGGCTTTACTC	0.423000														224			39		0	0	0.002222	0	0
CDC20B	166979	broad.mit.edu	37	5	54429240	54429240	+	Splice_Site	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:54429240A>G	uc003jpo.2	-	6	874	c.697_splice	c.e6+1	p.Y233_splice	CDC20B_uc003jpn.2_Splice_Site_p.Y233_splice|CDC20B_uc010ivu.2_Splice_Site_p.Y233_splice|CDC20B_uc010ivv.2_Splice_Site_p.Y233_splice	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	233										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GATAACTTACAGTAGTCATTT	0.343000														49			16		0	0	0.003163	0	0
RBM23	55147	broad.mit.edu	37	14	23374168	23374168	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:23374168A>G	uc001whg.3	-	8	979	c.780T>C	c.(778-780)ggT>ggC	p.G260G	RBM23_uc001whh.3_Silent_p.G244G|RBM23_uc001whi.3_Silent_p.G226G|RBM23_uc010tne.2_Silent_p.G90G|RBM23_uc001whj.3_Silent_p.G10G|RBM23_uc001whk.1_Silent_p.G260G	NM_001077351	NP_001070819	Q86U06	RBM23_HUMAN	Homo sapiens RNA binding motif protein 23 (RBM23), transcript variant 1, mRNA.	260					mRNA processing	nucleus	RNA binding|nucleotide binding			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		GCATTGGTCCACCATTGCCCT	0.527000														147			26		0	0	0.002096	0	0
EGFR	1956	broad.mit.edu	37	7	55224486	55224486	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:55224486C>A	uc003tqk.3	+	9	1414	c.1168C>A	c.(1168-1170)Cag>Aag	p.Q390K	EGFR_uc003tqh.3_Missense_Mutation_p.Q390K|EGFR_uc003tqi.3_Missense_Mutation_p.Q390K|EGFR_uc003tqj.3_Missense_Mutation_p.Q390K|EGFR_uc022adm.1_Missense_Mutation_p.Q390K|EGFR_uc010kzg.2_Missense_Mutation_p.Q345K|EGFR_uc022adn.1_Missense_Mutation_p.Q345K|EGFR_uc011kco.2_Missense_Mutation_p.Q337K|EGFR_uc011kcp.1_Non-coding_Transcript|EGFR_uc011kcq.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	390					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 MAP kinase activity|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 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 UV-A|response to stress	Golgi membrane|Shc-EGFR complex|basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|integral to membrane|nuclear membrane	ATP binding|MAP/ERK kinase kinase activity|actin filament binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|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)	TCTGGATCCACAGGAACTGGA	0.373000		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				49			9		0.000978159	0.00168681	0.000978	1	0
PPIL1	51645	broad.mit.edu	37	6	36823785	36823785	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:36823785T>C	uc003omu.2	-	3	557	c.305A>G	c.(304-306)aAt>aGt	p.N102S		NM_016059	NP_057143	Q9Y3C6	PPIL1_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 1 (PPIL1), mRNA.	102	Cyclosporin A binding.|PPIase cyclophilin-type.				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			lung(1)|ovary(1)	2						TGGCCCCGCATTGGCCATTGC	0.552000														28			12		0	0	0.000978	0	0
EGFLAM	133584	broad.mit.edu	37	5	38406302	38406302	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:38406302G>A	uc003jlc.2	+	6	1133	c.787G>A	c.(787-789)Gga>Aga	p.G263R	EGFLAM_uc003jlb.2_Missense_Mutation_p.G263R|EGFLAM_uc003jle.2_Missense_Mutation_p.G29R|EGFLAM_uc003jlf.2_Intron	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	263						cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GGATGATGAAGGATTTGAAGA	0.478000														58			11		0	0	0.001368	0	0
LPGAT1	9926	broad.mit.edu	37	1	211956806	211956806	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:211956806C>T	uc001hiu.3	-	4	1305	c.492G>A	c.(490-492)aaG>aaA	p.K164K	LPGAT1_uc001hiv.3_Silent_p.K164K	NM_014873	NP_055688	Q92604	LGAT1_HUMAN	Homo sapiens lysophosphatidylglycerol acyltransferase 1 (LPGAT1), mRNA.	164					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.00773)|all cancers(67;0.0765)|Epithelial(68;0.114)		CTAAGTGCTTCTTGAGAAGCA	0.403000														95			21		0	0	0.002299	0	0
FAM188B	84182	broad.mit.edu	37	7	30898925	30898925	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:30898925C>T	uc003tbt.3	+	12	1807	c.1730C>T	c.(1729-1731)tCc>tTc	p.S577F	FAM188B_uc010kwe.3_Missense_Mutation_p.S548F|FAM188B_uc011kac.1_5'UTR|FAM188B_uc003tbu.3_Missense_Mutation_p.S97F	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	577										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCCATCCTGTCCAGGTCTACA	0.567000														57			25		0	0	0.008361	0	0
OR51G1	79324	broad.mit.edu	37	11	4945494	4945494	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:4945494G>A	uc010qyr.2	-	0	76	c.76C>T	c.(76-78)Cat>Tat	p.H26Y		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L25L(1)		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)		ATCCAGCCATGGAGACCTTCT	0.463000														15			18		0	0	0.008871	0	0
LCE2C	353140	broad.mit.edu	37	1	152648729	152648729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:152648729C>T	uc021ozc.1	+	0	238	c.238C>T	c.(238-240)Ctc>Ttc	p.L80F	LCE2C_uc001fah.3_Missense_Mutation_p.L80F	NM_178429	NP_848516	Q5TA81	LCE2C_HUMAN	Homo sapiens late cornified envelope 2C (LCE2C), mRNA.	80	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGGCCCCGTCTCTTCCACCG	0.687000														66			14		0	0	0.002450	0	0
C6	729	broad.mit.edu	37	5	41142943	41142943	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:41142943C>T	uc003jmk.2	-	17	2999	c.2789G>A	c.(2788-2790)gGa>gAa	p.G930E	C6_uc003jml.1_Missense_Mutation_p.G930E	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	930	C5b-binding domain.|Complement control factor I module 2.|Kazal-like 2.				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)				CAAACACTTTCCAGGATGCAG	0.413000														70			31		0	0	0.003755	0	0
BCL7B	9275	broad.mit.edu	37	7	72957930	72957930	+	Missense_Mutation	SNP	A	C	C	rs138796659		TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:72957930A>C	uc003tyf.2	-	2	370	c.213T>G	c.(211-213)aaT>aaG	p.N71K	BCL7B_uc003tye.2_Non-coding_Transcript|BCL7B_uc003tyg.2_Missense_Mutation_p.N71K	NM_001707	NP_001698	Q9BQE9	BCL7B_HUMAN	Homo sapiens B-cell CLL/lymphoma 7B (BCL7B), transcript variant 1, mRNA.	71							actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	9		Lung NSC(55;0.0659)|all_lung(88;0.152)				AAGGAAAGCCATTAGGTTCTC	0.443000														424			21		0	0	0.002780	0	0
KRT85	3891	broad.mit.edu	37	12	52757039	52757039	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:52757039G>A	uc001sag.3	-	4	1062	c.942C>T	c.(940-942)taC>taT	p.Y314Y		NM_002283	NP_002274	P78386	KRT85_HUMAN	Homo sapiens keratin 85 (KRT85), mRNA.	314	Coil 2.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTTGCTACGGTACCAGGACT	0.547000														19			11		0	0	0.001855	0	0
SYK	6850	broad.mit.edu	37	9	93637033	93637034	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:93637033_93637034GG>AA	uc004aqz.3	+	8	1288_1289	c.1083_1084GG>AA	c.(1081-1086)aaggag>aaAAag	p.E362K	SYK_uc004ara.3_Missense_Mutation_p.E339K|SYK_uc004arb.3_Missense_Mutation_p.E339K|SYK_uc004arc.3_Missense_Mutation_p.E362K|SYK_uc011ltt.2_Non-coding_Transcript|SYK_uc011ltr.2_Non-coding_Transcript|SYK_uc011lts.2_Non-coding_Transcript	NM_003177	NP_003168	P43405	KSYK_HUMAN	Homo sapiens spleen tyrosine kinase (SYK), transcript variant 1, mRNA.	362	Linker.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	T cell receptor complex|cytosol	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TCAGGCCCAAGGAGGTTTACCT	0.525000			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""									103			65		0	0	0.004672	0	0
RB1	5925	broad.mit.edu	37	13	48934160	48934160	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:48934160A>G	uc001vcb.3	+	6	781	c.615A>G	c.(613-615)gtA>gtG	p.V205V	RB1_uc010acs.1_Non-coding_Transcript|RB1_uc010act.1_5'UTR	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	205					G1 phase of mitotic cell cycle|Ras protein signal transduction|S phase of mitotic cell cycle|androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|sister chromatid biorientation	PML body|Rb-E2F complex|SWI/SNF complex|chromatin	DNA binding|androgen receptor binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)|p.E204fs*10(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGGGGAAGTATTACAAATGG	0.318000		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)				46			8		0	0	0.003080	0	0
LPPR3	79948	broad.mit.edu	37	19	814959	814959	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:814959A>G	uc002lpw.1	-	4	590	c.526T>C	c.(526-528)Tcc>Ccc	p.S176P	LPPR3_uc021ulz.1_5'Flank|LPPR3_uc002lpx.1_Missense_Mutation_p.S176P|LPPR3_uc002lpy.1_5'UTR	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 3 (LPPR3), mRNA.	176						integral to membrane	phosphatidate phosphatase activity										ACCTCGCAGGACGTGCCCAGG	0.632000														18			17		0	0	0.004007	0	0
ZFC3H1	196441	broad.mit.edu	37	12	72029312	72029312	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:72029312T>C	uc001swo.2	-	9	2508	c.2149A>G	c.(2149-2151)Agt>Ggt	p.S717G		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	717					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCAGATTCACTATCATCTGAA	0.358000														78			9		0	0	0.004482	0	0
ESYT2	57488	broad.mit.edu	37	7	158528224	158528224	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:158528224G>A	uc003wob.1	-	19	2622	c.2556C>T	c.(2554-2556)ttC>ttT	p.F852F	ESYT2_uc003wny.1_Non-coding_Transcript|ESYT2_uc003wnz.1_Silent_p.F291F|ESYT2_uc003woa.1_Silent_p.F429F	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	Homo sapiens extended synaptotagmin-like protein 2 (ESYT2), mRNA.	880	C2 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CTTTGGACAGGAAGCCGCCAC	0.473000														153			141		0	0	0.003610	0	0
KIAA0564	23078	broad.mit.edu	37	13	42144660	42144660	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:42144660G>A	uc001uyj.3	-	43	5623	c.5553C>T	c.(5551-5553)gaC>gaT	p.D1851D		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1851	VWFA.					extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TTACTTGAGGGTCTCTTGTGA	0.403000														79			22		0	0	0.001882	0	0
C19orf26	255057	broad.mit.edu	37	19	1230911	1230911	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:1230911T>C	uc002lrm.2	-	8	1600	c.1325A>G	c.(1324-1326)aAg>aGg	p.K442R		NM_152769	NP_689982	Q8N350	DOS_HUMAN	Homo sapiens chromosome 19 open reading frame 26 (C19orf26), mRNA.	267						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)		CTCTCCCTGCTTCCCTCCTCT	0.701000										HNSCC(14;0.022)				49			5		0	0	0.001984	0	0
USP7	7874	broad.mit.edu	37	16	9009193	9009193	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:9009193G>A	uc002czl.2	-	9	1195	c.996C>T	c.(994-996)atC>atT	p.I332I	USP7_uc010uyk.1_Silent_p.I233I|USP7_uc010uyj.1_Silent_p.I233I|USP7_uc002czk.2_Silent_p.I316I|USP7_uc010uyl.1_Non-coding_Transcript	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	332					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	PML body|cytoplasm	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTTTACACTGGATATAGGACT	0.303000														67			28		0	0	0.002445	0	0
SRCAP	10847	broad.mit.edu	37	16	30727652	30727652	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:30727652T>C	uc002dze.1	+	17	3054	c.2669T>C	c.(2668-2670)gTc>gCc	p.V890A	SRCAP_uc021tgn.1_Missense_Mutation_p.V890A|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.V747A	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	890					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TTCATGAGCGTCATCAACATT	0.478000														166			46		0	0	0.003214	0	0
PPP2R5A	5525	broad.mit.edu	37	1	212519229	212519229	+	Nonsense_Mutation	SNP	G	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:212519229G>T	uc001hjb.3	+	4	1232	c.658G>T	c.(658-660)Gga>Tga	p.G220*	PPP2R5A_uc010ptd.2_Nonsense_Mutation_p.G163*	NM_006243	NP_006234	Q15172	2A5A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', alpha (PPP2R5A), transcript variant 1, mRNA.	220					negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		GAAATTTCTTGGATTAAGAGC	0.353000														87			16		2.31682e-05	4.01736e-05	0.003163	1	0
VSTM1	284415	broad.mit.edu	37	19	54544314	54544314	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:54544314C>T	uc002qcw.4	-	8	788	c.612G>A	c.(610-612)gtG>gtA	p.V204V	VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_Silent_p.V116V|VSTM1_uc002qcx.4_Silent_p.V173V|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Silent_p.V84V	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA.	204						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		CAGCATAGGTCACTCCTTGGG	0.502000														15			4		0	0	0.000602	0	0
HEPH	9843	broad.mit.edu	37	X	65409642	65409642	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:65409642C>T	uc011moz.2	+	5	1224	c.1087C>T	c.(1087-1089)Cat>Tat	p.H363Y	HEPH_uc004dwn.3_Missense_Mutation_p.H312Y|HEPH_uc004dwo.3_Missense_Mutation_p.H42Y|HEPH_uc010nkr.3_Missense_Mutation_p.H312Y|HEPH_uc011mpa.2_Missense_Mutation_p.H312Y	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	309	Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGCATTTTTCCATGGACAGAT	0.498000														7			15		0	0	0.002450	0	0
OR52B4	143496	broad.mit.edu	37	11	4388943	4388943	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:4388943G>A	uc010qye.2	-	0	674	c.583C>T	c.(583-585)Cga>Tga	p.R195*		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R195*(2)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTTTATTCGAATGTCATTA	0.338000														16			19		0	0	0.007413	0	0
TRHDE	29953	broad.mit.edu	37	12	72969158	72969158	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:72969158G>C	uc001sxa.3	+	10	2150	c.2120G>C	c.(2119-2121)cGg>cCg	p.R707P		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	707					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.R707W(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CAATTAATCCGGAATCATGAG	0.338000														66			10		0	0	0.008291	0	0
SRPR	6734	broad.mit.edu	37	11	126136122	126136122	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:126136122A>G	uc001qdh.3	-	6	1070	c.892T>C	c.(892-894)Tct>Cct	p.S298P	SRPR_uc010sbm.2_Missense_Mutation_p.S270P|FOXRED1_uc001qdi.3_5'Flank|FOXRED1_uc010sbn.2_5'Flank|FOXRED1_uc010sbq.2_5'Flank|FOXRED1_uc010sbo.2_5'Flank|FOXRED1_uc010sbp.2_5'Flank|FOXRED1_uc010sbr.2_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA.	298					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TCGTCATCAGAGCTGCTGCAG	0.522000														76			16		0	0	0.008871	0	0
FAM160B2	64760	broad.mit.edu	37	8	21959688	21959688	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:21959688A>G	uc011kyx.2	+	14	1905	c.1854A>G	c.(1852-1854)ccA>ccG	p.P618P	FAM160B2_uc011kyy.2_Non-coding_Transcript	NM_022749	NP_073586	Q86V87	F16B2_HUMAN	Homo sapiens family with sequence similarity 160, member B2 (FAM160B2), mRNA.	618										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						TCCTACAGCCATACAGCCTGA	0.602000														37			9		0	0	0.006214	0	0
TTN	7273	broad.mit.edu	37	2	179569002	179569003	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:179569002_179569003CC>TT	uc021vsy.1	-	102	26587_26588	c.26362_26363GG>AA	c.(26362-26364)ggt>AAt	p.G8788N	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.G5449N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9715	Ig-like 70.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P8788P(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTATGTCTACCTTGGGGTTTA	0.416000														96			41		0	0	0.004672	0	0
ADCK2	90956	broad.mit.edu	37	7	140379030	140379031	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:140379030_140379031CC>TT	uc003vvy.1	+	2	1334_1335	c.1156_1157CC>TT	c.(1156-1158)ccc>TTc	p.P386F	ADCK2_uc003vvz.3_Missense_Mutation_p.P386F	NM_052853	NP_443085	Q7Z695	ADCK2_HUMAN	Homo sapiens aarF domain containing kinase 2 (ADCK2), mRNA.	386	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CGTCAAGTTCCCCACCCCTCTG	0.495000														78			123		0	0	0.004672	0	0
COL6A3	1293	broad.mit.edu	37	2	238290040	238290040	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:238290040A>G	uc002vwl.2	-	4	1700	c.1415T>C	c.(1414-1416)aTc>aCc	p.I472T	COL6A3_uc002vwo.2_Missense_Mutation_p.I266T|COL6A3_uc010znj.1_Missense_Mutation_p.I65T|COL6A3_uc002vwq.3_Missense_Mutation_p.I266T|COL6A3_uc002vwr.3_Missense_Mutation_p.I65T|COL6A3_uc010znk.1_Missense_Mutation_p.I472T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	472	Nonhelical region.|VWFA 3.				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)		CAGCCTCTGGATGACTTTAGC	0.473000														44			10		0	0	0.008291	0	0
SRRM2	23524	broad.mit.edu	37	16	2816259	2816259	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:2816259A>G	uc002crk.3	+	10	6279	c.5730A>G	c.(5728-5730)agA>agG	p.R1910R	SRRM2_uc002crj.1_Silent_p.R1814R|SRRM2_uc002crl.1_Silent_p.R1910R|SRRM2_uc010bsu.1_Silent_p.R1814R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1910	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus 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						CTCGACGAAGATCCCGGTCAA	0.582000														48			14		0	0	0.004007	0	0
CYP1A1	1543	broad.mit.edu	37	15	75015004	75015004	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:75015004G>A	uc002ayp.4	-	1	557	c.435C>T	c.(433-435)ttC>ttT	p.F145F	CYP1A1_uc010bjy.3_Silent_p.F145F|CYP1A1_uc010bju.3_Intron|CYP1A1_uc010bjv.3_Non-coding_Transcript|CYP1A1_uc010bjw.3_Non-coding_Transcript|CYP1A1_uc010bjx.3_Intron|CYP1A1_uc002ayq.4_Silent_p.F145F|CYP1A1_uc010bjz.1_Intron|CYP1A1_uc021sqk.1_Silent_p.F145F	NM_000499	NP_000490	P04798	CP1A1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 1 (CYP1A1), mRNA.	145					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)	AGGCAATGGAGAAACTTTTCA	0.582000									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia					95			46		0	0	0.003610	0	0
CXXC5	51523	broad.mit.edu	37	5	139060446	139060446	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:139060446C>T	uc010jfg.1	+	1	628	c.338C>T	c.(337-339)tCc>tTc	p.S113F	CXXC5_uc003let.2_Missense_Mutation_p.S113F	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	Homo sapiens CXXC finger protein 5 (CXXC5), mRNA.	113					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCTGCCTCCCTGTTGGCC	0.617000														43			50		0	0	0.003610	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48873912	48873912	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:48873912G>A	uc002rwp.2	+	7	2935	c.2821G>A	c.(2821-2823)Gaa>Aaa	p.E941K	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.E941K|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.E894K|STON1-GTF2A1L_uc002rws.2_Missense_Mutation_p.E237K|STON1-GTF2A1L_uc010yom.2_Missense_Mutation_p.E203K	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	894					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTGTCATCAGGAAAGTTCTCA	0.413000														50			27		0	0	0.005443	0	0
TSTA3	7264	broad.mit.edu	37	8	144695448	144695448	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:144695448C>T	uc003yza.2	-	9	864	c.828G>A	c.(826-828)tcG>tcA	p.S276S	TSTA3_uc003yzb.2_Silent_p.S276S	NM_003313	NP_003304	Q13630	FCL_HUMAN	Homo sapiens tissue specific transplantation antigen P35B (TSTA3), mRNA.	276					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|coenzyme binding|electron carrier activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	ACTGCCCATCCGACTTGGTTG	0.577000														74			14		0	0	0.004007	0	0
MAP3K9	4293	broad.mit.edu	37	14	71199522	71199522	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:71199522T>C	uc001xmm.3	-	10	2564	c.2564A>G	c.(2563-2565)gAt>gGt	p.D855G	MAP3K9_uc010ttk.2_Missense_Mutation_p.D583G|MAP3K9_uc001xmk.3_Missense_Mutation_p.D588G|MAP3K9_uc001xml.3_Missense_Mutation_p.D869G	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	855					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)		GACAATTTCATCGCTGTCGGA	0.602000														34			7		0	0	0.001984	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166836860	166836860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:166836860C>T	uc003qvd.1	-	18	1815	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	RPS6KA2_uc011ego.1_Missense_Mutation_p.E454K|RPS6KA2_uc010kkl.1_Missense_Mutation_p.E454K|RPS6KA2_uc003qvb.1_Missense_Mutation_p.E543K|RPS6KA2_uc003qvc.1_Missense_Mutation_p.E551K|RPS6KA2_uc010kkk.1_5'UTR	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.	543	Protein kinase 2.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CTCCCCGACTCATCCCTGTAC	0.597000														14			10		0	0	0.001368	0	0
KRT71	112802	broad.mit.edu	37	12	52940249	52940249	+	Silent	SNP	C	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:52940249C>A	uc001sao.3	-	6	1216	c.1146G>T	c.(1144-1146)cgG>cgT	p.R382R		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	382	Coil 2.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CGTTGTCTCCCCGCTGCTCAG	0.612000														31			10		2.17888e-05	3.78234e-05	0.006214	1	0
GLB1L2	89944	broad.mit.edu	37	11	134212800	134212800	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:134212800A>G	uc001qhp.3	+	1	427	c.239A>G	c.(238-240)gAc>gGc	p.D80G		NM_138342	NP_612351	Q8IW92	GLBL2_HUMAN	Homo sapiens galactosidase, beta 1-like 2 (GLB1L2), mRNA.	80					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		TACTGGAGGGACCGCCTGCTG	0.617000														42			8		0	0	0.006214	0	0
DDX11L11	0	broad.mit.edu	37	12	92119	92119	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:92119T>C	uc010sdi.1	-	1	219	c.191A>G	c.(190-192)cAc>cGc	p.H64R	DDX11L11_uc010sdj.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 11;																		CGCCAGGCAGTGGTGCAGCTG	0.592000														21			3		0	0	0.004672	0	0
IL22RA1	58985	broad.mit.edu	37	1	24454758	24454758	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:24454758C>T	uc001biq.2	-	4	746	c.543G>A	c.(541-543)ggG>ggA	p.G181G	IL22RA1_uc010oeg.1_Silent_p.G73G|IL22RA1_uc009vrb.2_Silent_p.G45G|IL22RA1_uc010oeh.2_Silent_p.G181G	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	181	Fibronectin type-III 2.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CTCTCTGCTTCCCTCCAAGGT	0.532000														30			34		0	0	0.004878	0	0
CDH17	1015	broad.mit.edu	37	8	95182692	95182692	+	Silent	SNP	A	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:95182692A>T	uc003ygh.2	-	8	1124	c.999T>A	c.(997-999)atT>atA	p.I333I	CDH17_uc011lgo.1_Intron|CDH17_uc011lgp.1_Silent_p.I333I	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	333	Cadherin 3.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GATTATCATTAATATCTTTAA	0.393000														138			17		0	0	0.004007	0	0
INPP5K	51763	broad.mit.edu	37	17	1412538	1412538	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:1412538T>C	uc002fsr.3	-	4	877	c.488A>G	c.(487-489)cAc>cGc	p.H163R	INPP5K_uc002fss.3_Missense_Mutation_p.H87R|INPP5K_uc002fsq.3_Missense_Mutation_p.H87R|INPP5K_uc010cjr.3_Missense_Mutation_p.H87R|INPP5K_uc010vql.2_Missense_Mutation_p.H71R|INPP5K_uc010vqm.2_Intron|INPP5K_uc010cjs.2_3'UTR	NM_016532	NP_570122	Q9BT40	INP5K_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase K (INPP5K), transcript variant 1, mRNA.	163	Catalytic (Potential).				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						CCGGTCAAAGTGCTCCAGCCG	0.557000														49			11		0	0	0.008291	0	0
CD300A	11314	broad.mit.edu	37	17	72469917	72469917	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:72469917G>A	uc002jkv.3	+	1	604	c.283G>A	c.(283-285)Gag>Aag	p.E95K	CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	95	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GAATCTCACAGAGGAGGATGC	0.562000														53			22		0	0	0.002299	0	0
ZNF733P	643955	broad.mit.edu	37	7	62753192	62753192	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:62753192G>A	uc011kdj.2	-	2	244	c.176C>T	c.(175-177)tCc>tTc	p.S59F						Homo sapiens zinc finger protein 479 pseudogene (LOC643955), non-coding RNA.																		GGTGAAATGGGAATGCGTAAC	0.358000														145			275		0	0	0.003610	0	0
TM9SF2	9375	broad.mit.edu	37	13	100169902	100169902	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:100169902C>T	uc001voj.1	+	1	339	c.206C>T	c.(205-207)tCa>tTa	p.S69L	TM9SF2_uc010afz.1_Missense_Mutation_p.S69L	NM_004800	NP_004791	Q99805	TM9S2_HUMAN	Homo sapiens transmembrane 9 superfamily member 2 (TM9SF2), mRNA.	69					transport	endosome membrane|integral to plasma membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)	17	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.218)					AGACTTGATTCAGTGGAATCA	0.323000														24			26		0	0	0.006320	0	0
CPA5	93979	broad.mit.edu	37	7	130002796	130002796	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:130002796C>T	uc010lmd.1	+	9	1328	c.708C>T	c.(706-708)ctC>ctT	p.L236L	CPA5_uc003vps.2_Silent_p.L236L|CPA5_uc003vpt.2_Silent_p.L236L|CPA5_uc010lme.1_Silent_p.L236L|CPA5_uc003vpu.1_Silent_p.L236L	NM_001127441	NP_525124	Q8WXQ8	CBPA5_HUMAN	Homo sapiens carboxypeptidase A5 (CPA5), transcript variant 2, mRNA.	236					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					TCATAGAGCTCGTCACAAACC	0.512000														109			10		0	0	0.008291	0	0
NOL7	51406	broad.mit.edu	37	6	13616734	13616734	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:13616734A>G	uc003naz.3	+	2	399	c.367A>G	c.(367-369)Acc>Gcc	p.T123A		NM_016167	NP_057251	Q9UMY1	NOL7_HUMAN	Homo sapiens nucleolar protein 7, 27kDa (NOL7), mRNA.	123						mitochondrion|nucleolus				breast(1)|large_intestine(3)|lung(1)	5	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.135)	Epithelial(50;0.176)			GGAGAAGTTAACCACAGCTTC	0.308000														111			13		0	0	0.004990	0	0
PRPF8	10594	broad.mit.edu	37	17	1581892	1581892	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:1581892A>G	uc002fte.3	-	12	1888	c.1774T>C	c.(1774-1776)Tat>Cat	p.Y592H		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	592						U5 snRNP|catalytic step 2 spliceosome|nuclear speck	RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTGTATCGATACATGCCCGTC	0.463000														95			51		0	0	0.003610	0	0
WHSC1L1	54904	broad.mit.edu	37	8	38133817	38133817	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:38133817A>G	uc003xli.3	-	22	4587	c.4069T>C	c.(4069-4071)Tat>Cat	p.Y1357H	WHSC1L1_uc011lbm.2_Missense_Mutation_p.Y1346H|WHSC1L1_uc010lwe.3_Missense_Mutation_p.Y1308H|WHSC1L1_uc003xlh.3_Missense_Mutation_p.Y136H	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	1357					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AGCTTACCATATGGTGGCTGA	0.443000			T	NUP98	AML									14			9		0	0	0.000978	0	0
COL7A1	1294	broad.mit.edu	37	3	48629225	48629225	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:48629225G>A	uc003ctz.2	-	10	1389	c.1388C>T	c.(1387-1389)cCc>cTc	p.P463L		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	463	Fibronectin type-III 3.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACATCAGAGGGCAGTACCAC	0.632000														12			11		0	0	0.008291	0	0
FDXR	2232	broad.mit.edu	37	17	72862251	72862251	+	Splice_Site	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:72862251A>G	uc010wrl.2	-	5	723	c.636_splice	c.e5+1	p.E212_splice	FDXR_uc010wri.2_Splice_Site_p.E117_splice|FDXR_uc010wrj.2_Splice_Site_p.E167_splice|FDXR_uc002jlw.3_Splice_Site|FDXR_uc002jlx.3_Splice_Site_p.E169_splice|FDXR_uc002jly.3_Splice_Site_p.E169_splice|FDXR_uc010wrk.2_Splice_Site_p.E200_splice|FDXR_uc010wrm.2_Splice_Site_p.E129_splice|FDXR_uc002jlz.3_Splice_Site_p.E161_splice|FDXR_uc002jmb.3_Splice_Site	NM_024417	NP_077728	P22570	ADRO_HUMAN	Homo sapiens ferredoxin reductase (FDXR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	169					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					CCCCATACTCACCTCCTGGTT	0.657000														43			7		0	0	0.001984	0	0
RGL4	266747	broad.mit.edu	37	22	24036084	24036084	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:24036084A>G	uc002zxo.3	+	3	2092	c.835A>G	c.(835-837)Acc>Gcc	p.T279A	GUSBP11_uc002zxh.4_5'Flank|GUSBP11_uc002zxi.4_5'Flank|GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Missense_Mutation_p.T279A|RGL4_uc002zxp.1_Missense_Mutation_p.T143A|RGL4_uc002zxq.3_Missense_Mutation_p.T143A			Q8IZJ4	RGDSR_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA.	279	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CTGCATCACCACCTCCTGCCT	0.622000														38			25		0	0	0.003954	0	0
TMEM108	66000	broad.mit.edu	37	3	133098621	133098621	+	Silent	SNP	C	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:133098621C>G	uc003epi.3	+	3	336	c.66C>G	c.(64-66)acC>acG	p.T22T	TMEM108_uc003eph.3_Silent_p.T22T|TMEM108_uc003epj.1_Silent_p.T22T|TMEM108_uc003epk.3_Intron	NM_001136469	NP_076432	Q6UXF1	TM108_HUMAN	Homo sapiens transmembrane protein 108 (TMEM108), transcript variant 2, mRNA.	22						integral to membrane				endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGGCACTGACCGAAGCGCTGG	0.552000														275			39		0	0	0.003610	0	0
COL5A1	1289	broad.mit.edu	37	9	137693829	137693830	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:137693829_137693830CC>TT	uc004cfe.3	+	37	3364_3365	c.2982_2983CC>TT	c.(2980-2985)ggcccc>ggTTcc	p.P995S		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	995	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	p.G997fs*17(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCCTCCAGGCCCCCCCGGCGT	0.653000														53			14		0	0	0.004672	0	0
POTEG	404785	broad.mit.edu	37	14	19553825	19553825	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:19553825C>T	uc001vuz.1	+	0	461	c.409C>T	c.(409-411)Cga>Tga	p.R137*	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	137								p.R136H(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CCACGTCCGTCGAGAAGATCT	0.577000														155			16		0	0	0.003954	0	0
SLC46A2	57864	broad.mit.edu	37	9	115652281	115652281	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:115652281T>C	uc004bgk.3	-	0	913	c.681A>G	c.(679-681)ctA>ctG	p.L227L		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	Homo sapiens solute carrier family 46, member 2 (SLC46A2), mRNA.	227						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CAGGGACCTTTAGCACCAAAA	0.607000														20			9		0	0	0.000978	0	0
BCR	613	broad.mit.edu	37	22	23524006	23524006	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:23524006A>G	uc002zww.3	+	0	1455	c.859A>G	c.(859-861)Atg>Gtg	p.M287V	BCR_uc002zwx.3_Missense_Mutation_p.M287V	NM_004327	NP_004318	P11274	BCR_HUMAN	Homo sapiens breakpoint cluster region (BCR), transcript variant 1, mRNA.	287	Binding to ABL SH2-domain.|Kinase.			M -> I (in Ref. 1; CAA68676).	regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CGTCGGGGGCATGATGGAAGG	0.672000			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""									20			5		0	0	0.000602	0	0
UBAP2	55833	broad.mit.edu	37	9	33923820	33923820	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:33923820A>T	uc003ztq.1	-	23	2882	c.2769T>A	c.(2767-2769)agT>agA	p.S923R	UBAP2_uc011loc.1_Missense_Mutation_p.S832R|UBAP2_uc011lod.1_Missense_Mutation_p.S656R|UBAP2_uc011loe.1_Missense_Mutation_p.S678R|UBAP2_uc011lof.1_Missense_Mutation_p.S848R|UBAP2_uc003ztn.1_Missense_Mutation_p.S162R|UBAP2_uc003zto.1_Missense_Mutation_p.S162R|UBAP2_uc003ztp.2_Missense_Mutation_p.S162R	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	Homo sapiens ubiquitin associated protein 2 (UBAP2), mRNA.	923										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ACTGGAAGGCACTGGGCATGC	0.557000														80			5		0	0	0.000602	0	0
ZC3H14	79882	broad.mit.edu	37	14	89034463	89034463	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:89034463T>C	uc001xww.3	+	2	385	c.160T>C	c.(160-162)Ttt>Ctt	p.F54L	ZC3H14_uc010twd.2_Missense_Mutation_p.F54L|ZC3H14_uc010twe.2_Missense_Mutation_p.F54L|ZC3H14_uc001xwx.3_Missense_Mutation_p.F54L|ZC3H14_uc010twf.2_5'UTR|ZC3H14_uc001xwy.3_Missense_Mutation_p.F20L	NM_024824	NP_079100	Q6PJT7	ZC3HE_HUMAN	Homo sapiens zinc finger CCCH-type containing 14 (ZC3H14), transcript variant 1, mRNA.	54						cytoplasm|nuclear speck	RNA binding|protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TCTGTCCCTGTTTCTAGGGAA	0.408000														25			6		0	0	0.003080	0	0
DUSP13	51207	broad.mit.edu	37	10	76854536	76854536	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:76854536G>A	uc001jwr.3	-	3	558	c.495C>T	c.(493-495)atC>atT	p.I165I	DUSP13_uc001jws.3_3'UTR|DUSP13_uc001jwu.3_Silent_p.I258I|DUSP13_uc001jww.3_Silent_p.I215I|DUSP13_uc009xrs.3_Silent_p.I258I|DUSP13_uc001jwt.3_Silent_p.I258I|DUSP13_uc001jwv.3_Silent_p.I165I	NM_016364	NP_057448	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 6, mRNA.	156	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCACCGTCTGGATGGCCTCTA	0.622000														16			18		0	0	0.004990	0	0
LIPE	3991	broad.mit.edu	37	19	42930869	42930869	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:42930869C>T	uc002otr.3	-	0	710	c.433G>A	c.(433-435)Gag>Aag	p.E145K	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|LIPE_uc002ots.1_5'Flank	NM_005357	NP_005348	Q05469	LIPS_HUMAN	Homo sapiens lipase, hormone-sensitive (LIPE), mRNA.	145					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GGAGGTGGCTCTCCTGGCCCA	0.567000														29			32		0	0	0.001786	0	0
RAP1GDS1	5910	broad.mit.edu	37	4	99325641	99325641	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:99325641A>G	uc003htw.4	+	6	844	c.654A>G	c.(652-654)gaA>gaG	p.E218E	RAP1GDS1_uc003htx.4_Silent_p.E217E|RAP1GDS1_uc003htv.4_Silent_p.E218E|RAP1GDS1_uc003htz.4_Silent_p.E168E|RAP1GDS1_uc003hty.4_Silent_p.E169E|RAP1GDS1_uc003hua.4_Silent_p.E126E	NM_001100426	NP_001093896	P52306	GDS1_HUMAN	Homo sapiens RAP1, GTP-GDP dissociation stimulator 1 (RAP1GDS1), transcript variant 1, mRNA.	217							GTPase activator activity|binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		CAAGTAAAGAACAGTTTGCCA	0.289000			T	NUP98	T-ALL									62			8		0	0	0.003080	0	0
ABHD10	55347	broad.mit.edu	37	3	111710464	111710464	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:111710464C>T	uc003dyk.4	+	4	898	c.817C>T	c.(817-819)Ctc>Ttc	p.L273F	ABHD10_uc011bhq.2_Missense_Mutation_p.L116F	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN	Homo sapiens abhydrolase domain containing 10 (ABHD10), mRNA.	273						mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						GGATGTCATCCTCCGAAAACA	0.418000														69			21		0	0	0.001882	0	0
PLCE1	51196	broad.mit.edu	37	10	95791712	95791712	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:95791712C>T	uc001kjk.3	+	1	1543	c.909C>T	c.(907-909)ttC>ttT	p.F303F	PLCE1_uc010qnx.2_Silent_p.F303F	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	303					Ras protein signal transduction|activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of cell growth|regulation of smooth muscle contraction	Golgi membrane|cytosol|membrane fraction|plasma membrane	Ras GTPase binding|calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTGAGGACTTCCCTGATAATT	0.388000														50			58		0	0	0.003610	0	0
OPALIN	93377	broad.mit.edu	37	10	98109573	98109573	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:98109573G>A	uc001kmj.3	-	3	522	c.83C>T	c.(82-84)cCc>cTc	p.P28L	OPALIN_uc010qor.2_Missense_Mutation_p.P18L|OPALIN_uc001kmi.3_Missense_Mutation_p.P18L|OPALIN_uc001kmk.3_Missense_Mutation_p.P5L|OPALIN_uc010qos.2_Non-coding_Transcript	NM_033207	NP_149984	Q96PE5	OPALI_HUMAN	Homo sapiens oligodendrocytic myelin paranodal and inner loop protein (OPALIN), transcript variant 1, mRNA.	28						Golgi apparatus|integral to membrane|plasma membrane				breast(1)|large_intestine(1)|lung(5)|prostate(2)	9						TCCAAGAGAGGGCCCACAGTC	0.438000														10			16		0	0	0.008871	0	0
GBA2	57704	broad.mit.edu	37	9	35738893	35738893	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:35738893T>C	uc011lpd.2	-	12	2320	c.1821A>G	c.(1819-1821)gaA>gaG	p.E607E	GBA2_uc003zxw.3_Silent_p.E601E|GBA2_uc003zxx.1_5'Flank|GBA2_uc011lpb.1_Silent_p.E601E|GBA2_uc011lpc.1_Silent_p.E601E|GBA2_uc003zxy.1_Silent_p.E314E	NM_020944	NP_065995	Q9HCG7	GBA2_HUMAN	Homo sapiens glucosidase, beta (bile acid) 2 (GBA2), mRNA.	601					O-glycoside catabolic process|bile acid metabolic process|glucosylceramide catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGCCATGGTTCATCATCTG	0.502000														41			8		0	0	0.003080	0	0
ATP2A2	488	broad.mit.edu	37	12	110784264	110784264	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:110784264T>C	uc001tqk.4	+	19	3681	c.3118T>C	c.(3118-3120)Ttc>Ctc	p.F1040L	ATP2A2_uc001tql.4_Intron|ATP2A2_uc021rdt.1_Missense_Mutation_p.F888L|ATP2A2_uc001tqn.4_Missense_Mutation_p.F117L|ATP2A2_uc009zvn.3_Intron	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	1040					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TAGCGATATGTTCTGGTCTTG	0.393000														38			13		0	0	0.004990	0	0
SPATA16	83893	broad.mit.edu	37	3	172835088	172835088	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:172835088G>A	uc003fin.4	-	1	618	c.434C>T	c.(433-435)tCt>tTt	p.S145F		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	145					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)			ACTCCCAGTAGACATGAAGGA	0.428000														53			24		0	0	0.003954	0	0
GTF2IRD2	84163	broad.mit.edu	37	7	74211830	74211830	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:74211830A>G	uc003ubd.1	-	15	2205	c.2021T>C	c.(2020-2022)gTa>gCa	p.V674A	GTF2IRD2_uc010lbt.1_Missense_Mutation_p.V221A	NM_173537	NP_775808	Q86UP8	GTD2A_HUMAN	Homo sapiens GTF2I repeat domain containing 2 (GTF2IRD2), mRNA.	674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						ggacttcactaccacgtccat	0.507000														109			5		0	0	0.001368	0	0
GOLGA4	2803	broad.mit.edu	37	3	37368810	37368810	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:37368810A>G	uc003cgv.3	+	13	5793	c.5433A>G	c.(5431-5433)atA>atG	p.I1811M	GOLGA4_uc010hgr.2_Missense_Mutation_p.I1372M|GOLGA4_uc003cgw.3_Missense_Mutation_p.I1833M|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.I1692M	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	1811	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ATTCCTTGATAGTAGCCCAGC	0.388000														74			5		0	0	0.000602	0	0
DOPEY2	9980	broad.mit.edu	37	21	37617664	37617664	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr21:37617664C>T	uc002yvg.3	+	18	3465	c.3386C>T	c.(3385-3387)tCc>tTc	p.S1129F	DOPEY2_uc011aeb.2_Missense_Mutation_p.S1078F|DOPEY2_uc002yvh.3_5'UTR	NM_005128	NP_005119	Q9Y3R5	DOP2_HUMAN	Homo sapiens dopey family member 2 (DOPEY2), mRNA.	1129					Golgi to endosome transport|endoplasmic reticulum organization|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TCCTCCTTCTCCTCCCCTTCC	0.662000														46			20		0	0	0.008871	0	0
P4HB	5034	broad.mit.edu	37	17	79805189	79805189	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:79805189A>G	uc002kbn.1	-	4	856	c.659T>C	c.(658-660)gTc>gCc	p.V220A	P4HB_uc002kbl.1_5'UTR|P4HB_uc002kbm.1_5'UTR	NM_000918	NP_000909	P07237	PDIA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA.	220					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	ER-Golgi intermediate compartment|cell surface|endoplasmic reticulum lumen|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CTCCTTGGTGACCTCCCCTTC	0.602000														74			11		0	0	0.001855	0	0
APBB1	322	broad.mit.edu	37	11	6425049	6425049	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:6425049G>A	uc001mdb.1	-	2	825	c.725C>T	c.(724-726)tCc>tTc	p.S242F	APBB1_uc001mdd.3_Missense_Mutation_p.S22F|APBB1_uc001mdc.1_Missense_Mutation_p.S242F|APBB1_uc010rab.2_5'Flank|APBB1_uc010rad.2_5'Flank|APBB1_uc010rae.1_Missense_Mutation_p.S7F|APBB1_uc009yey.2_5'UTR|APBB1_uc009yfa.2_5'UTR|APBB1_uc010rag.1_5'UTR|APBB1_uc009yfb.2_5'UTR|APBB1_uc001mde.2_5'UTR|APBB1_uc010rah.1_5'UTR	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	242					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.S242F(2)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GTTCCAGAAGGAATCTGCCAG	0.602000														17			11		0	0	0.001368	0	0
PDIA3	2923	broad.mit.edu	37	15	44055313	44055313	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:44055313T>C	uc001zsu.3	+	4	659	c.511T>C	c.(511-513)Ttc>Ctc	p.F171L	PDIA3_uc010bdp.3_Missense_Mutation_p.F151L|PDIA3_uc010ued.2_5'UTR	NM_005313	NP_005304	P30101	PDIA3_HUMAN	Homo sapiens protein disulfide isomerase family A, member 3 (PDIA3), mRNA.	171					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|protein import into nucleus|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		TCACTCCGAGTTCCTAAAAGC	0.403000														51			17		0	0	0.004007	0	0
OASL	8638	broad.mit.edu	37	12	121469308	121469308	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:121469308G>A	uc001tzj.1	-	2	600	c.594C>T	c.(592-594)ttC>ttT	p.F198F	OASL_uc001tzk.1_Silent_p.F198F	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	198					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GATGTTTCACGAAATTTCTCT	0.587000														216			119		0	0	0.003610	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39182924	39182924	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:39182924A>G	uc002hvu.3	-	0	531	c.484T>C	c.(484-486)Tcc>Ccc	p.S162P		NM_031957	NP_114163	Q9BYS1	KRA15_HUMAN	Homo sapiens keratin associated protein 1-5 (KRTAP1-5), mRNA.	162	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament				central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			CGGCAGCAGGACTGTCCACAG	0.592000														95			19		0	0	0.007413	0	0
SCN5A	6331	broad.mit.edu	37	3	38662413	38662413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:38662413C>T	uc021wvo.1	-	3	584	c.532G>A	c.(532-534)Gct>Act	p.A178T	SCN5A_uc021wvk.1_Missense_Mutation_p.A178T|SCN5A_uc021wvl.1_Missense_Mutation_p.A178T|SCN5A_uc021wvm.1_Missense_Mutation_p.A178T|SCN5A_uc021wvn.1_Missense_Mutation_p.A178T|SCN5A_uc021wvp.1_Missense_Mutation_p.A178T|SCN5A_uc021wvq.1_Missense_Mutation_p.A178T|SCN5A_uc021wvr.1_Missense_Mutation_p.A178T|SCN5A_uc021wvs.1_Missense_Mutation_p.A178T|SCN5A_uc021wvt.1_Missense_Mutation_p.A178T|SCN5A_uc021wvu.1_Missense_Mutation_p.A178T|SCN5A_uc021wvv.1_Missense_Mutation_p.A178T|SCN5A_uc021wvj.1_Missense_Mutation_p.A44T|SCN5A_uc021wvi.1_Missense_Mutation_p.A44T|SCN5A_uc010hhl.1_Intron	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	178					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)	AAGCCTCGAGCCAGAATCTTG	0.542000														21			11		0	0	0.001368	0	0
ATL2	64225	broad.mit.edu	37	2	38525630	38525630	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:38525630G>A	uc002rqq.3	-	11	1318	c.1288C>T	c.(1288-1290)Cgt>Tgt	p.R430C	ATL2_uc010ynm.2_Missense_Mutation_p.R412C|ATL2_uc010ynn.2_Missense_Mutation_p.R412C|ATL2_uc010yno.2_Missense_Mutation_p.R259C|ATL2_uc002rqr.3_Missense_Mutation_p.R259C|ATL2_uc002rqs.3_Missense_Mutation_p.R430C	NM_001135673	NP_001129145	Q8NHH9	ATLA2_HUMAN	Homo sapiens atlastin GTPase 2 (ATL2), transcript variant 2, mRNA.	430					Golgi organization|endoplasmic reticulum organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22						TTTACTGAACGAAATTGTTTT	0.428000														99			51		0	0	0.003610	0	0
OR4N5	390437	broad.mit.edu	37	14	20612527	20612527	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:20612527C>T	uc010tla.2	+	0	633	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		TCCTGTGCTTCCTGGGCCTTC	0.527000														33			20		0	0	0.008871	0	0
ANTXR1	84168	broad.mit.edu	37	2	69409703	69409703	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:69409703G>A	uc002sfg.3	+	15	1620	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K		NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	422					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						CAAGATGCCGGAGCAGGAATA	0.463000									Familial Infantile Hemangioma					74			33		0	0	0.003755	0	0
FAM134A	79137	broad.mit.edu	37	2	220047320	220047320	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:220047320A>G	uc002vjw.4	+	8	1737	c.1601A>G	c.(1600-1602)gAc>gGc	p.D534G	FAM134A_uc010fwc.3_Missense_Mutation_p.D327G|FAM134A_uc002vjx.3_Missense_Mutation_p.D292G	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	Homo sapiens family with sequence similarity 134, member A (FAM134A), mRNA.	534						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTACAGTCAGACCAAGAAGCT	0.602000														59			9		0	0	0.006214	0	0
OTOGL	283310	broad.mit.edu	37	12	80632729	80632729	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:80632729C>T	uc001szd.3	+	8	895	c.889C>T	c.(889-891)Ccg>Tcg	p.P297S		NM_173591	NP_775862			Homo sapiens otogelin-like (OTOGL), mRNA.											breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						TTTTCCAAATCCGTGCTCCAG	0.393000														16			10		0	0	0.008291	0	0
ESYT2	57488	broad.mit.edu	37	7	158560404	158560404	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:158560404T>C	uc003woc.1	-	7	720	c.481A>G	c.(481-483)Atc>Gtc	p.I161V	ESYT2_uc003wob.1_Missense_Mutation_p.I337V|ESYT2_uc003wod.1_Missense_Mutation_p.I337V	NM_020728	NP_065779	A0FGR8	ESYT2_HUMAN	Homo sapiens extended synaptotagmin-like protein 2 (ESYT2), mRNA.	365						integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						GGAACGGTGATTCGATTGGGA	0.403000														120			9		0	0	0.004482	0	0
KRT72	140807	broad.mit.edu	37	12	52985259	52985259	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:52985259A>T	uc001sar.2	-	4	1038	c.952T>A	c.(952-954)Tac>Aac	p.Y318N	KRT72_uc001saq.2_Missense_Mutation_p.Y318N|KRT72_uc010sns.1_Missense_Mutation_p.Y318N|KRT72_uc010snt.1_Missense_Mutation_p.Y130N	NM_001146225	NP_542785	Q14CN4	K2C72_HUMAN	Homo sapiens keratin 72 (KRT72), transcript variant 2, mRNA.	318	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		TTGGTCTGGTACAGGGTCTCA	0.582000														25			6		0	0	0.001984	0	0
CHRND	1144	broad.mit.edu	37	2	233396253	233396253	+	Splice_Site	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:233396253T>C	uc002vsw.3	+	9	937	c.933_splice	c.e9-1	p.K311_splice	CHRND_uc021vyi.1_Splice_Site|CHRND_uc010zmg.2_Splice_Site_p.K296_splice|CHRND_uc010zmh.2_Splice_Site_p.K117_splice	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	311					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)		TGCCCACAGGTTCCTGCTCTT	0.597000														113			21		0	0	0.001523	0	0
C7orf34	135927	broad.mit.edu	37	7	142637463	142637463	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:142637463A>C	uc003wca.2	+	1	274	c.233A>C	c.(232-234)gAg>gCg	p.E78A		NM_178829	NP_849151	Q96L11	CG034_HUMAN	Homo sapiens chromosome 7 open reading frame 34 (C7orf34), mRNA.	53						extracellular region		p.S77S(1)		large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					CAGTTCGAAGAGCACTTTGTG	0.532000														137			7		0	0	0.003080	0	0
WDR48	57599	broad.mit.edu	37	3	39108073	39108073	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:39108073A>G	uc003cit.3	+	3	313	c.303A>G	c.(301-303)gtA>gtG	p.V101V	WDR48_uc011ayt.1_Silent_p.V92V|WDR48_uc011ayu.1_Silent_p.V19V|WDR48_uc011ayv.1_Intron|WDR48_uc003ciu.3_Non-coding_Transcript	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	Homo sapiens WD repeat domain 48 (WDR48), mRNA.	101					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding	p.V101V(2)		breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CAGTAAAAGTATGGAATGCAC	0.333000														43			8		0	0	0.008291	0	0
HOXA3	3200	broad.mit.edu	37	7	27148097	27148097	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:27148097T>C	uc011jzl.2	-	2	969	c.769A>G	c.(769-771)Acg>Gcg	p.T257A	HOXA3_uc003syk.3_Missense_Mutation_p.T257A	NM_030661	NP_705895	O43365	HXA3_HUMAN	Homo sapiens homeobox A3 (HOXA3), transcript variant 1, mRNA.	257					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						CCCGATGACGTTAGCATGCCC	0.572000														92			11		0	0	0.000978	0	0
L32131	0	broad.mit.edu	37	17	58512636	58512636	+	RNA	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:58512636C>T	uc002iyr.1	-	0		c.722G>A								Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12.																		TCCCTTTTTCCCTTTGGGTAC	0.502000														11			3		0	0	0.004672	0	0
BRD1	23774	broad.mit.edu	37	22	50216618	50216618	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:50216618G>A	uc011arg.2	-	0	1362	c.1348C>T	c.(1348-1350)Cct>Tct	p.P450S	BRD1_uc011arf.2_5'UTR|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Missense_Mutation_p.P450S|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Missense_Mutation_p.P450S	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	430					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GGAATATAAGGAGCGCACACG	0.597000														68			41		0	0	0.002222	0	0
TIGD5	84948	broad.mit.edu	37	8	144681449	144681449	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:144681449A>G	uc003yyx.2	+	0	1376	c.1376A>G	c.(1375-1377)tAc>tGc	p.Y459C	EEF1D_uc011lki.2_5'Flank|EEF1D_uc003yyv.3_5'Flank|EEF1D_uc003yyu.3_5'Flank|EEF1D_uc011lkk.2_5'Flank|EEF1D_uc003yyt.3_5'Flank|EEF1D_uc003yyr.3_5'Flank|EEF1D_uc003yys.3_5'Flank|EEF1D_uc011lkl.2_5'Flank	NM_032862	NP_116251	E7EWS2	E7EWS2_HUMAN	Homo sapiens tigger transposable element derived 5 (TIGD5), mRNA.	459					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GACATGCTCTACCTGGCTGGC	0.677000														29			6		0	0	0.001168	0	0
ZNF735	730291	broad.mit.edu	37	7	63680547	63680547	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:63680547G>A	uc011kdn.2	+	3	1118	c.1118G>A	c.(1117-1119)aGa>aAa	p.R373K		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										GCACATAAGAGAATTCATACT	0.373000														25			5		0	0	0.000602	0	0
FBXW11	23291	broad.mit.edu	37	5	171327049	171327049	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:171327049A>G	uc003mbm.1	-	3	800	c.429T>C	c.(427-429)tcT>tcC	p.S143S	FBXW11_uc011dey.1_Silent_p.S111S|FBXW11_uc003mbl.1_Silent_p.S130S|FBXW11_uc003mbn.1_Silent_p.S109S	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	Homo sapiens F-box and WD repeat domain containing 11 (FBXW11), transcript variant 3, mRNA.	143	F-box.				SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway|cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process	SCF ubiquitin ligase complex|centrosome|cytosol|nucleus	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTGCACACAGAGACCTGGCAT	0.458000														113			61		0	0	0.003610	0	0
SCN4A	6329	broad.mit.edu	37	17	62022736	62022736	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:62022736A>C	uc002jds.1	-	18	3781	c.3704T>G	c.(3703-3705)cTc>cGc	p.L1235R		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1235					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CAGGAGGGAGAGGTAGCCCAG	0.617000														37			6		0	0	0.001168	0	0
KIAA1109	84162	broad.mit.edu	37	4	123192262	123192262	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:123192262C>T	uc003ieh.3	+	44	7628	c.7583C>T	c.(7582-7584)tCc>tTc	p.S2528F	KIAA1109_uc003iel.1_Missense_Mutation_p.S463F|KIAA1109_uc003iek.2_Missense_Mutation_p.S1147F	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2528					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATGGAAAAGTCCGTGTGCACC	0.438000														81			19		0	0	0.006122	0	0
CDH7	1005	broad.mit.edu	37	18	63481720	63481720	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:63481720G>A	uc002lkb.3	+	4	932	c.506_splice	c.e4-1	p.G169_splice	CDH7_uc002ljz.3_Splice_Site_p.G169_splice|CDH7_uc002lka.3_Splice_Site_p.G169_splice	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	169	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				TTGGCATCTAGGGACCTCAGT	0.408000														61			34		0	0	0.006999	0	0
OR10Q1	219960	broad.mit.edu	37	11	57996058	57996058	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:57996058G>A	uc010rkd.2	-	0	333	c.290C>T	c.(289-291)tCg>tTg	p.S97L		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TCCAGCCAACGAAATGGGCTT	0.522000														12			13		0	0	0.001855	0	0
LRIT3	345193	broad.mit.edu	37	4	110788811	110788812	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:110788811_110788812CC>TT	uc003hzx.4	+	1	662_663	c.469_470CC>TT	c.(469-471)cct>TTt	p.P157F	LRIT3_uc003hzw.4_Missense_Mutation_p.P19F	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	157	LRRCT.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		ACAGGACAATCCTTGGTTCTGT	0.421000														22			19		0	0	0.004672	0	0
NPHS1	4868	broad.mit.edu	37	19	36330311	36330311	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:36330311G>A	uc002oby.3	-	21	3093	c.2937C>T	c.(2935-2937)gcC>gcT	p.A979A	NPHS1_uc010eem.1_Non-coding_Transcript	NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	979	Fibronectin type-III.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGTCCCCAGGGCCTCATACC	0.577000														33			14		0	0	0.004007	0	0
CDC5L	988	broad.mit.edu	37	6	44374129	44374129	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:44374129A>G	uc003oxl.3	+	6	1138	c.828A>G	c.(826-828)ccA>ccG	p.P276P		NM_001253	NP_001244	Q99459	CDC5L_HUMAN	Homo sapiens CDC5 cell division cycle 5-like (S. pombe) (CDC5L), mRNA.	276	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGATTTACCATCAGCTATTC	0.323000														108			19		0	0	0.007413	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110498990	110498990	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:110498990G>A	uc003yne.3	+	58	9924	c.9820G>A	c.(9820-9822)Gac>Aac	p.D3274N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3274					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)			TTGGTCTGAGGACTCTTTTGG	0.413000										HNSCC(38;0.096)				161			150		0	0	0.003610	0	0
CSDE1	7812	broad.mit.edu	37	1	115272916	115272916	+	Missense_Mutation	SNP	T	C	C	rs149300730		TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:115272916T>C	uc001efi.3	-	12	1979	c.1457A>G	c.(1456-1458)aAt>aGt	p.N486S	CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Missense_Mutation_p.N440S|CSDE1_uc001efm.3_Missense_Mutation_p.N455S|CSDE1_uc009wgv.3_Missense_Mutation_p.N440S|CSDE1_uc001efl.3_Missense_Mutation_p.N409S|CSDE1_uc001efn.3_Missense_Mutation_p.N409S	NM_001242891	NP_001229820	O75534	CSDE1_HUMAN	Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA.	440	CSD 6.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|RNA binding|protein binding	p.I485M(1)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		GGTTTTAGGATTGGAAAAAGT	0.388000														109			14		0	0	0.002450	0	0
IL20RA	53832	broad.mit.edu	37	6	137322980	137322981	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:137322980_137322981GG>AA	uc003qhj.3	-	6	1809_1810	c.1376_1377CC>TT	c.(1375-1377)ccc>cTT	p.P459L	IL20RA_uc011edl.2_Missense_Mutation_p.P410L|IL20RA_uc003qhk.3_Missense_Mutation_p.P348L|IL20RA_uc003qhi.3_Missense_Mutation_p.P191L	NM_014432	NP_055247	Q9UHF4	I20RA_HUMAN	Homo sapiens interleukin 20 receptor, alpha (IL20RA), mRNA.	459						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)		CCTGCGCCAGGGGGTCTAAGTC	0.584000														33			20		0	0	0.004672	0	0
CCR3	1232	broad.mit.edu	37	3	46306942	46306942	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:46306942A>C	uc003cpl.2	+	2	1423	c.392A>C	c.(391-393)aAc>aCc	p.N131T	CCR3_uc003cpg.2_Missense_Mutation_p.N98T|CCR3_uc003cpk.2_Missense_Mutation_p.N119T|CCR3_uc003cpi.2_Missense_Mutation_p.N98T|CCR3_uc010hjb.2_Missense_Mutation_p.N116T|CCR3_uc003cpj.2_Missense_Mutation_p.N98T|CCR3_uc021wwz.1_Missense_Mutation_p.N98T	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	98					G-protein signaling, coupled to cAMP nucleotide second messenger|cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		AGGGGGCATAACTGGGTTTTT	0.493000														148			83		0	0	0.003610	0	0
ATAD2	29028	broad.mit.edu	37	8	124357152	124357152	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:124357152T>C	uc003yqh.4	-	18	2798	c.2690A>G	c.(2689-2691)gAc>gGc	p.D897G	ATAD2_uc011lii.2_Missense_Mutation_p.D688G|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.D897G	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	897					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			ATGGGGTTTGTCAGAAGTTGC	0.378000														115			28		0	0	0.006320	0	0
ATP5C1	509	broad.mit.edu	37	10	7841005	7841005	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:7841005C>T	uc001iju.3	+	3	354	c.276C>T	c.(274-276)ctC>ctT	p.L92L	ATP5C1_uc010qbb.2_Silent_p.L92L|ATP5C1_uc009xiq.1_Silent_p.L92L|ATP5C1_uc010qbc.1_Silent_p.L43L|ATP5C1_uc001ijv.3_Silent_p.L92L	NM_001001973	NP_001001973	P36542	ATPG_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 (ATP5C1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	92					oxidative phosphorylation|respiratory electron transport chain	mitochondrial matrix|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1)	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						AGAAACACCTCCTTATTGGTG	0.398000														58			45		0	0	0.003610	0	0
PDE8A	5151	broad.mit.edu	37	15	85657157	85657157	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:85657157A>G	uc002blh.3	+	13	1428	c.1239A>G	c.(1237-1239)gaA>gaG	p.E413E	PDE8A_uc021stv.1_Silent_p.E341E|PDE8A_uc002bli.3_Silent_p.E367E|PDE8A_uc010bnc.3_Silent_p.E166E|PDE8A_uc010bnd.3_Silent_p.E166E|PDE8A_uc002blj.3_Silent_p.E33E|PDE8A_uc002blk.3_Silent_p.E33E	NM_002605	NP_001230066	O60658	PDE8A_HUMAN	Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA.	413					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			CTGTGACAGAAGCCCTAGACC	0.413000														67			12		0	0	0.002450	0	0
LMAN1L	79748	broad.mit.edu	37	15	75105363	75105363	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:75105363T>C	uc002ayt.1	+	0	170	c.168T>C	c.(166-168)caT>caC	p.H56H	LMAN1L_uc010bkd.2_5'UTR|LMAN1L_uc010ulo.1_5'UTR|LMAN1L_uc010bke.1_Silent_p.H56H	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	56	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCTGGAGCCATCATGGAGGTG	0.607000														55			13		0	0	0.001368	0	0
USH2A	7399	broad.mit.edu	37	1	215847853	215847853	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:215847853G>A	uc001hku.1	-	62	13787	c.13400C>T	c.(13399-13401)cCa>cTa	p.P4467L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4467	Fibronectin type-III 30.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.P4467Q(2)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TGGGTTTCTTGGAGGTTTCCA	0.453000										HNSCC(13;0.011)				180			36		0	0	0.006230	0	0
SSX9	280660	broad.mit.edu	37	X	48163708	48163708	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:48163708G>A	uc022bvu.1	-	1	140	c.138C>T	c.(136-138)atC>atT	p.I46I						RecName: Full=Protein SSX9;											breast(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|stomach(1)	8						ACACATAGATGATTTTCTCCG	0.378000														10			26		0	0	0.005443	0	0
CELSR1	9620	broad.mit.edu	37	22	46929665	46929665	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:46929665A>G	uc003bhw.1	-	0	3403	c.3403T>C	c.(3403-3405)Tca>Cca	p.S1135P		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1135	Cadherin 9.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGGCTGTCTGACACGTCGGGG	0.617000														56			12		0	0	0.000978	0	0
ANK3	288	broad.mit.edu	37	10	61829894	61829894	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:61829894G>A	uc001jky.3	-	36	11083	c.10745C>T	c.(10744-10746)aCa>aTa	p.T3582I	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3582					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						GGCTGGCGTTGTATCAGGGGT	0.488000														50			13		0	0	0.001368	0	0
GGA3	23163	broad.mit.edu	37	17	73238472	73238472	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:73238472A>G	uc002jni.2	-	7	731	c.692T>C	c.(691-693)aTg>aCg	p.M231T	GGA3_uc002jnk.2_Missense_Mutation_p.M159T|GGA3_uc002jnj.2_Missense_Mutation_p.M198T|GGA3_uc010wry.2_Missense_Mutation_p.M159T|GGA3_uc010wrw.2_Missense_Mutation_p.M109T|GGA3_uc010wrx.2_Missense_Mutation_p.M109T|GGA3_uc010wrz.2_3'UTR	NM_138619	NP_619525	Q9NZ52	GGA3_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 3 (GGA3), transcript variant long, mRNA.	231	Binds to ARF1 (in long isoform).|GAT.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			breast(2)|endometrium(3)|large_intestine(4)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	20			all cancers(21;2.39e-06)|Epithelial(20;2.38e-05)			ATGAAGCAGCATCTCACTGAG	0.592000														158			29		0	0	0.001786	0	0
KCNQ5	56479	broad.mit.edu	37	6	73904344	73904344	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:73904344C>T	uc011dyh.2	+	14	2410	c.2063C>T	c.(2062-2064)tCc>tTc	p.S688F	KCNQ5_uc011dyi.2_Missense_Mutation_p.S679F|KCNQ5_uc010kat.3_Missense_Mutation_p.S660F|KCNQ5_uc003pgk.3_Missense_Mutation_p.S669F|KCNQ5_uc011dyj.2_Missense_Mutation_p.S559F|KCNQ5_uc011dyk.2_Missense_Mutation_p.S419F	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	669					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CTTTCGGGTTCCGCACAAAAC	0.493000														88			42		0	0	0.003214	0	0
BMPER	168667	broad.mit.edu	37	7	34192847	34192847	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:34192847G>A	uc011kap.2	+	15	2394	c.2020G>A	c.(2020-2022)Gga>Aga	p.G674R		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	674	TIL.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCTTCACAAGGGAAGGTGCAT	0.507000														82			42		0	0	0.003610	0	0
SLC29A1	2030	broad.mit.edu	37	6	44197336	44197336	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:44197336A>G	uc003oww.1	+	4	551	c.359A>G	c.(358-360)aAc>aGc	p.N120S	SLC29A1_uc021yzw.1_Missense_Mutation_p.N41S|SLC29A1_uc011dvp.1_Missense_Mutation_p.N60S|SLC29A1_uc003owu.1_Missense_Mutation_p.N41S|SLC29A1_uc003owv.1_Missense_Mutation_p.N41S|SLC29A1_uc011dvq.1_Missense_Mutation_p.N83S|SLC29A1_uc003owx.1_Missense_Mutation_p.N41S|SLC29A1_uc003owy.1_Missense_Mutation_p.N41S|SLC29A1_uc003owz.1_Missense_Mutation_p.N41S|SLC29A1_uc021yzx.1_Missense_Mutation_p.N41S	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	41					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)	tatttcacaAACCGCCTGGAC	0.582000														49			4		0	0	0.000248	0	0
DAG1	1605	broad.mit.edu	37	3	49570436	49570436	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:49570436A>G	uc021wxz.1	+	2	2961	c.2492A>G	c.(2491-2493)tAc>tGc	p.Y831C	DAG1_uc021wya.1_Missense_Mutation_p.Y831C|DAG1_uc021wyb.1_Missense_Mutation_p.Y831C|DAG1_uc021wyc.1_Missense_Mutation_p.Y831C|DAG1_uc021wyd.1_Missense_Mutation_p.Y831C|DAG1_uc021wye.1_Missense_Mutation_p.Y831C|DAG1_uc021wyf.1_Missense_Mutation_p.Y831C|DAG1_uc021wyg.1_Missense_Mutation_p.Y831C|DAG1_uc021wyh.1_Missense_Mutation_p.Y831C|DAG1_uc021wyi.1_Missense_Mutation_p.Y831C|DAG1_uc021wyj.1_Missense_Mutation_p.Y831C|DAG1_uc021wyk.1_Missense_Mutation_p.Y831C|DAG1_uc003cxc.4_Missense_Mutation_p.Y831C	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN	Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.	831	Pro-rich.|Required for interaction with CAV3.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCTCCTGAGTACCCCAACCAG	0.607000														20			6		0	0	0.001168	0	0
WNT9B	7484	broad.mit.edu	37	17	44952552	44952552	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:44952552G>A	uc002ikw.1	+	2	457	c.420G>A	c.(418-420)atG>atA	p.M140I	WNT9B_uc002ikx.1_Missense_Mutation_p.M140I	NM_003396	NP_003387	O14905	WNT9B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9B (WNT9B), mRNA.	140					Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway|anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|extracellular matrix structural constituent			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CTGGGCGCATGGAGCGCTGCA	0.657000														73			42		0	0	0.008740	0	0
IL17RD	54756	broad.mit.edu	37	3	57143644	57143644	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:57143644C>T	uc003dil.3	-	4	560	c.471G>A	c.(469-471)acG>acA	p.T157T	IL17RD_uc003dik.3_Silent_p.T133T|IL17RD_uc010hna.3_Silent_p.T13T|IL17RD_uc011bex.1_Silent_p.T13T	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	157						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CGAAATAATCCGTTTCAAATT	0.413000														38			26		0	0	0.003330	0	0
DHX40	79665	broad.mit.edu	37	17	57644043	57644043	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:57644043G>A	uc002ixn.2	+	1	315	c.168G>A	c.(166-168)caG>caA	p.Q56Q	DHX40_uc010woe.2_Silent_p.Q56Q|DHX40_uc002ixo.1_5'UTR	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.	56							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTCCTATTCAGAAACAAAGAA	0.353000														32			15		0	0	0.002450	0	0
SCRIB	23513	broad.mit.edu	37	8	144877243	144877243	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:144877243G>C	uc003yzp.1	-	26	3818	c.3811C>G	c.(3811-3813)Ctg>Gtg	p.L1271V	SCRIB_uc003yzn.1_5'UTR|SCRIB_uc003yzo.1_Missense_Mutation_p.L1271V	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	1271					activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACGGCGGCCAGGGCGCGGTAG	0.697000														32			7		0	0	0.001984	0	0
PAPPA	5069	broad.mit.edu	37	9	119106930	119106930	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:119106930G>A	uc004bjn.3	+	13	4101	c.3720G>A	c.(3718-3720)gtG>gtA	p.V1240V	PAPPA_uc011lxq.2_Silent_p.V615V	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1240	Sushi 1.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AGTGTACTGTGAGCTGCCGGA	0.572000														23			24		0	0	0.003954	0	0
OLFM3	118427	broad.mit.edu	37	1	102269986	102269986	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:102269986C>T	uc001duf.2	-	5	1316	c.1245G>A	c.(1243-1245)aaG>aaA	p.K415K	OLFM3_uc001dug.2_Silent_p.K395K|OLFM3_uc001duh.2_Non-coding_Transcript|OLFM3_uc001dui.2_Non-coding_Transcript|OLFM3_uc001duj.2_Silent_p.K320K|OLFM3_uc001due.2_Non-coding_Transcript	NM_058170	NP_477518	Q96PB7	NOE3_HUMAN	Homo sapiens olfactomedin 3 (OLFM3), mRNA.	415	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		AATAATACACCTTGGCTCCAG	0.448000														45			74		0	0	0.003610	0	0
GLT8D2	83468	broad.mit.edu	37	12	104388243	104388243	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:104388243C>A	uc001tkh.1	-	8	1194	c.637G>T	c.(637-639)Gcc>Tcc	p.A213S	GLT8D2_uc001tki.1_Missense_Mutation_p.A213S	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA.	213						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TCCTTGATGGCCTTCTTCCGG	0.478000														63			15		8.28177e-16	1.45859e-15	0.007413	1	0
SCN4A	6329	broad.mit.edu	37	17	62038588	62038588	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:62038588C>T	uc002jds.1	-	10	1887	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	604					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E604E(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TCAAAGTGCTCCGTCATGGGG	0.602000														31			20		0	0	0.008871	0	0
TPR	7175	broad.mit.edu	37	1	186291528	186291528	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:186291528T>C	uc001grv.3	-	44	6680	c.6383A>G	c.(6382-6384)gAt>gGt	p.D2128G	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	2128					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GTCTTCATCATCAAAAAAATG	0.338000			T	NTRK1	papillary thyroid									50			15		0	0	0.004007	0	0
CATSPERD	257062	broad.mit.edu	37	19	5772944	5772944	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:5772944G>A	uc002mda.3	+	19	1970	c.1909G>A	c.(1909-1911)Gaa>Aaa	p.E637K		NM_152784	NP_689997	Q86XM0	TM146_HUMAN	Homo sapiens transmembrane protein 146 (TMEM146), mRNA.	637						integral to membrane											CATGATAAAGGAATTCGGGGG	0.572000														22			17		0	0	0.007413	0	0
FRYL	285527	broad.mit.edu	37	4	48578211	48578211	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:48578211T>C	uc003gyh.1	-	23	3162	c.2557A>G	c.(2557-2559)Acc>Gcc	p.T853A	FRYL_uc003gyk.3_Missense_Mutation_p.T853A	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	853					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTTGTGGTGGTATTTACTTTC	0.373000														68			15		0	0	0.003163	0	0
NDST4	64579	broad.mit.edu	37	4	115997908	115997908	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:115997908G>A	uc003ibu.3	-	1	964	c.285C>T	c.(283-285)atC>atT	p.I95I	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	95	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAATAGCTATGATATCTTGAC	0.433000														56			36		0	0	0.003755	0	0
SNX17	9784	broad.mit.edu	37	2	27596119	27596119	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:27596119C>T	uc002rkg.1	+	3	484	c.262C>T	c.(262-264)Caa>Taa	p.Q88*	EIF2B4_uc002rka.3_5'Flank|EIF2B4_uc002rkb.3_5'Flank|EIF2B4_uc002rkc.3_5'Flank|EIF2B4_uc002rke.3_5'Flank|EIF2B4_uc002rkf.1_5'Flank|SNX17_uc010ylj.1_Nonsense_Mutation_p.Q68*|SNX17_uc002rki.1_Non-coding_Transcript|SNX17_uc002rkh.1_5'UTR|SNX17_uc010yll.1_5'UTR|SNX17_uc010ylm.1_5'UTR|SNX17_uc010yln.1_Nonsense_Mutation_p.Q76*|SNX17_uc010ylo.1_Nonsense_Mutation_p.Q6*|SNX17_uc010ylp.1_Nonsense_Mutation_p.Q63*|SNX17_uc010ylk.1_5'UTR|SNX17_uc010eza.1_5'UTR|SNX17_uc010ylq.1_5'UTR	NM_014748	NP_055563	Q15036	SNX17_HUMAN	Homo sapiens sorting nexin 17 (SNX17), mRNA.	88	PX.				cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	Golgi apparatus|cytoplasmic vesicle membrane|cytosol|early endosome	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding	p.R87W(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTAGTTCGGCAAGACCCATT	0.527000														57			12		0	0	0.001855	0	0
COL8A1	1295	broad.mit.edu	37	3	99513985	99513985	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:99513985G>A	uc003dti.1	+	2	1371	c.1243G>A	c.(1243-1245)Gga>Aga	p.G415R	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.G414R|COL8A1_uc003dth.1_Missense_Mutation_p.G414R	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	414	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						TGGACCCAAAGGAGAAGGTGG	0.607000														37			17		0	0	0.001523	0	0
LIPI	149998	broad.mit.edu	37	21	15561379	15561379	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr21:15561379C>T	uc002yjm.3	-	1	481	c.471G>A	c.(469-471)ttG>ttA	p.L157L	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Silent_p.L136L|LIPI_uc021whh.1_Silent_p.L136L|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Silent_p.L136L|LIPI_uc021whe.1_Silent_p.L136L|LIPI_uc021whf.1_Silent_p.L136L	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	136					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TGTGCACACTCAAACTCACAG	0.323000														51			21		0	0	0.001523	0	0
SBK1	388228	broad.mit.edu	37	16	28331598	28331598	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:28331598A>G	uc002dpd.3	+	3	1420	c.631A>G	c.(631-633)Acc>Gcc	p.T211A		NM_001024401	NP_001019572	Q52WX2	SBK1_HUMAN	Homo sapiens SH3-binding domain kinase 1 (SBK1), mRNA.	211	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						CGTGAGCGGCACCATCCCTTA	0.711000														12			6		0	0	0.001984	0	0
NPSR1	387129	broad.mit.edu	37	7	34884511	34884511	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:34884511G>A	uc003teh.1	+	6	889	c.761G>A	c.(760-762)gGg>gAg	p.G254E	NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.G254E|NPSR1_uc010kwt.1_Missense_Mutation_p.G101E|NPSR1_uc010kwu.1_Missense_Mutation_p.G44E|NPSR1_uc010kwv.1_Missense_Mutation_p.G188E|NPSR1_uc003tei.1_Missense_Mutation_p.G254E|NPSR1_uc010kww.1_Missense_Mutation_p.G243E|NPSR1_uc011kar.1_Missense_Mutation_p.G188E	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	254						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TCTACAGATGGGAAACTGTGC	0.408000														55			18		0	0	0.001523	0	0
TATDN3	128387	broad.mit.edu	37	1	212977941	212977941	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:212977941T>C	uc001hjo.2	+	6	529	c.435T>C	c.(433-435)aaT>aaC	p.N145N	TATDN3_uc010ptj.1_Silent_p.N145N|TATDN3_uc010ptk.1_Silent_p.N145N|TATDN3_uc001hjp.2_Silent_p.N145N|TATDN3_uc010ptl.1_Silent_p.N124N|TATDN3_uc010ptm.1_Silent_p.N93N	NM_001042552	NP_001036017	Q17R31	TATD3_HUMAN	Homo sapiens TatD DNase domain containing 3 (TATDN3), transcript variant 1, mRNA.	145						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			endometrium(1)|large_intestine(2)|lung(6)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00699)|all cancers(67;0.0118)|GBM - Glioblastoma multiforme(131;0.0801)|Epithelial(68;0.104)		TAAACAGAAATGTGCACTCAC	0.338000														43			16		0	0	0.006122	0	0
CDK5	1020	broad.mit.edu	37	7	150752153	150752153	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:150752153G>A	uc003wir.2	-	8	728	c.611C>T	c.(610-612)cCc>cTc	p.P204L	CDK5_uc022apy.1_5'Flank|CDK5_uc003wis.2_Missense_Mutation_p.P172L	NM_004935	NP_004926	Q00535	CDK5_HUMAN	Homo sapiens cyclin-dependent kinase 5 (CDK5), transcript variant 1, mRNA.	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	ATP binding|ErbB-2 class receptor binding|ErbB-3 class receptor binding|acetylcholine receptor activator activity|cyclin-dependent protein kinase activity|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)		ATCATTGCCGGGAAAAAGAGG	0.557000														37			52		0	0	0.003610	0	0
TRBV5-5	28610	broad.mit.edu	37	7	142149034	142149034	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:142149034G>A	uc010lnw.1	-	1	319	c.237C>T	c.(235-237)ttC>ttT	p.F79F	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV5-5_uc022anh.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		ATCGATCAGGGAAGTTTCCTC	0.522000														184			37		0	0	0.003755	0	0
CARD14	79092	broad.mit.edu	37	17	78163555	78163555	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:78163555G>A	uc002jxw.1	+	5	1041	c.847G>A	c.(847-849)Gag>Aag	p.E283K	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Missense_Mutation_p.E283K|CARD14_uc010wud.1_Non-coding_Transcript|CARD14_uc002jxx.3_Missense_Mutation_p.E46K|CARD14_uc010dhu.1_Missense_Mutation_p.E81K	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	283					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GCCCCAGGCGGAGAAGGACAT	0.682000														14			6		0	0	0.001168	0	0
USH2A	7399	broad.mit.edu	37	1	215972263	215972263	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:215972263T>A	uc001hku.1	-	49	10331	c.9944A>T	c.(9943-9945)tAc>tTc	p.Y3315F		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3315					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AAGGCGATTGTACACCACTCC	0.483000										HNSCC(13;0.011)				102			16		0	0	0.004990	0	0
RAMP3	10268	broad.mit.edu	37	7	45222948	45222948	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:45222948T>C	uc003tnb.3	+	2	445	c.384T>C	c.(382-384)gtT>gtC	p.V128V		NM_005856	NP_005847	O60896	RAMP3_HUMAN	Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA.	128					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity	p.V127I(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	TACCCGTCGTTCTGACTGTCG	0.617000														142			28		0	0	0.002096	0	0
NLRP5	126206	broad.mit.edu	37	19	56515263	56515263	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:56515263G>A	uc002qmj.3	+	1	244	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K	NLRP5_uc002qmi.3_Missense_Mutation_p.E82K	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	82	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GACATTCAAGGAATTACTAAA	0.428000														45			27		0	0	0.005443	0	0
SALL4	57167	broad.mit.edu	37	20	50407061	50407061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:50407061G>A	uc002xwh.4	-	1	2062	c.1961C>T	c.(1960-1962)cCc>cTc	p.P654L	SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	654					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGGCGTGTTGGGAATCTGACC	0.547000														34			25		0	0	0.008361	0	0
ZNF334	55713	broad.mit.edu	37	20	45130666	45130666	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:45130666A>G	uc002xsa.3	-	3	1843	c.1381T>C	c.(1381-1383)Tgt>Cgt	p.C461R	ZNF334_uc002xsb.3_Missense_Mutation_p.C400R|ZNF334_uc002xsd.3_Missense_Mutation_p.C400R|ZNF334_uc002xsc.3_Missense_Mutation_p.C438R|ZNF334_uc010ghl.3_Missense_Mutation_p.C437R			Q9HCZ1	ZN334_HUMAN	Homo sapiens zinc finger protein 334 (ZNF334), transcript variant 2, mRNA.	438					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y461fs*1(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AATTTTCCACATTGACTGCAT	0.373000														109			18		0	0	0.008871	0	0
ATP13A3	79572	broad.mit.edu	37	3	194159595	194159595	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:194159595T>C	uc003fty.4	-	15	2219	c.1817A>G	c.(1816-1818)aAc>aGc	p.N606S	ATP13A3_uc003ftz.1_Missense_Mutation_p.N312S	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	606					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		CATTTCTTGGTTTCCTGCAGG	0.343000														72			7		0	0	0.004482	0	0
SLU7	10569	broad.mit.edu	37	5	159830344	159830344	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:159830344C>G	uc003lyg.3	-	15	1864	c.1709G>C	c.(1708-1710)aGa>aCa	p.R570T		NM_006425	NP_006416	O95391	SLU7_HUMAN	Homo sapiens SLU7 splicing factor homolog (S. cerevisiae) (SLU7), mRNA.	570					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	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)			ACGTTTCATTCTATATGCCTC	0.453000														123			6		0	0	0.001984	0	0
SCRIB	23513	broad.mit.edu	37	8	144895650	144895650	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:144895650A>G	uc003yzp.1	-	4	500	c.493T>C	c.(493-495)Tcc>Ccc	p.S165P	SCRIB_uc003yzo.1_Missense_Mutation_p.S165P|MIR937_uc022bck.1_5'Flank	NM_015356	NP_056171	Q14160	SCRIB_HUMAN	Homo sapiens scribbled homolog (Drosophila) (SCRIB), transcript variant 2, mRNA.	165	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	Scrib-APC-beta-catenin complex|cell-cell adherens junction	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCTGGCAGGGACTTGAGCAGG	0.647000														27			3		0	0	0.000248	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209198163	209198163	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:209198163T>C	uc002vcz.3	+	23	4246	c.4088T>C	c.(4087-4089)aTc>aCc	p.I1363T	PIKFYVE_uc002vcy.1_Missense_Mutation_p.I1307T	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	1363					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GGTCACTCCATCCATCATGAT	0.433000														65			8		0	0	0.006214	0	0
TMEM245	23731	broad.mit.edu	37	9	111798547	111798547	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:111798547A>G	uc004bdt.4	-	15	2370	c.2338T>C	c.(2338-2340)Ttg>Ctg	p.L780L	TMEM245_uc022bln.1_Silent_p.L332L|TMEM245_uc004bds.4_Non-coding_Transcript	NM_032012	NP_114401	Q9H330	CI005_HUMAN	Homo sapiens chromosome 9 open reading frame 5 (C9orf5), mRNA.	780						integral to membrane											TGAAAAATCAACAGTAAAATG	0.443000														25			11		0	0	0.001368	0	0
MARK1	4139	broad.mit.edu	37	1	220825467	220825467	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:220825467G>C	uc009xdw.3	+	14	2308	c.1711G>C	c.(1711-1713)Gac>Cac	p.D571H	MARK1_uc001hmn.4_Missense_Mutation_p.D571H|MARK1_uc010pun.2_Missense_Mutation_p.D571H|MARK1_uc001hmm.4_Missense_Mutation_p.D549H	NM_018650	NP_061120	Q9P0L2	MARK1_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 1 (MARK1), mRNA.	571					intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AACCATTAAAGACGGCTCTGA	0.453000														94			12		0	0	0.002450	0	0
SCN5A	6331	broad.mit.edu	37	3	38592724	38592724	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:38592724C>T	uc021wvo.1	-	26	5191	c.5139G>A	c.(5137-5139)tgG>tgA	p.W1713*	SCN5A_uc021wvk.1_Nonsense_Mutation_p.W1680*|SCN5A_uc021wvl.1_Nonsense_Mutation_p.W1659*|SCN5A_uc021wvm.1_Nonsense_Mutation_p.W1695*|SCN5A_uc021wvn.1_Nonsense_Mutation_p.W1712*|SCN5A_uc021wvp.1_Nonsense_Mutation_p.W1713*|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Nonsense_Mutation_p.W1525*|SCN5A_uc021wvi.1_Nonsense_Mutation_p.W1579*	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1713					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)	GGAGGCCATCCCAGCCGGCCG	0.632000														66			32		0	0	0.001786	0	0
POLK	51426	broad.mit.edu	37	5	74869588	74869588	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:74869588G>C	uc003kdw.3	+	4	530	c.434G>C	c.(433-435)aGa>aCa	p.R145T	POLK_uc003kdx.3_Non-coding_Transcript|POLK_uc003kdy.3_Non-coding_Transcript|POLK_uc003kea.3_Missense_Mutation_p.R145T|POLK_uc003keb.3_Missense_Mutation_p.R145T|POLK_uc010izq.3_Missense_Mutation_p.R145T|POLK_uc003kec.3_Missense_Mutation_p.R55T|POLK_uc010izr.3_Non-coding_Transcript|POLK_uc010izs.3_Non-coding_Transcript|POLK_uc003ked.3_Missense_Mutation_p.R55T|POLK_uc003kee.3_Missense_Mutation_p.R145T	NM_016218	NP_057302	Q9UBT6	POLK_HUMAN	Homo sapiens polymerase (DNA directed) kappa (POLK), mRNA.	145	UmuC.				DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	DNA-directed DNA polymerase activity|damaged DNA binding|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		CATGCAAGGAGATTTGGTGTT	0.393000								DNA polymerases (catalytic subunits)						34			23		0	0	0.003330	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140753987	140753987	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:140753987A>G	uc003ljy.2	+	0	337	c.337A>G	c.(337-339)Aaa>Gaa	p.K113E	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.K113E	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	113	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCGAGGATAAACTGAATCT	0.483000														43			12		0	0	0.001368	0	0
DDX21	9188	broad.mit.edu	37	10	70719939	70719939	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:70719939T>C	uc001jov.1	+	1	555	c.465T>C	c.(463-465)ccT>ccC	p.P155P	DDX21_uc001jow.1_Silent_p.P87P	NM_004728	NP_004719	Q9NR30	DDX21_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 21 (DDX21), mRNA.	155						nucleolus	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						ATGGATTTCCTCATCCTGAAC	0.418000														31			34		0	0	0.005524	0	0
ZNF506	440515	broad.mit.edu	37	19	19905427	19905427	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:19905427T>C	uc010eci.2	-	3	1417	c.1269A>G	c.(1267-1269)aaA>aaG	p.K423K	ZNF506_uc021urk.1_Non-coding_Transcript|ZNF506_uc002noh.3_Silent_p.K391K	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	Homo sapiens zinc finger protein 506 (ZNF506), transcript variant 1, mRNA.	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						CTATGCAGGGTTTCTGTCTAA	0.348000														49			8		0	0	0.004482	0	0
C14orf102	55051	broad.mit.edu	37	14	90769285	90769285	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:90769285G>A	uc001xyi.2	-	5	1423	c.1190C>T	c.(1189-1191)cCc>cTc	p.P397L	C14orf102_uc010atp.1_Intron|C14orf102_uc001xyj.2_Missense_Mutation_p.P166L	NM_017970	NP_060440	Q9H7Z3	CN102_HUMAN	Homo sapiens chromosome 14 open reading frame 102 (C14orf102), mRNA.	397							protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(10)|lung(12)|ovary(5)|prostate(2)|upper_aerodigestive_tract(1)	39		all_cancers(154;0.118)		COAD - Colon adenocarcinoma(157;0.218)		CAGAGTGGAGGGCTCCCAGAA	0.488000														71			26		0	0	0.006320	0	0
CAPN10	11132	broad.mit.edu	37	2	241534534	241534534	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:241534534A>G	uc002vzk.2	+	6	1287	c.1091A>G	c.(1090-1092)aAc>aGc	p.N364S	CAPN10_uc010zoh.2_Missense_Mutation_p.N364S|CAPN10_uc002vzp.2_Non-coding_Transcript|CAPN10_uc002vzm.2_Intron|CAPN10_uc002vzl.2_Missense_Mutation_p.N364S|CAPN10_uc002vzn.2_Missense_Mutation_p.N236S|CAPN10_uc002vzo.2_Non-coding_Transcript|CAPN10_uc010fzg.2_Non-coding_Transcript|CAPN10_uc002vzq.2_Intron	NM_023083	NP_075571	Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 1, mRNA.	364	Domain III 1.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	SNARE binding|calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		TTTCCCAGCAACCCCAAATTC	0.662000														61			11		0	0	0.008291	0	0
IL7R	3575	broad.mit.edu	37	5	35876265	35876265	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:35876265G>A	uc003jjs.3	+	7	1146	c.1057G>A	c.(1057-1059)Gat>Aat	p.D353N	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	353					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			CCCATCTGAGGATGTAGTCAT	0.507000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency							27			18		0	0	0.007413	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37730341	37730341	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:37730341G>A	uc003xkm.2	-	3	2035	c.1979C>T	c.(1978-1980)tCc>tTc	p.S660F	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	660					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TGCTGGAAAGGATGGCTGTTT	0.507000														34			54		0	0	0.003610	0	0
EML2	24139	broad.mit.edu	37	19	46124524	46124524	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:46124524T>C	uc010xxm.2	-	13	1739	c.1666A>G	c.(1666-1668)Acc>Gcc	p.T556A	EML2_uc002pcn.3_Missense_Mutation_p.T355A|EML2_uc002pcp.3_Missense_Mutation_p.T239A|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Missense_Mutation_p.T502A|EML2_uc010xxn.1_Non-coding_Transcript|EML2_uc010xxo.2_Missense_Mutation_p.T355A|EML2_uc010ekj.3_Silent_p.G321G	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	355					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding	p.T556T(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TTGCGGGTGGTCCCCACGTAC	0.627000														33			10		0	0	0.008291	0	0
SFMBT1	51460	broad.mit.edu	37	3	52954617	52954617	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:52954617A>G	uc003dgf.3	-	12	1931	c.1308T>C	c.(1306-1308)gaT>gaC	p.D436D	SFMBT1_uc010hmr.3_Silent_p.D383D|SFMBT1_uc003dgg.3_Silent_p.D436D|SFMBT1_uc003dgh.3_Silent_p.D436D	NM_001005159	NP_057413	Q9UHJ3	SMBT1_HUMAN	Homo sapiens Scm-like with four mbt domains 1 (SFMBT1), transcript variant 1, mRNA.	436					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		AAGGAAATATATCCATGGATT	0.413000														68			15		0	0	0.004990	0	0
TRPM7	54822	broad.mit.edu	37	15	50884349	50884349	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:50884349G>A	uc001zyt.4	-	25	4365	c.4083C>T	c.(4081-4083)tcC>tcT	p.S1361S	TRPM7_uc010bew.2_Silent_p.S1361S	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	1361					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		GTTCTGGAGGGGAAACAGCAC	0.393000														13			11		0	0	0.008291	0	0
BRCA2	675	broad.mit.edu	37	13	32915029	32915029	+	Silent	SNP	T	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:32915029T>G	uc001uub.1	+	10	6764	c.6537T>G	c.(6535-6537)gtT>gtG	p.V2179V		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2179					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ACATTCATGTTTTGGGAAAAG	0.323000			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)				25			6		0	0	0.001168	0	0
NARS	4677	broad.mit.edu	37	18	55273959	55273959	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:55273959A>G	uc002lgs.2	-	9	1254	c.1026T>C	c.(1024-1026)tgT>tgC	p.C342C	NARS_uc010xea.1_Silent_p.C93C	NM_004539	NP_004530	O43776	SYNC_HUMAN	Homo sapiens asparaginyl-tRNA synthetase (NARS), mRNA.	342					asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|asparagine-tRNA ligase activity|nucleic acid binding|protein binding	p.C342C(2)		breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	TCAGGAAAGGACACTCAGCTT	0.473000														100			24		0	0	0.005443	0	0
SLC2A1	6513	broad.mit.edu	37	1	43396814	43396814	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:43396814T>C	uc001cik.2	-	2	703	c.178A>G	c.(178-180)Acg>Gcg	p.T60A		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	60					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	p.T60M(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	GTGGTGAGCGTGGTGGGCAGG	0.592000											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		44			11		0	0	0.003163	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65350678	65350678	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:65350678G>A	uc001oeo.4	+	8	2800	c.2535G>A	c.(2533-2535)gaG>gaA	p.E845E		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.	845	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						AGGAGACAGAGGTCGGGGGTT	0.562000														23			7		0	0	0.003080	0	0
CD164	8763	broad.mit.edu	37	6	109690179	109690179	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:109690179G>A	uc003pte.3	-	5	650	c.469C>T	c.(469-471)Cga>Tga	p.R157*	CD164_uc003ptd.3_Nonsense_Mutation_p.R157*|CD164_uc003ptf.3_Nonsense_Mutation_p.R138*|CD164_uc011eap.2_Intron|CD164_uc010kdn.3_Nonsense_Mutation_p.R144*	NM_006016	NP_006007	Q04900	MUC24_HUMAN	Homo sapiens CD164 molecule, sialomucin (CD164), transcript variant 1, mRNA.	157					hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding			breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		GTAGACTTTCGCACAGGTTGT	0.378000														21			8		0	0	0.003080	0	0
PPL	5493	broad.mit.edu	37	16	4938995	4938995	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:4938995T>C	uc002cyd.1	-	18	2471	c.2381A>G	c.(2380-2382)tAc>tGc	p.Y794C		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	794					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGCTTGCTGGTACTGCTGGGA	0.498000														287			72		0	0	0.003610	0	0
DEFB115	245929	broad.mit.edu	37	20	29847290	29847290	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:29847290G>A	uc002wvp.1	+	1	122	c.122G>A	c.(121-123)gGa>gAa	p.G41E		NM_001037730	NP_001032819	Q30KQ5	DB115_HUMAN	Homo sapiens defensin, beta 115 (DEFB115), mRNA.	41					defense response to bacterium	extracellular region				kidney(1)|lung(3)|ovary(1)|skin(1)	6			Colorectal(19;0.00445)|COAD - Colon adenocarcinoma(19;0.0347)			TGCTATTATGGAACTGGCAGA	0.318000														39			16		0	0	0.004007	0	0
CACNA1G	8913	broad.mit.edu	37	17	48681523	48681523	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:48681523A>G	uc002irk.1	+	21	4549	c.4177A>G	c.(4177-4179)Agc>Ggc	p.S1393G	CACNA1G_uc002iri.1_Missense_Mutation_p.S1393G|CACNA1G_uc002irj.1_Missense_Mutation_p.S1370G|CACNA1G_uc002irl.1_Missense_Mutation_p.S1370G|CACNA1G_uc002irm.1_Missense_Mutation_p.S1370G|CACNA1G_uc002irn.1_Missense_Mutation_p.S1370G|CACNA1G_uc002iro.1_Missense_Mutation_p.S1370G|CACNA1G_uc002irp.1_Missense_Mutation_p.S1393G|CACNA1G_uc002irq.1_Missense_Mutation_p.S1370G|CACNA1G_uc002irr.1_Missense_Mutation_p.S1393G|CACNA1G_uc002irs.1_Missense_Mutation_p.S1393G|CACNA1G_uc002irt.1_Missense_Mutation_p.S1393G|CACNA1G_uc002iru.1_Missense_Mutation_p.S1370G|CACNA1G_uc002irv.1_Missense_Mutation_p.S1393G|CACNA1G_uc002irw.1_Missense_Mutation_p.S1370G|CACNA1G_uc002irx.1_Missense_Mutation_p.S1306G|CACNA1G_uc002iry.1_Missense_Mutation_p.S1306G|CACNA1G_uc002isg.1_Missense_Mutation_p.S1306G|CACNA1G_uc002ish.1_Missense_Mutation_p.S1306G|CACNA1G_uc002isi.1_Missense_Mutation_p.S1283G|CACNA1G_uc002irz.1_Missense_Mutation_p.S1306G|CACNA1G_uc002isa.1_Missense_Mutation_p.S1306G|CACNA1G_uc002isd.1_Missense_Mutation_p.S1306G|CACNA1G_uc002isb.1_Missense_Mutation_p.S1306G|CACNA1G_uc002isc.1_Missense_Mutation_p.S1306G|CACNA1G_uc002ise.1_Missense_Mutation_p.S1306G|CACNA1G_uc002isf.1_Missense_Mutation_p.S1306G|CACNA1G_uc002isj.3_Missense_Mutation_p.S117G	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1393					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGGGTGATCAGCCGGGCGCA	0.602000														32			6		0	0	0.001168	0	0
ODZ4	26011	broad.mit.edu	37	11	78412975	78412975	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:78412975C>T	uc001ozl.4	-	27	5146	c.4683G>A	c.(4681-4683)cgG>cgA	p.R1561R		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1561					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TCCGGATAAACCGAATTCGGA	0.493000														50			16		0	0	0.007413	0	0
SYPL2	284612	broad.mit.edu	37	1	110018237	110018237	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:110018237C>T	uc001dxp.3	+	2	530	c.164C>T	c.(163-165)tCc>tTc	p.S55F	SYPL2_uc001dxo.2_Missense_Mutation_p.S55F|SYPL2_uc010ovk.2_Missense_Mutation_p.S55F|SYPL2_uc001dxq.2_5'Flank	NM_001040709	NP_001035799	Q5VXT5	SYPL2_HUMAN	Homo sapiens synaptophysin-like 2 (SYPL2), mRNA.	55	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		TCCTGTGGCTCCTACAGCGGG	0.532000														142			130		0	0	0.003610	0	0
DOT1L	84444	broad.mit.edu	37	19	2228204	2228204	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:2228204A>G	uc002lvc.1	+	13	3724	c.2957A>G	c.(2956-2958)cAc>cGc	p.H986R	DOT1L_uc002lvb.4_Intron	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	1693						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGGTGCACCACCAGCCCCTG	0.731000														30			6		0	0	0.001984	0	0
LRRFIP1	9208	broad.mit.edu	37	2	238671713	238671713	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:238671713G>C	uc002vxe.3	+	10	1649	c.1357G>C	c.(1357-1359)Gat>Cat	p.D453H	LRRFIP1_uc002vxc.3_Intron|LRRFIP1_uc010znm.2_Intron|LRRFIP1_uc002vxd.3_Missense_Mutation_p.D429H|LRRFIP1_uc002vxf.3_Missense_Mutation_p.D397H	NM_001137552	NP_001131024	Q32MZ4	LRRF1_HUMAN	Homo sapiens leucine rich repeat (in FLII) interacting protein 1 (LRRFIP1), transcript variant 3, mRNA.	453					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|cytoskeleton|nucleus	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGTTTATCATGATGACAAATG	0.498000														78			20		0	0	0.007413	0	0
RNF217	154214	broad.mit.edu	37	6	125404012	125404012	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:125404012T>A	uc003pzr.3	+	5	1387	c.853T>A	c.(853-855)Tta>Ata	p.L285I	RNF217_uc003pzs.3_Missense_Mutation_p.F266Y|RNF217_uc003pzt.3_Non-coding_Transcript			Q8TC41	RN217_HUMAN	Homo sapiens ring finger protein 217 (RNF217), mRNA.	0					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		ATCCCTAGGTTTATTTGTATT	0.333000														7			12		0	0	0.001368	0	0
RTN3	10313	broad.mit.edu	37	11	63487677	63487677	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:63487677A>G	uc001nxq.3	+	2	1890	c.1703A>G	c.(1702-1704)cAg>cGg	p.Q568R	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Missense_Mutation_p.Q456R|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Missense_Mutation_p.Q549R|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	568					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane|extracellular space|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CATCAAGATCAGCCTGATATT	0.418000														83			12		0	0	0.001855	0	0
FNDC1	84624	broad.mit.edu	37	6	159618512	159618512	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:159618512G>A	uc010kjv.3	+	1	359	c.159G>A	c.(157-159)atG>atA	p.M53I	FNDC1_uc010kjw.1_Missense_Mutation_p.M1I	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	53	Fibronectin type-III 1.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCACTAAAATGGGCCTGAAAG	0.453000														42			48		0	0	0.003610	0	0
ERF	2077	broad.mit.edu	37	19	42753179	42753179	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:42753179G>A	uc002ote.4	-	3	1243	c.1085C>T	c.(1084-1086)tCc>tTc	p.S362F	ERF_uc002otd.4_Missense_Mutation_p.S93F	NM_006494	NP_006485	P50548	ERF_HUMAN	Homo sapiens Ets2 repressor factor (ERF), mRNA.	362	Poly-Ser.				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				CGAGGCCGAGGAGGGGACCGG	0.692000														56			10		0	0	0.000978	0	0
KRT79	338785	broad.mit.edu	37	12	53217794	53217794	+	Nonsense_Mutation	SNP	A	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:53217794A>C	uc001sbb.3	-	5	1056	c.1023T>G	c.(1021-1023)taT>taG	p.Y341*	KRT79_uc001sba.3_Nonsense_Mutation_p.Y112*	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	341	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCAGCTCCTCATACTGGGGAC	0.607000														40			5		0	0	0.001168	0	0
RBM19	9904	broad.mit.edu	37	12	114380138	114380139	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:114380138_114380139GG>AA	uc009zwi.2	-	13	1871_1872	c.1727_1728CC>TT	c.(1726-1728)tcc>tTT	p.S576F	RBM19_uc001tvn.4_Missense_Mutation_p.S576F|RBM19_uc001tvm.3_Missense_Mutation_p.S576F	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	576					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	RNA binding|nucleotide binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CCTGGCTGAAGGAATCCAGGCT	0.609000														17			9		0	0	0.004672	0	0
ERCC6L	54821	broad.mit.edu	37	X	71424980	71424980	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:71424980A>G	uc004eaq.1	-	1	3734	c.3637T>C	c.(3637-3639)Tgt>Cgt	p.C1213R	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.C1090R	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	1213					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ATTTTTCCACACTCTTTTAGT	0.418000														24			7		0	0	0.003080	0	0
RABGAP1	23637	broad.mit.edu	37	9	125748640	125748640	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:125748640T>A	uc011lzh.2	+	3	666	c.532T>A	c.(532-534)Tgt>Agt	p.C178S	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc004bnm.1_Missense_Mutation_p.C178S	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	178	PID.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AAGAAGCCAGTGTCAGATTTC	0.423000														49			52		0	0	0.003610	0	0
ANKRD20A9P	284232	broad.mit.edu	37	13	19414170	19414170	+	RNA	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:19414170T>C	uc010tcj.1	-	0		c.31940A>G								Homo sapiens ankyrin repeat domain 20 family, member A9, pseudogene (ANKRD20A9P), non-coding RNA.																		GATTGAACAGTTGGTTCAAGT	0.269000														31			4		0	0	0.006214	0	0
PHF23	79142	broad.mit.edu	37	17	7140086	7140086	+	Splice_Site	SNP	C	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:7140086C>A	uc002gfa.3	-	4	387	c.160_splice	c.e4-1	p.E54_splice	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Intron|PHF23_uc010cma.3_Splice_Site	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	Homo sapiens PHD finger protein 23 (PHF23), mRNA.	54							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						CAGTCACTTTCCTTAAAAGGG	0.562000														55			5		1.23904e-05	2.15563e-05	0.000602	1	0
PHKA2	5256	broad.mit.edu	37	X	18954222	18954222	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chrX:18954222T>C	uc004cyv.4	-	10	1518	c.1088A>G	c.(1087-1089)aAg>aGg	p.K363R		NM_000292	NP_000283	P46019	KPB2_HUMAN	Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA.	363					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GATCCCATTCTTGCCTCTGAT	0.542000														13			4		0	0	0.000248	0	0
LCP2	3937	broad.mit.edu	37	5	169677840	169677840	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:169677840G>A	uc003man.1	-	19	1580	c.1373C>T	c.(1372-1374)cCa>cTa	p.P458L	C5orf58_uc003mal.2_Intron|LCP2_uc011des.1_Missense_Mutation_p.P253L|LCP2_uc011det.1_Missense_Mutation_p.P287L	NM_005565	NP_005556	Q13094	LCP2_HUMAN	Homo sapiens lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa) (LCP2), mRNA.	458	SH2.				T cell receptor signaling pathway|immune response|platelet activation|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		GAGGACATATGGATTGGTTGT	0.378000														30			19		0	0	0.007413	0	0
HNRNPL	3191	broad.mit.edu	37	19	39322081	39322081	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:39322081G>A	uc002oji.3	-	1	213	c.128C>T	c.(127-129)tCc>tTc	p.S43F	HNRNPL_uc010xuk.1_Missense_Mutation_p.S43F|HNRNPL_uc002ojj.1_Missense_Mutation_p.S252F|HNRNPL_uc010ege.1_Intron	NM_001398	NP_001389	P14866	HNRPL_HUMAN	Homo sapiens enoyl CoA hydratase 1, peroxisomal (ECH1), mRNA.	544	Gly-rich.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	RNA binding|nucleotide binding|protein binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GGCTACTCCGGAAGCCTCCTC	0.577000														35			14		0	0	0.003163	0	0
TSEN54	283989	broad.mit.edu	37	17	73520462	73520462	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:73520462A>G	uc002jof.1	+	10	1583	c.1550A>G	c.(1549-1551)gAc>gGc	p.D517G	LLGL2_uc002jog.1_5'Flank|LLGL2_uc010dgf.1_5'Flank|LLGL2_uc002joh.3_5'Flank|LLGL2_uc002joi.3_5'Flank	NM_207346	NP_997229	Q7Z6J9	SEN54_HUMAN	Homo sapiens tRNA splicing endonuclease 54 homolog (S. cerevisiae) (TSEN54), mRNA.	517					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCTTCAGGGACTTCACGTTG	0.582000														73			7		0	0	0.006214	0	0
FOXRED2	80020	broad.mit.edu	37	22	36902055	36902055	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:36902055G>A	uc003apn.4	-	0	523	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C	FOXRED2_uc003apo.4_Missense_Mutation_p.R139C|FOXRED2_uc003app.4_Missense_Mutation_p.R139C	NM_024955	NP_079231	Q8IWF2	FXRD2_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 2 (FOXRED2), transcript variant 1, mRNA.	139					ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TACTGGACACGGAGCCCCAGC	0.627000														44			18		0	0	0.006122	0	0
CENPF	1063	broad.mit.edu	37	1	214826299	214826299	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:214826299T>C	uc001hkm.3	+	15	8463	c.8289T>C	c.(8287-8289)acT>acC	p.T2763T		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	2859	Sufficient for centromere localization.|Sufficient for self-association.				DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGAAAGCTACTACTCAGATTT	0.328000														178			22		0	0	0.002780	0	0
NOBOX	135935	broad.mit.edu	37	7	144098194	144098194	+	Silent	SNP	C	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:144098194C>A	uc022aoj.1	-	3	789	c.789G>T	c.(787-789)ggG>ggT	p.G263G		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	263					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CTTCCGGGGGCCCCTGCTTGT	0.567000														75			10		6.40141e-05	0.000110756	0.000978	1	0
CBLN4	140689	broad.mit.edu	37	20	54575886	54575886	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:54575886A>G	uc002xxa.3	-	1	1094	c.309T>C	c.(307-309)ggT>ggC	p.G103G		NM_080617	NP_542184	Q9NTU7	CBLN4_HUMAN	Homo sapiens cerebellin 4 precursor (CBLN4), mRNA.	103	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			TGAAAAAATTACCCACATTCA	0.318000														55			11		0	0	0.001368	0	0
IDNK	414328	broad.mit.edu	37	9	86256506	86256507	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:86256506_86256507GG>AA	uc004amu.2	+	4	266	c.212_splice	c.e4+1	p.R71_splice	IDNK_uc004amt.2_Splice_Site|IDNK_uc010mpv.2_Splice_Site	NM_001001551	NP_001001551	Q5T6J7	GNTK_HUMAN	Homo sapiens chromosome 9 open reading frame 103 (C9orf103), transcript variant 1, mRNA.	71					carbohydrate metabolic process	cytoplasm	ATP binding|gluconokinase activity|shikimate kinase activity										ATTTTACTAAGGTAAGAGACCA	0.421000														73			30		0	0	0.004672	0	0
TARBP2	6895	broad.mit.edu	37	12	53898559	53898559	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:53898559A>G	uc001sdo.3	+	5	1061	c.573A>G	c.(571-573)gaA>gaG	p.E191E	TARBP2_uc001sdp.3_Silent_p.E170E|TARBP2_uc001sdr.3_Silent_p.E47E|TARBP2_uc001sdt.3_Silent_p.E170E	NM_134323	NP_599151	Q15633	TRBP2_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 2 (TARBP2), transcript variant 1, mRNA.	191	DRBM 2.|Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	RNA-induced silencing complex|cytosol|nucleus|perinuclear region of cytoplasm	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						ACCGCAAAGAATTCACCATGA	0.592000														52			10		0	0	0.000978	0	0
HHIPL2	79802	broad.mit.edu	37	1	222705417	222705417	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:222705417C>T	uc001hnh.1	-	5	1672	c.1614G>A	c.(1612-1614)aaG>aaA	p.K538K		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	538					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCTTCCATTTCTTGTTTTTTC	0.433000														677			153		0	0	0.003610	0	0
CNGB1	1258	broad.mit.edu	37	16	57937785	57937785	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:57937785G>A	uc002emt.2	-	26	2800	c.2735C>T	c.(2734-2736)tCc>tTc	p.S912F	CNGB1_uc010cdh.2_Missense_Mutation_p.S906F	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	912					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GTTCTGCACGGACTTGGGGAT	0.582000														16			12		0	0	0.001855	0	0
SIRT2	22933	broad.mit.edu	37	19	39380777	39380777	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:39380777T>C	uc002ojt.2	-	4	575	c.234A>G	c.(232-234)agA>agG	p.R78R	SIRT2_uc010egi.2_Silent_p.R41R|SIRT2_uc002ojs.2_Silent_p.R58R|SIRT2_uc002oju.2_Silent_p.R41R|SIRT2_uc010egh.2_Silent_p.R41R|SIRT2_uc002ojv.2_Silent_p.R78R	NM_012237	NP_085096	Q8IXJ6	SIRT2_HUMAN	Homo sapiens sirtuin 2 (SIRT2), transcript variant 1, mRNA.	78	Deacetylase sirtuin-type.				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	NAD+ binding|NAD-dependent histone deacetylase activity|histone acetyltransferase binding|histone deacetylase binding|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			AACAGATGACTCTGCGACCTG	0.557000														34			7		0	0	0.001984	0	0
TRH	7200	broad.mit.edu	37	3	129695598	129695598	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:129695598G>A	uc003enc.3	+	2	829	c.268G>A	c.(268-270)Gag>Aag	p.E90K		NM_007117	NP_009048	P20396	TRH_HUMAN	Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.	90					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						AGGCAAAAGAgaggaggagga	0.577000														47			19		0	0	0.006122	0	0
NR1H4	9971	broad.mit.edu	37	12	100926293	100926293	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:100926293A>G	uc001tht.2	+	2	561	c.533A>G	c.(532-534)aAc>aGc	p.N178S	NR1H4_uc001thq.2_Missense_Mutation_p.N168S|NR1H4_uc001thp.2_Missense_Mutation_p.N168S|NR1H4_uc001thr.2_Missense_Mutation_p.N168S|NR1H4_uc010svk.2_Intron|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Missense_Mutation_p.N178S	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	178					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						AACGGGGGCAACTGTGTGATG	0.418000														92			16		0	0	0.004007	0	0
PLCH1	23007	broad.mit.edu	37	3	155200402	155200402	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:155200402C>T	uc021xge.1	-	22	3714	c.3437G>A	c.(3436-3438)cGa>cAa	p.R1146Q	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.R1108Q	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1146					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TGTTGCAGCTCGGCCCTTACC	0.458000														33			13		0	0	0.001855	0	0
POTEE	445582	broad.mit.edu	37	2	132010545	132010545	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:132010545G>A	uc002tsn.2	+	12	1703	c.1651G>A	c.(1651-1653)Gga>Aga	p.G551R	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Missense_Mutation_p.G151R|POTEE_uc002tsl.2_Missense_Mutation_p.G133R|POTEE_uc010fmy.1_Missense_Mutation_p.G15R	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	551							ATP binding										TACTCATGTCGGATTCCCAGA	0.403000														82			25		0	0	0.005443	0	0
ANLN	54443	broad.mit.edu	37	7	36450166	36450166	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:36450166T>C	uc003tff.3	+	5	1344	c.1140T>C	c.(1138-1140)cgT>cgC	p.R380R	ANLN_uc011kaz.2_Silent_p.R292R|ANLN_uc003tfg.3_Silent_p.R380R|ANLN_uc010kxe.3_Silent_p.R380R	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	380	Interaction with F-actin.				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						TTGGAGAGCGTTGTCAAGAAC	0.398000														37			8		0	0	0.004482	0	0
SKAP1	8631	broad.mit.edu	37	17	46423352	46423352	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:46423352C>T	uc002ini.1	-	3	307	c.195G>A	c.(193-195)caG>caA	p.Q65Q	SKAP1_uc002inj.1_Silent_p.Q65Q|SKAP1_uc010dbd.1_5'UTR|SKAP1_uc010dbe.1_Silent_p.Q65Q	NM_003726	NP_003717	Q86WV1	SKAP1_HUMAN	Homo sapiens src kinase associated phosphoprotein 1 (SKAP1), transcript variant 1, mRNA.	65					T cell receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|plasma membrane	SH2 domain binding|antigen binding|protein kinase binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						CAGAGCTGTCCTGTCCAATGT	0.428000														15			11		0	0	0.002450	0	0
PTPRM	5797	broad.mit.edu	37	18	8379253	8379253	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:8379253A>G	uc002knn.4	+	25	4165	c.3662A>G	c.(3661-3663)gAc>gGc	p.D1221G	PTPRM_uc010dkv.3_Missense_Mutation_p.D1234G|PTPRM_uc010wzl.2_Missense_Mutation_p.D1008G	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	1221	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	p.M1220V(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CGGTGCATGGACATCCTGCCC	0.577000														33			6		0	0	0.004482	0	0
COL4A1	1282	broad.mit.edu	37	13	110823081	110823081	+	Splice_Site	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:110823081T>C	uc001vqw.4	-	42	3679	c.3557_splice	c.e42-1	p.G1186_splice		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1186	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTTTGAACCTGAACAAGAAA	0.557000														45			12		0	0	0.002450	0	0
GOLGA2P5	55592	broad.mit.edu	37	12	100564720	100564720	+	RNA	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:100564720A>G	uc021rcm.1	-	1		c.278T>C			GOLGA2P5_uc001tgz.4_Non-coding_Transcript					Homo sapiens golgin A2 pseudogene 5 (GOLGA2P5), transcript variant 1, non-coding RNA.																		CTCACCTGTAACTGCTCCCTT	0.478000														80			13		0	0	0.002450	0	0
UBA2	10054	broad.mit.edu	37	19	34959991	34959991	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:34959991T>C	uc002nvk.3	+	16	1858	c.1788T>C	c.(1786-1788)gaT>gaC	p.D596D	UBA2_uc002nvl.3_Silent_p.D500D	NM_005499	NP_005490	Q9UBT2	SAE2_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 2 (UBA2), mRNA.	596					protein sumoylation	nucleus	ATP binding|SUMO activating enzyme activity|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATGAAGAAGATTCTTCAAATA	0.398000														20			4		0	0	0.000248	0	0
EHMT1	79813	broad.mit.edu	37	9	140638373	140638373	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:140638373C>T	uc011mfc.2	+	5	1038	c.1001C>T	c.(1000-1002)gCc>gTc	p.A334V	EHMT1_uc004coa.3_Missense_Mutation_p.A334V|EHMT1_uc004cob.1_Missense_Mutation_p.A303V	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	334					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GACCTGGGCGCCAGCAGCCTG	0.602000														15			10		0	0	0.006214	0	0
FAM129B	64855	broad.mit.edu	37	9	130270409	130270409	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:130270409G>A	uc004brh.3	-	11	1707	c.1505C>T	c.(1504-1506)cCg>cTg	p.P502L	FAM129B_uc004bri.3_Missense_Mutation_p.P489L|FAM129B_uc004brj.4_Missense_Mutation_p.P502L	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	502							protein binding	p.P502P(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GAGCAGGAACGGGATGCTGAT	0.632000														46			21		0	0	0.003954	0	0
NCAPH	23397	broad.mit.edu	37	2	97030289	97030289	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:97030289A>G	uc002svz.1	+	12	1742	c.1658A>G	c.(1657-1659)aAc>aGc	p.N553S	NCAPH_uc010fhv.1_Missense_Mutation_p.N542S|NCAPH_uc010yum.1_Missense_Mutation_p.N529S|NCAPH_uc010yun.1_Missense_Mutation_p.N417S	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	553					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TATGATTACAACAACCCTAAC	0.443000														34			10		0	0	0.001368	0	0
EMR1	2015	broad.mit.edu	37	19	6913831	6913832	+	Missense_Mutation	DNP	GG	AA	AA	rs141986863	byFrequency	TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:6913831_6913832GG>AA	uc002mfw.3	+	10	1328_1329	c.1290_1291GG>AA	c.(1288-1293)acggaa>acAAaa	p.E431K	EMR1_uc010dvc.3_Missense_Mutation_p.E431K|EMR1_uc010dvb.3_Missense_Mutation_p.E379K|EMR1_uc010xji.2_Missense_Mutation_p.E290K|EMR1_uc010xjj.2_Missense_Mutation_p.E254K	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	431	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTGTTCGGACGGAATACTTAGG	0.500000														95			16		0	0	0.004672	0	0
POLQ	10721	broad.mit.edu	37	3	121263622	121263622	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:121263622A>G	uc003eee.4	-	1	424	c.295T>C	c.(295-297)Tgc>Cgc	p.C99R		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	99					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA-directed DNA polymerase activity|damaged DNA binding|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGCAAAAGGCACTCTGCCTGC	0.348000								DNA polymerases (catalytic subunits)						43			21		0	0	0.002780	0	0
FGF18	8817	broad.mit.edu	37	5	170863160	170863160	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:170863160G>A	uc003mbk.3	+	2	670	c.133G>A	c.(133-135)Gac>Aac	p.D45N		NM_003862	NP_003853	O76093	FGF18_HUMAN	Homo sapiens fibroblast growth factor 18 (FGF18), mRNA.	45					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	p.R44R(1)		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)			GCGGGCTCGGGACGATGTGAG	0.632000														12			10		0	0	0.000978	0	0
TCF20	6942	broad.mit.edu	37	22	42609176	42609176	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:42609176A>G	uc003bcj.1	-	0	2270	c.2136T>C	c.(2134-2136)agT>agC	p.S712S	TCF20_uc003bck.1_Silent_p.S712S	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	712					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGACCCGAAACTATCTTTGT	0.517000														155			25		0	0	0.003954	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68229414	68229414	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:68229414G>T	uc001xka.2	-	32	6273	c.6134C>A	c.(6133-6135)gCc>gAc	p.A2045D	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkb.3_5'Flank|ZFYVE26_uc001xkc.4_Missense_Mutation_p.A2045D	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	2045					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GTAGTACTCGGCTTCCAAAAG	0.488000														55			20		3.01185e-09	5.2632e-09	0.003954	1	0
FNDC3A	22862	broad.mit.edu	37	13	49742751	49742751	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:49742751T>C	uc001vcm.3	+	9	1345	c.1040T>C	c.(1039-1041)gTc>gCc	p.V347A	FNDC3A_uc001vcn.3_Missense_Mutation_p.V347A|FNDC3A_uc001vco.3_Non-coding_Transcript|FNDC3A_uc001vcp.1_Missense_Mutation_p.V291A|FNDC3A_uc001vcq.3_Missense_Mutation_p.V291A	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	Homo sapiens fibronectin type III domain containing 3A (FNDC3A), transcript variant 1, mRNA.	347	Fibronectin type-III 1.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CACCATAGAGTCCAGGCAGAA	0.383000														52			8		0	0	0.004482	0	0
LTB4R	1241	broad.mit.edu	37	14	24785181	24785181	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:24785181C>T	uc001wou.3	+	1	656	c.324C>T	c.(322-324)atC>atT	p.I108I	LTB4R_uc001wos.3_Silent_p.I108I|LTB4R_uc010alp.3_Silent_p.I108I|LTB4R_uc021rrq.1_Silent_p.I108I	NM_181657	NP_858043	Q15722	LT4R1_HUMAN	Homo sapiens leukotriene B4 receptor (LTB4R), transcript variant 1, mRNA.	108					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		TCCTGCTTATCACGGCCATGA	0.622000														28			21		0	0	0.001523	0	0
TMX3	54495	broad.mit.edu	37	18	66354936	66354936	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:66354936T>C	uc002lkf.3	-	9	839	c.704A>G	c.(703-705)gAt>gGt	p.D235G	TMX3_uc010xez.2_Missense_Mutation_p.D94G	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 3 (TMX3), mRNA.	235					cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						GAGGAAGCCATCCATAGCAAG	0.338000														130			19		0	0	0.001882	0	0
NOP56	10528	broad.mit.edu	37	20	2636679	2636679	+	Splice_Site	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:2636679A>G	uc002wgh.3	+	8	1139	c.1010_splice	c.e8+1	p.R337_splice	NOP56_uc010zpy.2_Non-coding_Transcript|NOP56_uc002wgi.3_Splice_Site_p.R171_splice	NM_006392	NP_006383	O00567	NOP56_HUMAN	Homo sapiens NOP56 ribonucleoprotein homolog (yeast) (NOP56), transcript variant 1, mRNA.	337	Nop.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GGCCCTGTTCAGGTACCAGTG	0.592000														30			7		0	0	0.003080	0	0
ACP6	51205	broad.mit.edu	37	1	147131117	147131117	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:147131117T>C	uc001epr.2	-	3	981	c.517A>G	c.(517-519)Acc>Gcc	p.T173A	ACP6_uc009wjj.1_Missense_Mutation_p.T130A	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.	173					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					AAACAACGGGTGGACTCCAGA	0.418000														113			21		0	0	0.001882	0	0
NUP210	23225	broad.mit.edu	37	3	13371985	13371985	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:13371985T>C	uc003bxv.1	-	29	4168	c.4085A>G	c.(4084-4086)aAc>aGc	p.N1362S		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1362					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)					GATGGTTTGGTTGGCCCCAAA	0.453000														141			73		0	0	0.003610	0	0
OBFC2B	79035	broad.mit.edu	37	12	56622968	56622968	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:56622968A>G	uc001skk.3	+	5	741	c.682A>G	c.(682-684)Aaa>Gaa	p.K228E	OBFC2B_uc001ski.3_Missense_Mutation_p.K203E	NM_024068	NP_076973	Q9BQ15	SOSB1_HUMAN	Homo sapiens oligonucleotide/oligosaccharide-binding fold containing 2B (OBFC2B), mRNA.	203					G2/M transition checkpoint|double-strand break repair via homologous recombination|response to ionizing radiation	SOSS complex	protein binding|single-stranded DNA binding			endometrium(1)|lung(1)|ovary(1)|skin(2)	5						TAGTAACGGCAAAGAAACCCG	0.577000								Other identified genes with known or suspected DNA repair function						52			19		0	0	0.003954	0	0
POMT2	29954	broad.mit.edu	37	14	77751909	77751909	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:77751909T>C	uc001xti.2	-	12	1600	c.1399A>G	c.(1399-1401)Atc>Gtc	p.I467V	POMT2_uc001xth.1_Missense_Mutation_p.I165V	NM_013382	NP_037514	Q9UKY4	POMT2_HUMAN	Homo sapiens protein-O-mannosyltransferase 2 (POMT2), mRNA.	467	MIR 3.				protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		AGCACTTTGATCCGGTTTCCA	0.453000														424			94		0	0	0.003610	0	0
NCOR2	9612	broad.mit.edu	37	12	124911290	124911290	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:124911290A>G	uc021rga.1	-	10	1323	c.1206T>C	c.(1204-1206)gcT>gcC	p.A402A	NCOR2_uc021rgb.1_Silent_p.A402A|NCOR2_uc010tbb.2_Silent_p.A402A|NCOR2_uc010tbc.2_Silent_p.A401A|NCOR2_uc021rgc.1_Silent_p.A401A|NCOR2_uc010tba.2_Silent_p.A402A|NCOR2_uc001ugj.1_Silent_p.A402A|NCOR2_uc001ugk.1_Silent_p.A402A	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	402					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|Notch binding|histone deacetylase binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCTGCTGGTCAGCGTCGTACA	0.597000														70			16		0	0	0.006122	0	0
GAS6	2621	broad.mit.edu	37	13	114542734	114542734	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:114542734T>C	uc001vud.3	-	4	586	c.433A>G	c.(433-435)Aaa>Gaa	p.K145E	FLJ41484_uc010tki.2_5'Flank	NM_000820	NP_001137417	Q14393	GAS6_HUMAN	Homo sapiens growth arrest-specific 6 (GAS6), transcript variant 1, mRNA.	145	EGF-like 1; calcium-binding (Potential).				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	Golgi lumen|endoplasmic reticulum lumen|extracellular space|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CAGCCAGCTTTACACAGGCAG	0.632000														92			27		0	0	0.002445	0	0
OR51T1	401665	broad.mit.edu	37	11	4903778	4903778	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:4903778C>T	uc010qyp.2	+	0	730	c.730C>T	c.(730-732)Ctt>Ttt	p.L244F		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATTGTTTATTCTTTTCTCCTA	0.448000														27			29		0	0	0.008361	0	0
BCAS3	54828	broad.mit.edu	37	17	58756885	58756885	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:58756885C>T	uc002iyv.4	+	1	176	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	BCAS3_uc010wow.1_Missense_Mutation_p.R19C|BCAS3_uc002iyu.4_Missense_Mutation_p.R23C|BCAS3_uc002iyw.4_Missense_Mutation_p.R19C	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	23						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AGTTGTGGTTCGCCCCCAGGC	0.403000														184			114		0	0	0.003610	0	0
C14orf21	161424	broad.mit.edu	37	14	24772344	24772344	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:24772344G>T	uc001wol.1	+	5	1271	c.1208G>T	c.(1207-1209)gGg>gTg	p.G403V	C14orf21_uc001wom.1_5'UTR	NM_174913	NP_777573	Q86U38	CN021_HUMAN	Homo sapiens chromosome 14 open reading frame 21 (C14orf21), mRNA.	403							RNA binding			breast(3)|central_nervous_system(2)|large_intestine(3)|liver(1)|lung(3)|prostate(2)|skin(3)	17				GBM - Glioblastoma multiforme(265;0.0185)		GGCCACCCAGGGGTAGTCATT	0.557000														76			6		0.00116845	0.00201055	0.001168	1	0
TPR	7175	broad.mit.edu	37	1	186291519	186291519	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:186291519T>C	uc001grv.3	-	44	6689	c.6392A>G	c.(6391-6393)gAc>gGc	p.D2131G	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	2131					carbohydrate metabolic process|glucose transport|mRNA transport|mitotic cell cycle spindle assembly checkpoint|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity	p.P2130Q(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		AACTGTTCTGTCTTCATCATC	0.338000			T	NTRK1	papillary thyroid									55			12		0	0	0.001855	0	0
PPL	5493	broad.mit.edu	37	16	4933858	4933858	+	Missense_Mutation	SNP	T	C	C	rs111733714		TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:4933858T>C	uc002cyd.1	-	21	4888	c.4798A>G	c.(4798-4800)Acc>Gcc	p.T1600A		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	1600					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TCCGCCACGGTCATGTTCCGC	0.557000														69			20		0	0	0.001882	0	0
CDH7	1005	broad.mit.edu	37	18	63547870	63547870	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr18:63547870A>C	uc002lkb.3	+	11	2524	c.2098A>C	c.(2098-2100)Agc>Cgc	p.S700R	CDH7_uc002ljz.3_Missense_Mutation_p.S700R	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	700					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AGCTTTTAAAAGCATCCCAGA	0.453000														64			18		0	0	0.007413	0	0
LHCGR	3973	broad.mit.edu	37	2	48915078	48915078	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:48915078G>A	uc002rwu.4	-	10	1928	c.1858C>T	c.(1858-1860)Cca>Tca	p.P620S	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	620					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TACAGAAATGGATTGGCACAA	0.368000														72			43		0	0	0.003214	0	0
ZNF669	79862	broad.mit.edu	37	1	247264023	247264023	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:247264023G>A	uc001ice.2	-	3	1221	c.1048C>T	c.(1048-1050)Cgt>Tgt	p.R350C	ZNF669_uc001icf.2_Missense_Mutation_p.R264C	NM_024804	NP_079080	Q96BR6	ZN669_HUMAN	Homo sapiens zinc finger protein 669 (ZNF669), transcript variant 1, mRNA.	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			CCATGGTAACGAAGGGAAGTG	0.408000														162			22		0	0	0.002780	0	0
C3orf56	285311	broad.mit.edu	37	3	126916169	126916169	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:126916169C>T	uc003eji.1	+	1	881	c.641C>T	c.(640-642)cCc>cTc	p.P214L						RecName: Full=Putative uncharacterized protein C3orf56;											breast(1)|endometrium(2)|kidney(1)|lung(5)	9				GBM - Glioblastoma multiforme(114;0.142)		CCCCCTTCCCCCATTGAAGAT	0.632000														9			7		0	0	0.004482	0	0
C14orf49	161176	broad.mit.edu	37	14	95906000	95906000	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:95906000T>C	uc001yei.4	-	11	2210	c.2195A>G	c.(2194-2196)gAg>gGg	p.E732G	C14orf49_uc010avi.3_Missense_Mutation_p.E732G	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	732					cytoskeletal anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear outer membrane	actin binding	p.E732Q(1)		breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CTCTGCCAGCTCCCTGAGCTC	0.637000														42			11		0	0	0.001855	0	0
DPPA5	340168	broad.mit.edu	37	6	74063664	74063664	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:74063664G>A	uc003pgs.2	-	1	255	c.204C>T	c.(202-204)gtC>gtT	p.V68V		NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN	Homo sapiens developmental pluripotency associated 5 (DPPA5), mRNA.	68	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						CGTAAACCACGACCTCGGTGA	0.607000														39			18		0	0	0.008871	0	0
IFT81	28981	broad.mit.edu	37	12	110600794	110600794	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:110600794G>A	uc001tqi.3	+	10	1242	c.1112G>A	c.(1111-1113)aGc>aAc	p.S371N	IFT81_uc001tqh.3_Missense_Mutation_p.S371N|IFT81_uc001tqj.3_Non-coding_Transcript|IFT81_uc001tqg.3_Missense_Mutation_p.S371N	NM_001143779	NP_054774	Q8WYA0	IFT81_HUMAN	Homo sapiens intraflagellar transport 81 homolog (Chlamydomonas) (IFT81), transcript variant 3, mRNA.	371					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						AAGTTAGCCAGCCTAGAGAGA	0.423000														55			8		0	0	0.003080	0	0
KIAA0513	9764	broad.mit.edu	37	16	85105396	85105396	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:85105396T>C	uc002fiu.3	+	2	557	c.337T>C	c.(337-339)Ttg>Ctg	p.L113L	KIAA0513_uc010voj.2_Silent_p.L113L|KIAA0513_uc002fit.3_Silent_p.L113L	NM_014732	NP_055547	O60268	K0513_HUMAN	Homo sapiens KIAA0513 (KIAA0513), mRNA.	113						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		tAGGGAGGACTTGGATCAGGA	0.463000														21			4		0	0	0.000248	0	0
ARMC7	79637	broad.mit.edu	37	17	73125021	73125021	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:73125021T>G	uc002jmw.1	+	2	787	c.485T>G	c.(484-486)aTc>aGc	p.I162S	ARMC7_uc010wru.1_3'UTR|ARMC7_uc010dga.1_Non-coding_Transcript	NM_024585	NP_078861	Q9H6L4	ARMC7_HUMAN	Homo sapiens armadillo repeat containing 7 (ARMC7), mRNA.	162							binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			CTGGCACAGATCTTCCTGGAG	0.701000														21			3		0	0	0.004672	0	0
SNW1	22938	broad.mit.edu	37	14	78201324	78201324	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:78201324A>C	uc010tvn.1	-	7	767	c.740T>G	c.(739-741)aTt>aGt	p.I247S	SNW1_uc001xuf.3_Missense_Mutation_p.I247S|SNW1_uc010tvm.2_Missense_Mutation_p.I172S			Q13573	SNW1_HUMAN	Homo sapiens SNW domain containing 1 (SNW1), mRNA.	247	SNW.				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ACAAGGAGGAATCTTCCACTC	0.328000														135			24		0	0	0.002780	0	0
IFT122	55764	broad.mit.edu	37	3	129221661	129221661	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:129221661A>G	uc003eml.3	+	20	2842	c.2636A>G	c.(2635-2637)tAc>tGc	p.Y879C	IFT122_uc003emm.3_Missense_Mutation_p.Y828C|IFT122_uc003emn.3_Missense_Mutation_p.Y769C|IFT122_uc003emo.3_Missense_Mutation_p.Y717C|IFT122_uc003emp.3_Missense_Mutation_p.Y678C|IFT122_uc010htc.3_Missense_Mutation_p.Y820C|IFT122_uc011bky.2_Missense_Mutation_p.Y619C|IFT122_uc011bla.2_Missense_Mutation_p.Y601C|IFT122_uc003emr.3_Missense_Mutation_p.Y580C|IFT122_uc010hte.3_Missense_Mutation_p.Y154C|IFT122_uc003ems.3_Missense_Mutation_p.Y209C|IFT122_uc011bkx.1_Missense_Mutation_p.Y668C|IFT122_uc010htd.1_Missense_Mutation_p.Y307C	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	828					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GCTGAGACCTACCTGAAGATG	0.632000														35			25		0	0	0.003954	0	0
GMEB2	26205	broad.mit.edu	37	20	62222007	62222007	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:62222007A>G	uc002yfp.1	-	8	1507	c.1028T>C	c.(1027-1029)gTg>gCg	p.V343A	GMEB2_uc002yfo.1_Missense_Mutation_p.V265A|GMEB2_uc002yfq.1_Missense_Mutation_p.V343A	NM_012384	NP_036516	Q9UKD1	GMEB2_HUMAN	Homo sapiens glucocorticoid modulatory element binding protein 2 (GMEB2), mRNA.	343					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	18	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;4.79e-09)|all cancers(9;2.76e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.0114)			CGTCATGAGCACGTTGCTGAG	0.652000														21			7		0	0	0.001984	0	0
COL22A1	169044	broad.mit.edu	37	8	139703075	139703075	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:139703075G>A	uc003yvd.3	-	35	3244	c.2797C>T	c.(2797-2799)Cca>Tca	p.P933S	COL22A1_uc011ljo.2_Missense_Mutation_p.P233S	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	933	Collagen-like 8.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACACTTCCTGGAGGGCCACTG	0.557000										HNSCC(7;0.00092)				22			8		0	0	0.004482	0	0
SF3B3	23450	broad.mit.edu	37	16	70595631	70595631	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr16:70595631T>C	uc002ezf.3	+	16	2443	c.2232T>C	c.(2230-2232)ggT>ggC	p.G744G		NM_012426	NP_036558	Q15393	SF3B3_HUMAN	Homo sapiens splicing factor 3b, subunit 3, 130kDa (SF3B3), mRNA.	744					protein complex assembly	U12-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|protein binding	p.S743S(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				TTGCATCGGGTTTTGCCTCGG	0.522000														92			17		0	0	0.004990	0	0
CCT3	7203	broad.mit.edu	37	1	156281870	156281870	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:156281870T>C	uc001fol.2	-	10	1348	c.1117A>G	c.(1117-1119)Acc>Gcc	p.T373A	CCT3_uc010phj.2_Missense_Mutation_p.T327A|CCT3_uc010phk.2_Missense_Mutation_p.T327A|CCT3_uc001fon.2_Missense_Mutation_p.T335A|CCT3_uc010phl.2_Missense_Mutation_p.T327A	NM_005998	NP_005989	P49368	TCPG_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 3 (gamma) (CCT3), transcript variant 1, mRNA.	373					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					AGGAGAATGGTGCAGGCCTTG	0.468000														51			27		0	0	0.003755	0	0
ZC3H10	84872	broad.mit.edu	37	12	56514649	56514649	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr12:56514649T>C	uc001sjp.1	+	2	492	c.303T>C	c.(301-303)gaT>gaC	p.D101D	ZC3H10_uc021qyw.1_Silent_p.D101D	NM_032786	NP_116175	Q96K80	ZC3HA_HUMAN	Homo sapiens zinc finger CCCH-type containing 10 (ZC3H10), mRNA.	101							nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			CCAAGGAGGATGAGGATGGCT	0.537000														91			17		0	0	0.007413	0	0
ITPRIP	85450	broad.mit.edu	37	10	106074717	106074717	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:106074717G>A	uc001kyf.3	-	2	1546	c.1093C>T	c.(1093-1095)Ctt>Ttt	p.L365F	ITPRIP_uc001kye.3_Missense_Mutation_p.L365F|ITPRIP_uc001kyg.3_Missense_Mutation_p.L365F|ITPRIP_uc021pxv.1_Missense_Mutation_p.L365F	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	365						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TCCCTGGGAAGGTGGGAGACA	0.562000														34			48		0	0	0.003610	0	0
PRDM14	63978	broad.mit.edu	37	8	70970971	70970971	+	Silent	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr8:70970971C>T	uc003xym.3	-	5	1492	c.1290G>A	c.(1288-1290)agG>agA	p.R430R		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGGGAAATTTCCTATCGCCCT	0.478000														59			21		0	0	0.002780	0	0
POTEH	23784	broad.mit.edu	37	22	16267081	16267081	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:16267081C>T	uc010gqp.2	-	8	1420	c.1368G>A	c.(1366-1368)atG>atA	p.M456I	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Missense_Mutation_p.M175I|POTEH_uc002zlj.1_Missense_Mutation_p.M291I	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	456										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CGTGCTTCTTCATTTCTTCTT	0.358000														393			27		0	0	0.004878	0	0
DMXL2	23312	broad.mit.edu	37	15	51790919	51790919	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:51790919T>C	uc010ufy.2	-	17	4727	c.4502A>G	c.(4501-4503)tAt>tGt	p.Y1501C	DMXL2_uc002abf.3_Missense_Mutation_p.Y1501C|DMXL2_uc010bfa.3_Intron	NM_001174116	NP_001167587	Q8TDJ6	DMXL2_HUMAN	Homo sapiens Dmx-like 2 (DMXL2), transcript variant 1, mRNA.	1501						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)		AGCTGGTCCATATTGAGAAAG	0.388000														45			14		0	0	0.001855	0	0
HCP5	10866	broad.mit.edu	37	6	31431776	31431776	+	RNA	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:31431776C>T	uc003ntl.3	+	1		c.729C>T			HCP5_uc021yup.1_Non-coding_Transcript			Q6MZN7	HCP5_HUMAN	Homo sapiens HLA complex P5 (non-protein coding) (HCP5), non-coding RNA.						defense response					urinary_tract(1)	1						gtccaattcccctgtggcagc	0.532000														77			37		0	0	0.005524	0	0
FCER1A	2205	broad.mit.edu	37	1	159273870	159273870	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr1:159273870A>C	uc001ftq.3	+	3	326	c.229A>C	c.(229-231)Agt>Cgt	p.S77R		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	77	Ig-like 1.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	GACAAATTCAAGTTTGAATAT	0.393000														98			15		0	0	0.003163	0	0
LTBP4	8425	broad.mit.edu	37	19	41125251	41125251	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:41125251G>A	uc002ooh.1	+	26	3269	c.3269_splice	c.e26-1	p.D1090_splice	LTBP4_uc002oog.1_Splice_Site_p.D1053_splice|LTBP4_uc002ooi.1_Splice_Site_p.D1023_splice|LTBP4_uc002ooj.1_Splice_Site|LTBP4_uc002ook.1_Splice_Site_p.D225_splice|LTBP4_uc002ool.1_Splice_Site_p.D103_splice|LTBP4_uc002oom.1_Splice_Site|LTBP4_uc010xvp.1_Splice_Site	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	1091	Cys-rich.|EGF-like 12; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTGCTTACAGATGTGAACGA	0.468000														81			38		0	0	0.002852	0	0
SH2D7	646892	broad.mit.edu	37	15	78393753	78393753	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr15:78393753G>A	uc010blb.1	+	4	1158	c.1158G>A	c.(1156-1158)agG>agA	p.R386R		NM_001101404	NP_001094874	A6NKC9	SH2D7_HUMAN	Homo sapiens SH2 domain containing 7 (SH2D7), mRNA.	386										endometrium(2)|kidney(2)|lung(3)	7						GCCCAGCCAGGGCCCCACATC	0.612000														11			8		0	0	0.004482	0	0
CD97	976	broad.mit.edu	37	19	14512300	14512300	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:14512300C>T	uc002myl.3	+	9	1380	c.1000C>T	c.(1000-1002)Ctt>Ttt	p.L334F	CD97_uc002mym.3_Missense_Mutation_p.L285F|CD97_uc002myn.3_Missense_Mutation_p.L241F	NM_078481	NP_510966	P48960	CD97_HUMAN	Homo sapiens CD97 molecule (CD97), transcript variant 1, mRNA.	334					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCTCTCAAACCTTGAAGATAT	0.567000														35			15		0	0	0.006122	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702556	27702556	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr10:27702556G>A	uc001itu.2	-	0	742	c.624C>T	c.(622-624)ttC>ttT	p.F208F		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	208					spermatid development	integral to membrane	hedgehog receptor activity	p.F208F(2)		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						GAAGCGAGACGAAATTGGCTT	0.632000														33			45		0	0	0.003610	0	0
ZNF652	22834	broad.mit.edu	37	17	47376209	47376209	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:47376209G>A	uc002iov.4	-	5	1851	c.1387C>T	c.(1387-1389)Cac>Tac	p.H463Y	ZNF652_uc002iow.3_Missense_Mutation_p.H463Y|ZNF652_uc002iou.4_Non-coding_Transcript	NM_001145365	NP_055712	Q9Y2D9	ZN652_HUMAN	Homo sapiens zinc finger protein 652 (ZNF652), transcript variant 1, mRNA.	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TCGCCTGTGTGAGTTCTGCGG	0.512000														27			14		0	0	0.003163	0	0
IGHMBP2	3508	broad.mit.edu	37	11	68703912	68703912	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:68703912A>G	uc001ook.1	+	12	2066	c.1964A>G	c.(1963-1965)aAc>aGc	p.N655S	IGHMBP2_uc001ool.1_Missense_Mutation_p.N279S|IGHMBP2_uc001oom.1_Missense_Mutation_p.N233S	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	655					DNA recombination|DNA repair|DNA replication|cell death|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|tRNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TCCCATGAGAACTCCCAGGGT	0.572000														56			11		0	0	0.001368	0	0
BPTF	2186	broad.mit.edu	37	17	65890239	65890239	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:65890239T>C	uc002jgf.3	+	6	2562	c.2501T>C	c.(2500-2502)gTt>gCt	p.V834A	BPTF_uc002jge.3_Missense_Mutation_p.V960A|BPTF_uc010wqm.1_Missense_Mutation_p.V897A	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	960					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	NURF complex|cytoplasm	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTTAAACCAGTTGTGATGCTA	0.403000														93			19		0	0	0.008871	0	0
BNIP1	662	broad.mit.edu	37	5	172585810	172585810	+	Silent	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:172585810A>G	uc003mci.4	+	4	566	c.462A>G	c.(460-462)aaA>aaG	p.K154K	BNIP1_uc003mcj.4_Silent_p.K111K|BNIP1_uc003mck.4_Intron|BNIP1_uc003mcl.4_Intron|BNIP1_uc021yhw.1_Silent_p.K24K	NM_013979	NP_053582	Q12981	SEC20_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 1 (BNIP1), transcript variant BNIP1-b, mRNA.	111					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	SNARE complex|integral to endoplasmic reticulum membrane|nuclear envelope	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ATCTAGAGAAAGCAGAACTTC	0.428000														34			11		0	0	0.000978	0	0
TCTE1	202500	broad.mit.edu	37	6	44255286	44255286	+	Splice_Site	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:44255286T>C	uc003oxi.2	-	2	433	c.277_splice	c.e2+1	p.K93_splice	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	93										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACAGACTCACTCTGGAAGTTC	0.597000														42			6		0	0	0.001168	0	0
CCBL1	883	broad.mit.edu	37	9	131598135	131598136	+	Silent	DNP	GG	AA	AA			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:131598135_131598136GG>AA	uc004bwh.3	-	8	962_963	c.777_778CC>TT	c.(775-780)gtcctg>gtTTtg	p.259_260VL>VL	CCBL1_uc004bwg.3_Non-coding_Transcript|CCBL1_uc010myn.3_Silent_p.259_260VL>VL|CCBL1_uc004bwj.3_Silent_p.209_210VL>VL|CCBL1_uc004bwi.3_Non-coding_Transcript|CCBL1_uc011mbl.2_Silent_p.353_354VL>VL	NM_004059	NP_004050	Q16773	KAT1_HUMAN	Homo sapiens cysteine conjugate-beta lyase, cytoplasmic (CCBL1), transcript variant 1, mRNA.	259					L-phenylalanine catabolic process|kynurenine metabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	TCTGGACCCAGGACCCAGCCCA	0.619000														16			4		0	0	0.004672	0	0
ABCB11	8647	broad.mit.edu	37	2	169814520	169814520	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:169814520C>T	uc002ueo.1	-	18	2423	c.2297G>A	c.(2296-2298)gGg>gAg	p.G766E	ABCB11_uc010zda.1_Missense_Mutation_p.G208E|ABCB11_uc010zdb.1_Missense_Mutation_p.G242E	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	766	ABC transmembrane type-1 2.				bile acid biosynthetic process	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TGTGACTGTCCCGTTCACAGC	0.458000														31			15		0	0	0.002450	0	0
VIT	5212	broad.mit.edu	37	2	36943526	36943526	+	Missense_Mutation	SNP	G	C	C	rs148935502		TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:36943526G>C	uc002rpl.3	+	1	315	c.13G>C	c.(13-15)Gtt>Ctt	p.V5L	VIT_uc002rpk.3_Missense_Mutation_p.V5L|VIT_uc010ynf.2_5'UTR|VIT_uc002rpm.3_Missense_Mutation_p.V5L|VIT_uc010ezv.3_Missense_Mutation_p.V5L|VIT_uc010ezw.3_Missense_Mutation_p.V5L	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	5						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GAGGACTGTTGTTCTCACTAT	0.368000														73			12		0	0	0.001368	0	0
CIAO1	9391	broad.mit.edu	37	2	96937022	96937022	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:96937022T>C	uc002svs.3	+	6	1158	c.953T>C	c.(952-954)cTa>cCa	p.L318P		NM_004804	NP_004795	O76071	CIAO1_HUMAN	Homo sapiens cytosolic iron-sulfur protein assembly 1 (CIAO1), mRNA.	318					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						GAGCCAGGGCTACTGGCCTCC	0.592000														45			13		0	0	0.003163	0	0
USP20	10868	broad.mit.edu	37	9	132632009	132632009	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:132632009A>G	uc004bys.2	+	13	1662	c.1451A>G	c.(1450-1452)gAc>gGc	p.D484G	USP20_uc004byr.2_Missense_Mutation_p.D484G|USP20_uc004byt.1_Missense_Mutation_p.D484G	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	484					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	G-protein-coupled receptor binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GGAAAGGAGGACCTGGCCAAG	0.587000														76			12		0	0	0.003163	0	0
POTEH	23784	broad.mit.edu	37	22	16267094	16267094	+	Splice_Site	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr22:16267094A>G	uc010gqp.2	-	9	1406	c.1354_splice	c.e9-1	p.V452_splice	POTEH_uc002zlg.1_Splice_Site|POTEH_uc002zlh.1_Splice_Site_p.V171_splice|POTEH_uc002zlj.1_Splice_Site_p.V287_splice	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	452										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTCTTCTTCAACCTTGAATGA	0.333000														304			35		0	0	0.003610	0	0
GNAS	2778	broad.mit.edu	37	20	57415886	57415886	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr20:57415886T>C	uc021wfl.1	+	0	1092	c.725T>C	c.(724-726)aTc>aCc	p.I242T	GNAS-AS1_uc002xzs.2_Intron|GNAS_uc002xzt.3_5'UTR|GNAS_uc021wfm.1_Missense_Mutation_p.I242T|GNAS_uc010gjq.3_5'Flank	NM_016592	NP_057676	P63092	GNAS2_HUMAN	Homo sapiens GNAS complex locus (GNAS), transcript variant 4, mRNA.	0			T -> I (in AHO).		G-protein coupled receptor protein signaling pathway|activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	GTP binding|GTPase activity|adenylate cyclase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCCATCCCCATCCGGCGTCAC	0.617000			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)				29			9		0	0	0.004482	0	0
NRSN1	140767	broad.mit.edu	37	6	24145999	24145999	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:24145999T>C	uc010jpq.1	+	3	650	c.413T>C	c.(412-414)gTg>gCg	p.V138A		NM_080723	NP_542454	Q8IZ57	NRSN1_HUMAN	Homo sapiens neurensin 1 (NRSN1), mRNA.	138				V -> A (in Ref. 1; AAL14639).	nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						CTGATGTCGGTGTTTGTAAAG	0.493000														79			5		0	0	0.000602	0	0
MTUS2	23281	broad.mit.edu	37	13	29933398	29933398	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr13:29933398G>A	uc001usl.4	+	6	2994	c.2936_splice	c.e6-1	p.G979_splice		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	969	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTTTCTCACAGGATACCCAAA	0.547000														6			3		0	0	0.004672	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209150622	209150622	+	Silent	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr2:209150622T>C	uc002vcz.3	+	5	944	c.786T>C	c.(784-786)cgT>cgC	p.R262R	PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Silent_p.R262R|PIKFYVE_uc002vcw.3_Silent_p.R262R|PIKFYVE_uc002vcv.3_Silent_p.R165R|PIKFYVE_uc002vcx.3_Silent_p.R176R	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	262					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AAGCCAGCCGTAACATATTTT	0.408000														65			17		0	0	0.007413	0	0
LETM1	3954	broad.mit.edu	37	4	1818528	1818528	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr4:1818528G>A	uc003gdv.3	-	11	2154	c.1857C>T	c.(1855-1857)atC>atT	p.I619I		NM_012318	NP_036450	O95202	LETM1_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA.	619					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding	p.I619V(1)		breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TCAAGCCATCGATCTGCCCGA	0.557000														31			23		0	0	0.001882	0	0
ILF3	3609	broad.mit.edu	37	19	10793271	10793271	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:10793271A>G	uc002mpn.3	+	12	1756	c.1439A>G	c.(1438-1440)gAg>gGg	p.E480G	ILF3_uc010xli.1_Missense_Mutation_p.E78G|ILF3_uc002mpm.2_Missense_Mutation_p.E480G|ILF3_uc002mpl.2_Missense_Mutation_p.E480G|ILF3_uc002mpk.2_Missense_Mutation_p.E480G|ILF3_uc002mpo.3_Missense_Mutation_p.E480G|ILF3_uc002mpp.3_Missense_Mutation_p.E301G	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	480					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGCAAGGGGGAGGACTCGGCT	0.647000														44			6		0	0	0.001168	0	0
KIAA0947	23379	broad.mit.edu	37	5	5457825	5457826	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr5:5457825_5457826CC>TT	uc003jdm.4	+	11	1294_1295	c.1072_1073CC>TT	c.(1072-1074)ccg>TTg	p.P358L		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	358	Pro-rich.							p.P358Q(3)		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						ATCACCTCACCCGGGTTCCTTA	0.455000														199			70		0	0	0.004672	0	0
LOC146880	146880	broad.mit.edu	37	17	62750721	62750721	+	RNA	SNP	T	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:62750721T>C	uc010wqc.2	-	8		c.1893A>G								Homo sapiens Rho GTPase activating protein 27 pseudogene (LOC146880), non-coding RNA.																		ACAACCTGAGTCTGTTCATCT	0.453000														196			8		0	0	0.000978	0	0
PODXL	5420	broad.mit.edu	37	7	131195932	131195932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:131195932C>T	uc003vqw.4	-	1	619	c.361G>A	c.(361-363)Gag>Aag	p.E121K	PODXL_uc003vqx.4_Missense_Mutation_p.E121K	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	121	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TTGGGGCTCTCGATGGTGGTA	0.557000														138			232		0	0	0.003610	0	0
LILRB1	10859	broad.mit.edu	37	19	55142722	55142723	+	Splice_Site	DNP	GG	AA	AA			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:55142722_55142723GG>AA	uc002qgj.3	+	4	375	c.35_splice	c.e4-1	p.G12_splice	LILRB1_uc010erp.1_Splice_Site_p.G29_splice|LILRB1_uc002qgl.3_Splice_Site_p.G12_splice|LILRB1_uc002qgk.3_Splice_Site_p.G12_splice|LILRB1_uc002qgm.3_Splice_Site_p.G12_splice|LILRB1_uc010erq.3_Splice_Site_p.G12_splice|LILRB1_uc010err.3_Splice_Site	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	12					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)		TCTCTTCCAGGGCTGAGTCTGG	0.663000										HNSCC(37;0.09)				35			17		0	0	0.004672	0	0
SNX6	58533	broad.mit.edu	37	14	35077236	35077236	+	Splice_Site	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr14:35077236G>A	uc001wsf.1	-	4	314	c.306_splice	c.e4+1	p.I102_splice	SNX6_uc001wse.1_Splice_Site|SNX6_uc010tpm.1_Splice_Site|SNX6_uc010amm.1_Splice_Site	NM_152233	NP_067072	Q9UNH7	SNX6_HUMAN	Homo sapiens sorting nexin 6 (SNX6), transcript variant 2, mRNA.	90	PX.|Phosphatidylinositol bisphosphate binding (By similarity).				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CAATACTTACGATATAACCTG	0.318000														39			23		0	0	0.002299	0	0
SHC3	53358	broad.mit.edu	37	9	91690088	91690088	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr9:91690088C>T	uc004aqf.2	-	3	972	c.665G>A	c.(664-666)gGa>gAa	p.G222E		NM_016848	NP_058544	Q92529	SHC3_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) transforming protein 3 (SHC3), mRNA.	222	PID.				Ras protein signal transduction|central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						GATGCTCATTCCCGCAAACTG	0.502000														56			21		0	0	0.001523	0	0
DST	667	broad.mit.edu	37	6	56510976	56510976	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:56510976A>G	uc021zay.1	-	10	1172	c.1046T>C	c.(1045-1047)cTt>cCt	p.L349P	DST_uc011dxl.1_Missense_Mutation_p.L338P|DST_uc021zaz.1_Missense_Mutation_p.L309P|DST_uc003pde.2_Missense_Mutation_p.L425P	NM_001723	NP_001714	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1e, mRNA.	309					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	Z disc|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	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein 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)			CTGATTATAAAGTGCCTAAAA	0.299000														8			3		0	0	0.004672	0	0
CST6	1474	broad.mit.edu	37	11	65780335	65780335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr11:65780335G>A	uc001ogr.3	+	1	333	c.279G>A	c.(277-279)atG>atA	p.M93I	CST6_uc001ogs.1_Missense_Mutation_p.M3I	NM_001323	NP_001314	Q15828	CYTM_HUMAN	Homo sapiens cystatin E/M (CST6), mRNA.	93					anatomical structure morphogenesis	extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(1)|ovary(1)	3						CGATGGAGATGGGGAGCACAG	0.627000														30			9		0	0	0.006214	0	0
NFKBIZ	64332	broad.mit.edu	37	3	101573519	101573519	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr3:101573519A>G	uc003dvp.3	+	5	1550	c.1435A>G	c.(1435-1437)Aat>Gat	p.N479D	NFKBIZ_uc003dvo.3_Missense_Mutation_p.N379D|NFKBIZ_uc010hpo.3_Missense_Mutation_p.N379D|NFKBIZ_uc003dvq.3_Missense_Mutation_p.N357D	NM_031419	NP_001005474	Q9BYH8	IKBZ_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta (NFKBIZ), transcript variant 1, mRNA.	479	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						TAAAGAGCACAATGGACAGGT	0.453000														61			15		0	0	0.003163	0	0
CUL9	23113	broad.mit.edu	37	6	43171673	43171673	+	Silent	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:43171673G>A	uc003ouk.3	+	19	4182	c.4107G>A	c.(4105-4107)aaG>aaA	p.K1369K	CUL9_uc003oul.3_Silent_p.K1369K|CUL9_uc010jyk.3_Silent_p.K521K	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1369					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CACTGGGCAAGACCTGCTGGG	0.577000														64			32		0	0	0.008361	0	0
PRSS1	5644	broad.mit.edu	37	7	142458472	142458473	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:142458472_142458473CC>TT	uc003wak.2	+	1	124_125	c.107_108CC>TT	c.(106-108)ccc>cTT	p.P36L	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_Intron|PRSS1_uc003wam.2_5'Flank	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	36	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)			AATTCTGTCCCCTACCAGGTGT	0.530000														266			32		0	0	0.004672	0	0
KRTAP26-1	388818	broad.mit.edu	37	21	31692118	31692118	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr21:31692118G>A	uc002ynw.3	-	0	490	c.236C>T	c.(235-237)tCt>tTt	p.S79F		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	Homo sapiens keratin associated protein 26-1 (KRTAP26-1), mRNA.	79						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						AGAACCGCAAGAGGTTTCAAG	0.537000														90			40		0	0	0.007835	0	0
NRM	11270	broad.mit.edu	37	6	30656531	30656531	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:30656531G>C	uc003nrc.3	-	3	1003	c.696C>G	c.(694-696)caC>caG	p.H232Q	PPP1R18_uc003nra.3_5'Flank|PPP1R18_uc003nrb.4_5'Flank|NRM_uc003nre.3_Missense_Mutation_p.H120Q	NM_007243	NP_009174	Q8IXM6	NRM_HUMAN	Homo sapiens nurim (nuclear envelope membrane protein) (NRM), mRNA.	232	Leu-rich.					integral to membrane|nuclear inner membrane				large_intestine(1)|lung(2)	3						GATCAAGCCCGTGAGCCAGGC	0.622000														47			19		0	0	0.006122	0	0
FRMD1	79981	broad.mit.edu	37	6	168467510	168467510	+	Splice_Site	SNP	C	T	T			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:168467510C>T	uc003qwo.4	-	4	450	c.385_splice	c.e4-1	p.G129_splice	FRMD1_uc003qwm.4_5'Flank|FRMD1_uc011egs.2_Splice_Site|FRMD1_uc011egt.2_Splice_Site_p.G41_splice|FRMD1_uc003qwn.4_Splice_Site_p.G61_splice	NM_024919	NP_079195	Q8N878	FRMD1_HUMAN	Homo sapiens FERM domain containing 1 (FRMD1), transcript variant 1, mRNA.	129	FERM.					cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TTTCTCATTTCCCTAGTGGGG	0.577000														21			15		0	0	0.003163	0	0
FBXO46	23403	broad.mit.edu	37	19	46215522	46215522	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:46215522A>G	uc002pcz.3	-	1	1355	c.1232T>C	c.(1231-1233)cTc>cCc	p.L411P	FBXO46_uc002pcy.3_Missense_Mutation_p.L411P|FBXO46_uc021uvz.1_Missense_Mutation_p.L411P	NM_001080469	NP_001073938	Q6PJ61	FBX46_HUMAN	Homo sapiens F-box protein 46 (FBXO46), mRNA.	411							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GCGGTTCTGGAGAAAGAAGAG	0.706000														22			6		0	0	0.001168	0	0
DLX4	1748	broad.mit.edu	37	17	48051170	48051171	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr17:48051170_48051171CC>TT	uc002ipv.3	+	2	857_858	c.586_587CC>TT	c.(586-588)ccc>TTc	p.P196F	DLX4_uc002ipw.3_Missense_Mutation_p.P124F|DLX4_uc021tzu.1_3'UTR	NM_138281	NP_612138	Q92988	DLX4_HUMAN	Homo sapiens distal-less homeobox 4 (DLX4), transcript variant 1, mRNA.	196					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						CTCTGTGTCTCCCTGCTCCCCA	0.579000														56			20		0	0	0.004672	0	0
NOS3	4846	broad.mit.edu	37	7	150706067	150706067	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:150706067G>A	uc003wif.3	+	17	2458	c.2162G>A	c.(2161-2163)cGa>cAa	p.R721Q	NOS3_uc011kuy.2_Missense_Mutation_p.R515Q	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	721					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	Golgi membrane|caveola|cytoskeleton|cytosol	FMN binding|NADP binding|actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|heme binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCCGCCGCCCGAGACATCTTC	0.706000											OREG0018442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		72			17		0	0	0.008871	0	0
XRCC1	7515	broad.mit.edu	37	19	44058832	44058832	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr19:44058832C>A	uc002owt.2	-	3	500	c.380G>T	c.(379-381)cGg>cTg	p.R127L	XRCC1_uc010xwp.1_Missense_Mutation_p.R96L	NM_006297	NP_006288	P18887	XRCC1_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.	127					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				AATTTTGACCCGGTCCCAGCG	0.612000								Other BER factors						167			45		1.03325e-14	1.81773e-14	0.002852	1	0
GBX1	2636	broad.mit.edu	37	7	150845860	150845860	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr7:150845860A>G	uc011kvg.2	-	1	1140	c.908T>C	c.(907-909)gTg>gCg	p.V303A		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	Homo sapiens gastrulation brain homeobox 1 (GBX1), mRNA.	303						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTTGACCTGCACCTCACTGAG	0.532000														117			17		0	0	0.007413	0	0
ARID1B	57492	broad.mit.edu	37	6	157405953	157405954	+	Frame_Shift_Ins	INS	-	G	G			TCGA-EE-A3AB-06A-11D-A196-08	TCGA-EE-A3AB-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	63a4bf4b-fddd-437d-a309-e01516816712	ae160570-133c-4b79-a26c-89b005b633cc	g.chr6:157405953_157405954insG	uc003qqp.3	+	4	2156_2157	c.2156_2157insG	c.(2155-2157)ccgfs	p.P719fs	ARID1B_uc003qqo.3_Frame_Shift_Ins_p.P732fs|ARID1B_uc003qqn.3_Frame_Shift_Ins_p.P719fs|ARID1B_uc003qqq.1_Frame_Shift_Ins_p.P103fs	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	719	Ser-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCAGCATCCCGGGGGGCCCAT	0.599													---	28	---	---	16	---					
