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
SDHD	6392	broad.mit.edu	37	11	111965693	111965693	+	Nonstop_Mutation	SNP	G	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:111965693G>T	uc001pmz.3	+	3	540	c.479G>T	c.(478-480)tGa>tTa	p.*160L		NM_003002	NP_002993	O14521	DHSD_HUMAN	Homo sapiens succinate dehydrogenase complex, subunit D, integral membrane protein (SDHD), nuclear gene encoding mitochondrial protein, mRNA.	0					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II	electron carrier activity|heme binding|succinate dehydrogenase activity|ubiquinone binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9		all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;6.13e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;1.05e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0515)	Succinic acid(DB00139)	TGGAAGCTCTGACCTTTTTGA	0.423000			"""Mis, N, F, S"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Cowden syndrome;Carney-Stratakis syndrome					24			34		1.21353e-23	1.23402e-23	1	1	0
ZNF846	162993	broad.mit.edu	37	19	9869040	9869040	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:9869040G>A	uc002mmb.1	-	5	1244	c.713C>T	c.(712-714)tCc>tTc	p.S238F	ZNF846_uc021uoq.1_Non-coding_Transcript|ZNF846_uc010dww.3_Missense_Mutation_p.S109F|ZNF846_uc002mmc.1_Missense_Mutation_p.S109F	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	Homo sapiens zinc finger protein 846 (ZNF846), mRNA.	238					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						AAGGTGTGAGGAATTACTGAA	0.373000														85			42		0	0	1	0	0
DVL3	1857	broad.mit.edu	37	3	183887840	183887840	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:183887840C>T	uc003fms.3	+	13	1685	c.1545C>T	c.(1543-1545)gcC>gcT	p.A515A	DVL3_uc011bqw.2_Silent_p.A498A|DVL3_uc003fmt.3_Silent_p.A186A|DVL3_uc003fmu.3_Silent_p.A347A	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.	515					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCAGTGGCGCCTCTGACCAGG	0.657000														150			64		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21250658	21250658	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:21250658G>A	uc001iqk.3	-	3	654	c.300C>T	c.(298-300)atC>atT	p.I100I	NEBL_uc021pnu.1_Silent_p.I100I	NM_213569	NP_998734	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 2, mRNA.	763					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGTCCGTGACGATGCTGAAGC	0.458000														82			55		0	0	1	0	0
DDIT4	54541	broad.mit.edu	37	10	74034734	74034734	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:74034734C>T	uc001jsx.1	+	2	689	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L	FU270201_uc021pst.1_5'Flank|FU270202_uc021psu.1_5'Flank	NM_019058	NP_061931	Q9NX09	DDIT4_HUMAN	Homo sapiens DNA-damage-inducible transcript 4 (DDIT4), mRNA.	163					apoptosis					cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CGTGGGCCAGCTGGCACTCGA	0.687000											OREG0020262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			37		0	0	1	0	0
LAMB3	3914	broad.mit.edu	37	1	209791975	209791975	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:209791975C>T	uc001hhg.3	-	17	3121	c.2731G>A	c.(2731-2733)Gag>Aag	p.E911K	LAMB3_uc009xco.3_Missense_Mutation_p.E911K|LAMB3_uc001hhh.3_Missense_Mutation_p.E911K	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	911	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TCGCTGACCTCCTGGATAGTG	0.582000														131			28		0	0	1	0	0
SYDE2	84144	broad.mit.edu	37	1	85656133	85656133	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:85656133A>T	uc009wcm.3	-	1	1097	c.1048T>A	c.(1048-1050)Tta>Ata	p.L350I	SYDE2_uc001dku.4_Missense_Mutation_p.L350I	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	350					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TTTTTCGATAATGAAGAGTTT	0.373000														10			6		0	0	1	0	0
GSTCD	79807	broad.mit.edu	37	4	106640409	106640409	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:106640409G>A	uc003hxz.4	+	2	691	c.619G>A	c.(619-621)Gga>Aga	p.G207R	GSTCD_uc003hxx.2_Missense_Mutation_p.G207R|GSTCD_uc003hxy.4_Missense_Mutation_p.G120R|GSTCD_uc011cfb.2_Intron|GSTCD_uc010ils.2_Missense_Mutation_p.G207R	NM_001031720	NP_001026890	Q8NEC7	GSTCD_HUMAN	Homo sapiens glutathione S-transferase, C-terminal domain containing (GSTCD), transcript variant 1, mRNA.	207	GST C-terminal.					cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		GAAGGCTGATGGAGTTGGGCC	0.458000														65			45		0	0	1	0	0
CD6	923	broad.mit.edu	37	11	60777108	60777108	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:60777108C>T	uc001nqq.3	+	4	1071	c.846C>T	c.(844-846)ttC>ttT	p.F282F	CD6_uc009yni.3_Intron|CD6_uc009ynj.3_Intron|CD6_uc001nqp.3_Silent_p.F282F|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Silent_p.F282F|CD6_uc001nqt.3_Silent_p.F282F	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	282	SRCR 3.				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						AGGTACACTTCCGAGGGGTCT	0.642000														52			82		0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115931888	115931888	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:115931888G>A	uc004bgs.2	-	25	3254	c.3101C>T	c.(3100-3102)tCc>tTc	p.S1034F	FKBP15_uc004bgr.2_Missense_Mutation_p.S471F|FKBP15_uc011lxc.1_Missense_Mutation_p.S615F|FKBP15_uc011lxd.1_Missense_Mutation_p.S966F	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN	Homo sapiens FK506 binding protein 15, 133kDa (FKBP15), mRNA.	1034					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						AACTCTGTGGGATGGGATGCA	0.547000														47			36		0	0	1	0	0
YME1L1	10730	broad.mit.edu	37	10	27422981	27422981	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:27422981G>A	uc001iti.3	-	7	1143	c.933C>T	c.(931-933)aaC>aaT	p.N311N	YME1L1_uc001itj.3_Silent_p.N254N|YME1L1_uc010qdl.2_Silent_p.N221N	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	311					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATAAAAATGGGTTTTTTAGAA	0.328000														17			10		0	0	1	0	0
TCN2	6948	broad.mit.edu	37	22	31019011	31019011	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:31019011C>T	uc003aip.2	+	7	1412	c.1163C>T	c.(1162-1164)gCg>gTg	p.A388V	TCN2_uc003air.2_Missense_Mutation_p.A361V	NM_000355	NP_000346	P20062	TCO2_HUMAN	Homo sapiens transcobalamin II (TCN2), transcript variant 1, mRNA.	388					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding	p.A388V(4)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATGGGGAAAGCGGCCGGAGAA	0.562000														127			61		0	0	1	0	0
HOOK1	51361	broad.mit.edu	37	1	60312778	60312778	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:60312778G>A	uc009wad.3	+	10	952	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	HOOK1_uc001czo.3_Missense_Mutation_p.E284K|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Missense_Mutation_p.E242K	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	284	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding	p.E284K(2)		biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GCAGCTAATCGAATTCCAGCA	0.348000														31			26		0	0	1	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702993	27702993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:27702993C>T	uc001itu.2	-	0	305	c.187G>A	c.(187-189)Gag>Aag	p.E63K		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	63					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GCATCCTGCTCCGACGCCAGG	0.692000														91			64		0	0	1	0	0
RHOF	54509	broad.mit.edu	37	12	122217508	122217508	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:122217508G>A	uc001ubb.3	-	4	587	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	TMEM120B_uc001ubc.4_3'UTR|TMEM120B_uc009zxh.3_3'UTR|TMEM120B_uc001uba.1_Non-coding_Transcript	NM_019034	NP_061907	Q9HBH0	RHOF_HUMAN	Homo sapiens ras homolog gene family, member F (in filopodia) (RHOF), mRNA.	178					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		ACATTCTCCCGAAACTTGGCG	0.642000														107			154		0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83029377	83029377	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:83029377C>T	uc003uhy.2	-	10	1954	c.1333G>A	c.(1333-1335)Gat>Aat	p.D445N	SEMA3E_uc022agy.1_Missense_Mutation_p.D385N	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	445	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TATTGGCCATCCTCAGCTTCC	0.343000														151			52		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	55107575	55107575	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:55107575G>A	uc003dhf.3	+	35	3139	c.3091G>A	c.(3091-3093)Gaa>Aaa	p.E1031K	CACNA2D3_uc003dhg.1_Missense_Mutation_p.E937K|CACNA2D3_uc003dhh.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	1031						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GGCACCCATTGAAATCAGGTA	0.502000														45			62		0	0	1	0	0
PSG3	5671	broad.mit.edu	37	19	43243030	43243030	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:43243030C>T	uc002oue.3	-	1	408	c.276G>A	c.(274-276)ggG>ggA	p.G92G	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	92	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGTATGCAGGCCCATATATAA	0.448000														496			152		0	0	1	0	0
EXT2	2132	broad.mit.edu	37	11	44130794	44130794	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:44130794C>T	uc001mya.3	+	2	742	c.686C>T	c.(685-687)cCc>cTc	p.P229L	EXT2_uc010rfo.2_Missense_Mutation_p.P224L|EXT2_uc009ykt.3_Missense_Mutation_p.P196L|EXT2_uc001mxz.3_Missense_Mutation_p.P196L	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	196					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCTGGAGGTCCCCCAGATTAT	0.433000			"""Mis, N, F, S"""			"""exostoses, osteosarcoma"""			Hereditary Multiple Exostoses					108			92		0	0	1	0	0
OXCT2	64064	broad.mit.edu	37	1	40235554	40235554	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:40235554G>A	uc001ceb.1	-	0	1467	c.1374C>T	c.(1372-1374)acC>acT	p.T458T	BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron	NM_022120	NP_071403	Q9BYC2	SCOT2_HUMAN	Homo sapiens 3-oxoacid CoA transferase 2 (OXCT2), mRNA.	458					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	ACCGCTTCCCGGTCAGCGGCA	0.587000														42			13		0	0	1	0	0
UNC13A	23025	broad.mit.edu	37	19	17759783	17759783	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:17759783G>A	uc021uqk.1	-	14	1573	c.1531C>T	c.(1531-1533)Cag>Tag	p.Q511*		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	512					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TTCCTGGACTGGACCAGGGAC	0.632000														13			15		0	0	1	0	0
NELL1	4745	broad.mit.edu	37	11	21581792	21581792	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:21581792A>G	uc009yid.3	+	17	2081	c.1928A>G	c.(1927-1929)aAc>aGc	p.N643S	NELL1_uc010rdp.2_Missense_Mutation_p.N328S|NELL1_uc001mqe.3_Missense_Mutation_p.N615S|NELL1_uc001mqf.3_Missense_Mutation_p.N568S|NELL1_uc010rdo.2_Missense_Mutation_p.N558S|NELL1_uc001mqh.3_Intron	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	615	VWFC 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GCCTGCATCAACCTGGCAGGG	0.537000														192			62		0	0	1	0	0
NEUROD1	4760	broad.mit.edu	37	2	182543039	182543039	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:182543039C>T	uc021vto.1	-	0	549	c.549G>A	c.(547-549)ctG>ctA	p.L183L	CERKL_uc021vtm.1_Intron|CERKL_uc002uod.2_Intron|NEUROD1_uc002uof.3_Silent_p.L183L|NEUROD1_uc021vtn.1_Silent_p.L183L	NM_002500	NP_002491	Q13562	NDF1_HUMAN	Homo sapiens neurogenic differentiation 1 (NEUROD1), mRNA.	183					amacrine cell differentiation|cerebellum development|dentate gyrus development|embryonic organ morphogenesis|enteroendocrine cell differentiation|glucose homeostasis|inner ear development|insulin secretion|negative regulation of apoptosis|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of intestinal epithelial structure maintenance|response to glucose stimulus	cytoplasm|nucleus	E-box binding|chromatin binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			AGCCCGCAACCAGGTTGGTGG	0.607000														64			44		0	0	1	0	0
UTP18	51096	broad.mit.edu	37	17	49371371	49371371	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:49371371C>T	uc002its.3	+	11	1660	c.1611C>T	c.(1609-1611)gcC>gcT	p.A537A		NM_016001	NP_057085	Q9Y5J1	UTP18_HUMAN	Homo sapiens UTP18 small subunit (SSU) processome component homolog (yeast) (UTP18), mRNA.	537					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			GATACTTTGCCTTGGGGAATG	0.353000														6			32		0	0	1	0	0
CELF4	56853	broad.mit.edu	37	18	34853016	34853016	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr18:34853016C>T	uc002lae.2	-	6	1308	c.912G>A	c.(910-912)atG>atA	p.M304I	CELF4_uc021uix.1_Missense_Mutation_p.M302I|CELF4_uc021uiy.1_Missense_Mutation_p.M303I|CELF4_uc002lag.2_Missense_Mutation_p.M294I|CELF4_uc002laf.2_Missense_Mutation_p.M299I|CELF4_uc002lai.2_Missense_Mutation_p.M289I|CELF4_uc002lah.2_Missense_Mutation_p.M29I|CELF4_uc002laj.1_Missense_Mutation_p.E140K	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	304	Ala-rich.				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						CCAGGCCATTCATGTTGAGGG	0.677000														49			87		0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156948003	156948003	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:156948003G>A	uc001fqo.3	-	5	1543	c.503C>T	c.(502-504)cCt>cTt	p.P168L	ARHGEF11_uc001fqn.3_Missense_Mutation_p.P168L	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	168					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TACCTGCAGAGGTTTGGGTCC	0.547000														40			84		0	0	1	0	0
MTL5	9633	broad.mit.edu	37	11	68518115	68518116	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:68518115_68518116GG>AA	uc001ooc.3	-	1	153_154	c.13_14CC>TT	c.(13-15)cct>TTt	p.P5F	MTL5_uc001ood.1_Missense_Mutation_p.P5F|MTL5_uc009ysi.1_Missense_Mutation_p.P5F|MTL5_uc001ooe.3_Missense_Mutation_p.P5F	NM_004923	NP_004914	Q9Y4I5	MTL5_HUMAN	Homo sapiens metallothionein-like 5, testis-specific (tesmin) (MTL5), transcript variant 1, mRNA.	5					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GCCCGGCAGAGGGCCCTCCTCC	0.728000														1			23		0	0	1	0	0
PLCE1	51196	broad.mit.edu	37	10	95790940	95790940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:95790940G>A	uc001kjk.3	+	1	771	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	PLCE1_uc010qnx.2_Missense_Mutation_p.R46Q	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	46					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)				ACTGTCAGACGAAGTGGGGAG	0.433000														31			23		0	0	1	0	0
NAIP	4671	broad.mit.edu	37	5	70307183	70307183	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:70307183T>G	uc003kar.1	-	4	1305	c.587A>C	c.(586-588)cAg>cCg	p.Q196P	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.Q196P|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.	196					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GGAAAAACACTGTACCGTGTC	0.418000														57			21		0	0	1	0	0
ZNF212	7988	broad.mit.edu	37	7	148950957	148950957	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:148950957C>T	uc003wfp.3	+	4	1067	c.939C>T	c.(937-939)tcC>tcT	p.S313S		NM_012256	NP_036388	Q9UDV6	ZN212_HUMAN	Homo sapiens zinc finger protein 212 (ZNF212), mRNA.	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			AGGACACTTCCCGCCCCTACG	0.572000														87			39		0	0	1	0	0
OR5AK2	390181	broad.mit.edu	37	11	56756888	56756888	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:56756888C>T	uc010rjp.2	+	0	500	c.500C>T	c.(499-501)tCc>tTc	p.S167F		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TGTTCACTGTCCTTCTGCAAG	0.418000														154			203		0	0	1	0	0
PLEKHG2	64857	broad.mit.edu	37	19	39915335	39915335	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:39915335G>A	uc010xuz.2	+	18	3887	c.3562G>A	c.(3562-3564)Gat>Aat	p.D1188N	PLEKHG2_uc010xuy.2_Missense_Mutation_p.D1129N|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.D966N	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	1188					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AAGCCTTACAGATACACAGGT	0.567000														241			97		0	0	1	0	0
EML4	27436	broad.mit.edu	37	2	42557083	42557083	+	Silent	SNP	A	G	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:42557083A>G	uc002rsi.3	+	22	2944	c.2682A>G	c.(2680-2682)caA>caG	p.Q894Q	EML4_uc010fap.3_Silent_p.Q836Q|EML4_uc002rsj.3_Silent_p.Q583Q|EML4_uc010faq.3_Silent_p.Q239Q|EML4_uc010ynv.2_Silent_p.Q158Q	NM_019063	NP_061936	Q9HC35	EMAL4_HUMAN	Homo sapiens echinoderm microtubule associated protein like 4 (EML4), transcript variant 1, mRNA.	894					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						GTGTCATCCAATCTAATACTC	0.468000			T	ALK	NSCLC									63			57		0	0	1	0	0
KCNQ3	3786	broad.mit.edu	37	8	133141656	133141656	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:133141656C>T	uc003ytj.3	-	14	2697	c.2472G>A	c.(2470-2472)tcG>tcA	p.S824S	KCNQ3_uc003yti.3_Silent_p.S704S|KCNQ3_uc010mdt.3_Silent_p.S812S	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 3 (KCNQ3), transcript variant 1, mRNA.	824					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.G823E(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCATCCAGCTCGACCCCCCAT	0.622000														8			43		0	0	1	0	0
AHRR	57491	broad.mit.edu	37	5	428049	428049	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:428049C>T	uc003jav.3	+	8	945	c.902C>T	c.(901-903)gCg>gTg	p.A301V	AHRR_uc003jaw.3_Missense_Mutation_p.A283V|AHRR_uc010isy.3_Missense_Mutation_p.A129V|AHRR_uc010isz.3_Missense_Mutation_p.A279V|AHRR_uc003jax.3_Missense_Mutation_p.A42V|AHRR_uc003jay.3_Missense_Mutation_p.A139V	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity	p.A297V(1)		breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CCCTCCGCAGCGGAGATGAAA	0.617000														41			14		0	0	1	0	0
MYH7	4625	broad.mit.edu	37	14	23884999	23884999	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:23884999C>T	uc001wjx.3	-	34	5102	c.4996G>A	c.(4996-4998)Gac>Aac	p.D1666N		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1666					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCTTCAGGTCGTCGTTGGCA	0.617000														43			90		0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45234366	45234366	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:45234366G>A	uc002ile.4	-	6	882	c.755C>T	c.(754-756)tCc>tTc	p.S252F	CDC27_uc002ild.4_Missense_Mutation_p.S252F|CDC27_uc002ilf.4_Missense_Mutation_p.S252F|CDC27_uc010wkp.2_Missense_Mutation_p.S191F|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.	252					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	p.S252T(1)		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						AGATAATATGGAAGTTCCTGT	0.383000														82			8		0	0	1	0	0
TRPC3	7222	broad.mit.edu	37	4	122831408	122831409	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:122831408_122831409GG>AA	uc003ieg.2	-	5	1766_1767	c.1692_1693CC>TT	c.(1690-1695)ttcctt>ttTTtt	p.L565F	TRPC3_uc010inr.2_Missense_Mutation_p.L437F|TRPC3_uc003ief.2_Missense_Mutation_p.L492F|TRPC3_uc011cgl.1_Missense_Mutation_p.L229F	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	480					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GTTGCCTGAAGGAAAGCTAGGA	0.465000														57			37		0	0	1	0	0
ECM1	1893	broad.mit.edu	37	1	150482583	150482583	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:150482583C>T	uc001euv.3	+	4	590	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	ECM1_uc010pcf.2_Missense_Mutation_p.P26S|ECM1_uc010pce.2_Missense_Mutation_p.P33S|ECM1_uc001eus.3_Missense_Mutation_p.P104S|ECM1_uc001eut.3_Missense_Mutation_p.P104S|ECM1_uc009wlu.3_5'UTR	NM_001202858	NP_001189787	Q16610	ECM1_HUMAN	Homo sapiens extracellular matrix protein 1 (ECM1), transcript variant 3, mRNA.	104					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TGCAGTGGGTCCCCCTCTCCC	0.582000														155			387		0	0	1	0	0
C7	730	broad.mit.edu	37	5	40981622	40981622	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:40981622G>A	uc003jmh.3	+	17	2593	c.2479G>A	c.(2479-2481)Ggg>Agg	p.G827R		NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	827	Complement control factor I module 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				GAGATGCAGAGGGCAGAGCAT	0.577000														27			32		0	0	1	0	0
PPP2R2C	5522	broad.mit.edu	37	4	6349649	6349649	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:6349649G>A	uc003gja.3	-	5	738	c.714C>T	c.(712-714)ttC>ttT	p.F238F	PPP2R2C_uc003gjb.3_Silent_p.F221F|PPP2R2C_uc003gjc.3_Silent_p.F238F|PPP2R2C_uc011bwd.2_Silent_p.F231F|PPP2R2C_uc011bwe.2_Silent_p.F231F|PPP2R2C_uc003gjd.1_Silent_p.F326F	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA.	238					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	p.F238F(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TGCTGTAGACGAAGAGGTTGC	0.612000														48			27		0	0	1	0	0
MMP10	4319	broad.mit.edu	37	11	102649474	102649474	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:102649474C>T	uc001phg.2	-	3	540	c.503G>A	c.(502-504)gGa>gAa	p.G168E		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	168					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		GTAAAAGTCTCCATGTTCTGA	0.373000														5			57		0	0	1	0	0
MAVS	57506	broad.mit.edu	37	20	3843000	3843000	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:3843000C>T	uc002wjw.4	+	4	737	c.565C>T	c.(565-567)Cct>Tct	p.P189S	MAVS_uc002wjx.4_Missense_Mutation_p.P48S|MAVS_uc002wjy.4_5'UTR	NM_020746	NP_001193420	Q7Z434	MAVS_HUMAN	Homo sapiens mitochondrial antiviral signaling protein (MAVS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	189					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of IP-10 production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						AGCCCTCAGCCCTCTGACCTC	0.587000														86			49		0	0	1	0	0
GPX3	2878	broad.mit.edu	37	5	150404944	150404944	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:150404944G>A	uc021yga.1	+	1	348	c.131G>A	c.(130-132)gGa>gAa	p.G44E		NM_002084	NP_002075	P22352	GPX3_HUMAN	Homo sapiens glutathione peroxidase 3 (plasma) (GPX3), mRNA.	44					hydrogen peroxide catabolic process|protein homotetramerization|response to lipid hydroperoxide	extracellular space	glutathione peroxidase activity|selenium binding|transcription factor binding			kidney(1)|large_intestine(3)|lung(1)|skin(1)	6		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glutathione(DB00143)	TACGAGTACGGAGCCCTCACC	0.532000														75			61		0	0	1	0	0
DMRTB1	63948	broad.mit.edu	37	1	53927249	53927249	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:53927249C>T	uc001cvq.1	+	1	736	c.681C>T	c.(679-681)gcC>gcT	p.A227A		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	227	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						ACCTGGACGCCCCTCCTGGCG	0.667000														69			49		0	0	1	0	0
PRKCQ	5588	broad.mit.edu	37	10	6553002	6553002	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:6553002C>T	uc001iji.1	-	1	456	c.372G>A	c.(370-372)tcG>tcA	p.S124S	PRKCQ_uc001ijj.2_Silent_p.S91S|PRKCQ_uc009xim.2_Silent_p.S91S|PRKCQ_uc009xin.2_Silent_p.S55S|PRKCQ_uc010qax.2_5'UTR	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	91					T cell receptor signaling pathway|axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TCTCAGCCAGCGAGTAGAGCT	0.468000														101			56		0	0	1	0	0
SLC12A8	84561	broad.mit.edu	37	3	124837619	124837619	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:124837619C>T	uc003ehw.4	-	7	1063	c.993G>A	c.(991-993)gcG>gcA	p.A331A	SLC12A8_uc003ehv.4_Silent_p.A302A|SLC12A8_uc010hrz.1_3'UTR|SLC12A8_uc003eht.4_Silent_p.A103A|SLC12A8_uc010hry.3_Silent_p.A55A	NM_024628	NP_078904	A0AV02	S12A8_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 8 (SLC12A8), transcript variant 1, mRNA.	302					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						TCACCTTTTCCGCTATCAGGA	0.532000														19			21		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488568	108488568	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:108488568G>A	uc010ywk.2	+	19	4190	c.4108G>A	c.(4108-4110)Gat>Aat	p.D1370N	RGPD4_uc002tdu.3_Missense_Mutation_p.D557N|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1370	RanBD1 2.				intracellular transport		binding	p.D1370H(2)		breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATATGATAAAGATGTTGGTCA	0.358000														91			63		0	0	1	0	0
EBF1	1879	broad.mit.edu	37	5	158140087	158140087	+	Silent	SNP	T	C	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:158140087T>C	uc010jip.3	-	12	1562	c.1260A>G	c.(1258-1260)caA>caG	p.Q420Q	EBF1_uc011ddw.2_Silent_p.Q288Q|EBF1_uc011ddx.2_Silent_p.Q421Q|EBF1_uc003lxl.4_Silent_p.Q389Q	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	420					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGCCGGGAGTTGGTTGTGGT	0.552000			T	HMGA2	lipoma									71			42		0	0	1	0	0
CHL1	10752	broad.mit.edu	37	3	403449	403449	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:403449C>T	uc003bot.3	+	12	2016	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	CHL1_uc003bou.3_Silent_p.F442F|CHL1_uc003bow.2_Silent_p.F442F|CHL1_uc011asi.2_Silent_p.F458F	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	442	Ig-like C2-type 5.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ACAGTGCTTTCTTACATTGCG	0.408000														77			109		0	0	1	0	0
MGAM	8972	broad.mit.edu	37	7	141803141	141803141	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:141803141G>A	uc003vwy.3	+	46	5452	c.5398G>A	c.(5398-5400)Gaa>Aaa	p.E1800K		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1800	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GGGCTACATTGAAATCTGGGG	0.428000														41			11		0	0	1	0	0
GPR111	222611	broad.mit.edu	37	6	47649585	47649585	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:47649585C>T	uc010jzj.1	+	5	1291	c.1290C>T	c.(1288-1290)acC>acT	p.T430T	GPR111_uc003oyy.3_Silent_p.T362T	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	430	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AATTGTTTACCTCTTTCTCAA	0.438000														71			57		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38964173	38964173	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:38964173C>T	uc002oit.3	+	27	4052	c.3922C>T	c.(3922-3924)Ccg>Tcg	p.P1308S	RYR1_uc002oiu.3_Missense_Mutation_p.P1308S	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1308	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGGGCCACCCCGCTGGCACC	0.701000														9			17		0	0	1	0	0
PCDH12	51294	broad.mit.edu	37	5	141335364	141335364	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:141335364A>C	uc003llx.3	-	0	3264	c.2053T>G	c.(2053-2055)Tta>Gta	p.L685V		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	685	Cadherin 6.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGTCTGTAAGGGGGGGCTT	0.587000														15			10		0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43532712	43532712	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:43532712C>T	uc003tid.1	+	18	3975	c.3370C>T	c.(3370-3372)Cgc>Tgc	p.R1124C	HECW1_uc011kbi.1_Missense_Mutation_p.R1090C	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1124					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.R1103C(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGCATTTCTTCGCCAGCCAAA	0.458000														63			20		0	0	1	0	0
PCDHB8	56128	broad.mit.edu	37	5	140558576	140558576	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:140558576G>A	uc011dai.2	+	0	1206	c.961G>A	c.(961-963)Gag>Aag	p.E321K	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	321	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGTCAATATCGAGGCGAGAGA	0.398000														599			80		0	0	1	0	0
NUDT13	25961	broad.mit.edu	37	10	74886445	74886445	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:74886445G>A	uc001jtj.3	+	7	843	c.718G>A	c.(718-720)Gag>Aag	p.E240K	NUDT13_uc010qkc.2_Missense_Mutation_p.E114K|NUDT13_uc010qkd.2_Missense_Mutation_p.E43K|NUDT13_uc009xqw.3_Non-coding_Transcript|NUDT13_uc001jtk.3_Silent_p.K202K|NUDT13_uc010qke.2_Missense_Mutation_p.E43K|NUDT13_uc001jtl.3_Intron|BC069792_uc001jtm.3_5'Flank|SNORA11_uc021ptl.1_5'Flank	NM_015901	NP_056985	Q86X67	NUD13_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 13 (NUDT13), mRNA.	240	Nudix hydrolase.						hydrolase activity|metal ion binding			large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					AAGTGTGGAAGAGACCATCCG	0.512000														85			37		0	0	1	0	0
TTC29	83894	broad.mit.edu	37	4	147830272	147830272	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:147830272G>A	uc003ikx.4	-	5	634	c.384C>T	c.(382-384)tcC>tcT	p.S128S	TTC29_uc003ikw.4_Silent_p.S102S|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Silent_p.S102S	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.	102							binding	p.E128Q(1)		breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GCCAGAAGAGGGACCTGACTC	0.562000														58			36		0	0	1	0	0
CR1	1378	broad.mit.edu	37	1	207790106	207790106	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:207790106G>A	uc001hfy.3	+	32	5638	c.5498G>A	c.(5497-5499)tGg>tAg	p.W1833*	CR1_uc001hfx.3_Nonsense_Mutation_p.W2283*|CR1_uc021pij.1_Nonsense_Mutation_p.W1833*	NM_000573	NP_000564	P17927	CR1_HUMAN	Homo sapiens complement component (3b/4b) receptor 1 (Knops blood group) (CR1), transcript variant F, mRNA.	1833	Sushi 28.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AATGGGGTTTGGAGCAGCCCT	0.527000														140			317		0	0	1	0	0
PZP	5858	broad.mit.edu	37	12	9317890	9317890	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:9317890G>A	uc001qvl.3	-	18	2361	c.2332C>T	c.(2332-2334)Ctg>Ttg	p.L778L	PZP_uc009zgl.3_Silent_p.L647L|PZP_uc010sgo.1_Non-coding_Transcript|PZP_uc009zgm.1_Silent_p.L110L	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TCTTCGGACAGGCAGAAGGCC	0.562000														157			67		0	0	1	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77509909	77509909	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:77509909G>A	uc001dhi.3	+	2	457	c.282G>A	c.(280-282)agG>agA	p.R94R	ST6GALNAC5_uc010ori.2_Intron|ST6GALNAC5_uc009wbw.3_Non-coding_Transcript	NM_030965	NP_112227	Q9BVH7	SIA7E_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5 (ST6GALNAC5), mRNA.	94					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						TGCACTGCAGGGACTGTGCCC	0.602000														43			34		0	0	1	0	0
MSTN	2660	broad.mit.edu	37	2	190922136	190922136	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:190922136G>A	uc002urp.3	-	2	1109	c.976C>T	c.(976-978)Ctg>Ttg	p.L326L		NM_005259	NP_005250	O14793	GDF8_HUMAN	Homo sapiens myostatin (MSTN), mRNA.	326					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TGGTGTACCAGATGAGTATGA	0.383000														55			27		0	0	1	0	0
OR51E2	81285	broad.mit.edu	37	11	4703277	4703277	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:4703277C>T	uc001lzk.2	-	1	909	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	OR51E2_uc021qcr.1_Missense_Mutation_p.R222Q	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CAGAACCGTTCGTATTATCAG	0.488000														100			77		0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98846550	98846550	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:98846550G>A	uc002syo.3	+	15	2452	c.2188G>A	c.(2188-2190)Gaa>Aaa	p.E730K	VWA3B_uc002syk.1_Non-coding_Transcript|VWA3B_uc002syl.1_Missense_Mutation_p.E249K|VWA3B_uc002sym.3_Missense_Mutation_p.E730K|VWA3B_uc002syn.1_Non-coding_Transcript|VWA3B_uc010yvi.1_Missense_Mutation_p.E387K|VWA3B_uc002syp.1_Missense_Mutation_p.E122K|VWA3B_uc002syq.1_Missense_Mutation_p.E6K|VWA3B_uc002syr.1_Missense_Mutation_p.E47K	NM_144992	NP_659429	Q502W6	VWA3B_HUMAN	Homo sapiens von Willebrand factor A domain containing 3B (VWA3B), mRNA.	730										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTCAACCCCAGAAAAGTGTGC	0.368000														32			21		0	0	1	0	0
GPR4	2828	broad.mit.edu	37	19	46094564	46094564	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:46094564G>A	uc002pcm.3	-	1	1506	c.561C>T	c.(559-561)ttC>ttT	p.F187F	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Silent_p.F187F	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	187						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GGAAGCCCACGAACACCCGAT	0.632000														95			49		0	0	1	0	0
OR2A25	392138	broad.mit.edu	37	7	143771406	143771406	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:143771406C>T	uc011ktx.2	+	0	94	c.94C>T	c.(94-96)Ctg>Ttg	p.L32L		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GCTCTTCTCCCTGTTCTACAT	0.522000														117			56		0	0	1	0	0
CHSY1	22856	broad.mit.edu	37	15	101718317	101718317	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:101718317T>C	uc021sxt.1	-	2	2161	c.1685A>G	c.(1684-1686)aAt>aGt	p.N562S	CHSY1_uc010usd.2_Missense_Mutation_p.N290S	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	562					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GACGTTCTGATTGGGGATAAG	0.418000														42			58		0	0	1	0	0
OR52N5	390075	broad.mit.edu	37	11	5799460	5799460	+	Silent	SNP	A	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:5799460A>T	uc010qzn.2	-	0	438	c.405T>A	c.(403-405)atT>atA	p.I135I	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAGGGTAGCAAATGGCTACAT	0.507000														81			79		0	0	1	0	0
SRGAP2	23380	broad.mit.edu	37	1	206634404	206634404	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:206634404C>T	uc001hdy.3	+	19	2595	c.2594C>T	c.(2593-2595)tCg>tTg	p.S865L	SRGAP2_uc010pru.2_Missense_Mutation_p.S864L	NM_015326	NP_056141	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 1, mRNA.	952	Ser-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					ACAATGAACTCGGCCCTGAAT	0.537000														117			28		0	0	1	0	0
ERGIC3	51614	broad.mit.edu	37	20	34136412	34136412	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:34136412C>T	uc002xcs.3	+	5	681	c.612C>T	c.(610-612)ttC>ttT	p.F204F	ERGIC3_uc002xcr.1_Silent_p.F204F|ERGIC3_uc010zvg.2_Silent_p.F204F|ERGIC3_uc002xct.3_Silent_p.F204F	NM_198398	NP_938408	Q9Y282	ERGI3_HUMAN	Homo sapiens ERGIC and golgi 3 (ERGIC3), transcript variant 1, mRNA.	204					vesicle-mediated transport	ER-Golgi intermediate compartment membrane|Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TGTATGGCTTCTTGGAAGTCA	0.562000														40			16		0	0	1	0	0
ZNF782	158431	broad.mit.edu	37	9	99581854	99581854	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:99581854T>A	uc004awp.1	-	5	732	c.451A>T	c.(451-453)Atg>Ttg	p.M151L	ZNF782_uc011lup.1_Missense_Mutation_p.M19L	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	Homo sapiens zinc finger protein 782 (ZNF782), mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TGTGGGGCCATCAGGCTGAGC	0.438000														64			50		0	0	1	0	0
KCTD17	79734	broad.mit.edu	37	22	37452391	37452391	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:37452391C>T	uc010gxb.3	+	2	352	c.330C>T	c.(328-330)atC>atT	p.I110I	KCTD17_uc010gxa.1_Silent_p.I110I|KCTD17_uc011amv.2_Silent_p.I117I|RN7SK_uc021wor.1_5'Flank	NM_024681	NP_078957	Q8N5Z5	KCD17_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 17 (KCTD17), mRNA.	117						voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						TCTACAACATCGGCCCGCTGA	0.612000														70			40		0	0	1	0	0
ACACB	32	broad.mit.edu	37	12	109703275	109703275	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:109703275A>G	uc001tob.3	+	51	7314	c.7195A>G	c.(7195-7197)Atc>Gtc	p.I2399V	ACACB_uc001toc.3_Missense_Mutation_p.I2399V|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.I1065V	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	2399					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	Golgi apparatus|cytosol|endomembrane system|membrane	ATP binding|acetyl-CoA carboxylase activity|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GCGCTCCACCATCCGTGAGAA	0.632000														29			35		0	0	1	0	0
FAM75A3	727830	broad.mit.edu	37	9	40702698	40702698	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:40702698G>A	uc010mmj.3	+	3	384	c.355G>A	c.(355-357)Ggt>Agt	p.G119S		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.	119						integral to membrane				kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCAGCTCTCCGGTCCAGACCC	0.632000														63			33		0	0	1	0	0
HK3	3101	broad.mit.edu	37	5	176314617	176314617	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:176314617G>A	uc003mfa.3	-	10	1527	c.1435C>T	c.(1435-1437)Cac>Tac	p.H479Y	HK3_uc003mez.3_Missense_Mutation_p.H35Y	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	479	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGCGCCGGTGGGCAGCCAGA	0.657000														54			61		0	0	1	0	0
NAT16	375607	broad.mit.edu	37	7	100817857	100817857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:100817857C>T	uc003uxy.2	-	1	471	c.232G>A	c.(232-234)Gac>Aac	p.D78N	NAT16_uc003uxz.2_Missense_Mutation_p.D78N|NAT16_uc003uya.1_Missense_Mutation_p.D78N|NAT16_uc003uyb.1_Missense_Mutation_p.D78N	NM_198571	NP_940973	Q8N8M0	CG052_HUMAN	Homo sapiens N-acetyltransferase 16 (GCN5-related, putative) (NAT16), mRNA.	78	N-acetyltransferase.						N-acetyltransferase activity										GGAAGGTAGTCCAGGCCGCCG	0.697000														111			39		0	0	1	0	0
C20orf195	79025	broad.mit.edu	37	20	62187465	62187465	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:62187465G>A	uc002yfj.3	+	1	541	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	C20orf195_uc021wgc.1_Missense_Mutation_p.R150Q	NM_024059	NP_076964	Q9BVV2	CT195_HUMAN	Homo sapiens chromosome 20 open reading frame 195 (C20orf195), mRNA.	150										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CCAGACCCACGGCCCTTCCTG	0.682000														38			21		0	0	1	0	0
SEC24C	9632	broad.mit.edu	37	10	75519788	75519788	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:75519788C>T	uc001juw.3	+	5	674	c.494C>T	c.(493-495)tCg>tTg	p.S165L	SEC24C_uc010qkn.2_Non-coding_Transcript|SEC24C_uc009xrj.2_Missense_Mutation_p.S23L|SEC24C_uc001jux.3_Missense_Mutation_p.S165L|SEC24C_uc010qko.2_Missense_Mutation_p.S23L|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.	165					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)					CCACCAACATCGCTGGCTTCA	0.542000														97			80		0	0	1	0	0
ESPN	83715	broad.mit.edu	37	1	6520166	6520166	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:6520166G>A	uc001amy.3	+	12	2693	c.2525G>A	c.(2524-2526)cGa>cAa	p.R842Q	ESPN_uc001amz.3_Missense_Mutation_p.R276Q	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	842					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	SH3 domain binding|actin filament binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		CCCTGGCAGCGACAGGTCATC	0.657000														15			32		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140720352	140720352	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:140720352C>T	uc003ljk.2	+	0	1999	c.1814C>T	c.(1813-1815)tCt>tTt	p.S605F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.S605F	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	606	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)			GCCTGGCTGTCTTACCACCTG	0.697000														116			96		0	0	1	0	0
LRRC4C	57689	broad.mit.edu	37	11	40136444	40136444	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:40136444C>T	uc021qgf.1	-	0	1399	c.1399G>A	c.(1399-1401)Gat>Aat	p.D467N	LRRC4C_uc001mxc.1_Missense_Mutation_p.D463N|LRRC4C_uc001mxd.1_Missense_Mutation_p.D463N|LRRC4C_uc001mxa.1_Missense_Mutation_p.D467N|LRRC4C_uc001mxb.1_Missense_Mutation_p.D463N	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	467					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CGTGCCTCATCCTGAGACGGT	0.512000														67			59		0	0	1	0	0
HEATR7B2	133558	broad.mit.edu	37	5	41033206	41033206	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:41033206G>A	uc003jmj.4	-	22	2788	c.2298C>T	c.(2296-2298)gtC>gtT	p.V766V	HEATR7B2_uc003jmi.4_Silent_p.V321V	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	766							binding	p.V766V(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CAGCATCTTGGACAGCAATGC	0.453000														59			13		0	0	1	0	0
OR51E1	143503	broad.mit.edu	37	11	4674527	4674527	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:4674527C>T	uc021qcq.1	+	0	771	c.771C>T	c.(769-771)ttC>ttT	p.F257F	OR51E1_uc001lzi.4_Silent_p.F257F	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGTACCTTTCATTGGATTGT	0.507000														125			94		0	0	1	0	0
MYH3	4621	broad.mit.edu	37	17	10542696	10542696	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:10542696G>A	uc002gmq.2	-	23	3109	c.3021C>T	c.(3019-3021)gcC>gcT	p.A1007A		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1007					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GGTCATCCAAGGCCTGCTGGT	0.433000														4			44		0	0	1	0	0
GPHN	10243	broad.mit.edu	37	14	67589068	67589068	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:67589068G>A	uc001xiy.3	+	15	2744	c.1623G>A	c.(1621-1623)acG>acA	p.T541T	GPHN_uc001xix.3_Silent_p.T574T|GPHN_uc010tss.2_Silent_p.T587T|GPHN_uc010tst.2_Silent_p.T510T|GPHN_uc010tsu.2_Silent_p.T464T	NM_001024218	NP_001019389	Q9NQX3	GEPH_HUMAN	Homo sapiens gephyrin (GPHN), transcript variant 2, mRNA.	541	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GTTACCCCACGATCAACTTGG	0.393000			T	MLL	AL									62			34		0	0	1	0	0
ZDHHC8	29801	broad.mit.edu	37	22	20128178	20128179	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:20128178_20128179CC>TT	uc002zrr.2	+	5	806_807	c.699_700CC>TT	c.(697-702)acccga>acTTga	p.R234*	ZDHHC8_uc002zrq.3_Nonsense_Mutation_p.R234*|ZDHHC8_uc010gsa.3_Nonsense_Mutation_p.R40*	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN	Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.	234						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					ACCCTTTCACCCGAGGCTGCTG	0.703000														30			22		0	0	1	0	0
WNT2	7472	broad.mit.edu	37	7	116955301	116955301	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:116955301C>T	uc003viz.3	-	2	712	c.412G>A	c.(412-414)Gat>Aat	p.D138N	WNT2_uc003vja.3_Missense_Mutation_p.D42N	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	138					Wnt receptor signaling pathway, calcium modulating pathway|atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TTCTTTGGATCACAGGAACAG	0.478000														97			40		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72832404	72832404	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:72832404C>A	uc002fck.3	-	8	4850	c.4177G>T	c.(4177-4179)Gtg>Ttg	p.V1393L	ZFHX3_uc002fcl.3_Missense_Mutation_p.V479L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1393					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGATCTGACACCGGCAGCTGA	0.493000														56			38		1.57945e-13	1.58824e-13	1	1	0
IFIT1	3434	broad.mit.edu	37	10	91162512	91162512	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:91162512C>T	uc001kgi.3	+	1	628	c.480C>T	c.(478-480)gcC>gcT	p.A160A	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|IFIT1_uc009xtt.3_Silent_p.A160A|IFIT1_uc001kgj.3_Silent_p.A129A	NM_001548	NP_001539	P09914	IFIT1_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 1 (IFIT1), transcript variant 2, mRNA.	160					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						ATGAACGGGCCAAGGCCTGCT	0.483000														59			46		0	0	1	0	0
DSCAM	1826	broad.mit.edu	37	21	41465764	41465764	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr21:41465764G>A	uc002yyq.1	-	20	4186	c.3734C>T	c.(3733-3735)tCc>tTc	p.S1245F	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1245	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	p.S1245F(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				AATTCTGTAGGAAAACGAGTC	0.483000														44			31		0	0	1	0	0
VENTXP7	391518	broad.mit.edu	37	3	21447950	21447950	+	RNA	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:21447950C>T	uc003ccd.3	+	0		c.733C>T								Homo sapiens VENT homeobox pseudogene 7 (VENTXP7), non-coding RNA.																		CAGCCCTGTCCACGGGGCCCC	0.657000														10			6		0	0	1	0	0
TNN	63923	broad.mit.edu	37	1	175049337	175049337	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:175049337G>A	uc001gkl.1	+	3	936	c.823G>A	c.(823-825)Gag>Aag	p.E275K	TNN_uc010pmx.1_Missense_Mutation_p.E275K	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	275	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.T274K(1)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAAGAACACGGAGGATTCTCT	0.612000														136			39		0	0	1	0	0
MAPK8IP2	23542	broad.mit.edu	37	22	51043437	51043437	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:51043437C>T	uc003bmx.3	+	5	1824	c.1707C>T	c.(1705-1707)ctC>ctT	p.L569L	MAPK8IP2_uc003bmy.3_Silent_p.L542L|MAPK8IP2_uc011asc.2_5'Flank	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	570					MAPKKK cascade|behavioral fear response|dendrite morphogenesis|nonassociative learning|positive regulation of anti-apoptosis|regulation of JNK cascade|regulation of excitatory postsynaptic membrane potential|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	MAP-kinase scaffold activity|beta-amyloid binding|kinesin binding|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCCCTGACCTCACTTTCTCCA	0.652000														71			88		0	0	1	0	0
BPIFB2	80341	broad.mit.edu	37	20	31607537	31607537	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:31607537C>T	uc002wyj.3	+	10	1255	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F		NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN	Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.	354						extracellular region	lipid binding										GCTTTCCAGTCCCTCTTCTCC	0.627000														65			15		0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49691727	49691727	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:49691727C>T	uc003cxe.4	+	4	4852	c.4738C>T	c.(4738-4740)Ccg>Tcg	p.P1580S		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1580					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTCCACCTCCCCGCTCTGCTC	0.622000														112			41		0	0	1	0	0
RRH	10692	broad.mit.edu	37	4	110763752	110763752	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:110763752C>T	uc003hzv.3	+	5	882	c.848C>T	c.(847-849)gCa>gTa	p.A283V		NM_006583	NP_006574	O14718	OPSX_HUMAN	Homo sapiens retinal pigment epithelium-derived rhodopsin homolog (RRH), mRNA.	283					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		CCACTGTTTGCAAAATCTTCT	0.398000														60			44		0	0	1	0	0
DOCK4	9732	broad.mit.edu	37	7	111386434	111386434	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:111386434C>T	uc003vfy.3	-	44	5010	c.4741G>A	c.(4741-4743)Gat>Aat	p.D1581N	DOCK4_uc011kml.2_Missense_Mutation_p.D417N|DOCK4_uc011kmm.2_Missense_Mutation_p.D443N|DOCK4_uc003vfw.3_Missense_Mutation_p.D986N|DOCK4_uc003vfx.3_Missense_Mutation_p.D1536N	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1536	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|SH3 domain binding|guanyl-nucleotide exchange factor activity|receptor tyrosine kinase binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTCTCCCCATCTTCAGGGTGA	0.428000														15			16		0	0	1	0	0
JAKMIP1	152789	broad.mit.edu	37	4	6107636	6107636	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:6107636C>T	uc010idb.1	-	2	674	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.R63Q|JAKMIP1_uc003giu.4_Missense_Mutation_p.R63Q|JAKMIP1_uc011bwc.2_Intron|JAKMIP1_uc003giv.4_Missense_Mutation_p.R63Q|JAKMIP1_uc010ide.3_Missense_Mutation_p.R63Q	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	63	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	p.R63Q(3)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CGTGTGCCGTCGCTGCTCCTG	0.672000														38			39		0	0	1	0	0
ABCA7	10347	broad.mit.edu	37	19	1048932	1048932	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:1048932C>T	uc002lqw.4	+	16	2539	c.2308C>T	c.(2308-2310)Cgg>Tgg	p.R770W	ABCA7_uc010dsb.1_Missense_Mutation_p.R632W	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	770					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|Golgi membrane|endosome membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTTCCTTTTCGGAGGAGCTA	0.612000														17			21		0	0	1	0	0
SYT12	91683	broad.mit.edu	37	11	66807384	66807384	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:66807384G>A	uc009yrl.3	+	3	561	c.331G>A	c.(331-333)Ggg>Agg	p.G111R	SYT12_uc001oju.3_Missense_Mutation_p.G111R	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	111						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CAGTGAACTGGGGCCTCTGGA	0.647000														114			58		0	0	1	0	0
KIF18B	146909	broad.mit.edu	37	17	43011673	43011673	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:43011673C>T	uc010wji.2	-	5	914	c.813G>A	c.(811-813)ctG>ctA	p.L271L	KIF18B_uc002iht.3_Silent_p.L271L|KIF18B_uc010wjh.2_Silent_p.L271L	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CCCCCTCCCGCAGCCGCTCCC	0.617000														23			18		0	0	1	0	0
PI4K2B	55300	broad.mit.edu	37	4	25278737	25278737	+	Silent	SNP	T	C	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:25278737T>C	uc003grk.2	+	9	1507	c.1374T>C	c.(1372-1374)ggT>ggC	p.G458G	PI4K2B_uc011bxs.2_Silent_p.G362G	NM_018323	NP_060793	Q8TCG2	P4K2B_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 beta (PI4K2B), mRNA.	458						cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				GAAGTCAGGGTCGGATTGTCC	0.453000														49			47		0	0	1	0	0
CUBN	8029	broad.mit.edu	37	10	17152971	17152971	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:17152971G>A	uc001ioo.3	-	8	1014	c.962C>T	c.(961-963)cCc>cTc	p.P321L		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	321	EGF-like 4; calcium-binding (Potential).				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACACTCAACGGGTGGAGCCAC	0.507000														62			39		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140181712	140181712	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:140181712C>T	uc003lhf.2	+	0	930	c.930C>T	c.(928-930)ttC>ttT	p.F310F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.F310F	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	325	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATAGATTTCGAGGAAAGTA	0.398000														93			58		0	0	1	0	0
HEPHL1	341208	broad.mit.edu	37	11	93837757	93837757	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:93837757G>A	uc001pep.2	+	15	2903	c.2746G>A	c.(2746-2748)Gga>Aga	p.G916R	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	916	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GAATGAAAAGGGAAGAAGAAG	0.348000														6			24		0	0	1	0	0
ZIM3	114026	broad.mit.edu	37	19	57646628	57646628	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:57646628C>T	uc002qnz.1	-	4	1463	c.1077G>A	c.(1075-1077)ggG>ggA	p.G359G		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G359R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGCTCTCTTCCCAGTGTGAA	0.383000														99			112		0	0	1	0	0
TBR1	10716	broad.mit.edu	37	2	162273385	162273385	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:162273385G>A	uc002ubw.1	+	0	766	c.464G>A	c.(463-465)gGa>gAa	p.G155E	TBR1_uc010foy.2_5'Flank	NM_006593	NP_006584	Q16650	TBR1_HUMAN	Homo sapiens T-box, brain, 1 (TBR1), mRNA.	155						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.G155*(1)|p.N154N(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						ATCACCAACGGAGCCTACAAC	0.677000														82			81		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037720	75037720	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:75037720C>T	uc001dgg.3	-	13	3893	c.3674G>A	c.(3673-3675)gGa>gAa	p.G1225E		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1225	Glu-rich.							p.G1225E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CTGCACCTTTCCTGCTGGCTC	0.627000														41			42		0	0	1	0	0
DNAAF2	55172	broad.mit.edu	37	14	50100934	50100934	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:50100934T>C	uc001wws.4	-	0	1015	c.934A>G	c.(934-936)Agg>Ggg	p.R312G	NEMF_uc010anj.1_Intron|DNAAF2_uc001wwt.4_Missense_Mutation_p.R312G	NM_018139	NP_060609	Q9NVR5	KTU_HUMAN	Homo sapiens dynein, axonemal, assembly factor 2 (DNAAF2), transcript variant 1, mRNA.	312					axonemal dynein complex assembly|ciliary cell motility|flagellar cell motility	cytoplasm				kidney(1)|lung(4)	5						TCAGGTTTCCTCGAGTCGAGG	0.647000														40			20		0	0	1	0	0
CNTN5	53942	broad.mit.edu	37	11	99690452	99690452	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:99690452C>T	uc001pga.3	+	3	737	c.233C>T	c.(232-234)tCc>tTc	p.S78F	CNTN5_uc009ywv.2_Missense_Mutation_p.S78F|CNTN5_uc001pfz.3_Missense_Mutation_p.S78F|CNTN5_uc021qpb.1_Missense_Mutation_p.S78F|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	78					cell adhesion	anchored to membrane|plasma membrane	protein binding	p.S78F(3)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AATTATTATTCCCCCATCAAT	0.438000														5			9		0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92087538	92087538	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:92087538G>A	uc001pdj.4	+	0	2277	c.2260G>A	c.(2260-2262)Gac>Aac	p.D754N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	754	Cadherin 7.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.K753N(1)		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)				CTATGATGCCGACTCTGGCTT	0.398000										TCGA Ovarian(4;0.039)				7			114		0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64769497	64769497	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:64769497C>T	uc003jtp.3	-	1	818	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	2					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)		CACAAAATTTCCATAATTTAG	0.358000														28			56		0	0	1	0	0
ZNF786	136051	broad.mit.edu	37	7	148767784	148767784	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:148767784G>A	uc003wfh.2	-	3	2217	c.2080C>T	c.(2080-2082)Cat>Tat	p.H694Y	ZNF786_uc011kuk.1_Missense_Mutation_p.H657Y|ZNF786_uc003wfi.2_Missense_Mutation_p.H608Y	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	694					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGGCCCTGATGGCTGAGCAGC	0.572000														166			73		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34401385	34401385	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:34401385C>T	uc001bxm.1	-	3	865	c.688G>A	c.(688-690)Gac>Aac	p.D230N	CSMD2_uc001bxn.1_Missense_Mutation_p.D190N	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	190	CUB 2.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGGGGGAAGTCCCACGTGGCG	0.637000														37			24		0	0	1	0	0
SWT1	54823	broad.mit.edu	37	1	185175759	185175759	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:185175759C>T	uc001grg.4	+	12	1950	c.1836C>T	c.(1834-1836)atC>atT	p.I612I	SWT1_uc001grh.4_Silent_p.I612I	NM_001105518	NP_060143	Q5T5J6	SWT1_HUMAN	Homo sapiens SWT1 RNA endoribonuclease homolog (S. cerevisiae) (SWT1), transcript variant 2, mRNA.	612										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						CTCTTTAGATCCTGTACCTGA	0.294000														59			17		0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	16021667	16021667	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:16021667C>T	uc010lsu.3	-	4	842	c.778G>A	c.(778-780)Gga>Aga	p.G260R	MSR1_uc003wwz.3_Missense_Mutation_p.G242R|MSR1_uc003wxa.3_Missense_Mutation_p.G242R|MSR1_uc003wxb.3_Missense_Mutation_p.G242R|MSR1_uc011kxz.2_Missense_Mutation_p.G16R	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	242					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TTCACTTCTCCTTTTATTTCC	0.333000														40			20		0	0	1	0	0
HDAC9	9734	broad.mit.edu	37	7	18631225	18631225	+	Nonsense_Mutation	SNP	A	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:18631225A>T	uc003sui.3	+	3	543	c.502A>T	c.(502-504)Aaa>Taa	p.K168*	HDAC9_uc003sue.3_Nonsense_Mutation_p.K165*|HDAC9_uc011jyd.2_Nonsense_Mutation_p.K165*|HDAC9_uc003suh.3_Nonsense_Mutation_p.K165*|HDAC9_uc003suj.3_Nonsense_Mutation_p.K168*|HDAC9_uc011jya.2_Nonsense_Mutation_p.K207*|HDAC9_uc003sua.1_Nonsense_Mutation_p.K187*|HDAC9_uc003sud.2_Nonsense_Mutation_p.K165*|HDAC9_uc011jyc.2_Nonsense_Mutation_p.K168*|HDAC9_uc011jyb.2_Nonsense_Mutation_p.K165*|HDAC9_uc003suf.2_Nonsense_Mutation_p.K196*|HDAC9_uc010kud.2_Nonsense_Mutation_p.K168*|HDAC9_uc011jye.2_Nonsense_Mutation_p.K137*|HDAC9_uc011jyf.2_Nonsense_Mutation_p.K134*|HDAC9_uc010kue.1_5'UTR	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	165					B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	AACTAATGGAAAAAATCATTC	0.438000														31			19		0	0	1	0	0
IFNA22P	3453	broad.mit.edu	37	9	21278511	21278511	+	RNA	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:21278511C>T	uc003zou.1	-	0		c.52G>A								Homo sapiens interferon, alpha 22, pseudogene (IFNA22P), non-coding RNA.																		AGTATGAAGGCCCTCCTGTTA	0.488000														11			6		0	0	1	0	0
CDC14C	168448	broad.mit.edu	37	7	48964972	48964972	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:48964972A>T	uc010kyv.1	+	0	816	c.704A>T	c.(703-705)aAa>aTa	p.K235I						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		CGTCTGAATAAAAGGATGTAT	0.408000														20			10		0	0	1	0	0
C1orf64	149563	broad.mit.edu	37	1	16332626	16332626	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:16332626G>A	uc001axn.3	+	1	363	c.295G>A	c.(295-297)Ggt>Agt	p.G99S		NM_178840	NP_849162	Q8NEQ6	CA064_HUMAN	Homo sapiens chromosome 1 open reading frame 64 (C1orf64), mRNA.	99										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCCCATGGGTGGGGGATG	0.647000														71			59		0	0	1	0	0
NCKAP5L	57701	broad.mit.edu	37	12	50190819	50190819	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:50190819C>T	uc009zlk.2	-	7	1026	c.824G>A	c.(823-825)gGt>gAt	p.G275D	NCKAP5L_uc001rvc.3_5'Flank|NCKAP5L_uc001rvb.2_5'UTR	NM_001037806	NP_001032895	Q9HCH0	NCK5L_HUMAN	Homo sapiens NCK-associated protein 5-like (NCKAP5L), mRNA.	271	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CCTGCTAGGACCCCAGGGCCG	0.692000														6			6		0	0	1	0	0
MMP2	4313	broad.mit.edu	37	16	55532201	55532201	+	Splice_Site	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:55532201G>A	uc002ehz.4	+	11	1921	c.1610_splice	c.e11-1	p.G537_splice	MMP2_uc010vhd.2_Splice_Site_p.G461_splice|MMP2_uc010ccc.3_Splice_Site_p.G487_splice	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	537	Hemopexin-like 2.|Required for inhibitor TIMP2 binding.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	TCCACCCCAGGGAATGAATAC	0.612000														93			41		0	0	1	0	0
KCNK10	54207	broad.mit.edu	37	14	88729750	88729750	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:88729750C>T	uc001xwm.3	-	1	320	c.198G>A	c.(196-198)ggG>ggA	p.G66G	KCNK10_uc001xwn.3_Silent_p.G66G|KCNK10_uc001xwo.3_Silent_p.G61G	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	61					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCTGCAAGCCCCCTTGGGAGG	0.612000														189			86		0	0	1	0	0
CHD2	1106	broad.mit.edu	37	15	93522380	93522380	+	Silent	SNP	T	C	C	rs112279925		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:93522380T>C	uc002bsp.3	+	21	3318	c.2743T>C	c.(2743-2745)Tta>Cta	p.L915L	CHD2_uc002bso.1_Silent_p.L915L|CHD2_uc010bog.1_3'UTR|CHD2_uc010boh.1_Silent_p.L109L	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	915	Helicase C-terminal.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TATTTACCGCTTAGTTACAAA	0.463000														131			197		0	0	1	0	0
SHANK1	50944	broad.mit.edu	37	19	51219675	51219675	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:51219675C>T	uc002psx.1	-	1	335	c.316G>A	c.(316-318)Gcc>Acc	p.A106T		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	106					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCGCTCAGGGCACAGAGCACC	0.637000														95			30		0	0	1	0	0
DCDC5	100506627	broad.mit.edu	37	11	31128392	31128392	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:31128392G>A	uc009yjk.1	-	0	116	c.47C>T	c.(46-48)tCg>tTg	p.S16L	DCDC5_uc009yjl.1_5'UTR|DCDC5_uc001msu.2_Missense_Mutation_p.S187L	NM_020869	NP_065920	Q6ZRR9	DCDC5_HUMAN	Homo sapiens doublecortin domain containing 5 (DCDC5), mRNA.	72	Doublecortin 1.				intracellular signal transduction			p.M16I(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(17)|prostate(1)|stomach(1)	31						ATTCTTCAGCGAAAGTGGATT	0.428000											OREG0020856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		66			53		0	0	1	0	0
JAKMIP2	9832	broad.mit.edu	37	5	147040619	147040619	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:147040619C>T	uc010jgo.1	-	1	667	c.519G>A	c.(517-519)atG>atA	p.M173I	JAKMIP2_uc003loq.1_Missense_Mutation_p.M173I|JAKMIP2_uc011dbx.1_Missense_Mutation_p.M131I|JAKMIP2_uc003lor.1_Missense_Mutation_p.M173I|LOC153469_uc003lop.1_3'UTR	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	173						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTTGGATCATATTGCTCA	0.522000														162			116		0	0	1	0	0
WDR85	92715	broad.mit.edu	37	9	140450052	140450052	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:140450052G>A	uc004cnk.1	-	8	1156	c.998C>T	c.(997-999)tCg>tTg	p.S333L	WDR85_uc004cni.3_Non-coding_Transcript|WDR85_uc004cnj.1_Missense_Mutation_p.S62L|WDR85_uc004cnm.1_Missense_Mutation_p.S94L	NM_138778	NP_620133	Q9BTV6	WDR85_HUMAN	Homo sapiens WD repeat domain 85 (WDR85), mRNA.	333					peptidyl-diphthamide biosynthetic process from peptidyl-histidine					breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	8	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.00029)|Epithelial(140;0.000509)		ATACACCAGCGAGTCGGGCAA	0.597000														55			47		0	0	1	0	0
CXorf23	256643	broad.mit.edu	37	X	19984422	19984422	+	Silent	SNP	A	G	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:19984422A>G	uc004czp.3	-	1	387	c.387T>C	c.(385-387)tcT>tcC	p.S129S	CXorf23_uc011mjg.2_5'Flank|CXorf23_uc004czo.3_Silent_p.S79S	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA.	129						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TCTGGGGATAAGAATTCCTTT	0.468000														7			83		0	0	1	0	0
OR10W1	81341	broad.mit.edu	37	11	58034854	58034854	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:58034854G>A	uc001nmq.1	-	0	879	c.477C>T	c.(475-477)ttC>ttT	p.F159F		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA.	159					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				GAGCCTGGCAGAATGGCAGAG	0.493000														18			32		0	0	1	0	0
PPP1R13L	10848	broad.mit.edu	37	19	45885815	45885815	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:45885815C>T	uc002pbn.3	-	11	2495	c.2418G>A	c.(2416-2418)caG>caA	p.Q806Q	PPP1R13L_uc002pbm.3_Silent_p.Q385Q|PPP1R13L_uc002pbo.3_Silent_p.Q806Q	NM_006663	NP_006654	Q8WUF5	IASPP_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.	806	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CGTAGCCCTCCTGGCCGTGCA	0.697000														183			74		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51255021	51255021	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:51255021C>T	uc021vhh.1	-	0	1312	c.391G>A	c.(391-393)Gac>Aac	p.D131N	NRXN1_uc021vhg.1_Missense_Mutation_p.D131N|NRXN1_uc021vhi.1_Missense_Mutation_p.D131N|NRXN1_uc021vhj.1_Missense_Mutation_p.D131N|NRXN1_uc021vhk.1_Missense_Mutation_p.D131N	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	131	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TCCACCTGGTCGATGAAGAGC	0.682000														44			36		0	0	1	0	0
FOXK1	221937	broad.mit.edu	37	7	4794101	4794101	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:4794101C>T	uc003snc.1	+	2	768	c.758C>T	c.(757-759)tCc>tTc	p.S253F	FOXK1_uc003sna.1_Missense_Mutation_p.S90F|FOXK1_uc003snb.1_Missense_Mutation_p.S253F	NM_001037165	NP_001032242	P85037	FOXK1_HUMAN	Homo sapiens forkhead box K1 (FOXK1), mRNA.	253					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		GTCCCCAACTCCTGCCCAGCC	0.622000														109			43		0	0	1	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54537612	54537612	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:54537612C>T	uc003dhf.3	+	4	523	c.475C>T	c.(475-477)Cat>Tat	p.H159Y	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Missense_Mutation_p.H65Y|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	159						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.H159D(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CCCAAATGACCATTTTAATAA	0.403000														32			51		0	0	1	0	0
GFRAL	389400	broad.mit.edu	37	6	55198717	55198717	+	Silent	SNP	T	G	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:55198717T>G	uc003pcm.1	+	2	377	c.291T>G	c.(289-291)ctT>ctG	p.L97L		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	97						integral to membrane	receptor activity	p.L97I(1)		NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACAAACTGCTTGGAAAAAAAT	0.299000														56			47		0	0	1	0	0
C1orf27	54953	broad.mit.edu	37	1	186352158	186352158	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:186352158C>T	uc021pgj.1	+	1	123	c.104C>T	c.(103-105)tCg>tTg	p.S35L	MIR548F1_uc021pgf.1_Intron|C1orf27_uc021pgg.1_Missense_Mutation_p.S35L|C1orf27_uc021pgh.1_Missense_Mutation_p.S35L|C1orf27_uc021pgi.1_Missense_Mutation_p.S35L|C1orf27_uc021pgk.1_Missense_Mutation_p.S35L|C1orf27_uc021pgl.1_Missense_Mutation_p.S35L	NM_017847	NP_060317	Q5SWX8	ODR4_HUMAN	Homo sapiens chromosome 1 open reading frame 27 (C1orf27), transcript variant 1, mRNA.	35						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						TTGAAGTGTTCGTCACAAAAG	0.368000														4			22		0	0	1	0	0
RARG	5916	broad.mit.edu	37	12	53605501	53605501	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:53605501G>A	uc001scf.3	-	9	1816	c.1324C>T	c.(1324-1326)Cct>Tct	p.P442S	RARG_uc001scd.3_Missense_Mutation_p.P431S|RARG_uc010sob.2_Missense_Mutation_p.P420S|RARG_uc001scg.3_Missense_Mutation_p.P370S|RARG_uc010soc.2_Missense_Mutation_p.P321S|RARG_uc001sce.3_Missense_Mutation_p.P442S	NM_000966	NP_001230660	P13631	RARG_HUMAN	Homo sapiens retinoic acid receptor, gamma (RARG), transcript variant 1, mRNA.	442					canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGGCCCCCAGGAACCTCATCC	0.632000														13			25		0	0	1	0	0
POU4F3	5459	broad.mit.edu	37	5	145719546	145719546	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:145719546G>A	uc003loa.2	+	1	645	c.556G>A	c.(556-558)Gag>Aag	p.E186K		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	Homo sapiens POU class 4 homeobox 3 (POU4F3), mRNA.	186	POU-specific.				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGACCCGCGCGAGCTGGAAGC	0.682000														36			42		0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17232251	17232251	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:17232251G>A	uc002dfa.3	-	7	1810	c.1725C>T	c.(1723-1725)tcC>tcT	p.S575S		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	575					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGTCATTGGGGGAGCAGCCGC	0.572000														69			27		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106478214	106478214	+	RNA	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:106478214G>A	uc021ser.1	-	2451		c.42859C>T								Parts of antibodies, mostly variable regions.																		CGACTCTTGAGGGAGGGGTTG	0.577000														627			160		0	0	1	0	0
TLR5	7100	broad.mit.edu	37	1	223285313	223285313	+	Missense_Mutation	SNP	G	A	A	rs139394912		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:223285313G>A	uc021pjl.1	-	0	1061	c.1061C>T	c.(1060-1062)tCg>tTg	p.S354L	TLR5_uc001hnv.2_Missense_Mutation_p.S354L|TLR5_uc001hnw.2_Missense_Mutation_p.S354L	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	354					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)		ATAGAAATTCGAACTGTAAAG	0.348000														49			136		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106347349	106347349	+	Splice_Site	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:106347349C>T	uc021ser.1	-	3973		c.59176_splice	c.e3973+1							Parts of antibodies, mostly variable regions.																		CTCTCTCTGCCTTCGGCTGAC	0.567000														48			89		0	0	1	0	0
S1PR4	8698	broad.mit.edu	37	19	3179147	3179147	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:3179147C>T	uc002lxg.3	+	0	412	c.357C>T	c.(355-357)ttC>ttT	p.F119F		NM_003775	NP_003766	O95977	S1PR4_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 4 (S1PR4), mRNA.	119					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.F119F(3)		breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						CCCAGTGGTTCCTACGGGAGG	0.697000														104			49		0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222716972	222716972	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:222716972G>A	uc001hnh.1	-	1	939	c.881C>T	c.(880-882)tCg>tTg	p.S294L		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	294					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)		GTCCAGGCACGAATAATAAAT	0.468000														418			93		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52387651	52387651	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:52387651C>T	uc003xqu.4	-	6	676	c.575G>A	c.(574-576)gGg>gAg	p.G192E		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	192	LRRCT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TAAAAGCTCCCCCAGCCACAT	0.522000														4			44		0	0	1	0	0
HERC2P4	440362	broad.mit.edu	37	16	32163545	32163545	+	RNA	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:32163545C>T	uc002ecx.3	-	1		c.226G>A								Homo sapiens hect domain and RLD 2 pseudogene 4 (HERC2P4), non-coding RNA.																		CCAAACTCATCGTGCACAATT	0.582000														81			31		0	0	1	0	0
MARVELD2	153562	broad.mit.edu	37	5	68715373	68715373	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:68715373A>G	uc003jwq.3	+	1	235	c.161A>G	c.(160-162)cAg>cGg	p.Q54R	MARVELD2_uc010ixf.3_Missense_Mutation_p.Q54R|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	54					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CTCCCATTACAGCCACCATTC	0.542000														76			96		0	0	1	0	0
SLC1A4	6509	broad.mit.edu	37	2	65245733	65245733	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:65245733C>T	uc010yqa.2	+	6	1567	c.1284C>T	c.(1282-1284)gtC>gtT	p.V428V	SLC1A4_uc010ypz.2_Silent_p.V130V|SLC1A4_uc002sdh.3_Silent_p.V208V	NM_003038	NP_003029	P43007	SATT_HUMAN	Homo sapiens solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 (SLC1A4), transcript variant 1, mRNA.	428					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|chloride channel activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CTGGAGGGGTCCTCACCATTG	0.567000														64			56		0	0	1	0	0
ULK1	8408	broad.mit.edu	37	12	132405686	132405686	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:132405686G>A	uc001uje.3	+	26	3271	c.3003G>A	c.(3001-3003)gaG>gaA	p.E1001E		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	1001					autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity	p.R1000H(1)		breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		AGCACCGTGAGGGCTGCGTCC	0.662000														57			27		0	0	1	0	0
HTR3A	3359	broad.mit.edu	37	11	113849954	113849954	+	Splice_Site	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:113849954G>A	uc010rxb.2	+	3	471	c.238_splice	c.e3-1	p.D80_splice	HTR3A_uc010rxa.2_Splice_Site_p.D80_splice|HTR3A_uc009yyx.3_Splice_Site|HTR3A_uc010rxc.2_Splice_Site_p.D59_splice	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	74					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TCCTTTCCCAGGATGAGAAGA	0.597000														11			75		0	0	1	0	0
LRRC4B	94030	broad.mit.edu	37	19	51020887	51020887	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:51020887G>A	uc002pss.3	-	2	2220	c.2083C>T	c.(2083-2085)Cac>Tac	p.H695Y	ASPDH_uc002psr.4_5'Flank	NM_001080457	NP_001073926	Q9NT99	LRC4B_HUMAN	Homo sapiens leucine rich repeat containing 4B (LRRC4B), mRNA.	695						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		AGAGGTTCGTGGATGGAGTTG	0.697000														58			20		0	0	1	0	0
TRPM4	54795	broad.mit.edu	37	19	49714445	49714445	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:49714445G>A	uc002pmw.3	+	23	3667	c.3559G>A	c.(3559-3561)Ggg>Agg	p.G1187R	TRPM4_uc010emu.3_Missense_Mutation_p.G1042R|TRPM4_uc010yak.2_Missense_Mutation_p.G651R|TRPM4_uc002pmx.3_Missense_Mutation_p.G1013R|TRPM4_uc010emv.3_Missense_Mutation_p.G1072R|TRPM4_uc010yal.2_Missense_Mutation_p.G833R|TRPM4_uc002pmy.3_Missense_Mutation_p.G529R	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	1187					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	Golgi apparatus|endoplasmic reticulum|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCGCGTCCTGGGGTGGGTGGC	0.687000														12			20		0	0	1	0	0
CDCA2	157313	broad.mit.edu	37	8	25365254	25365254	+	Nonstop_Mutation	SNP	A	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:25365254A>T	uc003xep.1	+	14	3549	c.3072A>T	c.(3070-3072)taA>taT	p.*1024Y	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_3'UTR|CDCA2_uc003xeq.1_Nonstop_Mutation_p.*1009Y|CDCA2_uc003xer.1_Nonstop_Mutation_p.*687Y	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	0					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		GAAAGCAGTAATTGACATTTC	0.433000														62			27		0	0	1	0	0
CEACAM5	1048	broad.mit.edu	37	19	42231220	42231220	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:42231220G>T	uc002orl.3	+	8	2214	c.2093G>T	c.(2092-2094)gGg>gTg	p.G698V	CEACAM5_uc002orj.1_Missense_Mutation_p.G697V	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	698						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)		GTGCTGGTTGGGGTTGCTCTG	0.493000														387			181		2.02302e-115	2.07762e-115	1	1	0
MLH1	4292	broad.mit.edu	37	3	37081681	37081681	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:37081681C>T	uc003cgl.3	+	13	1761	c.1563C>T	c.(1561-1563)ctC>ctT	p.L521L	MLH1_uc011aye.2_Silent_p.L280L|MLH1_uc011ayb.2_Silent_p.L280L|MLH1_uc010hge.3_Silent_p.L521L|MLH1_uc011ayc.2_Silent_p.L423L|MLH1_uc011ayd.2_Silent_p.L280L|MLH1_uc003cgo.3_Silent_p.L280L|MLH1_uc003cgn.4_Silent_p.L280L|MLH1_uc010hgj.1_Silent_p.L163L|MLH1_uc010hgk.3_Silent_p.L163L|MLH1_uc010hgl.1_Silent_p.L96L|MLH1_uc010hgn.3_Silent_p.L163L|MLH1_uc010hgm.3_Intron|MLH1_uc010hgo.3_Intron|MLH1_uc010hgp.3_5'Flank|MLH1_uc010hgq.3_5'Flank	NM_000249	NP_001161091	P40692	MLH1_HUMAN	Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1, mRNA.	521	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	MutLalpha complex|MutLbeta complex|chiasma|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TTGCAGTTCTCCGGGAGATGT	0.458000		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome					51			79		0	0	1	0	0
OSGIN1	29948	broad.mit.edu	37	16	83994304	83994304	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:83994304G>A	uc002fha.3	+	4	584	c.584G>A	c.(583-585)cGg>cAg	p.R195Q	OSGIN1_uc002fhb.3_Missense_Mutation_p.R112Q|OSGIN1_uc002fhc.3_Missense_Mutation_p.R112Q	NM_182981	NP_892026	Q9UJX0	OSGI1_HUMAN	Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.	195					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						TGGAAGCACCGGAAGGAGCAC	0.657000														54			30		0	0	1	0	0
ABCB5	340273	broad.mit.edu	37	7	20739455	20739455	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:20739455G>A	uc010kuh.3	+	17	2399	c.2162G>A	c.(2161-2163)gGa>gAa	p.G721E	ABCB5_uc003suw.4_Missense_Mutation_p.G276E	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	276	ABC transporter 2.				regulation of membrane potential	Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAGATGTTTGGAAATAATGAT	0.294000														21			27		0	0	1	0	0
CACNA1I	8911	broad.mit.edu	37	22	40073355	40073355	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:40073355C>T	uc003ayc.3	+	29	4864	c.4864C>T	c.(4864-4866)Ctg>Ttg	p.L1622L	CACNA1I_uc003ayd.3_Silent_p.L1587L|CACNA1I_uc003aye.3_Silent_p.L1537L|CACNA1I_uc003ayf.3_Silent_p.L1502L	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1622					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGTGGGCAACCTGGGCCTCCT	0.677000														29			8		0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5058535	5058535	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:5058535C>T	uc002cye.2	+	13	1866	c.1686C>T	c.(1684-1686)gcC>gcT	p.A562A		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	562	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GGCTGGGCGCCCGGGAACCGG	0.662000														25			32		0	0	1	0	0
ALG10	84920	broad.mit.edu	37	12	34179674	34179674	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:34179674C>T	uc001rlm.3	+	2	1565	c.1246C>T	c.(1246-1248)Cgt>Tgt	p.R416C		NM_032834	NP_116223	Q5BKT4	AG10A_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog (S. pombe) (ALG10), mRNA.	416					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				GCTGGAATTTCGTTACTTCAT	0.348000														161			46		0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13427930	13427930	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:13427930G>A	uc002mwy.3	-	10	1787	c.1551C>T	c.(1549-1551)ttC>ttT	p.F517F	CACNA1A_uc010dzc.2_Silent_p.F43F|CACNA1A_uc010xnd.2_Silent_p.F517F|CACNA1A_uc021ups.1_Silent_p.F517F|CACNA1A_uc010xne.2_Silent_p.F517F|CACNA1A_uc010dze.2_Silent_p.F517F|CACNA1A_uc021upt.1_Silent_p.F518F	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	518					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	ACTCACAAAGGAAGTCGGAGA	0.502000														29			26		0	0	1	0	0
CORO2B	10391	broad.mit.edu	37	15	68987482	68987482	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:68987482G>A	uc002arj.4	+	2	514	c.220G>A	c.(220-222)Ggc>Agc	p.G74S	CORO2B_uc021spj.1_Missense_Mutation_p.G69S|CORO2B_uc010bic.3_Missense_Mutation_p.G69S	NM_006091	NP_006082	Q9UQ03	COR2B_HUMAN	Homo sapiens coronin, actin binding protein, 2B (CORO2B), transcript variant 1, mRNA.	74					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCTGCAGACAGGCAGGATTGA	0.527000														53			71		0	0	1	0	0
MAN2B2	23324	broad.mit.edu	37	4	6611628	6611628	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:6611628T>C	uc003gjf.1	+	12	2146	c.2110T>C	c.(2110-2112)Tac>Cac	p.Y704H	MAN2B2_uc003gje.1_Missense_Mutation_p.Y704H|MAN2B2_uc011bwf.1_Missense_Mutation_p.Y653H	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	704					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	p.E703Q(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						AGAGCAGGAGTACCAAGCCGG	0.597000														35			29		0	0	1	0	0
TECTA	7007	broad.mit.edu	37	11	120998881	120998881	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:120998881C>T	uc010rzo.2	+	7	2195	c.2195C>T	c.(2194-2196)cCc>cTc	p.P732L		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	732	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TACGCCTTCCCCTCCGAGTTC	0.612000														20			129		0	0	1	0	0
KIAA0564	23078	broad.mit.edu	37	13	42524105	42524105	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr13:42524105G>A	uc001uyj.3	-	1	278	c.208C>T	c.(208-210)Cct>Tct	p.P70S	KIAA0564_uc001uyk.3_Missense_Mutation_p.P70S	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	70						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)		GGATTCTTAGGAATTTTCAAC	0.264000														0			34		0	0	1	0	0
CACNA1S	779	broad.mit.edu	37	1	201046165	201046165	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:201046165G>A	uc001gvv.3	-	11	1937	c.1710C>T	c.(1708-1710)atC>atT	p.I570I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	570					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CGAAGATGACGATGAAGAGGA	0.562000														251			71		0	0	1	0	0
KLF11	8462	broad.mit.edu	37	2	10187786	10187786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:10187786C>T	uc002raf.1	+	2	484	c.322C>T	c.(322-324)Cct>Tct	p.P108S	KLF11_uc021vdq.1_Missense_Mutation_p.P91S|KLF11_uc010yjc.2_Missense_Mutation_p.P91S	NM_003597	NP_001171189	O14901	KLF11_HUMAN	Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA.	108					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GTGCATAACTCCTCCTCAGAG	0.413000														43			34		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21136605	21136605	+	Missense_Mutation	SNP	C	T	T	rs139455188	by1000genomes	TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:21136605C>T	uc010vbe.2	-	8	1295	c.1295G>A	c.(1294-1296)cGa>cAa	p.R432Q	DNAH3_uc002die.2_Missense_Mutation_p.R403Q	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	432	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R432Q(3)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTCAATGTTTCGACTTGAGTC	0.473000														68			62		0	0	1	0	0
PTPRT	11122	broad.mit.edu	37	20	40790031	40790031	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:40790031C>T	uc002xkg.3	-	16	2827	c.2643G>A	c.(2641-2643)atG>atA	p.M881I	PTPRT_uc010ggj.3_Missense_Mutation_p.M900I|PTPRT_uc010ggi.3_Missense_Mutation_p.M84I	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	881					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)				GGCCTCTCTTCATCTGCGTGA	0.562000														147			60		0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	336800	336800	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:336800G>A	uc001qic.2	-	7	956	c.866C>T	c.(865-867)tCc>tTc	p.S289F	SLC6A13_uc009zdj.2_Missense_Mutation_p.S289F|SLC6A13_uc010sdl.2_Missense_Mutation_p.S197F|SLC6A13_uc010sdm.1_Missense_Mutation_p.S170F	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	289					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GATGGCGAAGGAGAAGAATAT	0.567000														35			51		0	0	1	0	0
ARHGAP25	9938	broad.mit.edu	37	2	69049857	69049857	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:69049857G>A	uc010fdg.3	+	9	2005	c.1586G>A	c.(1585-1587)gGa>gAa	p.G529E	ARHGAP25_uc010yql.2_Missense_Mutation_p.G489E|ARHGAP25_uc002sew.3_Missense_Mutation_p.G521E|ARHGAP25_uc002sex.3_Missense_Mutation_p.G522E	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	528					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GACTCCAAGGGAGATACTCTT	0.532000														88			83		0	0	1	0	0
SCAI	286205	broad.mit.edu	37	9	127765843	127765843	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:127765843A>G	uc004bpd.3	-	10	1059	c.937T>C	c.(937-939)Ttc>Ctc	p.F313L	SCAI_uc004bpe.3_Missense_Mutation_p.F290L|SCAI_uc010mwu.3_Non-coding_Transcript	NM_173690	NP_775961	Q8N9R8	SCAI_HUMAN	Homo sapiens suppressor of cancer cell invasion (SCAI), transcript variant 1, mRNA.	290					negative regulation of Rho protein signal transduction|negative regulation of cell migration|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						AGTTCACTGAACTTAACCTGC	0.383000														38			43		0	0	1	0	0
SLC8A1	6546	broad.mit.edu	37	2	40657369	40657369	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:40657369G>A	uc002rrx.3	-	0	76	c.52C>T	c.(52-54)Cat>Tat	p.H18Y	SLC8A1_uc002rry.3_Missense_Mutation_p.H18Y|SLC8A1_uc002rsb.2_Missense_Mutation_p.H18Y|SLC8A1_uc002rrz.3_Missense_Mutation_p.H18Y|SLC8A1_uc002rsa.3_Missense_Mutation_p.H18Y|SLC8A1_uc002rsd.4_Missense_Mutation_p.H18Y|SLC8A1_uc010fan.1_Missense_Mutation_p.H18Y|SLC8A1_uc002rsc.1_Missense_Mutation_p.H18Y	NM_021097	NP_066920	P32418	NAC1_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 1 (SLC8A1), transcript variant A, mRNA.	18					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	ACTAACAGATGAAATCCCATT	0.418000														40			19		0	0	1	0	0
CNTN6	27255	broad.mit.edu	37	3	1418755	1418756	+	Missense_Mutation	DNP	GG	CA	CA			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:1418755_1418756GG>CA	uc003boz.3	+	16	2429_2430	c.2162_2163GG>CA	c.(2161-2163)tgg>tCA	p.W721S	CNTN6_uc011asj.2_Missense_Mutation_p.W649S|CNTN6_uc003bpa.3_Missense_Mutation_p.W721S	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	721	Fibronectin type-III 2.				Notch signaling pathway|axon guidance|cell adhesion|central nervous system development	anchored to membrane|plasma membrane		p.W721*(2)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTCATTACGTGGGAGGTAATTT	0.386000														104			32		0	0	1	0	0
GPR133	283383	broad.mit.edu	37	12	131466439	131466439	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:131466439T>G	uc010tbm.2	+	5	976	c.417T>G	c.(415-417)ttT>ttG	p.F139L	GPR133_uc001uit.4_Missense_Mutation_p.F107L	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	107					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GGGTCACGTTTTCTTTTTTCT	0.463000														46			100		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93967181	93967181	+	Splice_Site	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:93967181C>T	uc003poe.3	-	12	2413	c.2172_splice	c.e12+1	p.R724_splice	EPHA7_uc003pof.3_Splice_Site_p.R719_splice|EPHA7_uc011eac.2_Splice_Site_p.R720_splice	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	724	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GGTACTTACCCTGAGAAATGC	0.323000														13			14		0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3240236	3240236	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:3240236G>A	uc004crg.4	-	4	3647	c.3490C>T	c.(3490-3492)Cac>Tac	p.H1164Y		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1164						extracellular region		p.R1163C(1)		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)				TTGTGCCGGTGGCGGAATTTG	0.498000														11			94		0	0	1	0	0
GRIN2A	2903	broad.mit.edu	37	16	9857975	9857975	+	Silent	SNP	G	A	A	rs150487431		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:9857975G>A	uc010uym.2	-	13	3736	c.3426C>T	c.(3424-3426)ccC>ccT	p.P1142P	GRIN2A_uc002czo.4_Silent_p.P1142P|GRIN2A_uc010uyn.2_Silent_p.P985P|GRIN2A_uc002czr.4_Silent_p.P1142P	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1142					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCACGTTCTCGGGCAGGGTCA	0.522000														75			80		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26915863	26915863	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:26915863C>T	uc003jgs.1	-	2	567	c.398G>A	c.(397-399)aGa>aAa	p.R133K	CDH9_uc010iug.3_Missense_Mutation_p.R133K	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	133	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R133I(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CCCAGTTTTTCTGTCTATAGC	0.368000														169			87		0	0	1	0	0
IQGAP3	128239	broad.mit.edu	37	1	156508826	156508826	+	Splice_Site	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:156508826C>T	uc001fpf.3	-	26	3132	c.3057_splice	c.e26-1	p.K1019_splice		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	1019	Ras-GAP.				small GTPase mediated signal transduction	intracellular	Ras GTPase activator activity|calmodulin binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACCTTTGACCTGTGGTTTAA	0.537000														68			13		0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222721094	222721094	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:222721094C>T	uc001hnh.1	-	0	351	c.293G>A	c.(292-294)gGa>gAa	p.G98E		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	98					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)		AATGTAATCTCCACACAGCTC	0.547000														57			155		0	0	1	0	0
MALT1	10892	broad.mit.edu	37	18	56363682	56363682	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr18:56363682C>T	uc002lhm.1	+	2	719	c.461C>T	c.(460-462)cCt>cTt	p.P154L	MALT1_uc002lhn.1_Missense_Mutation_p.P154L	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.	154	Ig-like C2-type 1.				T cell receptor signaling pathway|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|positive regulation of interleukin-2 production|positive regulation of phosphorylation|positive regulation of protein ubiquitination|protein oligomerization|proteolysis	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						ACTGGACATCCTTTTGTTCAA	0.323000			T	BIRC3	MALT									36			46		0	0	1	0	0
SGK223	157285	broad.mit.edu	37	8	8234497	8234497	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:8234497G>A	uc003wsh.4	-	1	1422	c.1422C>T	c.(1420-1422)gtC>gtT	p.V474V		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	474							ATP binding|non-membrane spanning protein tyrosine kinase activity										GGGCCGCCATGACTGTGATGG	0.642000														43			67		0	0	1	0	0
TNS3	64759	broad.mit.edu	37	7	47408077	47408077	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:47408077G>A	uc003tnw.3	-	16	2524	c.2166C>T	c.(2164-2166)gcC>gcT	p.A722A	TNS3_uc022acn.1_Silent_p.A279A	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	722						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGCTACCGAGGGCGTTCATGT	0.652000														113			170		0	0	1	0	0
MEGF8	1954	broad.mit.edu	37	19	42848673	42848673	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:42848673C>T	uc002otl.4	+	10	2504	c.1869C>T	c.(1867-1869)gcC>gcT	p.A623A	MEGF8_uc002otm.4_Silent_p.A164A	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	626						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCCCACAGCCCCTCCACGGG	0.716000														23			10		0	0	1	0	0
PALMD	54873	broad.mit.edu	37	1	100155125	100155125	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:100155125G>A	uc001dsg.3	+	6	1752	c.1309G>A	c.(1309-1311)Gat>Aat	p.D437N		NM_017734	NP_060204	Q9NP74	PALMD_HUMAN	Homo sapiens palmdelphin (PALMD), mRNA.	437					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		GACAGGATATGATGGGATCAT	0.473000														30			25		0	0	1	0	0
THBS3	7059	broad.mit.edu	37	1	155170795	155170795	+	Splice_Site	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:155170795C>T	uc001fix.3	-	13	1546	c.1441_splice	c.e13-1	p.D481_splice	THBS3_uc021pat.1_Splice_Site|THBS3_uc010pfu.2_Splice_Site_p.D361_splice|THBS3_uc009wqi.3_Splice_Site_p.D472_splice|THBS3_uc001fiy.3_Splice_Site_p.D10_splice|THBS3_uc010pfv.2_Splice_Site|THBS3_uc001fja.2_Splice_Site	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	481					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGGCAGTTGTCCTAAAGTTCA	0.557000														131			337		0	0	1	0	0
SERPINB2	5055	broad.mit.edu	37	18	61569069	61569069	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr18:61569069C>T	uc010xeu.2	+	6	964	c.631C>T	c.(631-633)Cca>Tca	p.P211S	SERPINB2_uc002ljo.3_Missense_Mutation_p.P211S|SERPINB2_uc002ljp.1_Missense_Mutation_p.P16S|SERPINB2_uc002ljq.1_Missense_Mutation_p.P16S	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	211					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	Golgi apparatus|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GTGGAAAACTCCATTTGAGAA	0.398000														79			21		0	0	1	0	0
TMEM183B	653659	broad.mit.edu	37	1	202984110	202984110	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:202984110C>T	uc001gyu.1	+	3	521	c.461C>T	c.(460-462)tCc>tTc	p.S154F	TMEM183B_uc009xai.1_Missense_Mutation_p.S154F|TMEM183B_uc001gyv.1_Non-coding_Transcript|TMEM183B_uc001gyw.1_Missense_Mutation_p.S153F	NM_001079809	NP_001073277	Q1AE95	T183B_HUMAN	Homo sapiens transmembrane protein 183B (TMEM183B), mRNA.	154						integral to membrane								BRCA - Breast invasive adenocarcinoma(75;0.18)			GTGAATTTTTCCCTGATTTGT	0.488000														95			23		0	0	1	0	0
OR6C65	403282	broad.mit.edu	37	12	55794744	55794744	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:55794744C>T	uc010spl.2	+	0	432	c.432C>T	c.(430-432)atC>atT	p.I144I		NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 65 (OR6C65), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGCTTGTAATCAGCTCCTGGC	0.428000														87			129		0	0	1	0	0
RUNX1T1	862	broad.mit.edu	37	8	92972505	92972505	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:92972505C>T	uc022axs.1	-	11	2144	c.1957G>A	c.(1957-1959)Gga>Aga	p.G653R	RUNX1T1_uc003yfc.2_Missense_Mutation_p.G567R|RUNX1T1_uc010mam.3_Missense_Mutation_p.G567R|RUNX1T1_uc003yfe.2_Missense_Mutation_p.G557R|RUNX1T1_uc003yfd.3_Missense_Mutation_p.G594R|RUNX1T1_uc022axo.1_Missense_Mutation_p.G594R|RUNX1T1_uc010mao.3_Missense_Mutation_p.G567R|RUNX1T1_uc011lgi.2_Missense_Mutation_p.G605R|RUNX1T1_uc022axp.1_Missense_Mutation_p.G594R|RUNX1T1_uc022axq.1_Missense_Mutation_p.G594R|RUNX1T1_uc022axr.1_Missense_Mutation_p.G594R|RUNX1T1_uc022axt.1_Missense_Mutation_p.G594R|RUNX1T1_uc022axu.1_Missense_Mutation_p.G574R|RUNX1T1_uc022axv.1_Missense_Mutation_p.G594R|RUNX1T1_uc010man.2_Missense_Mutation_p.G219R|RUNX1T1_uc003yfb.2_Missense_Mutation_p.G557R	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	594					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			GAAGGGGTTCCCGGGGTGGTT	0.592000														4			18		0	0	1	0	0
AADACL3	126767	broad.mit.edu	37	1	12785440	12785440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:12785440C>T	uc009vnn.1	+	3	763	c.530C>T	c.(529-531)tCg>tTg	p.S177L	AADACL3_uc001aug.1_Missense_Mutation_p.S107L	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	177							hydrolase activity	p.H177Q(1)		breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CAAACCCCTTCGTTTCAACAG	0.493000														174			114		0	0	1	0	0
CAPN11	11131	broad.mit.edu	37	6	44147820	44147820	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:44147820C>T	uc003owt.1	+	13	1598	c.1560C>T	c.(1558-1560)atC>atT	p.I520I	CAPN11_uc011dvn.2_Silent_p.I174I	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	520	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	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)			GGGAATATATCATTATTCCCT	0.542000														69			30		0	0	1	0	0
SERPINI1	5274	broad.mit.edu	37	3	167508241	167508241	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:167508241C>T	uc003ffa.4	+	2	530	c.332C>T	c.(331-333)tCc>tTc	p.S111F	SERPINI1_uc003ffb.4_Missense_Mutation_p.S111F	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	111					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.S111F(2)|p.N110K(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						ATTGCCAATTCCTTGTTTGTG	0.328000														92			30		0	0	1	0	0
C11orf16	56673	broad.mit.edu	37	11	8947376	8947376	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:8947376C>T	uc001mhb.4	-	4	962	c.838G>A	c.(838-840)Ggc>Agc	p.G280S	C11orf16_uc001mhc.4_Missense_Mutation_p.G280S	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	Homo sapiens chromosome 11 open reading frame 16 (C11orf16), mRNA.	280										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CAGAGGCAGCCCTGGCACAGT	0.602000														149			151		0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62631108	62631108	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:62631108C>T	uc002yho.3	+	7	1187	c.1019C>T	c.(1018-1020)cCc>cTc	p.P340L	PRPF6_uc002yhp.3_Missense_Mutation_p.P340L	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	340					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GAGATGTGCCCCAAGGTGAGG	0.537000														44			24		0	0	1	0	0
OR10Q1	219960	broad.mit.edu	37	11	57995630	57995630	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:57995630G>A	uc010rkd.2	-	0	761	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	240					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)				AAGGCCCGGCGGCGGCCCTCG	0.632000														38			53		0	0	1	0	0
CFHR5	81494	broad.mit.edu	37	1	196977706	196977706	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:196977706G>A	uc001gts.4	+	9	1731	c.1603G>A	c.(1603-1605)Gat>Aat	p.D535N		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	535	Sushi 9.				complement activation, alternative pathway	extracellular region		p.D535N(2)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AAAAACAGGGGATGCTGTTGA	0.363000														122			21		0	0	1	0	0
KRT78	196374	broad.mit.edu	37	12	53242587	53242587	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:53242587G>A	uc001sbc.1	-	0	192	c.128C>T	c.(127-129)tCc>tTc	p.S43F		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	43	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						CCCCCCAAAGGAATTAAGGCT	0.672000														25			28		0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117691489	117691489	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:117691489C>T	uc001twn.2	-	17	3415	c.2704G>A	c.(2704-2706)Gac>Aac	p.D902N	NOS1_uc021ren.1_Missense_Mutation_p.D532N|NOS1_uc021reo.1_Missense_Mutation_p.D532N|NOS1_uc001twm.2_Missense_Mutation_p.D868N	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	868	Flavodoxin-like.				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.G901R(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)	TCTCTGAGGTCGGGCCCATCG	0.562000														70			120		0	0	1	0	0
PRSS54	221191	broad.mit.edu	37	16	58314339	58314339	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:58314339C>T	uc002enf.3	-	6	1372	c.977G>A	c.(976-978)gGa>gAa	p.G326E	PRSS54_uc002eng.3_Missense_Mutation_p.G326E|PRSS54_uc010vie.2_Missense_Mutation_p.G227E|CCDC113_uc002ene.3_3'UTR|CCDC113_uc010vid.2_3'UTR	NM_001080492	NP_001073961	Q6PEW0	PRS54_HUMAN	Homo sapiens protease, serine, 54 (PRSS54), mRNA.	326					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGAGCTGTTTCCTAGTCGTGA	0.448000														54			41		0	0	1	0	0
XIST	7503	broad.mit.edu	37	X	73071618	73071618	+	RNA	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:73071618G>A	uc004ebm.1	-	0		c.971C>T								Homo sapiens X (inactive)-specific transcript (non-protein coding) (XIST), non-coding RNA.																		TAGCACAAACGACTAGCCCTA	0.468000														6			57		0	0	1	0	0
PIGK	10026	broad.mit.edu	37	1	77620261	77620261	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:77620261G>A	uc001dhk.3	-	8	904	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C	PIGK_uc010orj.2_Missense_Mutation_p.R211C|PIGK_uc009wbx.3_Missense_Mutation_p.R193C|PIGK_uc001dhl.1_Missense_Mutation_p.R287C	NM_005482	NP_005473	Q92643	GPI8_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class K (PIGK), mRNA.	287					C-terminal protein lipidation|attachment of GPI anchor to protein|protein thiol-disulfide exchange|proteolysis	GPI-anchor transamidase complex	GPI-anchor transamidase activity|cysteine-type endopeptidase activity|protein binding			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						AGATCAGTGCGATGTCCAGGA	0.348000														22			30		0	0	1	0	0
MMP13	4322	broad.mit.edu	37	11	102825329	102825329	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:102825329C>T	uc001phl.3	-	2	398	c.369G>A	c.(367-369)gtG>gtA	p.V123V		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	123					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GGGTGTAATTCACAATTCTAT	0.333000														4			41		0	0	1	0	0
GABRB1	2560	broad.mit.edu	37	4	47033990	47033990	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:47033990G>A	uc003gxh.3	+	1	514	c.140G>A	c.(139-141)gGa>gAa	p.G47E	GABRB1_uc011bze.2_5'UTR|GABRB1_uc011bzd.1_Missense_Mutation_p.G47E|GABRB1_uc010igg.2_Non-coding_Transcript	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	47					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTGCTCAAAGGATATGACATT	0.443000														148			114		0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223177154	223177154	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:223177154G>A	uc001hnu.2	+	9	2741	c.2415G>A	c.(2413-2415)aaG>aaA	p.K805K		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	805					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)		TAAATCCCAAGAGTAAAGGGA	0.478000														31			45		0	0	1	0	0
TOR3A	64222	broad.mit.edu	37	1	179057065	179057065	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:179057065T>G	uc001gmd.3	+	3	811	c.659T>G	c.(658-660)aTc>aGc	p.I220S	TOR3A_uc010pnd.2_Missense_Mutation_p.I4S	NM_022371	NP_071766	Q9H497	TOR3A_HUMAN	Homo sapiens torsin family 3, member A (TOR3A), mRNA.	220					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						ATGAGCCAGATCCGGGAGACG	0.612000														48			76		0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237395476	237395476	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:237395476C>T	uc002vwb.2	-	4	771	c.737G>A	c.(736-738)gGt>gAt	p.G246D	IQCA1_uc002vvz.1_Missense_Mutation_p.G239D|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.G239D	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	239							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						ACTTACCATACCCAGGAAGAT	0.348000														9			3		0	0	1	0	0
TRIM5	85363	broad.mit.edu	37	11	5686459	5686459	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:5686459G>A	uc001mbm.2	-	7	1365	c.1062C>T	c.(1060-1062)atC>atT	p.I354I	TRIM6-TRIM34_uc009yer.3_Non-coding_Transcript|TRIM5_uc001mbl.2_Non-coding_Transcript|TRIM5_uc001mbn.3_Intron|TRIM5_uc001mbp.3_3'UTR	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	Homo sapiens tripartite motif containing 5 (TRIM5), transcript variant alpha, mRNA.	354	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TCCCTGATGTGATACTTTGAG	0.453000														175			138		0	0	1	0	0
DPY19L2P1	554236	broad.mit.edu	37	7	35130058	35130058	+	Splice_Site	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:35130058C>T	uc003teq.1	-	21	2235	c.1128_splice	c.e21-1	p.R376_splice	DPY19L2P1_uc003tep.1_Splice_Site|DPY19L2P1_uc010kwz.1_Splice_Site					Homo sapiens dpy-19-like 2 pseudogene 1 (C. elegans) (DPY19L2P1), non-coding RNA.																		TGTCCGAGCCCTTTAAATTTA	0.259000														61			23		0	0	1	0	0
RBM44	375316	broad.mit.edu	37	2	238726609	238726609	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:238726609C>T	uc002vxi.4	+	2	1182	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	349							RNA binding|nucleotide binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		TTGTTGAGAACAAAATATTAC	0.313000														12			14		0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46564027	46564027	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:46564027G>A	uc001ncv.2	-	7	1584	c.1270C>T	c.(1270-1272)Cag>Tag	p.Q424*	AMBRA1_uc010rgt.1_Nonsense_Mutation_p.Q80*|AMBRA1_uc009ylc.1_Nonsense_Mutation_p.Q514*|AMBRA1_uc001ncu.1_Nonsense_Mutation_p.Q424*|AMBRA1_uc010rgu.1_Nonsense_Mutation_p.Q514*|AMBRA1_uc001ncw.2_Nonsense_Mutation_p.Q424*|AMBRA1_uc001ncx.2_Nonsense_Mutation_p.Q514*	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	472					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TCCAGCTCCTGAAGCCGGTCA	0.552000														55			71		0	0	1	0	0
HRASLS5	117245	broad.mit.edu	37	11	63233637	63233637	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:63233637C>T	uc001nwy.2	-	4	866	c.692G>A	c.(691-693)gGg>gAg	p.G231E	HRASLS5_uc001nwz.2_Missense_Mutation_p.G221E|HRASLS5_uc010rmq.1_Missense_Mutation_p.G231E|HRASLS5_uc009yos.2_Non-coding_Transcript	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA.	231										endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CTCACAGTTCCCTTCAATCAG	0.512000														70			132		0	0	1	0	0
CHAT	1103	broad.mit.edu	37	10	50873054	50873054	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:50873054G>A	uc001jhz.2	+	14	2362	c.2209G>A	c.(2209-2211)Gaa>Aaa	p.E737K	CHAT_uc001jhv.1_Missense_Mutation_p.E619K|CHAT_uc001jhx.1_Missense_Mutation_p.E619K|CHAT_uc001jhy.1_Missense_Mutation_p.E619K|CHAT_uc001jia.2_Missense_Mutation_p.E655K|CHAT_uc010qgs.1_Intron	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	737					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GGCAACAAAGGAAAAAGCCAC	0.537000														65			45		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196762408	196762408	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:196762408C>T	uc002utj.4	-	28	4731	c.4630G>A	c.(4630-4632)Gat>Aat	p.D1544N		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1544					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGTGGTAAATCATGGGATAAA	0.289000														30			25		0	0	1	0	0
LMO7	4008	broad.mit.edu	37	13	76395638	76395638	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr13:76395638C>T	uc021rkq.1	+	13	2868	c.2533C>T	c.(2533-2535)Ccc>Tcc	p.P845S	LMO7_uc010thv.2_Missense_Mutation_p.P563S|LMO7_uc001vjt.1_Missense_Mutation_p.P511S|LMO7_uc001vjv.3_Missense_Mutation_p.P612S|LMO7_uc010thw.2_Missense_Mutation_p.P462S|LMO7_uc001vjw.1_Missense_Mutation_p.P518S	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	897						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGCTTCTCTCCCCAGAAGTTA	0.488000														4			200		0	0	1	0	0
DSG2	1829	broad.mit.edu	37	18	29125756	29125756	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr18:29125756G>A	uc002kwu.4	+	14	2595	c.2407G>A	c.(2407-2409)Gaa>Aaa	p.E803K	LOC100652770_uc002kwv.4_Non-coding_Transcript	NM_001943	NP_001934	Q14126	DSG2_HUMAN	Homo sapiens desmoglein 2 (DSG2), mRNA.	803					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TTCTCAGGAAGAAACTGAATC	0.378000														85			29		0	0	1	0	0
GTF3C2	2976	broad.mit.edu	37	2	27558560	27558560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:27558560G>A	uc002rju.1	-	9	1911	c.1514C>T	c.(1513-1515)cCc>cTc	p.P505L	GTF3C2_uc010eyy.1_5'Flank|GTF3C2_uc002rjv.1_Missense_Mutation_p.P494L|GTF3C2_uc002rjw.1_Missense_Mutation_p.P494L|GTF3C2_uc010eyz.2_Missense_Mutation_p.P494L|LOC100505624_uc002rjy.2_Non-coding_Transcript	NM_001521	NP_001512	Q8WUA4	TF3C2_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 2, beta 110kDa (GTF3C2), transcript variant 1, mRNA.	494						transcription factor TFIIIC complex				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACCCAACCGGGGCAGGAGAGG	0.552000														4			3		0	0	1	0	0
GDE1	51573	broad.mit.edu	37	16	19522235	19522235	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:19522235G>A	uc002dgh.3	-	2	633	c.469C>T	c.(469-471)Cta>Tta	p.L157L	GDE1_uc002dgi.3_Silent_p.L47L	NM_016641	NP_057725	Q9NZC3	GDE1_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase 1 (GDE1), mRNA.	157	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						GCTTCCCTTAGGGTAGGGATC	0.383000														88			55		0	0	1	0	0
METAP1D	254042	broad.mit.edu	37	2	172930373	172930373	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:172930373G>A	uc002uhk.3	+	3	463	c.390G>A	c.(388-390)cgG>cgA	p.R130R	METAP1D_uc010zdw.2_Silent_p.R12R	NM_199227	NP_954697	Q6UB28	AMP1D_HUMAN	Homo sapiens methionyl aminopeptidase type 1D (mitochondrial) (METAP1D), nuclear gene encoding mitochondrial protein, mRNA.	130					N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						TTGTTCATCGGGAAATCATCA	0.373000														69			37		0	0	1	0	0
BEND3	57673	broad.mit.edu	37	6	107391195	107391195	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:107391195G>A	uc003prs.2	-	4	1850	c.1200C>T	c.(1198-1200)ttC>ttT	p.F400F		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	400	BEN 2.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						CTTCGTCCAGGAACTCAGTGA	0.607000														81			82		0	0	1	0	0
GJB5	2709	broad.mit.edu	37	1	35223537	35223537	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:35223537C>T	uc001bxu.3	+	1	706	c.606C>T	c.(604-606)ctC>ctT	p.L202L	GJB5_uc021okz.1_Silent_p.L202L|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.	202					cell communication|epidermis development	connexon complex|integral to membrane		p.L202F(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TGCTCAACCTCGTGGAGCTCA	0.547000														65			47		0	0	1	0	0
P4HA3	283208	broad.mit.edu	37	11	74013522	74013522	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:74013522G>A	uc010rrj.2	-	2	502	c.459C>T	c.(457-459)ggC>ggT	p.G153G	P4HA3_uc001ouy.4_Non-coding_Transcript|P4HA3_uc001ouz.3_Silent_p.G153G			Q7Z4N8	P4HA3_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide III (P4HA3), mRNA.	153						endoplasmic reticulum lumen	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(5)|skin(1)	15	Breast(11;2.31e-05)					CTCGGGCCAGGCCTTTCACAT	0.562000														17			212		0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124311333	124311333	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:124311333C>T	uc001uft.4	+	23	3950	c.3925C>T	c.(3925-3927)Cct>Tct	p.P1309S		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1309	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGAAAGCTACCTCGGCCAGT	0.453000														119			51		0	0	1	0	0
KCNG2	26251	broad.mit.edu	37	18	77623970	77623970	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr18:77623970C>T	uc010xfl.2	+	0	303	c.303C>T	c.(301-303)ttC>ttT	p.F101F		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	101					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CGCTGGCCTTCCGCGACGAGC	0.751000														8			4		0	0	1	0	0
NELL2	4753	broad.mit.edu	37	12	44902725	44902725	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:44902725C>T	uc010skz.1	-	20	2718	c.2593G>A	c.(2593-2595)Gaa>Aaa	p.E865K	NELL2_uc001rof.3_Missense_Mutation_p.E814K|NELL2_uc001rog.2_Missense_Mutation_p.E815K|NELL2_uc001roh.2_Missense_Mutation_p.E815K|NELL2_uc009zkd.2_Missense_Mutation_p.E767K|NELL2_uc010sla.1_Missense_Mutation_p.E838K	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	815					cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CTTCACAGTTCCTGAAGGCAC	0.333000														28			45		0	0	1	0	0
DBX1	120237	broad.mit.edu	37	11	20178201	20178201	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:20178201G>A	uc021qez.1	-	3	708	c.705C>T	c.(703-705)tcC>tcT	p.S235S	DBX1_uc021qey.1_Intron	NM_001029865	NP_001025036	A6NMT0	DBX1_HUMAN	Homo sapiens developing brain homeobox 1 (DBX1), mRNA.	223					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						GGCGGGGAGTGGAGTCGGGTG	0.647000														129			107		0	0	1	0	0
VWF	7450	broad.mit.edu	37	12	6161810	6161810	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:6161810C>T	uc001qnn.1	-	15	2335	c.2085G>A	c.(2083-2085)atG>atA	p.M695I	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	695	TIL 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	Weibel-Palade body|endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein N-terminus binding|protein homodimerization activity			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CCCTCTCATCCATGTAGAGCC	0.597000														83			46		0	0	1	0	0
STK17A	9263	broad.mit.edu	37	7	43664264	43664264	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:43664264C>T	uc003tih.3	+	6	1219	c.1068C>T	c.(1066-1068)acC>acT	p.T356T	C7orf44_uc003tij.3_Intron|C7orf44_uc010kxu.2_Intron	NM_004760	NP_004751	Q9UEE5	ST17A_HUMAN	Homo sapiens serine/threonine kinase 17a (STK17A), mRNA.	356					apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ATTCGGATACCGACAAATCAG	0.398000														75			40		0	0	1	0	0
NSUN7	79730	broad.mit.edu	37	4	40796416	40796416	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:40796416C>T	uc003gvj.4	+	8	1700	c.1205C>T	c.(1204-1206)tCt>tTt	p.S402F	NSUN7_uc003gvi.4_Missense_Mutation_p.S402F	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AAAGATCACTCTCAAGGAGGC	0.328000														25			26		0	0	1	0	0
SIGLEC10	89790	broad.mit.edu	37	19	51919298	51919298	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:51919298C>T	uc002pwo.3	-	4	1100	c.878G>A	c.(877-879)aGa>aAa	p.R293K	SIGLEC10_uc002pwp.3_Missense_Mutation_p.R235K|SIGLEC10_uc021uyl.1_Missense_Mutation_p.R210K|SIGLEC10_uc002pwq.3_Missense_Mutation_p.R235K|SIGLEC10_uc010ycz.2_Missense_Mutation_p.R245K|SIGLEC10_uc002pws.2_Intron|SIGLEC10_uc002pwr.3_Missense_Mutation_p.R293K|SIGLEC10_uc010ycy.2_Intron|SIGLEC10_uc010eow.3_Missense_Mutation_p.R105K|LOC100129083_uc021uym.1_Non-coding_Transcript	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	293	Ig-like C2-type 2.				cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		GGAGAGGACTCTGTTCTGCAG	0.652000														21			18		0	0	1	0	0
TRPM6	140803	broad.mit.edu	37	9	77354349	77354349	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:77354349C>T	uc004ajl.1	-	34	5742	c.5504G>A	c.(5503-5505)aGa>aAa	p.R1835K	TRPM6_uc004ajk.1_Missense_Mutation_p.R1830K|TRPM6_uc022bib.1_Missense_Mutation_p.R1830K|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.R786K|TRPM6_uc010mpd.1_Missense_Mutation_p.R668K|TRPM6_uc010mpe.1_Missense_Mutation_p.R382K|TRPM6_uc004ajj.1_Missense_Mutation_p.R791K	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1835	Alpha-type protein kinase.				response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.R1835I(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTGAGCAGCTCTTTGTTGTTG	0.378000														41			32		0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	51254887	51254887	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:51254887C>T	uc021vhh.1	-	0	1446	c.525G>A	c.(523-525)agG>agA	p.R175R	NRXN1_uc021vhg.1_Silent_p.R175R|NRXN1_uc021vhi.1_Silent_p.R175R|NRXN1_uc021vhj.1_Silent_p.R175R|NRXN1_uc021vhk.1_Silent_p.R175R	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	175	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GCTCCCGCTCCCTCACCGAGG	0.687000														12			6		0	0	1	0	0
ERN1	2081	broad.mit.edu	37	17	62121500	62121500	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:62121500C>T	uc002jdz.2	-	21	2895	c.2782G>A	c.(2782-2784)Gac>Aac	p.D928N	DQ572107_uc002jdy.1_5'Flank	NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	928	KEN.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CACACGAAGTCGTCGGGGAGG	0.597000														6			71		0	0	1	0	0
PSMD3	5709	broad.mit.edu	37	17	38151308	38151308	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:38151308C>T	uc002htn.1	+	6	1247	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	PSMD3_uc010wen.1_Non-coding_Transcript|PSMD3_uc010weo.1_Silent_p.F262F	NM_002809	NP_002800	O43242	PSMD3_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 3 (PSMD3), mRNA.	361	PCI.				DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					TGCCCTATTTCCTTCTGACTC	0.587000														14			149		0	0	1	0	0
CMTM2	146225	broad.mit.edu	37	16	66621933	66621933	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:66621933G>A	uc002ept.3	+	3	818	c.658G>A	c.(658-660)Gaa>Aaa	p.E220K	CMTM2_uc010cdu.3_Missense_Mutation_p.E167K	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 2 (CMTM2), transcript variant 1, mRNA.	220					chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		TCCAGGAAAGGAAAAAGGACC	0.527000														49			35		0	0	1	0	0
NAE1	8883	broad.mit.edu	37	16	66842427	66842427	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:66842427G>A	uc002eqf.3	-	16	1404	c.1327C>T	c.(1327-1329)Cca>Tca	p.P443S	NAE1_uc002eqe.3_Missense_Mutation_p.P437S|NAE1_uc002eqg.3_Missense_Mutation_p.P354S|NAE1_uc010cdv.3_Missense_Mutation_p.P446S	NM_003905	NP_001018170	Q13564	ULA1_HUMAN	Homo sapiens NEDD8 activating enzyme E1 subunit 1 (NAE1), transcript variant 1, mRNA.	443					DNA replication|apoptosis|cell cycle|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TTCTTACCTGGATATCTACCC	0.308000														85			54		0	0	1	0	0
MCM7	4176	broad.mit.edu	37	7	99695821	99695821	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:99695821G>A	uc003usw.1	-	6	1323	c.813C>T	c.(811-813)gtC>gtT	p.V271V	MCM7_uc003usv.1_Silent_p.V95V|MCM7_uc003usx.1_Silent_p.V95V	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	271					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|cell cycle checkpoint|regulation of phosphorylation|response to DNA damage stimulus	MCM complex|chromatin	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CAGTGACGCTGACGTGGTCTC	0.522000														63			31		0	0	1	0	0
SELT	51714	broad.mit.edu	37	3	150321205	150321206	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:150321205_150321206CC>TT	uc021xfp.1	+	0	140_141	c.56_57CC>TT	c.(55-57)gcc>gTT	p.A19V	SERP1_uc003exz.3_5'Flank|BC039424_uc003eye.2_5'Flank	NM_016275		P62341	SELT_HUMAN	Homo sapiens selenoprotein T (SELT), mRNA.	19					cell redox homeostasis|selenocysteine incorporation		selenium binding							LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			CGGAGCGAGGCCTCGGCCAATC	0.609000														14			40		0	0	1	0	0
ZNF626	199777	broad.mit.edu	37	19	20808178	20808178	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:20808178C>A	uc002npb.1	-	3	655	c.505G>T	c.(505-507)Ggg>Tgg	p.G169W	ZNF626_uc002npc.1_Missense_Mutation_p.G93W	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						GGTTTTTTCCCAGTATGTCCT	0.338000														20			6		0.0293803	0.0293803	1	1	0
LCT	3938	broad.mit.edu	37	2	136570375	136570375	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:136570375G>A	uc002tuu.1	-	6	1870	c.1859C>T	c.(1858-1860)tCt>tTt	p.S620F		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	620	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GAAGCGCTCAGAGGCTCTCAG	0.592000														58			45		0	0	1	0	0
C1orf94	84970	broad.mit.edu	37	1	34678000	34678000	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:34678000G>A	uc001bxt.3	+	5	2552	c.1714G>A	c.(1714-1716)Gga>Aga	p.G572R	C1orf94_uc001bxs.4_Missense_Mutation_p.G382R	NM_001134734	NP_116273	Q6P1W5	CA094_HUMAN	Homo sapiens chromosome 1 open reading frame 94 (C1orf94), transcript variant 1, mRNA.	382							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				CTTTCCCCAAGGATATGGGTG	0.562000														43			31		0	0	1	0	0
SEC14L5	9717	broad.mit.edu	37	16	5064884	5064884	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:5064884C>T	uc002cye.2	+	15	2184	c.2004C>T	c.(2002-2004)tcC>tcT	p.S668S		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	668	Ser-rich.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GCCTGGAATCCTGCACCAGCG	0.637000														54			50		0	0	1	0	0
MED16	10025	broad.mit.edu	37	19	875301	875301	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:875301G>A	uc002lqd.1	-	9	1865	c.1714C>T	c.(1714-1716)Cct>Tct	p.P572S	MED16_uc010drw.2_Missense_Mutation_p.P397S|MED16_uc002lqe.3_Missense_Mutation_p.P561S|MED16_uc002lqf.3_Missense_Mutation_p.P561S|MED16_uc010xfz.2_5'Flank|MED16_uc010xfv.1_Non-coding_Transcript|MED16_uc010xfw.1_Missense_Mutation_p.P492S|MED16_uc010xfx.1_Missense_Mutation_p.P417S|MED16_uc010xfy.1_Missense_Mutation_p.P149S	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	Homo sapiens mediator complex subunit 16 (MED16), mRNA.	572					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCTTGTCAGGCGTGTTGAGA	0.627000														79			95		0	0	1	0	0
GIMAP1-GIMAP5	100527949	broad.mit.edu	37	7	150417940	150417940	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:150417940G>A	uc003whq.3	+	2	988	c.848G>A	c.(847-849)gGg>gAg	p.G283E	GIMAP1-GIMAP5_uc022apw.1_Intron	NM_130759	NP_570115			Homo sapiens GTPase, IMAP family member 1 (GIMAP1), mRNA.																		CTGCTGCTGGGGGGCGCGCTC	0.692000														27			11		0	0	1	0	0
P4HTM	54681	broad.mit.edu	37	3	49043552	49043552	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:49043552G>A	uc003cvh.3	+	7	1752	c.1403G>A	c.(1402-1404)gGa>gAa	p.G468E	P4HTM_uc003cvg.3_Missense_Mutation_p.G407E|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177938	NP_808807	Q9NXG6	P4HTM_HUMAN	Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA.	407						endoplasmic reticulum membrane|integral to membrane	L-ascorbic acid binding|calcium ion binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.A468E(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TGTGACAAGGGAAACCTGCGT	0.607000														101			122		0	0	1	0	0
GDA	9615	broad.mit.edu	37	9	74828890	74828890	+	Silent	SNP	G	A	A	rs150730275		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:74828890G>A	uc004air.3	+	4	770	c.561G>A	c.(559-561)tcG>tcA	p.S187S	GDA_uc011lse.2_Silent_p.S113S|GDA_uc004aiq.3_Silent_p.S187S|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Silent_p.S113S|GDA_uc004ais.3_Silent_p.S145S|GDA_uc004ait.1_Silent_p.S113S	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	187					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	p.E186K(1)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CTGAGGAATCGATCAAGGAAA	0.408000														27			40		0	0	1	0	0
MYOM1	8736	broad.mit.edu	37	18	3067469	3067469	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr18:3067469C>T	uc002klp.3	-	37	5183	c.4849G>A	c.(4849-4851)Gac>Aac	p.D1617N	MYOM1_uc002klq.3_Missense_Mutation_p.D1521N	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	1617	Ig-like C2-type 5.			D -> G (in Ref. 2; BAC86128).		striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTGCAGTGGTCGTCTGAGGCC	0.582000														77			37		0	0	1	0	0
PTPN11	5781	broad.mit.edu	37	12	112926270	112926270	+	Missense_Mutation	SNP	C	T	T	rs121918457		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:112926270C>T	uc001ttx.3	+	11	1783	c.1403C>T	c.(1402-1404)aCg>aTg	p.T468M		NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	472	Substrate binding (By similarity).|Tyrosine-protein phosphatase.		G -> A (in LEOPARD1).		T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.T468M(2)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CGGACAGGGACGTTCATTGTG	0.443000			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome					92			125		0	0	1	0	0
NPAS4	266743	broad.mit.edu	37	11	66192208	66192208	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:66192208C>T	uc001ohx.1	+	6	2023	c.1847C>T	c.(1846-1848)cCa>cTa	p.P616L	NPAS4_uc010rpc.1_Missense_Mutation_p.P406L	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	616					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GAGGCCTCTCCAGTCAAGCAG	0.587000														93			155		0	0	1	0	0
ADCY8	114	broad.mit.edu	37	8	131859707	131859707	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:131859707G>A	uc003ytd.4	-	10	2721	c.2465C>T	c.(2464-2466)tCc>tTc	p.S822F	ADCY8_uc010mds.3_Intron	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	822					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CACAGCTGAGGAATTGAAAGT	0.383000										HNSCC(32;0.087)				3			28		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79430112	79430112	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:79430112C>T	uc003hlb.2	+	62	10172	c.9732C>T	c.(9730-9732)ccC>ccT	p.P3244P	FRAS1_uc003hlc.1_Silent_p.P246P	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3239					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCCGGTCTCCCTTTGAAACCA	0.582000														48			37		0	0	1	0	0
MARK2	2011	broad.mit.edu	37	11	63672440	63672440	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:63672440C>T	uc001nxw.3	+	15	2438	c.1859C>T	c.(1858-1860)cCc>cTc	p.P620L	MARK2_uc001nxv.4_Missense_Mutation_p.P565L|MARK2_uc001nxx.3_Missense_Mutation_p.P566L|MARK2_uc001nxy.3_Missense_Mutation_p.P565L|MARK2_uc001nxz.4_Missense_Mutation_p.P586L|MARK2_uc009yoy.3_Missense_Mutation_p.P540L	NM_001039469	NP_001034558	Q7KZI7	MARK2_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 2 (MARK2), transcript variant 4, mRNA.	620					cell differentiation|establishment or maintenance of epithelial cell apical/basal polarity|intracellular protein kinase cascade|multicellular organismal development|response to oxidative stress	plasma membrane	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33						CCAGCCTCTCCCTCTGGCCAC	0.637000														201			99		0	0	1	0	0
SMC3	9126	broad.mit.edu	37	10	112333500	112333500	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:112333500T>C	uc001kze.3	+	2	253	c.127T>C	c.(127-129)Tat>Cat	p.Y43H		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	43					DNA mediated transformation|DNA repair|cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TAACTTTTTTTATGGTAGGTG	0.269000														23			21		0	0	1	0	0
WDR90	197335	broad.mit.edu	37	16	700084	700084	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:700084G>A	uc002cii.1	+	2	250	c.196G>A	c.(196-198)Ggg>Agg	p.G66R	WDR90_uc002cig.1_Missense_Mutation_p.G66R|WDR90_uc002cih.1_Missense_Mutation_p.G66R|WDR90_uc002cij.1_Non-coding_Transcript	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	66										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCAGTCTCTGGGGCTGACGGG	0.612000														314			234		0	0	1	0	0
ANKRD35	148741	broad.mit.edu	37	1	145562002	145562002	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:145562002C>A	uc001eob.1	+	9	1798	c.1690C>A	c.(1690-1692)Cag>Aag	p.Q564K	ANKRD35_uc010oyx.1_Missense_Mutation_p.Q407K	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	564										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGTTCCTTCCCAGGAGTCCAG	0.592000														137			38		2.24722e-20	2.28194e-20	1	1	0
USP6NL	9712	broad.mit.edu	37	10	11504532	11504532	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:11504532G>A	uc001iks.1	-	13	2489	c.2446C>T	c.(2446-2448)Cca>Tca	p.P816S	USP6NL_uc001ikt.3_Missense_Mutation_p.P799S	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA.	799						intracellular	Rab GTPase activator activity	p.S815N(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						TATCCAGATGGACTGGCATCT	0.537000														86			60		0	0	1	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	25496	25496	+	RNA	SNP	C	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrGL000241.1:25496C>A	uc011mgv.2	-	3		c.496G>T								Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		GTGGAGCTCCCAGGGTAAAAA	0.423000														290			38		6.32628e-17	6.38813e-17	1	1	0
SETBP1	26040	broad.mit.edu	37	18	42531194	42531194	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr18:42531194C>G	uc010dni.3	+	3	2185	c.1889C>G	c.(1888-1890)gCg>gGg	p.A630G		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	630						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CGCAATTTAGCGAAGTTGGCC	0.512000									Schinzel-Giedion syndrome					49			61		0	0	1	0	0
SLC25A51P1	442229	broad.mit.edu	37	6	66498475	66498475	+	RNA	SNP	C	T	T	rs114233858	by1000genomes	TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:66498475C>T	uc011dxw.2	+	0		c.704C>T								Homo sapiens mitochondrial carrier triple repeat 3 pseudogene (MCART3P), non-coding RNA.																		GGTCCTCTTTCGACAACAGCT	0.443000														54			39		0	0	1	0	0
PXDNL	137902	broad.mit.edu	37	8	52567257	52567257	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:52567257C>T	uc003xqu.4	-	1	329	c.228G>A	c.(226-228)ttG>ttA	p.L76L		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	76					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				ACAGTGTGTTCAAATTCTTGA	0.368000														1			26		0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869600	151869600	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:151869600C>T	uc022chf.1	+	0	290	c.290C>T	c.(289-291)aCc>aTc	p.T97I	MAGEA6_uc004ffq.1_Missense_Mutation_p.T97I|MAGEA6_uc004ffr.1_Missense_Mutation_p.T97I	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	97							protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGCCAAGCACCTTCCCTGAC	0.567000														6			92		0	0	1	0	0
BIRC8	112401	broad.mit.edu	37	19	53793621	53793621	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:53793621C>T	uc002qbk.3	-	0	1255	c.7G>A	c.(7-9)Ggt>Agt	p.G3S		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.	3					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		GCTTCATAACCCGTCATGGAT	0.423000														30			39		0	0	1	0	0
HOXA6	3203	broad.mit.edu	37	7	27187355	27187355	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:27187355A>G	uc003syo.2	-	0	39	c.14T>C	c.(13-15)tTt>tCt	p.F5S	HOXA-AS3_uc003syr.2_Intron|HOXA-AS3_uc003syp.2_Intron|HOXA6_uc003syq.1_Intron	NM_024014	NP_076919	P31267	HXA6_HUMAN	Homo sapiens homeobox A6 (HOXA6), mRNA.	5						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						GGGATTCACAAAATAGGAACT	0.527000											OREG0003757	type=REGULATORY REGION|Gene=HOXA6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay		66			22		0	0	1	0	0
AGAP6	414189	broad.mit.edu	37	10	51769063	51769063	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:51769063C>T	uc001jix.4	+	7	1576	c.1178C>T	c.(1177-1179)cCc>cTc	p.P393L		NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.	393					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						AACCCGCCCCCCTCTCCTCAT	0.522000														85			48		0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16359880	16359880	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:16359880C>T	uc002wpg.2	-	18	2926	c.2767G>A	c.(2767-2769)Gaa>Aaa	p.E923K	KIF16B_uc002wpe.1_Missense_Mutation_p.E305K|KIF16B_uc002wpf.1_Missense_Mutation_p.E305K|KIF16B_uc010gch.2_Missense_Mutation_p.E923K|KIF16B_uc010gci.2_Missense_Mutation_p.E923K|KIF16B_uc010gcj.2_Missense_Mutation_p.E934K	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	923	Glu-rich.				Golgi to endosome transport|cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTCTGCTTTTCTTCCAACAGA	0.413000														73			28		0	0	1	0	0
DNM3	26052	broad.mit.edu	37	1	172357745	172357745	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:172357745G>A	uc001gie.3	+	19	2494	c.2318G>A	c.(2317-2319)aGg>aAg	p.R773K	DNM3_uc001gif.3_Missense_Mutation_p.R769K|DNM3_uc001gih.1_Missense_Mutation_p.R129K	NM_015569	NP_056384	Q9UQ16	DYN3_HUMAN	Homo sapiens dynamin 3 (DNM3), transcript variant 1, mRNA.	779					endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ACCCAAAGGAGGCCAACACTA	0.547000														90			26		0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186313130	186313130	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:186313130G>A	uc001grv.3	-	25	3807	c.3510C>T	c.(3508-3510)gtC>gtT	p.V1170V	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	1170					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)		CAGAGGCAACGACCTTGTCAC	0.388000			T	NTRK1	papillary thyroid									73			24		0	0	1	0	0
TXNDC11	51061	broad.mit.edu	37	16	11778030	11778030	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:11778030G>A	uc010buu.1	-	11	2368	c.2306C>T	c.(2305-2307)cCc>cTc	p.P769L	TXNDC11_uc002dbg.1_Missense_Mutation_p.P742L	NM_015914	NP_056998	Q6PKC3	TXD11_HUMAN	Homo sapiens thioredoxin domain containing 11 (TXNDC11), mRNA.	769	Thioredoxin 2.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CCTGTTGCAGGGAAAAAACAA	0.408000														33			6		0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42276872	42276872	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:42276872C>T	uc003bbi.3	+	9	2083	c.1914C>T	c.(1912-1914)ctC>ctT	p.L638L	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	638					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCTGGCTGCTCAAGAAAGTCT	0.662000														52			31		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75072531	75072531	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:75072531C>T	uc001dgg.3	-	9	1462	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.E209K	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	415	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTGCTCTTTTCTTTCCTAGAT	0.403000														34			27		0	0	1	0	0
SLC35G6	643664	broad.mit.edu	37	17	7386012	7386012	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:7386012G>A	uc010cmj.1	+	1	824	c.709G>A	c.(709-711)Ggc>Agc	p.G237S	ZBTB4_uc002ghd.4_Intron|POLR2A_uc002ghe.3_5'Flank|POLR2A_uc002ghf.4_5'Flank	NM_001102614	NP_001096084	P0C7Q6	AMCL3_HUMAN	Homo sapiens solute carrier family 35, member G6 (SLC35G6), mRNA.	237						integral to membrane											CTCTGTGCCAGGCCTCTTTGT	0.612000														5			88		0	0	1	0	0
CYTIP	9595	broad.mit.edu	37	2	158272265	158272265	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:158272265C>T	uc002tzj.1	-	7	1076	c.1004G>A	c.(1003-1005)gGa>gAa	p.G335E	CYTIP_uc010zcl.1_Missense_Mutation_p.G229E	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	335					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						TCGGACACTTCCCTTTCTGCT	0.502000														47			44		0	0	1	0	0
MYO18A	399687	broad.mit.edu	37	17	27448185	27448185	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:27448185G>A	uc002hdt.1	-	5	1574	c.1416C>T	c.(1414-1416)ccC>ccT	p.P472P	MYO18A_uc010wbc.1_Silent_p.P14P|MYO18A_uc002hds.2_Silent_p.P14P|MYO18A_uc010csa.1_Silent_p.P472P|MYO18A_uc002hdu.1_Silent_p.P472P|MYO18A_uc010wbd.1_Silent_p.P141P	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	472	Myosin head-like.				DNA metabolic process|anti-apoptosis	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CATAGATGTGGGGTGCCATGT	0.567000														3			25		0	0	1	0	0
CCDC63	160762	broad.mit.edu	37	12	111321968	111321968	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:111321968G>A	uc001trv.1	+	7	1183	c.988G>A	c.(988-990)Gag>Aag	p.E330K	CCDC63_uc010sye.1_Missense_Mutation_p.E290K|CCDC63_uc001trw.1_Missense_Mutation_p.E245K	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	330								p.K329T(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TCTGGCCAAGGAGGAGAAGAA	0.532000														49			87		0	0	1	0	0
DPP7	29952	broad.mit.edu	37	9	140007854	140007854	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:140007854C>T	uc004clh.3	-	4	610	c.580G>A	c.(580-582)Ggc>Agc	p.G194S	DPP7_uc011meq.1_Missense_Mutation_p.R217K	NM_013379	NP_037511	Q9UHL4	DPP2_HUMAN	Homo sapiens dipeptidyl-peptidase 7 (DPP7), mRNA.	194						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity	p.A193V(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		TCGCCGAGGCCTGCCACAGCT	0.667000														39			39		0	0	1	0	0
XYLT1	64131	broad.mit.edu	37	16	17235161	17235161	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:17235161C>T	uc002dfa.3	-	6	1521	c.1436G>A	c.(1435-1437)gGa>gAa	p.G479E		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	479					glycosaminoglycan biosynthetic process	Golgi membrane|endoplasmic reticulum membrane|extracellular region|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCGCCGATCTCCCAGGCGCCA	0.597000														53			40		0	0	1	0	0
SIGLEC1	6614	broad.mit.edu	37	20	3679989	3679989	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:3679989C>T	uc002wja.3	-	6	1646	c.1646G>A	c.(1645-1647)gGa>gAa	p.G549E	SIGLEC1_uc002wiz.4_Missense_Mutation_p.G549E	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	549	Ig-like C2-type 5.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AAGCAGGGCTCCATTCAGGTA	0.682000														17			10		0	0	1	0	0
PODXL	5420	broad.mit.edu	37	7	131189120	131189120	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:131189120C>T	uc003vqw.4	-	8	1885	c.1627G>A	c.(1627-1629)Gac>Aac	p.D543N	PODXL_uc003vqx.4_Missense_Mutation_p.D511N	NM_001018111	NP_001018121	O00592	PODXL_HUMAN	Homo sapiens podocalyxin-like (PODXL), transcript variant 1, mRNA.	543					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)					GTCAGGTTGTCCAGAGGGACG	0.592000														57			74		0	0	1	0	0
WDR49	151790	broad.mit.edu	37	3	167246922	167246922	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:167246922G>A	uc003fev.1	-	9	1572	c.1268C>T	c.(1267-1269)tCg>tTg	p.S423L	WDR49_uc003feu.1_Missense_Mutation_p.S248L|WDR49_uc011bpd.1_Missense_Mutation_p.S487L|WDR49_uc003few.1_Intron	NM_178824	NP_849146	Q8IV35	WDR49_HUMAN	Homo sapiens WD repeat domain 49 (WDR49), mRNA.	423								p.S423W(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CATAATAATCGATCCAACTCC	0.363000														26			23		0	0	1	0	0
SSTR2	6752	broad.mit.edu	37	17	71166472	71166472	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:71166472G>A	uc002jje.3	+	1	1374	c.1014G>A	c.(1012-1014)ggG>ggA	p.G338G	SSTR2_uc021ucm.1_Silent_p.G338G	NM_001050	NP_001041	P30874	SSR2_HUMAN	Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.	338					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			CAGATGATGGGGAGCGGAGTG	0.527000														5			81		0	0	1	0	0
DNAH7	56171	broad.mit.edu	37	2	196765044	196765044	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:196765044C>T	uc002utj.4	-	27	4611	c.4510G>A	c.(4510-4512)Gcc>Acc	p.A1504T		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1504	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A1504A(1)|p.A1504V(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GACTTCACGGCTCTCATTCCA	0.423000														101			72		0	0	1	0	0
TCRA	0	broad.mit.edu	37	14	22616359	22616359	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:22616359G>A	uc010ajk.2	+	1	186	c.100G>A	c.(100-102)Gga>Aga	p.G34R	TCRA_uc001wbw.2_Intron|TCR-alpha_uc021rpg.1_Intron|AV2S1A1_uc010aiv.1_Intron|T-Cell_Receptor_V-alpha_region_uc021rpl.1_Intron|TCRA_uc010tmo.2_Intron|TCRA_uc001wco.3_Intron|TCRA_uc010aje.1_Intron|TCRA_uc001wcp.2_Intron|TCRA_uc001wcr.1_Intron|TCRA_uc001wcs.1_Intron|TCRA_uc010ajf.1_Intron|TCRA_uc001wcu.4_Intron|TCRA_uc021rpn.1_Intron|TCRA_uc001wcx.4_Intron|TCRA_uc021rpr.1_Intron|TCRA_uc001wdd.2_Intron|TCRA_uc010ajj.1_Intron|TCRA_uc001wde.1_Intron|TCRA_uc001wdg.1_5'UTR|TCRA_uc021rpt.1_5'UTR					SubName: Full=TRA@ protein;																		CATCCAAGAGGGAGAAAATCT	0.507000														56			18		0	0	1	0	0
ZNF503	84858	broad.mit.edu	37	10	77161015	77161015	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:77161015G>T	uc001jxg.3	-	0	499	c.163C>A	c.(163-165)Cct>Act	p.P55T	ZNF503-AS2_uc010qlf.2_5'Flank|ZNF503-AS2_uc010qlg.2_5'Flank	NM_032772	NP_116161	Q96F45	ZN503_HUMAN	Homo sapiens zinc finger protein 503 (ZNF503), mRNA.	55					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					TGCACAAAAGGCTTGGTGCTG	0.687000														10			3		0.00024832	0.000248664	1	1	0
ASPG	374569	broad.mit.edu	37	14	104561948	104561948	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:104561948C>T	uc001yop.2	+	3	469	c.384C>T	c.(382-384)ttC>ttT	p.F128F	ASPG_uc001yoo.2_Silent_p.F156F|ASPG_uc001yoq.2_Silent_p.F128F|ASPG_uc001yor.2_Silent_p.F128F	NM_001080464	NP_001073933	Q86U10	LPP60_HUMAN	Homo sapiens asparaginase homolog (S. cerevisiae) (ASPG), mRNA.	128	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						TGCTGTCCTTCATGCTGGAGA	0.627000														43			58		0	0	1	0	0
OVOL2	58495	broad.mit.edu	37	20	18022303	18022303	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:18022303C>T	uc002wqi.1	-	2	629	c.386G>A	c.(385-387)cGt>cAt	p.R129H		NM_021220	NP_067043	Q9BRP0	OVOL2_HUMAN	Homo sapiens ovo-like 2 (Drosophila) (OVOL2), mRNA.	129					negative regulation of Notch signaling pathway|negative regulation of keratinocyte differentiation|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GCGCTGCAGACGGAAGCCCTT	0.612000														57			63		0	0	1	0	0
HLA-J	3137	broad.mit.edu	37	6	29857360	29857360	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:29857360G>A	uc021ytx.1	+	0	256	c.238G>A	c.(238-240)Gag>Aag	p.E80K	HLA-G_uc021ytw.1_Non-coding_Transcript|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_Missense_Mutation_p.E80K|HLA-G_uc021ytv.1_3'UTR|HLA-G_uc010jro.3_3'UTR					Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.																		GGGTCTGCCCGAGCCCCTCAC	0.612000														2			3		0	0	1	0	0
RPL18A	6142	broad.mit.edu	37	19	17972140	17972140	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:17972140C>T	uc002nhp.2	+	1	92	c.57C>T	c.(55-57)acC>acT	p.T19T	SNORA68_uc002nhq.1_5'Flank	NM_000980	NP_000971	Q02543	RL18A_HUMAN	Homo sapiens ribosomal protein L18a (RPL18A), mRNA.	19					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	RNA binding|protein binding|structural constituent of ribosome			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						GCCTGCCCACCCCCAAATGCC	0.557000														23			28		0	0	1	0	0
MAGEB3	4114	broad.mit.edu	37	X	30254981	30254981	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:30254981G>A	uc022bug.1	+	0	940	c.940G>A	c.(940-942)Gag>Aag	p.E314K	MAGEB3_uc004dca.2_Missense_Mutation_p.E314K	NM_002365	NP_002356	O15480	MAGB3_HUMAN	Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA.	314										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						TTTGAGAGATGAGGAAGAAAG	0.507000														1			28		0	0	1	0	0
ACSM1	116285	broad.mit.edu	37	16	20634840	20634840	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:20634840C>T	uc002dhm.1	-	12	1770	c.1702G>A	c.(1702-1704)Gaa>Aaa	p.E568K	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.E568K	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	568					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	ATP binding|GTP binding|acyl-CoA ligase activity|butyrate-CoA ligase activity|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TTCCGAAGTTCCTTCCGTTCA	0.488000														53			40		0	0	1	0	0
MYO1H	283446	broad.mit.edu	37	12	109863822	109863822	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:109863822C>T	uc010sxn.1	+	16	1749	c.1749C>T	c.(1747-1749)atC>atT	p.I583I		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CCTCCTACATCCGTTGCATCA	0.512000														32			14		0	0	1	0	0
TBC1D9B	23061	broad.mit.edu	37	5	179320271	179320271	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:179320271G>A	uc003mlh.3	-	4	809	c.774C>T	c.(772-774)ttC>ttT	p.F258F	TBC1D9B_uc003mli.3_Silent_p.F258F|TBC1D9B_uc003mlj.3_Silent_p.F258F	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	258						integral to membrane|intracellular	Rab GTPase activator activity|calcium ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTCCTCCAGGAAGCCCTCGC	0.622000														35			41		0	0	1	0	0
PEF1	553115	broad.mit.edu	37	1	32096301	32096301	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:32096301G>A	uc001bth.2	-	4	1141	c.768C>T	c.(766-768)gcC>gcT	p.A256A	HCRTR1_uc010ogl.2_Intron|PEF1_uc021okp.1_Silent_p.A186A|PEF1_uc021okq.1_Silent_p.A121A|PEF1_uc001bte.1_3'UTR	NM_012392	NP_036524	Q9UBV8	PEF1_HUMAN	Homo sapiens penta-EF-hand domain containing 1 (PEF1), transcript variant 1, mRNA.	256	EF-hand 5.|Required for interaction with PDCD6.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		TCTCCCGGAAGGCCTCTGTCA	0.577000														45			34		0	0	1	0	0
F11	2160	broad.mit.edu	37	4	187195349	187195349	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:187195349A>T	uc003iza.1	+	4	738	c.405A>T	c.(403-405)gaA>gaT	p.E135D	F11_uc003iyz.3_Missense_Mutation_p.E135D	NM_000128	NP_000119	P03951	FA11_HUMAN	Homo sapiens coagulation factor XI (F11), mRNA.	135	Apple 2.				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GTGCTCAAGAATGCCAAGAAA	0.478000														72			64		0	0	1	0	0
PRICKLE1	144165	broad.mit.edu	37	12	42858229	42858229	+	Missense_Mutation	SNP	G	A	A	rs150766064		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:42858229G>A	uc010skv.2	-	6	1894	c.1607C>T	c.(1606-1608)tCg>tTg	p.S536L	PRICKLE1_uc001rnl.3_Missense_Mutation_p.S536L|PRICKLE1_uc010skw.2_Missense_Mutation_p.S536L|PRICKLE1_uc001rnm.3_Missense_Mutation_p.S536L	NM_001144881	NP_694571	Q96MT3	PRIC1_HUMAN	Homo sapiens prickle homolog 1 (Drosophila) (PRICKLE1), transcript variant 2, mRNA.	536					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	p.S536L(2)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AGAATCCATCGAATCCCGAAC	0.413000														151			245		0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	131008070	131008070	+	Silent	SNP	T	C	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:131008070T>C	uc003kvs.1	-	13	2209	c.2067A>G	c.(2065-2067)gtA>gtG	p.V689V	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Silent_p.V661V|RAPGEF6_uc010jdm.1_Silent_p.V644V	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	0					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity	p.K688N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CACATTTGTCTACTGGAACAG	0.413000														294			128		0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133225928	133225929	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:133225928_133225929GG>AA	uc001uks.1	-	30	4012_4013	c.3968_3969CC>TT	c.(3967-3969)gcc>gTT	p.A1323V	POLE_uc001ukr.1_Missense_Mutation_p.A127V|POLE_uc010tbq.1_Non-coding_Transcript|POLE_uc009zyu.1_Missense_Mutation_p.A1296V	NM_006231	NP_006222	Q07864	DPOE1_HUMAN	Homo sapiens polymerase (DNA directed), epsilon (POLE), mRNA.	1323					DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|base-excision repair, gap-filling|nucleotide-excision repair, DNA gap filling|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|chromatin binding|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GGATGCTGCGGGCAGTTCTTCG	0.649000								DNA polymerases (catalytic subunits)						67			37		0	0	1	0	0
CCDC102B	79839	broad.mit.edu	37	18	66721281	66721281	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr18:66721281G>A	uc002lkk.2	+	9	1672	c.1449G>A	c.(1447-1449)ctG>ctA	p.L483L	CCDC102B_uc002lki.2_Silent_p.L483L	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	483										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				ATGATTCCCTGAATCAGATCC	0.368000														15			33		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152777179	152777179	+	Splice_Site	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:152777179C>T	uc021zhb.1	-	21	2792	c.2569_splice	c.e21-1	p.E857_splice	SYNE1_uc003qot.4_Splice_Site_p.E864_splice|SYNE1_uc003qou.4_Splice_Site_p.E857_splice|SYNE1_uc010kjb.1_Splice_Site_p.E840_splice|SYNE1_uc003qow.3_Splice_Site_p.E152_splice|SYNE1_uc003qox.1_Splice_Site_p.E373_splice|SYNE1_uc003qoz.2_Splice_Site_p.E289_splice|SYNE1_uc003qoy.2_Splice_Site_p.E424_splice	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	857					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)		GCTAACAGTTCCTATAACGAA	0.343000										HNSCC(10;0.0054)				24			24		0	0	1	0	0
CCT6B	10693	broad.mit.edu	37	17	33255107	33255107	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:33255107A>G	uc002hig.3	-	13	1669	c.1553T>C	c.(1552-1554)gTt>gCt	p.V518A	CCT6B_uc010ctg.3_Missense_Mutation_p.V481A|CCT6B_uc010wcc.2_Missense_Mutation_p.V473A	NM_006584	NP_006575	Q92526	TCPW_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 6B (zeta 2) (CCT6B), transcript variant 1, mRNA.	518					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				AATTTCATCAACCAGGAGAAT	0.388000														12			108		0	0	1	0	0
DGKI	9162	broad.mit.edu	37	7	137257515	137257515	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:137257515G>A	uc003vtt.3	-	17	1832	c.1831C>T	c.(1831-1833)Ccc>Tcc	p.P611S	DGKI_uc003vtu.3_Missense_Mutation_p.P311S	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	611					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GCCTACCTGGGTATATTTAAA	0.363000														43			59		0	0	1	0	0
MSLNL	401827	broad.mit.edu	37	16	830786	830786	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:830786C>T	uc002cjz.1	-	2	215	c.215G>A	c.(214-216)cGt>cAt	p.R72H		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						GGGTAGGTGACGGTGTGCACG	0.592000														236			199		0	0	1	0	0
OR11H6	122748	broad.mit.edu	37	14	20692112	20692112	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:20692112G>A	uc010tlc.2	+	0	244	c.244G>A	c.(244-246)Gga>Aga	p.G82R		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L81M(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CATCCTTCTGGGAAACTTTGC	0.468000														37			20		0	0	1	0	0
EPHA7	2045	broad.mit.edu	37	6	93955113	93955113	+	Nonsense_Mutation	SNP	C	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:93955113C>A	uc003poe.3	-	15	3026	c.2785G>T	c.(2785-2787)Gga>Tga	p.G929*	EPHA7_uc003pof.3_Nonsense_Mutation_p.G924*|EPHA7_uc011eac.2_Nonsense_Mutation_p.G925*	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	929	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		AGCCATTCTCCAACTGAACAA	0.378000														46			35		2.19962e-31	2.24623e-31	1	1	0
OR8J3	81168	broad.mit.edu	37	11	55904317	55904317	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:55904317C>T	uc010riz.2	-	0	878	c.878G>A	c.(877-879)aGg>aAg	p.R293K		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293M(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ATCATTATTCCTCAGGCTGTA	0.358000														78			32		0	0	1	0	0
C11orf41	25758	broad.mit.edu	37	11	33667274	33667274	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:33667274C>T	uc021qfs.1	+	15	4685	c.4561C>T	c.(4561-4563)Cct>Tct	p.P1521S		NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	1521						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						TGACAGAGTTCCTGAGCCCCG	0.537000														184			118		0	0	1	0	0
BNIP1	662	broad.mit.edu	37	5	172590856	172590856	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:172590856C>T	uc003mci.4	+	6	852	c.748C>T	c.(748-750)Ctt>Ttt	p.L250F	BNIP1_uc003mcj.4_Missense_Mutation_p.L207F|BNIP1_uc003mck.4_Missense_Mutation_p.L216F|BNIP1_uc003mcl.4_Missense_Mutation_p.L173F|BNIP1_uc021yhw.1_Missense_Mutation_p.L120F	NM_013979	NP_053582	Q12981	SEC20_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 1 (BNIP1), transcript variant BNIP1-b, mRNA.	207					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)			TCTCATCTTCCTTGCGCTAGC	0.488000														108			40		0	0	1	0	0
DPPA3	359787	broad.mit.edu	37	14	36840940	36840940	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:36840940C>T	uc001wtp.3	+	0	571	c.322C>T	c.(322-324)Cgt>Tgt	p.R108C		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	108						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		GGGCGGAGTTCGTACGCATGA	0.458000														34			43		0	0	1	0	0
OR52M1	119772	broad.mit.edu	37	11	4566851	4566851	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:4566851G>C	uc010qyf.2	+	0	431	c.431G>C	c.(430-432)gGt>gCt	p.G144A		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACAGTGGTGGGTCGTTTGGGG	0.522000														78			76		0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100841572	100841572	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:100841572G>A	uc003pqj.4	-	9	1828	c.1361C>T	c.(1360-1362)tCg>tTg	p.S454L	SIM1_uc021zdg.1_Missense_Mutation_p.S454L|SIM1_uc010kcu.3_Missense_Mutation_p.S454L	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	454	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CACCAGCCTCGAGTGGTCAAG	0.632000														71			59		0	0	1	0	0
COL21A1	81578	broad.mit.edu	37	6	56047331	56047331	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:56047331G>A	uc003pcs.3	-	1	318	c.86C>T	c.(85-87)tCa>tTa	p.S29L	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.S29L|COL21A1_uc003pcu.1_Missense_Mutation_p.S29L	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	29					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTTCTTACTTGATCTTACTTC	0.348000														13			6		0	0	1	0	0
ATP13A5	344905	broad.mit.edu	37	3	193082039	193082039	+	Missense_Mutation	SNP	G	A	A	rs148527761	by1000genomes	TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:193082039G>A	uc011bsq.2	-	1	94	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W		NM_198505	NP_940907	Q4VNC0	AT135_HUMAN	Homo sapiens ATPase type 13A5 (ATP13A5), mRNA.	32					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		AAGGCTTTCCGTACATTGTGG	0.463000														243			103		0	0	1	0	0
DHRS4	10901	broad.mit.edu	37	14	24473593	24473593	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:24473593G>A	uc001wld.4	+	4	541	c.508G>A	c.(508-510)Gat>Aat	p.D170N	DHRS4_uc021rrd.1_Intron|DHRS4_uc021rrf.1_Intron|DHRS4_uc001wle.4_Silent_p.R152R|DHRS4_uc001wlc.4_Silent_p.R238R|DHRS4_uc021rrb.1_3'UTR|DHRS4_uc021rrc.1_3'UTR|DHRS4_uc021rre.1_3'UTR|DHRS4_uc010tnt.2_3'UTR|DHRS4_uc001wli.4_3'UTR|DHRS4_uc010alb.3_Intron			Q9BTZ2	DHRS4_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 4 like 2 (DHRS4L2), transcript variant 2, mRNA.	0						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	AAACCCTGCGGATAAGAAGGT	0.458000														24			11		0	0	1	0	0
ACPL2	92370	broad.mit.edu	37	3	141011959	141011959	+	Nonsense_Mutation	SNP	T	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:141011959T>A	uc003etu.3	+	7	1654	c.1355T>A	c.(1354-1356)tTg>tAg	p.L452*	ACPL2_uc003etv.3_Nonsense_Mutation_p.L452*|ACPL2_uc011bna.2_Nonsense_Mutation_p.L414*|ACPL2_uc011bnb.2_Nonsense_Mutation_p.L435*	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	Homo sapiens acid phosphatase-like 2 (ACPL2), transcript variant 1, mRNA.	452						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CTTGAAAACTTGGTCCGCTTT	0.483000														50			99		0	0	1	0	0
PROKR2	128674	broad.mit.edu	37	20	5283043	5283043	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:5283043C>T	uc010zqw.2	-	1	806	c.798G>A	c.(796-798)cgG>cgA	p.R266R	PROKR2_uc010zqx.2_Silent_p.R266R|PROKR2_uc010zqy.2_Silent_p.R266R	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	266						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GGCAGCGCAGCCGCTTGCGAA	0.607000										HNSCC(71;0.22)				38			53		0	0	1	0	0
RARB	5915	broad.mit.edu	37	3	25611354	25611354	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:25611354G>A	uc011awl.2	+	3	641	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	RARB_uc003cdi.2_Missense_Mutation_p.R73Q|RARB_uc003cdh.3_Missense_Mutation_p.R185Q	NM_016152	NP_057236	P10826	RARB_HUMAN	Homo sapiens retinoic acid receptor, beta (RARB), transcript variant 2, mRNA.	192	Hinge.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GAGAAGATCCGAAAAGCTCAC	0.483000														47			80		0	0	1	0	0
ELP4	26610	broad.mit.edu	37	11	31669375	31669375	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:31669375C>T	uc001mtc.3	+	7	1049	c.1014C>T	c.(1012-1014)aaC>aaT	p.N338N	ELP4_uc001mtb.3_Silent_p.N338N|ELP4_uc010rdz.2_Silent_p.N339N			Q96EB1	ELP4_HUMAN	Homo sapiens elongation protein 4 homolog (S. cerevisiae) (ELP4), mRNA.	338					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|cytoplasm|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GAGAAACTAACCCATTGTATA	0.403000														30			20		0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207557952	207557952	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:207557952C>T	uc002vbr.1	-	8	1044	c.927G>A	c.(925-927)caG>caA	p.Q309Q		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	309						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CCAGCAGCTGCTGCCTTCTCG	0.552000														19			13		0	0	1	0	0
PSD3	23362	broad.mit.edu	37	8	18729139	18729139	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:18729139T>C	uc003wza.3	-	2	1338	c.1235A>G	c.(1234-1236)gAa>gGa	p.E412G		NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	412					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AGCTCACCTTTCCCTGTCTCT	0.443000														62			96		0	0	1	0	0
PRKAG3	53632	broad.mit.edu	37	2	219694842	219694842	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:219694842C>T	uc002vjb.1	-	3	511	c.492G>A	c.(490-492)caG>caA	p.Q164Q	PRKAG3_uc010zkn.1_Non-coding_Transcript|PRKAG3_uc010fvy.1_Silent_p.Q164Q|PRKAG3_uc010zko.1_Silent_p.Q160Q	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.	164					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAATGGGGCCTGCGGGGACA	0.627000														60			45		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140215547	140215547	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:140215547G>A	uc003lhq.2	+	0	1579	c.1579G>A	c.(1579-1581)Gag>Aag	p.E527K	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.E527K	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	541	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACCACGAGGAGCTGGAGCT	0.682000														191			139		0	0	1	0	0
CXorf58	254158	broad.mit.edu	37	X	23945391	23945391	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:23945391G>A	uc004daz.1	+	5	803	c.459G>A	c.(457-459)agG>agA	p.R153R	CXorf58_uc011mju.1_Silent_p.R153R	NM_152761	NP_689974	Q96LI9	CX058_HUMAN	Homo sapiens chromosome X open reading frame 58 (CXorf58), transcript variant 1, mRNA.	153										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						TGGGGGAAAGGAAATTTCACC	0.348000														5			53		0	0	1	0	0
CATSPERG	57828	broad.mit.edu	37	19	38858706	38858706	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:38858706G>A	uc002oih.4	+	25	3036	c.2949G>A	c.(2947-2949)tgG>tgA	p.W983*	CATSPERG_uc002oig.4_Nonsense_Mutation_p.W943*|CATSPERG_uc002oif.4_Nonsense_Mutation_p.W623*|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	983					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GCCTTATCTGGACCACGAGGA	0.612000														278			102		0	0	1	0	0
NMNAT3	349565	broad.mit.edu	37	3	139346556	139346556	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:139346556C>T	uc003etj.3	-	0	51	c.11G>A	c.(10-12)cGa>cAa	p.R4Q	NMNAT3_uc010hul.3_Missense_Mutation_p.R4Q|NMNAT3_uc003etk.3_Intron|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	4					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						CACAGGTATTCGGCTCTTCAT	0.522000														19			16		0	0	1	0	0
SELP	6403	broad.mit.edu	37	1	169582216	169582216	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:169582216C>T	uc001ggi.4	-	4	791	c.726G>A	c.(724-726)ctG>ctA	p.L242L	SELP_uc001ggh.3_Silent_p.L77L|SELP_uc009wvr.3_Silent_p.L242L	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	242	Sushi 1.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CCAAGCATTCCAGCTTGCTGG	0.478000														141			39		0	0	1	0	0
ENTPD6	955	broad.mit.edu	37	20	25201921	25201921	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:25201921G>A	uc002wuj.2	+	10	1177	c.997G>A	c.(997-999)Gag>Aag	p.E333K	ENTPD6_uc010zsy.1_Missense_Mutation_p.E333K|ENTPD6_uc010gdj.1_Missense_Mutation_p.E305K|ENTPD6_uc002wum.2_Missense_Mutation_p.E316K|ENTPD6_uc010zta.1_Missense_Mutation_p.E333K|ENTPD6_uc002wuk.2_Missense_Mutation_p.E332K|ENTPD6_uc002wul.2_Missense_Mutation_p.E332K|ENTPD6_uc010ztb.1_Missense_Mutation_p.E305K|ENTPD6_uc010ztc.1_Missense_Mutation_p.E305K|ENTPD6_uc002wuo.2_Missense_Mutation_p.E85K|ENTPD6_uc010zsz.1_Missense_Mutation_p.E115K|ENTPD6_uc010ztd.1_Intron|ENTPD6_uc010gdl.1_5'Flank|ENTPD6_uc010gdk.1_5'Flank	NM_001247	NP_001238	O75354	ENTP6_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA.	333						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity	p.G332V(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						TTTCAAAGGAGAGTGGGAACA	0.517000														55			52		0	0	1	0	0
SNTN	132203	broad.mit.edu	37	3	63645456	63645456	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:63645456C>T	uc003dlr.3	+	2	221	c.201C>T	c.(199-201)ttC>ttT	p.F67F		NM_001080537	NP_001074006	A6NMZ2	SNTAN_HUMAN	Homo sapiens sentan, cilia apical structure protein (SNTN), mRNA.	67						cilium	calcium ion binding	p.I66V(1)		endometrium(2)|ovary(1)	3						CTCTGATTTTCAGAAATTCTT	0.388000														140			45		0	0	1	0	0
CYP3A7	1551	broad.mit.edu	37	7	99306665	99306666	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:99306665_99306666GG>AA	uc003uru.3	-	10	1348_1349	c.1245_1246CC>TT	c.(1243-1248)ctccct>ctTTct	p.P416S	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	416					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TACCTTTCAGGGAGGAACTTCT	0.505000														58			8		0	0	1	0	0
MC2R	4158	broad.mit.edu	37	18	13884873	13884873	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr18:13884873C>T	uc002ksp.1	-	1	822	c.645G>A	c.(643-645)atG>atA	p.M215I	MC2R_uc021uhs.1_Missense_Mutation_p.M215I	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	215					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGGCCCCTTTCATGTTGGCTC	0.557000														25			51		0	0	1	0	0
RALGDS	5900	broad.mit.edu	37	9	135984192	135984192	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:135984192G>A	uc004cco.3	-	4	666	c.646C>T	c.(646-648)Ccg>Tcg	p.P216S	RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Missense_Mutation_p.P204S|RALGDS_uc004ccr.3_Missense_Mutation_p.P215S|RALGDS_uc011mcv.2_Missense_Mutation_p.P187S|RALGDS_uc004ccs.3_Missense_Mutation_p.P161S|RALGDS_uc011mcw.2_Missense_Mutation_p.P287S|RALGDS_uc004ccv.1_5'UTR|RALGDS_uc004ccu.1_5'UTR	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	216	N-terminal Ras-GEF.				Ras protein signal transduction|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GGAAAGTCCGGAGGTTGACAG	0.637000			T	CIITA	"""PMBL, Hodgkin Lymphona, """									49			33		0	0	1	0	0
SYT17	51760	broad.mit.edu	37	16	19195389	19195389	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:19195389G>C	uc002dfw.3	+	4	1202	c.871G>C	c.(871-873)Ggg>Cgg	p.G291R	SYT17_uc002dfx.3_Missense_Mutation_p.G230R|SYT17_uc002dfy.3_Missense_Mutation_p.G287R	NM_016524	NP_057608	Q9BSW7	SYT17_HUMAN	Homo sapiens synaptotagmin XVII (SYT17), mRNA.	291	C2 1.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CTGTGTCATTGGGAAAGTTTC	0.562000														154			130		0	0	1	0	0
TRIM69	140691	broad.mit.edu	37	15	45047410	45047410	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:45047410C>T	uc001zuf.2	+	2	1214	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S	TRIM69_uc001zug.1_Missense_Mutation_p.P107S|TRIM69_uc001zuh.1_Intron|TRIM69_uc001zui.1_Intron|TRIM69_uc010bdy.1_Intron	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	Homo sapiens tripartite motif containing 69 (TRIM69), transcript variant a, mRNA.	107	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TAAGAAGTTACCCTTACTCAA	0.433000														39			34		0	0	1	0	0
ZSCAN20	7579	broad.mit.edu	37	1	33960900	33960900	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:33960900C>T	uc001bxj.4	+	7	3123	c.2956C>T	c.(2956-2958)Ccg>Tcg	p.P986S	ZSCAN20_uc009vui.3_Missense_Mutation_p.P985S	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	986					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P986P(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGAGAGAAGCCGTATAAGTG	0.473000														46			30		0	0	1	0	0
SLC45A4	57210	broad.mit.edu	37	8	142227206	142227206	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:142227206G>A	uc003ywd.1	-	4	1867	c.1559C>T	c.(1558-1560)aCt>aTt	p.T520I	SLC45A4_uc003ywc.1_Missense_Mutation_p.T520I|SLC45A4_uc010meq.1_Missense_Mutation_p.T518I	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	571					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			AATAGCACCAGTGGCGGCATA	0.562000														10			84		0	0	1	0	0
PCDHB6	56130	broad.mit.edu	37	5	140529841	140529841	+	Missense_Mutation	SNP	G	A	A	rs147980996	by1000genomes	TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:140529841G>A	uc003lir.3	+	0	3	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	1					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAATAGACATGATGCAAACTA	0.398000														44			30		0	0	1	0	0
CHD4	1108	broad.mit.edu	37	12	6701683	6701684	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:6701683_6701684GG>AA	uc001qpo.3	-	18	2987_2988	c.2823_2824CC>TT	c.(2821-2826)gaccag>gaTTag	p.Q942*	CHD4_uc001qpn.3_Nonsense_Mutation_p.Q935*|CHD4_uc001qpp.3_Nonsense_Mutation_p.Q939*	NM_001273	NP_001264	Q14839	CHD4_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 4 (CHD4), mRNA.	942					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						TTTTTTATCTGGTCCTCCTTGG	0.446000														116			35		0	0	1	0	0
MYH6	4624	broad.mit.edu	37	14	23868031	23868031	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:23868031C>T	uc001wjv.3	-	14	1868	c.1797G>A	c.(1795-1797)aaG>aaA	p.K599K		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	599	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	ATP binding|actin binding|actin-dependent ATPase activity|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TGAGAGGATCCTTGTTTTTTT	0.552000														127			48		0	0	1	0	0
SLC27A3	11000	broad.mit.edu	37	1	153749199	153749199	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:153749199C>T	uc001fcz.3	+	1	1079	c.1014C>T	c.(1012-1014)acC>acT	p.T338T	SLC27A3_uc009won.3_Non-coding_Transcript	NM_024330	NP_077306	Q5K4L6	S27A3_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 3 (SLC27A3), mRNA.	338					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTCTGGCACCACGGGTGAGG	0.597000														41			77		0	0	1	0	0
AFF3	3899	broad.mit.edu	37	2	100623791	100623791	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:100623791C>A	uc002taf.3	-	4	525	c.381G>T	c.(379-381)caG>caT	p.Q127H	AFF3_uc002tag.3_Missense_Mutation_p.Q102H|AFF3_uc010fiq.1_Missense_Mutation_p.Q102H|AFF3_uc010yvr.1_Missense_Mutation_p.Q256H|AFF3_uc002tah.1_Missense_Mutation_p.Q127H|AFF3_uc010fir.1_Missense_Mutation_p.Q179H	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	102					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCACAGGAGTCTGAGGAACCC	0.443000														33			35		4.32679e-17	4.3752e-17	1	1	0
SESN2	83667	broad.mit.edu	37	1	28599287	28599288	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:28599287_28599288CC>TT	uc001bps.3	+	4	1129_1130	c.733_734CC>TT	c.(733-735)ccg>TTg	p.P245L		NM_031459	NP_113647	P58004	SESN2_HUMAN	Homo sapiens sestrin 2 (SESN2), mRNA.	245					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		AAGCAGGGACCCGTTGAACAAC	0.614000														20			19		0	0	1	0	0
ZNF527	84503	broad.mit.edu	37	19	37880055	37880055	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:37880055C>T	uc010efk.1	+	4	1215	c.1104C>T	c.(1102-1104)agC>agT	p.S368S	ZNF527_uc002ogf.3_Silent_p.S336S|ZNF527_uc010xtq.1_Non-coding_Transcript	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	Homo sapiens zinc finger protein 527 (ZNF527), mRNA.	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGCCTTTAGCCGTTATGCCT	0.438000														70			27		0	0	1	0	0
TRIM45	80263	broad.mit.edu	37	1	117660703	117660703	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:117660703A>T	uc001egz.2	-	1	1763	c.1175T>A	c.(1174-1176)aTt>aAt	p.I392N	TRIM45_uc009whe.2_Intron	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	Homo sapiens tripartite motif containing 45 (TRIM45), transcript variant 1, mRNA.	392						cytoplasm|nucleus	zinc ion binding	p.T391K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		TTTGGTATTAATCGTACCATA	0.468000														68			60		0	0	1	0	0
OR5K1	26339	broad.mit.edu	37	3	98189338	98189338	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:98189338G>A	uc003dsm.3	+	0	918	c.918G>A	c.(916-918)atG>atA	p.M306I		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAATTCTGATGAAGAAATAAT	0.313000														9			4		0	0	1	0	0
SYNE1	23345	broad.mit.edu	37	6	152771804	152771804	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:152771804C>T	uc021zhb.1	-	24	3574	c.3351G>A	c.(3349-3351)agG>agA	p.R1117R	SYNE1_uc003qot.4_Silent_p.R1124R|SYNE1_uc003qou.4_Silent_p.R1117R|SYNE1_uc010kjb.1_Silent_p.R1100R|SYNE1_uc003qow.3_Silent_p.R412R|SYNE1_uc003qox.1_Silent_p.R633R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1117					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)		CCATGAGCTTCCTGTAGGTGC	0.517000										HNSCC(10;0.0054)				173			122		0	0	1	0	0
HBG1	3047	broad.mit.edu	37	11	5269676	5269676	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:5269676G>A	uc001mai.1	-	2	794	c.357C>T	c.(355-357)ttC>ttT	p.F119F	HBG1_uc001mah.1_Silent_p.F119F	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	119					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		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)		ATTCTTTGCCGAAATGGATTG	0.527000														74			44		0	0	1	0	0
HCRTR2	3062	broad.mit.edu	37	6	55142315	55142315	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:55142315G>A	uc003pcl.3	+	4	1215	c.900G>A	c.(898-900)agG>agA	p.R300R	HCRTR2_uc010jzv.3_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	300					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GAGCCAGAAGGAAAACAGCCC	0.488000														50			23		0	0	1	0	0
ADCY1	107	broad.mit.edu	37	7	45614655	45614655	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:45614655C>T	uc003tne.4	+	0	531	c.513C>T	c.(511-513)ttC>ttT	p.F171F	ADCY1_uc003tnd.3_5'UTR	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	171					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)	TGGTCACCTTCGTGTCCTATG	0.697000														35			14		0	0	1	0	0
MUC6	4588	broad.mit.edu	37	11	1030958	1030958	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:1030958G>A	uc001lsw.2	-	5	724	c.673C>T	c.(673-675)Cag>Tag	p.Q225*		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	225	VWFD 1.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTGGGCCTGCCGGACGTGG	0.657000														17			7		0	0	1	0	0
PKD1L1	168507	broad.mit.edu	37	7	47930265	47930265	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:47930265G>A	uc003tny.2	-	15	2584	c.2550C>T	c.(2548-2550)tcC>tcT	p.S850S		NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	850	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GTGCCTCAAAGGAAACAGTGG	0.582000														79			24		0	0	1	0	0
EDN1	1906	broad.mit.edu	37	6	12294300	12294300	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:12294300G>A	uc003nae.4	+	2	694	c.360G>A	c.(358-360)tgG>tgA	p.W120*	EDN1_uc003nad.3_Nonsense_Mutation_p.W120*|EDN1_uc003naf.4_Nonsense_Mutation_p.W119*	NM_001955	NP_001946	P05305	EDN1_HUMAN	Homo sapiens endothelin 1 (EDN1), transcript variant 1, mRNA.	120	Endothelin-like.				artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of JUN kinase activity|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				AGAAGTGCTGGAATTTTTGCC	0.453000														9			109		0	0	1	0	0
TRIM21	6737	broad.mit.edu	37	11	4407076	4407076	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:4407076G>A	uc001lyy.1	-	6	980	c.867C>T	c.(865-867)atC>atT	p.I289I		NM_003141	NP_003132	P19474	RO52_HUMAN	Homo sapiens tripartite motif containing 21 (TRIM21), mRNA.	289	B30.2/SPRY.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|RNA binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		GATCCAGAGTGATGTGGACTG	0.527000														27			23		0	0	1	0	0
C1orf65	164127	broad.mit.edu	37	1	223567862	223567862	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:223567862C>G	uc001hoa.2	+	0	1148	c.1045C>G	c.(1045-1047)Caa>Gaa	p.Q349E		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	349										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GTGGAAGGAGCAACCAGAGGA	0.697000														21			3		0	0	1	0	0
SLC38A1	81539	broad.mit.edu	37	12	46591542	46591542	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:46591542G>A	uc009zkj.1	-	15	2008	c.1323C>T	c.(1321-1323)atC>atT	p.I441I	SLC38A1_uc001rpb.3_Silent_p.I441I|SLC38A1_uc001rpc.3_Silent_p.I441I|SLC38A1_uc001rpd.3_Silent_p.I441I|SLC38A1_uc001rpe.3_Silent_p.I441I|SLC38A1_uc001rpa.3_Silent_p.I441I	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	441					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CCTGGTCTGTGATTTTTAAAT	0.318000														79			21		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107692560	107692560	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:107692560G>A	uc010ljo.1	-	25	3982	c.3898C>T	c.(3898-3900)Ctt>Ttt	p.L1300F	LAMB4_uc003vey.2_Missense_Mutation_p.L1300F|LAMB4_uc010ljp.1_Missense_Mutation_p.L269F	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1300	Domain II.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CTTGCATTAAGGACACTGGAT	0.388000														225			80		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38752339	38752339	+	Missense_Mutation	SNP	C	A	A	rs149155352		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:38752339C>A	uc003ciq.3	-	22	4139	c.4139G>T	c.(4138-4140)cGg>cTg	p.R1380L		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1380					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACTCACCTCCCGGGAATCAAC	0.512000														36			24		2.12542e-12	2.13427e-12	1	1	0
ACSL6	23305	broad.mit.edu	37	5	131305829	131305829	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:131305829C>T	uc003kvx.2	-	14	1608	c.1499G>A	c.(1498-1500)tGg>tAg	p.W500*	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Nonsense_Mutation_p.W465*|ACSL6_uc003kvy.2_Nonsense_Mutation_p.W500*|ACSL6_uc003kvz.2_Nonsense_Mutation_p.W400*|ACSL6_uc021ydh.1_Nonsense_Mutation_p.W400*|ACSL6_uc010jdo.2_Nonsense_Mutation_p.W475*|ACSL6_uc003kwa.2_Nonsense_Mutation_p.W486*|ACSL6_uc003kvw.2_Nonsense_Mutation_p.W121*|ACSL6_uc010jdn.2_Nonsense_Mutation_p.W490*	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	475					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.D499Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCTGAGGTCCAGTCGCCAGG	0.493000														131			181		0	0	1	0	0
PRSS48	345062	broad.mit.edu	37	4	152212270	152212270	+	Splice_Site	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:152212270G>A	uc011cif.2	+	5	652	c.652_splice	c.e5-1	p.G218_splice	PRSS48_uc011cig.2_Splice_Site_p.G75_splice	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	Homo sapiens protease, serine, 48 (PRSS48), mRNA.	218	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						TCTTCCTTAGGGTGATTCTGG	0.438000														24			17		0	0	1	0	0
ACVR2B	93	broad.mit.edu	37	3	38524693	38524693	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:38524693C>T	uc003cif.3	+	10	1433	c.1409C>T	c.(1408-1410)tCc>tTc	p.S470F	ACVR2B_uc003cig.3_Missense_Mutation_p.S261F	NM_001106	NP_001097	Q13705	AVR2B_HUMAN	Homo sapiens activin A receptor, type IIB (ACVR2B), mRNA.	470	Protein kinase.				BMP signaling pathway|activin receptor signaling pathway|anterior/posterior pattern formation|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	ATP binding|activin receptor activity|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		GCTCGCTTGTCCGCGGGCTGT	0.597000														124			229		0	0	1	0	0
HPS4	89781	broad.mit.edu	37	22	26860230	26860230	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:26860230G>A	uc003acl.3	-	10	2025	c.1366C>T	c.(1366-1368)Ccc>Tcc	p.P456S	HPS4_uc003aci.3_Missense_Mutation_p.P451S|HPS4_uc003acj.3_Missense_Mutation_p.P320S|HPS4_uc003ack.3_Missense_Mutation_p.P247S|HPS4_uc003acn.3_Missense_Mutation_p.P302S|HPS4_uc010gvd.1_Missense_Mutation_p.P474S|HPS4_uc003ach.3_Missense_Mutation_p.P191S	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA.	456					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						TCTGCTCTGGGAATGGGGGCT	0.607000									Hermansky-Pudlak syndrome					129			161		0	0	1	0	0
INSRR	3645	broad.mit.edu	37	1	156823982	156823982	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:156823982C>T	uc010pht.2	-	1	498	c.199G>A	c.(199-201)Gac>Aac	p.D67N	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Missense_Mutation_p.D67N	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	67					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCGCGGAAGTCCTCCCCGGTG	0.627000														55			95		0	0	1	0	0
CD300C	10871	broad.mit.edu	37	17	72541018	72541018	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:72541018G>A	uc002jky.1	-	1	491	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C		NM_006678	NP_006669	Q08708	CLM6_HUMAN	Homo sapiens CD300c molecule (CD300C), mRNA.	44	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity	p.R44C(2)		endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						TTCTCATAGCGACACTGCACA	0.532000														5			104		0	0	1	0	0
C8B	732	broad.mit.edu	37	1	57425773	57425773	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:57425773C>T	uc001cyp.3	-	1	236	c.169G>A	c.(169-171)Gat>Aat	p.D57N	C8B_uc010oon.2_5'UTR|C8B_uc010ooo.2_Missense_Mutation_p.D5N	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	57					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AGGGTAACATCCACACTCCGC	0.483000														44			31		0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46482954	46482954	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:46482954C>T	uc003cpq.3	-	13	1917	c.1676G>A	c.(1675-1677)gGa>gAa	p.G559E	LTF_uc003fzr.3_Missense_Mutation_p.G515E|LTF_uc010hjh.3_Missense_Mutation_p.G557E|LTF_uc003cpr.3_Missense_Mutation_p.G546E	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	559	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	TGCAACGTCTCCAGCATTCTC	0.393000														105			58		0	0	1	0	0
NDFIP1	80762	broad.mit.edu	37	5	141511870	141511870	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:141511870C>T	uc003lmi.4	+	2	461	c.245C>T	c.(244-246)aCc>aTc	p.T82I	NDFIP1_uc003lmj.1_Intron	NM_030571	NP_085048	Q9BT67	NFIP1_HUMAN	Homo sapiens Nedd4 family interacting protein 1 (NDFIP1), mRNA.	82					cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	Golgi membrane|endosome membrane|extracellular region|integral to membrane|perinuclear region of cytoplasm	signal transducer activity			large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGAGAGGACCAAGGCTGAA	0.438000														77			78		0	0	1	0	0
MAGEA6	4105	broad.mit.edu	37	X	151869780	151869780	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:151869780C>T	uc022chf.1	+	0	470	c.470C>T	c.(469-471)tCc>tTc	p.S157F	MAGEA6_uc004ffq.1_Missense_Mutation_p.S157F|MAGEA6_uc004ffr.1_Missense_Mutation_p.S157F	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	157	MAGE.						protein binding	p.D156Y(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTCCGATTCCTTGCAGCTG	0.557000														7			85		0	0	1	0	0
DACT1	51339	broad.mit.edu	37	14	59113603	59113603	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:59113603C>T	uc001xdw.3	+	3	2426	c.2262C>T	c.(2260-2262)ttC>ttT	p.F754F	DACT1_uc010trv.2_Silent_p.F473F|DACT1_uc001xdx.3_Silent_p.F717F|DACT1_uc010trw.2_Silent_p.F473F	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	754					Wnt receptor signaling pathway|multicellular organismal development	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CCAACTGCTTCGGGGACAGCG	0.597000														259			111		0	0	1	0	0
TNR	7143	broad.mit.edu	37	1	175375428	175375428	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:175375428G>A	uc001gkp.1	-	0	504	c.423C>T	c.(421-423)atC>atT	p.I141I	TNR_uc009wwu.1_Silent_p.I141I|TNR_uc010pmz.1_Silent_p.I141I	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	141					axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.I141I(2)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CCAGCATCTCGATCCGGCTCA	0.597000														237			77		0	0	1	0	0
LRRTM3	347731	broad.mit.edu	37	10	68687003	68687003	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:68687003G>A	uc001jmz.1	+	1	879	c.329G>A	c.(328-330)aGa>aAa	p.R110K	CTNNA3_uc009xpn.1_Intron|CTNNA3_uc001jmw.2_Intron|CTNNA3_uc001jmx.4_Intron|CTNNA3_uc009xpo.1_Intron|LRRTM3_uc001jmy.3_Missense_Mutation_p.R110K	NM_178011	NP_821079	Q86VH5	LRRT3_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 3 (LRRTM3), mRNA.	110						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						GGAATACGCAGACTCAAAGAG	0.363000														82			63		0	0	1	0	0
abParts	0	broad.mit.edu	37	14	106471512	106471512	+	RNA	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:106471512C>T	uc021ser.1	-	2492		c.43478G>A								Parts of antibodies, mostly variable regions.																		TTCTTCACCTCAGCCCCAGAC	0.582000														102			20		0	0	1	0	0
THY1	7070	broad.mit.edu	37	11	119290135	119290135	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:119290135C>T	uc001pwr.3	-	3	917	c.469G>A	c.(469-471)Gat>Aat	p.D157N	LOC100499227_uc001pwo.3_Intron|LOC100499227_uc001pwp.2_Intron	NM_006288	NP_006279	P04216	THY1_HUMAN	Homo sapiens Thy-1 cell surface antigen (THY1), mRNA.	157					T cell receptor signaling pathway|angiogenesis|cell-cell adhesion|cytoskeleton organization|focal adhesion assembly|negative regulation of T cell receptor signaling pathway|negative regulation of axonogenesis|negative regulation of cell migration|negative regulation of protein kinase activity|positive regulation of T cell activation|positive regulation of release of sequestered calcium ion into cytosol|retinal cone cell development	endoplasmic reticulum|growth cone|integral to plasma membrane|membrane raft	GPI anchor binding|Rho GTPase activator activity|integrin binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.83e-05)		GACATGAAATCCGTGGCCTGG	0.597000														4			55		0	0	1	0	0
ADAMTSL4	54507	broad.mit.edu	37	1	150525609	150525609	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:150525609A>C	uc009wlw.3	+	3	472	c.314A>C	c.(313-315)cAg>cCg	p.Q105P	ADAMTSL4_uc001euw.3_Missense_Mutation_p.Q105P|ADAMTSL4_uc001eux.3_Missense_Mutation_p.Q105P|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.Q105P	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	105					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CCCAGACCCCAGACTTCTCCA	0.667000														61			128		0	0	1	0	0
ADAMTSL1	92949	broad.mit.edu	37	9	18675859	18675859	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:18675859G>A	uc003zne.4	+	9	1242	c.1090G>A	c.(1090-1092)Gga>Aga	p.G364R	ADAMTSL1_uc003znb.3_Intron|ADAMTSL1_uc003znc.4_Missense_Mutation_p.G364R	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	364						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TAACAGTGACGGATACAAGCA	0.363000														68			41		0	0	1	0	0
SCN11A	11280	broad.mit.edu	37	3	38888345	38888345	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:38888345A>T	uc021wvy.1	-	25	5415	c.5216T>A	c.(5215-5217)aTt>aAt	p.I1739N		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1739					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)	CTTTTGAATAATAGCAGCACC	0.453000														90			131		0	0	1	0	0
TRIM69	140691	broad.mit.edu	37	15	45051047	45051047	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:45051047C>T	uc001zuf.2	+	4	1703	c.808C>T	c.(808-810)Ctc>Ttc	p.L270F	TRIM69_uc001zug.1_Missense_Mutation_p.L270F|TRIM69_uc001zuh.1_Missense_Mutation_p.L111F|TRIM69_uc001zui.1_Missense_Mutation_p.L66F|TRIM69_uc010bdy.1_Intron	NM_182985	NP_892030	Q86WT6	TRI69_HUMAN	Homo sapiens tripartite motif containing 69 (TRIM69), transcript variant a, mRNA.	270					apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CTTCGACTTTCTCAAAGTGAG	0.473000														16			8		0	0	1	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140751467	140751467	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:140751467G>A	uc003ljw.2	+	0	1506	c.1506G>A	c.(1504-1506)tcG>tcA	p.S502S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.S502S|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	504	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGCTGTCGTCCTACGTGT	0.657000														89			73		0	0	1	0	0
EZH2	2146	broad.mit.edu	37	7	148514433	148514433	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:148514433G>A	uc003wfd.2	-	10	1469	c.1276C>T	c.(1276-1278)Cct>Tct	p.P426S	EZH2_uc022aov.1_Missense_Mutation_p.P387S|EZH2_uc011kug.2_Missense_Mutation_p.P417S|EZH2_uc003wfb.2_Missense_Mutation_p.P431S|EZH2_uc003wfc.2_Missense_Mutation_p.P387S|EZH2_uc011kuh.2_Missense_Mutation_p.P417S|EZH2_uc011kui.2_3'UTR	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	426					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TTCTCAGGAGGTTCAATATTT	0.388000			Mis		DLBCL									41			28		0	0	1	0	0
IQCA1	79781	broad.mit.edu	37	2	237240134	237240134	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:237240134G>A	uc002vwb.2	-	17	2299	c.2265C>T	c.(2263-2265)gtC>gtT	p.V755V	IQCA1_uc002vvz.1_Silent_p.V747V|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Silent_p.V706V	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	747							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TAACCACTTCGACTATATGTC	0.493000														71			51		0	0	1	0	0
LAMA2	3908	broad.mit.edu	37	6	129636685	129636686	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:129636685_129636686CC>TT	uc021zfb.1	+	24	3725_3726	c.3620_3621CC>TT	c.(3619-3621)acc>aTT	p.T1207I	LAMA2_uc003qbn.3_Missense_Mutation_p.T1207I|LAMA2_uc003qbo.3_Missense_Mutation_p.T1207I	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1207	Laminin IV type A 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CACACGACCACCAAGGGCATTG	0.465000														86			50		0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31565048	31565048	+	Splice_Site	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:31565048C>T	uc002rnv.1	-	32	3598	c.3519_splice	c.e32+1	p.K1173_splice		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1173					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AAACTTCTTACCTTATGATCT	0.418000														46			42		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20869274	20869274	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:20869274G>A	uc001vxe.3	-	8	1458	c.1418C>T	c.(1417-1419)tCt>tTt	p.S473F	TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.S365F	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	473	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCGACTTCGAGAAAAGAGCTG	0.517000														70			19		0	0	1	0	0
ERAL1	26284	broad.mit.edu	37	17	27183362	27183362	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:27183362C>T	uc002hcy.1	+	1	374	c.364C>T	c.(364-366)Ccg>Tcg	p.P122S	ERAL1_uc002hcx.1_Missense_Mutation_p.P122S|ERAL1_uc002hcz.1_Non-coding_Transcript|ERAL1_uc002hda.1_5'Flank	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Homo sapiens Era G-protein-like 1 (E. coli) (ERAL1), mRNA.	122					ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|rRNA binding|ribosomal small subunit binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			CCTGGGAGCCCCGAATGCAGG	0.522000														11			182		0	0	1	0	0
GJB5	2709	broad.mit.edu	37	1	35223275	35223275	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:35223275G>A	uc001bxu.3	+	1	444	c.344G>A	c.(343-345)cGc>cAc	p.R115H	GJB5_uc021okz.1_Missense_Mutation_p.R115H|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.	115					cell communication|epidermis development	connexon complex|integral to membrane		p.R115L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				AACAGTGGGCGCCTCTACCTG	0.602000														83			82		0	0	1	0	0
OR51B6	390058	broad.mit.edu	37	11	5373410	5373410	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:5373410G>A	uc010qzb.2	+	0	673	c.673G>A	c.(673-675)Ggc>Agc	p.G225S	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACTGTCATGGGCATTGGTTC	0.428000														75			88		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70071212	70071212	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:70071212C>T	uc010kak.3	+	27	4323	c.4047C>T	c.(4045-4047)ttC>ttT	p.F1349F	BAI3_uc003pev.4_Silent_p.F1349F|BAI3_uc011dxx.2_Silent_p.F555F	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1349					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				ACCCTGAATTCAATATGAATC	0.413000														32			29		0	0	1	0	0
MUC5B	727897	broad.mit.edu	37	11	1158055	1158055	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:1158055C>T	uc021qbr.1	+	8	1082	c.1035C>T	c.(1033-1035)caC>caT	p.H345H				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	336	TIL 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TGCAGTACCACGAGTGCCGCT	0.667000														72			15		0	0	1	0	0
CUEDC1	404093	broad.mit.edu	37	17	55943871	55943871	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:55943871G>A	uc002ivd.1	-	9	1847	c.1128C>T	c.(1126-1128)ccC>ccT	p.P376P	CUEDC1_uc002ive.1_Silent_p.P376P	NM_017949	NP_060419	Q9NWM3	CUED1_HUMAN	Homo sapiens CUE domain containing 1 (CUEDC1), mRNA.	376										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						CCTCCACCTTGGGTGCCTCCT	0.632000														6			69		0	0	1	0	0
MMP11	4320	broad.mit.edu	37	22	24122860	24122860	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:24122860C>T	uc002zxx.3	+	3	596	c.574C>T	c.(574-576)Cac>Tac	p.H192Y	MMP11_uc002zxy.3_Non-coding_Transcript	NM_005940	NP_005931	P24347	MMP11_HUMAN	Homo sapiens matrix metallopeptidase 11 (stromelysin 3) (MMP11), mRNA.	192					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				AGGGGATGTCCACTTCGACTA	0.567000														49			67		0	0	1	0	0
IL36RN	26525	broad.mit.edu	37	2	113819745	113819745	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:113819745C>T	uc002tis.3	+	3	293	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L	IL36RN_uc002tit.3_Silent_p.L54L	NM_173170	NP_775262	Q9UBH0	I36RA_HUMAN	Homo sapiens interleukin 36 receptor antagonist (IL36RN), transcript variant 2, mRNA.	54						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity	p.L54M(2)		large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GGATGCCAGCCTGTCCCCCGT	0.617000														76			56		0	0	1	0	0
PPP1R36	145376	broad.mit.edu	37	14	65035145	65035145	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:65035145G>A	uc001xhl.1	+	6	609	c.513G>A	c.(511-513)aaG>aaA	p.K171K		NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 36 (PPP1R36), mRNA.	171																	CACTGGAAAAGAAACCCAAAA	0.323000														48			16		0	0	1	0	0
ELF2	1998	broad.mit.edu	37	4	140058811	140058811	+	Silent	SNP	A	G	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:140058811A>G	uc003ihp.1	-	1	296	c.45T>C	c.(43-45)ctT>ctC	p.L15L		NM_201999	NP_973728	Q15723	ELF2_HUMAN	Homo sapiens E74-like factor 2 (ets domain transcription factor) (ELF2), transcript variant 1, mRNA.	15					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					CATTGCTGGAAAGCTCCAAAA	0.333000														90			71		0	0	1	0	0
TREM1	54210	broad.mit.edu	37	6	41248704	41248704	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:41248704G>A	uc003oqf.2	-	2	658	c.594C>T	c.(592-594)atC>atT	p.I198I	TREM1_uc003oqg.2_Intron|TREM1_uc021yzj.1_Silent_p.I198I	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells 1 (TREM1), transcript variant 1, mRNA.	198					blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	TATACCTGATGATATCTGTCA	0.512000														6			90		0	0	1	0	0
DNAH5	1767	broad.mit.edu	37	5	13864608	13864608	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:13864608C>T	uc003jfd.2	-	27	4536	c.4494G>A	c.(4492-4494)agG>agA	p.R1498R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1498	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E1497K(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGGTGGTTATCCTTTCCCAGT	0.458000									Kartagener syndrome					32			46		0	0	1	0	0
CEP97	79598	broad.mit.edu	37	3	101484342	101484342	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:101484342C>T	uc003dvk.1	+	10	2572	c.2545C>T	c.(2545-2547)Cag>Tag	p.Q849*	CEP97_uc011bhf.1_Nonsense_Mutation_p.Q790*|CEP97_uc003dvl.1_Nonsense_Mutation_p.Q571*|CEP97_uc003dvm.1_Nonsense_Mutation_p.Q687*	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	849						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TCAGGGGCAGCAGCCAGAATG	0.398000														168			47		0	0	1	0	0
MET	4233	broad.mit.edu	37	7	116397781	116397781	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:116397781G>A	uc003vij.3	+	7	2242	c.2055G>A	c.(2053-2055)ggG>ggA	p.G685G	MET_uc022akk.1_Silent_p.G685G|MET_uc010lkh.3_Silent_p.G685G|MET_uc011knf.2_Silent_p.G685G|MET_uc011kne.2_Silent_p.G657G|MET_uc011kng.1_Silent_p.G685G|MET_uc011knh.1_Silent_p.G685G|MET_uc011kni.2_Silent_p.G685G|MET_uc011knj.2_Silent_p.G255G	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	685	IPT/TIG 2.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TAAACAGTGGGAATTCTAGAC	0.353000			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)					78			30		0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26881659	26881659	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:26881659G>A	uc003jgs.1	-	11	2125	c.1956C>T	c.(1954-1956)gtC>gtT	p.V652V	CDH9_uc011cnv.1_Silent_p.V245V	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	652					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGTTGTCCCGGACATCGTCTT	0.413000														53			64		0	0	1	0	0
OR13C5	138799	broad.mit.edu	37	9	107360962	107360962	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:107360962G>A	uc011lvp.2	-	0	733	c.733C>T	c.(733-735)Ctg>Ttg	p.L245L		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						ACCACAGTCAGACGAGCTGAG	0.423000														62			58		0	0	1	0	0
TXNDC5	81567	broad.mit.edu	37	6	7884654	7884654	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:7884654C>T	uc003mxv.3	-	8	1152	c.1114G>A	c.(1114-1116)Gcg>Acg	p.A372T	TXNDC5_uc003mxw.3_Missense_Mutation_p.A329T|TXNDC5_uc010jnz.3_Missense_Mutation_p.A264T	NM_030810	NP_001139021	Q8NBS9	TXND5_HUMAN	Homo sapiens thioredoxin domain containing 5 (endoplasmic reticulum) (TXNDC5), transcript variant 1, mRNA.	372	Thioredoxin 3.				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					TTGACCCCCGCCAGACCAGGG	0.488000														145			63		0	0	1	0	0
C4orf21	55345	broad.mit.edu	37	4	113527198	113527198	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:113527198G>A	uc003iau.3	-	8	2979	c.2768C>T	c.(2767-2769)cCt>cTt	p.P923L	C4orf21_uc003iaw.3_Missense_Mutation_p.P923L	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	923										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TATTTGTTTAGGAATAACAGC	0.313000														35			17		0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085024	17085024	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:17085024G>A	uc010ock.2	-	10	1451	c.1451C>T	c.(1450-1452)tCc>tTc	p.S484F	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Missense_Mutation_p.S58F					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						GCGCAGCTTGGAACGACGCTG	0.602000														191			30		0	0	1	0	0
GABRG1	2565	broad.mit.edu	37	4	46099233	46099233	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:46099233G>A	uc003gxb.3	-	1	390	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	80					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		ATATCTGGACGAAGTTTATTG	0.348000														23			21		0	0	1	0	0
TTC12	54970	broad.mit.edu	37	11	113210126	113210126	+	Silent	SNP	T	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:113210126T>A	uc001pnv.3	+	9	879	c.774T>A	c.(772-774)ctT>ctA	p.L258L	TTC12_uc001pnu.3_Silent_p.L252L|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Silent_p.L102L	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	252							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TGGAGACCCTTTCCAAGCCTG	0.483000														17			164		0	0	1	0	0
NR1D2	9975	broad.mit.edu	37	3	24003489	24003489	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:24003489C>T	uc003ccs.2	+	4	858	c.539C>T	c.(538-540)cCt>cTt	p.P180L	NR1D2_uc010hfd.2_Non-coding_Transcript|NR1D2_uc011awk.1_Missense_Mutation_p.P105L	NM_005126	NP_001138897	Q14995	NR1D2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 2 (NR1D2), transcript variant 1, mRNA.	180					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						GGTCGTATTCCTAAGCGTGAA	0.338000														25			35		0	0	1	0	0
ST6GALNAC4	27090	broad.mit.edu	37	9	130670704	130670704	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:130670704G>A	uc004bss.3	-	5	1152	c.876C>T	c.(874-876)atC>atT	p.I292I	ST6GALNAC4_uc004bst.3_Silent_p.I208I	NM_175039	NP_778205	Q9H4F1	SIA7D_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA.	292					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						GGGCGAACACGATGGGCCTCT	0.637000														69			42		0	0	1	0	0
PGPEP1L	145814	broad.mit.edu	37	15	99514379	99514379	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:99514379G>A	uc002bum.3	-	2	330	c.30C>T	c.(28-30)tcC>tcT	p.S10S	PGPEP1L_uc010bop.3_5'UTR|PGPEP1L_uc002bun.3_5'UTR	NM_001102612	NP_001161374	A6NFU8	PGPIL_HUMAN	Homo sapiens pyroglutamyl-peptidase I-like (PGPEP1L), transcript variant 1, mRNA.	10					proteolysis		cysteine-type peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						GGCCCAGCTTGGAGAGCTCCT	0.612000														21			7		0	0	1	0	0
MREG	55686	broad.mit.edu	37	2	216809589	216809589	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:216809589G>A	uc002vfo.3	-	4	938	c.642C>T	c.(640-642)ccC>ccT	p.P214P		NM_018000	NP_060470	Q8N565	MREG_HUMAN	Homo sapiens melanoregulin (MREG), mRNA.	214						apical plasma membrane		p.P214P(2)		large_intestine(1)|lung(2)	3		Renal(323;0.0328)		Epithelial(149;4.64e-07)|all cancers(144;5.56e-05)|LUSC - Lung squamous cell carcinoma(224;0.00832)|Lung(261;0.0111)		CTCTCCTTTAGGGACTTGGAA	0.488000														33			18		0	0	1	0	0
L32131	0	broad.mit.edu	37	17	58512742	58512742	+	RNA	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:58512742C>T	uc002iyr.1	-	0		c.616G>A								Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12.																		TTCTGTGGTTCGTCCTTCGTC	0.542000														0			23		0	0	1	0	0
KLHL8	57563	broad.mit.edu	37	4	88085181	88085182	+	Nonsense_Mutation	DNP	GG	AA	AA			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:88085181_88085182GG>AA	uc011cdb.1	-	8	1972_1973	c.1587_1588CC>TT	c.(1585-1590)ccccga>ccTTga	p.R530*	KLHL8_uc003hql.1_Nonsense_Mutation_p.R530*|KLHL8_uc003hqm.1_Nonsense_Mutation_p.R454*|KLHL8_uc003hqn.1_Nonsense_Mutation_p.R347*|KLHL8_uc010ikj.1_Nonsense_Mutation_p.R179*	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	Homo sapiens kelch-like 8 (Drosophila) (KLHL8), mRNA.	530										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TTGTTGCTTCGGGGGTCATACC	0.411000														62			29		0	0	1	0	0
SAMD11	148398	broad.mit.edu	37	1	874684	874684	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:874684C>T	uc001abw.1	+	6	630	c.550C>T	c.(550-552)Ccc>Tcc	p.P184S	SAMD11_uc001abx.1_Missense_Mutation_p.P63S	NM_152486	NP_689699	Q96NU1	SAM11_HUMAN	Homo sapiens sterile alpha motif domain containing 11 (SAMD11), mRNA.	184						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GGAGCTGGGGCCCAGCATGGC	0.692000														7			12		0	0	1	0	0
FBXO27	126433	broad.mit.edu	37	19	39517561	39517561	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:39517561G>A	uc002okh.3	-	4	739	c.657C>T	c.(655-657)ttC>ttT	p.F219F		NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	Homo sapiens F-box protein 27 (FBXO27), mRNA.	219	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GCACAGCAGAGAATTTATCTA	0.557000														286			118		0	0	1	0	0
RIN1	9610	broad.mit.edu	37	11	66100731	66100731	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:66100731G>A	uc001ohn.1	-	8	2000	c.1873C>T	c.(1873-1875)Cag>Tag	p.Q625*	RIN1_uc010roy.1_Nonsense_Mutation_p.Q256*|RIN1_uc009yrd.1_Nonsense_Mutation_p.Q318*|RIN1_uc010roz.1_Nonsense_Mutation_p.Q520*|RIN1_uc010rpa.1_Nonsense_Mutation_p.Q459*	NM_004292	NP_004283	Q13671	RIN1_HUMAN	Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA.	625	Ras and 14-3-3 protein binding region.|Ras-associating.				endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CCTGTTACCTGGAAGCAGTGG	0.652000														57			100		0	0	1	0	0
OPN1LW	5956	broad.mit.edu	37	X	153416285	153416285	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:153416285G>A	uc004fjz.4	+	1	303	c.270G>A	c.(268-270)tgG>tgA	p.W90*		NM_020061	NP_064445	P04000	OPSR_HUMAN	Homo sapiens opsin 1 (cone pigments), long-wave-sensitive (OPN1LW), mRNA.	90					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCTGAACTGGATCCTGGTGA	0.572000														3			59		0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222713473	222713473	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:222713473C>T	uc001hnh.1	-	3	1387	c.1329G>A	c.(1327-1329)ggG>ggA	p.G443G		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	443					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)		GGCCCACGTCCCCACAGAATA	0.542000														210			56		0	0	1	0	0
FAM59A	64762	broad.mit.edu	37	18	29848109	29848109	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr18:29848109G>A	uc002kxl.3	-	5	2412	c.2356C>T	c.(2356-2358)Ccg>Tcg	p.P786S	FAM59A_uc002kxk.2_Missense_Mutation_p.P785S	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	786								p.P785L(1)		endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						AGATGGAGCGGAGATGAGAAA	0.552000														20			32		0	0	1	0	0
SNCB	6620	broad.mit.edu	37	5	176053678	176053678	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:176053678C>T	uc010jke.1	-	1	600	c.206G>A	c.(205-207)cGg>cAg	p.R69Q	SNCB_uc021yij.1_Intron|SNCB_uc003mep.3_Intron|SNCB_uc003meq.3_Intron|SNCB_uc021yig.1_Intron|SNCB_uc021yih.1_Intron|SNCB_uc021yii.1_Intron			Q16143	SYUB_HUMAN	Homo sapiens synuclein, beta (SNCB), transcript variant 1, mRNA.	0							calcium ion binding|phospholipase inhibitor activity			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGATCATCCGCCTAAGTGA	0.627000														93			43		0	0	1	0	0
COL15A1	1306	broad.mit.edu	37	9	101804367	101804367	+	Missense_Mutation	SNP	T	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:101804367T>A	uc004azb.1	+	23	2758	c.2552T>A	c.(2551-2553)tTt>tAt	p.F851Y		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	851	Triple-helical region 4 (COL4).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TTACCTGGCTTTCCAGGACTA	0.418000														58			48		0	0	1	0	0
GJA5	2702	broad.mit.edu	37	1	147230857	147230857	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:147230857C>T	uc021ovl.1	-	0	490	c.490G>A	c.(490-492)Gag>Aag	p.E164K	GJA5_uc001eps.1_Missense_Mutation_p.E164K|GJA5_uc001ept.1_Missense_Mutation_p.E164K	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	164					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.E164Q(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			AAGCCCACCTCCATGGTGGTG	0.577000														101			163		0	0	1	0	0
EFHD1	80303	broad.mit.edu	37	2	233527636	233527636	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:233527636G>A	uc002vtc.3	+	1	635	c.427G>A	c.(427-429)Gat>Aat	p.D143N	EFHD1_uc010fyf.3_Missense_Mutation_p.D47N|EFHD1_uc002vtd.3_Missense_Mutation_p.D31N	NM_025202	NP_079478	Q9BUP0	EFHD1_HUMAN	Homo sapiens EF-hand domain family, member D1 (EFHD1), transcript variant 1, mRNA.	143	EF-hand 2.						calcium ion binding|protein binding	p.F142L(1)		NS(1)|breast(1)|large_intestine(2)|lung(3)	7		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Breast(86;0.0199)|Renal(207;0.025)		Epithelial(121;2.08e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00825)|Lung(119;0.0101)		TGAGGACTTCGATGGCAAGCT	0.622000														31			22		0	0	1	0	0
WDR31	114987	broad.mit.edu	37	9	116083796	116083797	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:116083796_116083797GG>AA	uc004bhe.3	-	7	937_938	c.632_633CC>TT	c.(631-633)acc>aTT	p.T211I	WDR31_uc004bhc.3_Missense_Mutation_p.T210I|WDR31_uc004bhd.3_Missense_Mutation_p.T86I|WDR31_uc004bhf.3_Non-coding_Transcript	NM_001012361	NP_001012361	Q8NA23	WDR31_HUMAN	Homo sapiens WD repeat domain 31 (WDR31), transcript variant 1, mRNA.	211										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						CCCACCTGAGGGTTTTATCTTC	0.475000														33			20		0	0	1	0	0
NOTCH1	4851	broad.mit.edu	37	9	139396750	139396750	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:139396750G>A	uc004chz.3	-	27	5358	c.5358C>T	c.(5356-5358)ccC>ccT	p.P1786P		NM_017617	NP_060087	P46531	NOTC1_HUMAN	Homo sapiens notch 1 (NOTCH1), mRNA.	1786					Notch receptor processing|aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent	Golgi lumen|cytosol|endoplasmic reticulum lumen|extracellular region|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.R1785R(1)|p.R1785L(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCTCGCCGAGGGGCTCCCGCC	0.697000			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)				21			11		0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34238207	34238207	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:34238207C>T	uc001bxm.1	-	12	1986	c.1809G>A	c.(1807-1809)aaG>aaA	p.K603K	CSMD2_uc001bxn.1_Silent_p.K563K	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	563	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				ATTGGTTATTCTTTTGGCATG	0.587000														99			55		0	0	1	0	0
MON1B	22879	broad.mit.edu	37	16	77228347	77228347	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:77228347C>T	uc002fez.3	+	3	921	c.591C>T	c.(589-591)atC>atT	p.I197I	MON1B_uc010vnf.2_Silent_p.I88I|MON1B_uc010vng.2_Silent_p.I51I|MON1B_uc002ffa.3_Silent_p.I77I	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	Homo sapiens MON1 homolog B (yeast) (MON1B), mRNA.	197							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						ACGCACAGATCGTGAGCACAC	0.607000														87			80		0	0	1	0	0
CELF5	60680	broad.mit.edu	37	19	3281236	3281236	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:3281236G>A	uc002lxm.3	+	5	680	c.643G>A	c.(643-645)Gac>Aac	p.D215N	CELF5_uc010dtj.2_Missense_Mutation_p.D215N|CELF5_uc002lxl.2_Missense_Mutation_p.D215N|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.	215					mRNA processing	cytoplasm|nucleus	RNA binding|nucleotide binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						CGCCGACACGGACAAGGAGCG	0.677000														94			139		0	0	1	0	0
NF1	4763	broad.mit.edu	37	17	29562694	29562694	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:29562694G>A	uc002hgg.3	+	27	4157	c.3774G>A	c.(3772-3774)tgG>tgA	p.W1258*	NF1_uc002hgh.3_Nonsense_Mutation_p.W1258*|NF1_uc010csn.2_Nonsense_Mutation_p.W1118*|NF1_uc002hgi.1_Nonsense_Mutation_p.W291*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1258	Ras-GAP.				MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)|p.W1258*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AACTGCTCTGGAACATGTTTT	0.408000			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)				34			245		0	0	1	0	0
NEUROD4	58158	broad.mit.edu	37	12	55420957	55420957	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:55420957G>A	uc001sgp.4	+	1	1112	c.734G>A	c.(733-735)aGt>aAt	p.S245N	NEUROD4_uc021qyr.1_Missense_Mutation_p.S245N	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	245					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CCTGACTGCAGTACACCCCCT	0.507000														23			38		0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9061767	9061767	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:9061767G>A	uc002mkp.3	-	2	25883	c.25679C>T	c.(25678-25680)tCt>tTt	p.S8560F		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8562	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						GGAAGAGACAGAGCTGGCTTC	0.502000														16			23		0	0	1	0	0
TMEM202	338949	broad.mit.edu	37	15	72690730	72690730	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:72690730G>A	uc002auq.3	+	0	63	c.63G>A	c.(61-63)ggG>ggA	p.G21G	TMEM202_uc002aur.3_Non-coding_Transcript	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	Homo sapiens transmembrane protein 202 (TMEM202), mRNA.	21						integral to membrane		p.G21E(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						AAATAAAGGGGAACCGGAAAT	0.443000														27			9		0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980907	121980907	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:121980907C>T	uc003eew.4	+	3	1463	c.1025C>T	c.(1024-1026)tCt>tTt	p.S342F	CASR_uc003eev.4_Missense_Mutation_p.S342F	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	342					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCCAGGAAGTCTGTCCACAAT	0.512000														6			57		0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28898548	28898548	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:28898548C>T	uc002dro.1	+	6	767	c.583C>T	c.(583-585)Cct>Tct	p.P195S	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.P195S|ATP2A1_uc002drp.1_Missense_Mutation_p.P70S|ATP2A1_uc010bym.1_5'Flank	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	195					ATP biosynthetic process|apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	ER-Golgi intermediate compartment|H zone|I band|endoplasmic reticulum membrane|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GGAGCCCGTTCCTGACCCCCG	0.572000														94			71		0	0	1	0	0
ANO2	57101	broad.mit.edu	37	12	6030448	6030448	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:6030448T>C	uc001qnm.2	-	2	352	c.280A>G	c.(280-282)Aag>Gag	p.K94E	ANO2_uc021qtt.1_Missense_Mutation_p.K98E	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	98						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TAGTCGACCTTCCTCTGACTG	0.577000														80			45		0	0	1	0	0
C12orf50	160419	broad.mit.edu	37	12	88390263	88390263	+	Splice_Site	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:88390263C>T	uc001tam.1	-	6	536	c.368_splice	c.e6-1	p.G123_splice	C12orf50_uc001tan.3_Splice_Site_p.G177_splice	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	123										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGTAGTATTCCCCTAATCAAC	0.313000														17			34		0	0	1	0	0
ZNF79	7633	broad.mit.edu	37	9	130197476	130197476	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:130197476C>T	uc004bqw.4	+	2	627	c.213C>T	c.(211-213)tcC>tcT	p.S71S	ZNF79_uc011maf.2_Silent_p.S47S|ZNF79_uc011mag.2_Silent_p.S47S	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	Homo sapiens zinc finger protein 79 (ZNF79), mRNA.	71	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CAGGAAAGTCCAGGAGCCTTG	0.473000														38			23		0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110654046	110654046	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:110654046C>T	uc004epd.3	-	0	329	c.157G>A	c.(157-159)Gag>Aag	p.E53K	DCX_uc011msv.2_Missense_Mutation_p.E53K|DCX_uc004epe.3_Intron|DCX_uc004epf.3_Intron|DCX_uc004epg.3_Intron	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	53					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TCTGTTTCCTCACACATGCCC	0.423000														11			109		0	0	1	0	0
EIF2AK2	5610	broad.mit.edu	37	2	37362678	37362678	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:37362678G>A	uc010ynh.2	-	9	1291	c.734C>T	c.(733-735)cCc>cTc	p.P245L	EIF2AK2_uc010fab.2_Missense_Mutation_p.P245L|EIF2AK2_uc010yng.2_Missense_Mutation_p.P245L|EIF2AK2_uc010fac.3_Missense_Mutation_p.P245L|EIF2AK2_uc010fad.2_Missense_Mutation_p.P245L	NM_002759	NP_002750	P19525	E2AK2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 2 (EIF2AK2), transcript variant 1, mRNA.	245					evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				GTCAAATCTGGGTGCCAAAGA	0.318000														69			66		0	0	1	0	0
KCNC2	3747	broad.mit.edu	37	12	75601706	75601706	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:75601706C>T	uc001sxg.1	-	1	602	c.58G>A	c.(58-60)Gaa>Aaa	p.E20K	KCNC2_uc009zry.3_Missense_Mutation_p.E20K|KCNC2_uc001sxe.3_Missense_Mutation_p.E20K|KCNC2_uc001sxf.3_Missense_Mutation_p.E20K|KCNC2_uc010stw.1_Missense_Mutation_p.E20K	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	20					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CGGTAGGTTTCGTGCCGGGTG	0.627000														125			56		0	0	1	0	0
E2F2	1870	broad.mit.edu	37	1	23842934	23842934	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:23842934G>A	uc001bhe.2	-	5	1365	c.938C>T	c.(937-939)cCt>cTt	p.P313L		NM_004091	NP_004082	Q14209	E2F2_HUMAN	Homo sapiens E2F transcription factor 2 (E2F2), mRNA.	313					G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		CTCCTCGGAAGGACTGTCCGG	0.622000														29			20		0	0	1	0	0
TEP1	7011	broad.mit.edu	37	14	20849134	20849134	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:20849134T>C	uc001vxe.3	-	32	4758	c.4718A>G	c.(4717-4719)gAa>gGa	p.E1573G	TEP1_uc010ahk.3_Missense_Mutation_p.E916G|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.E1465G|TEP1_uc010tlh.1_5'UTR	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1573					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGACCCAATTCCAAGTGTGC	0.532000														135			46		0	0	1	0	0
PRDM7	11105	broad.mit.edu	37	16	90128336	90128336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:90128336G>A	uc010cje.3	-	6	895	c.875C>T	c.(874-876)tCc>tTc	p.S292F	PRDM7_uc002fqo.3_Missense_Mutation_p.S86F|PRDM7_uc010cjf.3_Missense_Mutation_p.S175F|PRDM7_uc010cjg.1_Missense_Mutation_p.S86F|PRDM7_uc010cjh.1_Non-coding_Transcript	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	Homo sapiens PR domain containing 7 (PRDM7), transcript variant 1, mRNA.	292	SET.					chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TACTAGCCAGGAATATCCACT	0.507000														125			91		0	0	1	0	0
LOC440518	440518	broad.mit.edu	37	19	22780122	22780122	+	RNA	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:22780122C>T	uc002nqu.4	+	1		c.200C>T								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		CCCTGGTGTTCCTACAGGAGT	0.468000														39			74		0	0	1	0	0
ODF4	146852	broad.mit.edu	37	17	8243772	8243772	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:8243772C>T	uc002gle.1	+	0	585	c.403C>T	c.(403-405)Ctc>Ttc	p.L135F		NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN	Homo sapiens outer dense fiber of sperm tails 4 (ODF4), mRNA.	135					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						GTCCATGGGGCTCCTGCACTT	0.572000														6			45		0	0	1	0	0
MYO7B	4648	broad.mit.edu	37	2	128351213	128351213	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:128351213C>T	uc002top.3	+	17	2291	c.2238C>T	c.(2236-2238)ttC>ttT	p.F746F		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	746	IQ 1.					apical plasma membrane|myosin complex	ATP binding|actin binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CAAAAATTTTCCTGAGGGTGA	0.607000														75			57		0	0	1	0	0
SDR42E1	93517	broad.mit.edu	37	16	82033760	82033760	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:82033760G>A	uc002fgu.3	-	2	266	c.138C>T	c.(136-138)acC>acT	p.T46T		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	46					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						CTTCTGGAATGGTTTGAGCAG	0.458000														117			77		0	0	1	0	0
NBAS	51594	broad.mit.edu	37	2	15694243	15694243	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:15694243G>A	uc002rcc.1	-	3	255	c.229C>T	c.(229-231)Cct>Tct	p.P77S	NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	77								p.P77P(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGTCCATCAGGGAGCAAAAAA	0.368000														16			14		0	0	1	0	0
CXorf41	139212	broad.mit.edu	37	X	106482179	106482179	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:106482179C>T	uc004end.3	+	6	794	c.457C>T	c.(457-459)Cct>Tct	p.P153S	CXorf41_uc004enc.3_Missense_Mutation_p.P153S	NM_001169154	NP_775765	Q9NQM4	CX041_HUMAN	Homo sapiens chromosome X open reading frame 41 (CXorf41), transcript variant 1, mRNA.	153										haematopoietic_and_lymphoid_tissue(1)|lung(5)	6						AAATACAAACCCTTCTGATAT	0.294000														2			15		0	0	1	0	0
RAG1	5896	broad.mit.edu	37	11	36596731	36596731	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:36596731C>T	uc021qgb.1	+	0	1877	c.1877C>T	c.(1876-1878)tCa>tTa	p.S626L	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.S626L	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	626					T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GTCCGTTTTTCATTCACAATC	0.458000									Familial Hemophagocytic Lymphohistiocytosis					60			57		0	0	1	0	0
VASN	114990	broad.mit.edu	37	16	4431025	4431025	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:4431025C>T	uc021tch.1	+	0	147	c.147C>T	c.(145-147)gaC>gaT	p.D49D	CORO7-PAM16_uc002cwe.3_Intron|CORO7-PAM16_uc002cwf.3_Intron|CORO7-PAM16_uc002cwg.4_Intron|CORO7-PAM16_uc002cwh.4_Intron|CORO7-PAM16_uc010uxh.2_Intron|CORO7-PAM16_uc010uxi.2_Intron|CORO7-PAM16_uc002cwi.1_Intron|CORO7-PAM16_uc010uxj.1_Intron|CORO7-PAM16_uc010btp.1_Intron|VASN_uc002cwj.1_Silent_p.D49D	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN	Homo sapiens vasorin (VASN), mRNA.	49	LRRNT.					extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						TGCCCCGAGACGTGCCACCCG	0.697000														9			8		0	0	1	0	0
ZNF718	255403	broad.mit.edu	37	4	155555	155555	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:155555C>T	uc003fzw.4	+	1	1008	c.419C>T	c.(418-420)tCc>tTc	p.S140F	ZNF718_uc003fzt.4_Silent_p.I360I|ZNF718_uc003fzu.1_Intron|ZNF718_uc010iaz.3_Non-coding_Transcript	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 718 (ZNF718), mRNA.	435			K -> N (in dbSNP:rs9684215).|K -> R (in dbSNP:rs9684214).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		ATAAGAGAATCCATACTGGAG	0.373000														20			17		0	0	1	0	0
CES4A	283848	broad.mit.edu	37	16	67038037	67038037	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:67038037C>T	uc002eqv.3	+	8	1174	c.1059C>T	c.(1057-1059)gaC>gaT	p.D353D	CES4A_uc010vix.2_Silent_p.D330D|CES4A_uc002eqw.3_Silent_p.D330D|CES4A_uc010viy.2_Silent_p.D236D|CES4A_uc002eqx.3_Silent_p.D136D|CES4A_uc002eqy.3_Silent_p.D232D	NM_001190201	NP_001177130	Q5XG92	EST4A_HUMAN	Homo sapiens carboxylesterase 4A (CES4A), transcript variant 3, mRNA.	330						extracellular region	carboxylesterase activity			large_intestine(2)|liver(2)|lung(4)|ovary(1)	9						TCCCAGATGACCCTTTGGTGC	0.512000														109			88		0	0	1	0	0
MYO7A	4647	broad.mit.edu	37	11	76903241	76903241	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:76903241C>T	uc001oyb.2	+	30	4342	c.4070C>T	c.(4069-4071)cCc>cTc	p.P1357L	MYO7A_uc010rsm.1_Missense_Mutation_p.P1346L|MYO7A_uc001oyc.2_Missense_Mutation_p.P1357L|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.P568L	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1357	FERM 1.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	ATP binding|actin binding|calmodulin binding|microfilament motor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						TGGCACAGCCCCTCCGAGGAC	0.622000											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		216			76		0	0	1	0	0
CDK6	1021	broad.mit.edu	37	7	92247472	92247472	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:92247472G>A	uc011khw.2	-	6	1160	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S	CDK6_uc010lez.3_Missense_Mutation_p.P250S	NM_001259	NP_001250	Q00534	CDK6_HUMAN	Homo sapiens cyclin-dependent kinase 6 (CDK6), transcript variant 1, mRNA.	250	Protein kinase.				G1 phase of mitotic cell cycle|cell dedifferentiation|cell division|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	11	all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237)		STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			GCCTGCCTGGGAAGGGCAACA	0.438000			T	MLLT10	ALL									52			17		0	0	1	0	0
C16orf42	115939	broad.mit.edu	37	16	1400944	1400944	+	Silent	SNP	G	A	A	rs143210621		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:1400944G>A	uc002cll.3	-	2	458	c.390C>T	c.(388-390)gaC>gaT	p.D130D	GNPTG_uc002clm.3_5'Flank	NM_001001410	NP_001001410	Q9UJK0	TSR3_HUMAN	Homo sapiens chromosome 16 open reading frame 42 (C16orf42), mRNA.	130					rRNA processing					endometrium(1)|kidney(1)|lung(2)	4		Hepatocellular(780;0.0893)				ACGGTGTCTCGTCCAGCCTGG	0.632000														83			53		0	0	1	0	0
FASN	2194	broad.mit.edu	37	17	80039493	80039493	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:80039493G>A	uc002kdu.3	-	36	6507	c.6390C>T	c.(6388-6390)gcC>gcT	p.A2130A	FASN_uc002kdv.1_Non-coding_Transcript	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	2130	Acyl carrier.				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	Golgi apparatus|cytosol|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TGTGTGCCACGGCCTCCACCA	0.637000														8			57		0	0	1	0	0
PPP1R36	145376	broad.mit.edu	37	14	65035159	65035159	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:65035159A>C	uc001xhl.1	+	6	623	c.527A>C	c.(526-528)tAt>tCt	p.Y176S		NM_172365	NP_758953	Q96LQ0	CN050_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 36 (PPP1R36), mRNA.	176																	CCCAAAAGCTATATGGTGTAA	0.313000														47			13		0	0	1	0	0
TGM3	7053	broad.mit.edu	37	20	2312850	2312850	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:2312850G>A	uc002wfx.4	+	9	1633	c.1536G>A	c.(1534-1536)acG>acA	p.T512T		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	512					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	GDP binding|GTP binding|GTPase activity|acyltransferase activity|calcium ion binding|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCAGGGATACGAAGACAGTGA	0.537000														24			42		0	0	1	0	0
TMED7-TICAM2	100302736	broad.mit.edu	37	5	114961317	114961317	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:114961317T>C	uc003kre.3	-	0	560	c.173A>G	c.(172-174)aAg>aGg	p.K58R	TMED7-TICAM2_uc003krd.3_Missense_Mutation_p.K58R|TMED7-TICAM2_uc011cwd.2_Intron|TMED7-TICAM2_uc003krf.3_Missense_Mutation_p.K58R	NM_001164468	NP_001157940	Q86XR7	TCAM2_HUMAN	Homo sapiens TMED7-TICAM2 readthrough (TMED7-TICAM2), transcript variant 1, mRNA.	0					I-kappaB kinase/NF-kappaB cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|inflammatory response|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	Golgi apparatus|intrinsic to membrane|plasma membrane	protein binding|transmembrane receptor activity										CAGGGTGCACTTGGTGCCCTG	0.617000														42			18		0	0	1	0	0
VAPB	9217	broad.mit.edu	37	20	57016033	57016033	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:57016033C>T	uc002xza.3	+	4	808	c.467C>T	c.(466-468)tCt>tTt	p.S156F	VAPB_uc010zzo.2_Missense_Mutation_p.S33F|VAPB_uc002xzd.2_Intron|VAPB_uc002xzb.3_Non-coding_Transcript	NM_004738	NP_004729	O95292	VAPB_HUMAN	Homo sapiens VAMP (vesicle-associated membrane protein)-associated protein B and C (VAPB), transcript variant 1, mRNA.	156					cell death|endoplasmic reticulum unfolded protein response|positive regulation of viral genome replication|sphingolipid metabolic process|virus-host interaction	Golgi apparatus|endoplasmic reticulum membrane|integral to membrane	beta-tubulin binding|enzyme binding|protein heterodimerization activity|protein homodimerization activity|structural molecule activity			kidney(2)|lung(3)|prostate(1)	6	Lung NSC(12;0.000615)|all_lung(29;0.00186)		BRCA - Breast invasive adenocarcinoma(13;6.2e-12)|Epithelial(14;3.7e-08)|all cancers(14;3.88e-07)			GTGTCTAAGTCTCTGAGTTCT	0.388000														37			25		0	0	1	0	0
CDH12	1010	broad.mit.edu	37	5	21760756	21760756	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:21760756C>T	uc010iuc.2	-	9	2002	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	CDH12_uc011cno.1_Missense_Mutation_p.R475Q|CDH12_uc003jgk.2_Missense_Mutation_p.R515Q|BC038535_uc003jgj.3_Intron	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	515	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TGAAAGATCTCGGTCTGCAGC	0.408000										HNSCC(59;0.17)				82			128		0	0	1	0	0
ACTN2	88	broad.mit.edu	37	1	236908040	236908040	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:236908040G>A	uc001hyf.2	+	11	1574	c.1370G>A	c.(1369-1371)cGc>cAc	p.R457H	ACTN2_uc001hyg.2_Missense_Mutation_p.R249H|ACTN2_uc009xgi.1_Missense_Mutation_p.R457H|ACTN2_uc010pxu.1_Missense_Mutation_p.R146H	NM_001103	NP_001094	P35609	ACTN2_HUMAN	Homo sapiens actinin, alpha 2 (ACTN2), mRNA.	457					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	Z disc|actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium	FATZ 1 binding|ZASP binding|actin binding|calcium ion binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin Z domain binding|titin binding	p.R457C(1)|p.D456Y(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			CACCAGGACCGCGTGGAGCAG	0.642000														307			18		0	0	1	0	0
SLC12A6	9990	broad.mit.edu	37	15	34628871	34628871	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:34628871G>A	uc001zhw.3	-	0	175	c.11C>T	c.(10-12)cCa>cTa	p.P4L	SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Missense_Mutation_p.P4L|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Intron|SLC12A6_uc001zib.3_Intron|SLC12A6_uc001zic.3_Missense_Mutation_p.P4L|SLC12A6_uc010bau.3_Missense_Mutation_p.P4L|SLC12A6_uc001zid.3_Intron	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	4					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GGTGGTTTCTGGAGGATGCAT	0.443000														48			33		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38781039	38781039	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:38781039C>T	uc003ciq.3	-	13	2247	c.2247G>A	c.(2245-2247)aaG>aaA	p.K749K		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	749					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACAGGCTTCCCTTCTTGGCCA	0.502000														75			32		0	0	1	0	0
TRAPPC3	27095	broad.mit.edu	37	1	36603473	36603473	+	Missense_Mutation	SNP	A	C	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:36603473A>C	uc001bzx.3	-	3	435	c.347T>G	c.(346-348)gTg>gGg	p.V116G		NM_014408	NP_055223	O43617	TPPC3_HUMAN	Homo sapiens trafficking protein particle complex 3 (TRAPPC3), mRNA.	116						endoplasmic reticulum	guanylate cyclase activity|heme binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Myeloproliferative disorder(586;0.0393)				AGGAAGTTCCACAAAGTCCAC	0.448000														80			49		0	0	1	0	0
KCNH5	27133	broad.mit.edu	37	14	63174447	63174447	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:63174447C>T	uc001xfx.3	-	10	2797	c.2746G>A	c.(2746-2748)Gaa>Aaa	p.E916K	KCNH5_uc001xfy.3_3'UTR	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	916	CAD (involved in subunit assembly) (By similarity).				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.E916K(6)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TCTTTGAGTTCGTGTTTGACT	0.507000														181			75		0	0	1	0	0
DES	1674	broad.mit.edu	37	2	220290683	220290683	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:220290683G>A	uc002vll.3	+	8	1470	c.1384G>A	c.(1384-1386)Gcc>Acc	p.A462T		NM_001927	NP_001918	P17661	DESM_HUMAN	Homo sapiens desmin (DES), mRNA.	462	Tail.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	Z disc|cytosol	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		CGTCAGTGAGGCCACACAGCA	0.612000														79			75		0	0	1	0	0
APOF	319	broad.mit.edu	37	12	56755236	56755236	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:56755236C>A	uc001sle.1	-	1	808	c.754G>T	c.(754-756)Ggg>Tgg	p.G252W		NM_001638	NP_001629	Q13790	APOF_HUMAN	Homo sapiens apolipoprotein F (APOF), mRNA.	252					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						TGCTGAACCCCAGACCTTAAT	0.512000														127			51		1.16596e-39	1.19234e-39	1	1	0
PPP2R2C	5522	broad.mit.edu	37	4	6325200	6325200	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:6325200C>T	uc003gja.3	-	8	1197	c.1173G>A	c.(1171-1173)cgG>cgA	p.R391R	PPP2R2C_uc003gjb.3_Silent_p.R374R|PPP2R2C_uc003gjc.3_Silent_p.R391R|PPP2R2C_uc011bwd.2_Silent_p.R384R|PPP2R2C_uc011bwe.2_Silent_p.R384R	NM_181876	NP_870991	Q9Y2T4	2ABG_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, gamma (PPP2R2C), transcript variant 2, mRNA.	391					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity	p.P390L(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CGCACACGCGCCGTGGCTTGA	0.627000														21			38		0	0	1	0	0
WDR47	22911	broad.mit.edu	37	1	109554018	109554018	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:109554018C>T	uc001dwl.3	-	4	1047	c.671G>A	c.(670-672)gGa>gAa	p.G224E	WDR47_uc001dwi.3_Missense_Mutation_p.G217E|WDR47_uc001dwj.3_Missense_Mutation_p.G217E|WDR47_uc001dwk.2_Missense_Mutation_p.G189E|WDR47_uc010ovf.2_Missense_Mutation_p.G144E	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	217										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		AATTTCTTCTCCAGTTGCTTT	0.388000														126			87		0	0	1	0	0
MFHAS1	9258	broad.mit.edu	37	8	8749117	8749117	+	Nonsense_Mutation	SNP	A	C	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:8749117A>C	uc003wsj.1	-	0	2015	c.1452T>G	c.(1450-1452)taT>taG	p.Y484*		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	Homo sapiens malignant fibrous histiocytoma amplified sequence 1 (MFHAS1), mRNA.	484	Roc.									endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GGATCACCTCATAACTTTCAT	0.607000														102			39		0	0	1	0	0
CDK17	5128	broad.mit.edu	37	12	96694102	96694102	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:96694102T>C	uc001tep.2	-	5	1212	c.580A>G	c.(580-582)Aaa>Gaa	p.K194E	CDK17_uc009ztk.3_Missense_Mutation_p.K194E|CDK17_uc010svb.2_Missense_Mutation_p.K141E	NM_002595	NP_002586	Q00537	CDK17_HUMAN	Homo sapiens cyclin-dependent kinase 17 (CDK17), transcript variant 1, mRNA.	194	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						TTTTCCAATTTGATGTAGGTT	0.294000														19			37		0	0	1	0	0
COL1A1	1277	broad.mit.edu	37	17	48273994	48273994	+	Missense_Mutation	SNP	C	T	T	rs72645335		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:48273994C>T	uc002iqm.3	-	11	968	c.842G>A	c.(841-843)gGt>gAt	p.G281D		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	281	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	ACCAGCAGGACCAGCATCTCC	0.498000			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta							38			311		0	0	1	0	0
NEBL	10529	broad.mit.edu	37	10	21148696	21148696	+	Silent	SNP	A	C	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:21148696A>C	uc001iqi.3	-	7	1141	c.744T>G	c.(742-744)ccT>ccG	p.P248P	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	248					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CACTTTCAAGAGGATTGTAAT	0.284000														35			27		0	0	1	0	0
CLN3	1201	broad.mit.edu	37	16	28497790	28497791	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:28497790_28497791GG>AA	uc002dpo.3	-	7	877_878	c.554_555CC>TT	c.(553-555)tcc>tTT	p.S185F	NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_Missense_Mutation_p.S107F|CLN3_uc002dpm.3_Missense_Mutation_p.S131F|CLN3_uc010vcu.2_Missense_Mutation_p.S85F|CLN3_uc010vcv.2_Missense_Mutation_p.S161F|CLN3_uc002dpp.3_Missense_Mutation_p.S185F|CLN3_uc021tfs.1_Intron|CLN3_uc002dpt.1_Missense_Mutation_p.S85F|CLN3_uc002dpq.1_Intron|CLN3_uc010bye.1_Missense_Mutation_p.S185F|CLN3_uc002dpr.1_Intron|CLN3_uc010byf.1_Intron|CLN3_uc002dps.1_Intron|CLN3_uc002dpu.1_Intron|CLN3_uc002dpw.1_Intron|CLN3_uc010vcw.1_Missense_Mutation_p.S131F|CLN3_uc002dqa.2_Missense_Mutation_p.S236F|CLN3_uc010vcx.1_Missense_Mutation_p.S85F|CLN3_uc002dpx.1_Intron|CLN3_uc002dpy.1_Intron|CLN3_uc002dpz.1_Non-coding_Transcript	NM_000086	NP_001035897	Q13286	CLN3_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA.	185					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						CAGTCCCTGAGGACCACCAGGA	0.658000														16			10		0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50217213	50217213	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:50217213G>A	uc011arg.2	-	0	767	c.753C>T	c.(751-753)atC>atT	p.I251I	BRD1_uc011arf.2_5'UTR|BRD1_uc021wrv.1_Non-coding_Transcript|BRD1_uc003biv.3_Silent_p.I251I|BRD1_uc021wrw.1_Non-coding_Transcript|BRD1_uc003biu.4_Silent_p.I251I	NM_014577	NP_055392	O95696	BRD1_HUMAN	Homo sapiens bromodomain containing 1 (BRD1), mRNA.	251					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)		GGCCCTCGGGGATGTAGGGCA	0.642000														21			32		0	0	1	0	0
INO80	54617	broad.mit.edu	37	15	41388426	41388426	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:41388426G>A	uc001zni.3	-	1	296	c.83C>T	c.(82-84)gCc>gTc	p.A28V	INO80_uc010ucu.2_Non-coding_Transcript	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	28	Assembles INO80 complex module with putative regulatory components INO80E, INO80F, UCHL5, NFRKB, MCRS1 and IN80D.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CAACCGGAGGGCCCTCTCCAA	0.458000														28			19		0	0	1	0	0
BAI3	577	broad.mit.edu	37	6	70098620	70098620	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:70098620C>T	uc010kak.3	+	30	4682	c.4406C>T	c.(4405-4407)cCa>cTa	p.P1469L	BAI3_uc003pev.4_Missense_Mutation_p.P1469L|BAI3_uc011dxx.2_Missense_Mutation_p.P675L	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1469					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P1469L(2)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AACAAGAATCCATGGGACACT	0.468000														14			12		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57185991	57185991	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:57185991C>T	uc001cym.4	-	17	2392	c.1986G>A	c.(1984-1986)gaG>gaA	p.E662E	C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	662										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TGACAATAATCTCTTTGTCGT	0.308000														22			18		0	0	1	0	0
OR10H4	126541	broad.mit.edu	37	19	16060671	16060671	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:16060671C>T	uc010xov.2	+	0	854	c.854C>T	c.(853-855)cCc>cTc	p.P285L		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GTCTTCACCCCCTTCCTTAGC	0.453000														193			53		0	0	1	0	0
CFH	3075	broad.mit.edu	37	1	196716410	196716410	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:196716410G>A	uc001gtj.4	+	21	3903	c.3663G>A	c.(3661-3663)ggG>ggA	p.G1221G	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1221	Sushi 20.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GTTGGGATGGGAAACTGGAGT	0.358000														165			34		0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134489	128134489	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:128134489C>T	uc011ebt.2	-	3	1446	c.1297G>A	c.(1297-1299)Ggt>Agt	p.G433S	THEMIS_uc010kfa.3_Missense_Mutation_p.G336S|THEMIS_uc021zfa.1_Missense_Mutation_p.G433S|THEMIS_uc010kfb.3_Missense_Mutation_p.G398S	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	433	CABIT 2.				T cell receptor signaling pathway|negative T cell selection|positive T cell selection	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						TCTACAAAACCTCCTTCCATG	0.443000														38			33		0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140187362	140187362	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:140187362G>A	uc003lhi.2	+	0	691	c.590G>A	c.(589-591)cGg>cAg	p.R197Q	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.R197Q|PCDHAC2_uc011daa.2_Missense_Mutation_p.R197Q	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	212	Cadherin 2.				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)			CTTATATTACGGAAATCTTTA	0.463000														38			42		0	0	1	0	0
FAM123C	205147	broad.mit.edu	37	2	131521956	131521956	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:131521956G>A	uc021voy.1	+	0	2311	c.2311G>A	c.(2311-2313)Gag>Aag	p.E771K	FAM123C_uc002trw.2_Missense_Mutation_p.E771K|FAM123C_uc010fmv.2_Missense_Mutation_p.E771K|FAM123C_uc010fms.1_Missense_Mutation_p.E771K|FAM123C_uc010fmt.1_Missense_Mutation_p.E771K|FAM123C_uc010fmu.1_Missense_Mutation_p.E771K	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	771										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GGCCTCTGTGGAGGACCAGCC	0.677000														19			15		0	0	1	0	0
ZRSR2	8233	broad.mit.edu	37	X	15827342	15827342	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:15827342G>A	uc004cxg.4	+	6	503	c.458G>A	c.(457-459)tGg>tAg	p.W153*		NM_005089	NP_005080	Q15696	U2AFM_HUMAN	Homo sapiens zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 (ZRSR2), mRNA.	153					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding	p.W153*(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					GGTACCACATGGCAAAACCCA	0.383000			"""F, S, Mis"""		"""MDS, CLL"""									6			73		0	0	1	0	0
TRIM6-TRIM34	445372	broad.mit.edu	37	11	5632103	5632103	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:5632103C>T	uc001mbd.3	+	7	1345	c.1082C>T	c.(1081-1083)cCt>cTt	p.P361L	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.P307L|TRIM6-TRIM34_uc010qzj.2_Missense_Mutation_p.P158L|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.P333L|TRIM6-TRIM34_uc001mbe.3_Missense_Mutation_p.P158L|TRIM6-TRIM34_uc010qzk.2_Missense_Mutation_p.P158L|TRIM6-TRIM34_uc010qzl.2_Missense_Mutation_p.P158L|TRIM6-TRIM34_uc009yep.1_3'UTR	NM_001003818	NP_001185574	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 6 (TRIM6), transcript variant 1, mRNA.	681						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		GTATCTGGACCTTCCTGTCTG	0.483000														90			66		0	0	1	0	0
SIPA1L1	26037	broad.mit.edu	37	14	72190408	72190408	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:72190408G>A	uc001xms.3	+	15	4677	c.4316G>A	c.(4315-4317)aGt>aAt	p.S1439N	SIPA1L1_uc001xmt.3_Missense_Mutation_p.S1418N|SIPA1L1_uc001xmu.3_Missense_Mutation_p.S1418N|SIPA1L1_uc001xmv.3_Missense_Mutation_p.S1439N|SIPA1L1_uc010ttm.2_Missense_Mutation_p.S893N	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1439	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GTTTTCACCAGTGCCCGGAGT	0.537000														65			104		0	0	1	0	0
TMPRSS13	84000	broad.mit.edu	37	11	117779388	117779389	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:117779388_117779389GG>AA	uc001prs.2	-	8	1366_1367	c.1220_1221CC>TT	c.(1219-1221)acc>aTT	p.T407I	TMPRSS13_uc009yzr.2_Missense_Mutation_p.T372I|TMPRSS13_uc021qrc.1_Missense_Mutation_p.T407I|TMPRSS13_uc001prt.1_Missense_Mutation_p.T86I|TMPRSS13_uc001pru.2_Missense_Mutation_p.T407I	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA.	402	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		CCTCCTCATCGGTGTAATTGCT	0.614000														0			13		0	0	1	0	0
CXorf22	170063	broad.mit.edu	37	X	35989768	35989768	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:35989768C>T	uc004ddj.3	+	11	2102	c.2036C>T	c.(2035-2037)cCc>cTc	p.P679L	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	679										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CTAAAGTCACCCTCACTCTCA	0.398000														1			15		0	0	1	0	0
CACNA1B	774	broad.mit.edu	37	9	140953581	140953581	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:140953581C>T	uc004cog.3	+	29	4669	c.4524C>T	c.(4522-4524)atC>atT	p.I1508I	CACNA1B_uc022bqn.1_Silent_p.I1508I|CACNA1B_uc011mfd.2_Silent_p.I1109I|CACNA1B_uc004coi.3_Silent_p.I722I	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1508					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GCCTGAACATCGTGTTCACAT	0.517000														36			27		0	0	1	0	0
NAV3	89795	broad.mit.edu	37	12	78516170	78516170	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:78516170C>T	uc001syp.3	+	15	4373	c.4200C>T	c.(4198-4200)ctC>ctT	p.L1400L	NAV3_uc001syo.3_Silent_p.L1400L|NAV3_uc010sub.2_Silent_p.L900L|NAV3_uc009zsf.3_Intron	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1400	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AGAGCCTGCTCATGAGAACGG	0.552000										HNSCC(70;0.22)				161			62		0	0	1	0	0
EPHA3	2042	broad.mit.edu	37	3	89390208	89390208	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:89390208C>T	uc003dqy.3	+	3	1182	c.957C>T	c.(955-957)tcC>tcT	p.S319S	EPHA3_uc003dqx.1_Silent_p.S319S|EPHA3_uc021xbf.1_Silent_p.S319S	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	319	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding	p.P318Q(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACCCTCCATCCATGGCTTGTA	0.438000										TSP Lung(6;0.00050)				111			153		0	0	1	0	0
SLITRK4	139065	broad.mit.edu	37	X	142716833	142716833	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:142716833G>A	uc022cfm.1	-	0	2092	c.2092C>T	c.(2092-2094)Cac>Tac	p.H698Y	SLITRK4_uc022cfl.1_Missense_Mutation_p.H698Y|SLITRK4_uc004fbx.3_Missense_Mutation_p.H698Y|SLITRK4_uc004fby.3_Missense_Mutation_p.H698Y	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	698						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CCACAAGTGTGGCTCTTGCTC	0.428000														4			53		0	0	1	0	0
UBR5	51366	broad.mit.edu	37	8	103297818	103297818	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:103297818G>A	uc003ykr.2	-	38	5862	c.5407C>T	c.(5407-5409)Cct>Tct	p.P1803S	UBR5_uc003yks.2_Missense_Mutation_p.P1803S	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	1803					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TTATACTTAGGAATAAGGCCC	0.423000														12			111		0	0	1	0	0
SPRR2G	6706	broad.mit.edu	37	1	153122444	153122444	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:153122444G>A	uc021ozu.1	-	0	143	c.143C>T	c.(142-144)cCt>cTt	p.P48L	SPRR2G_uc009wod.2_Missense_Mutation_p.P48L	NM_001014291	NP_001014313	Q9BYE4	SPR2G_HUMAN	Homo sapiens small proline-rich protein 2G (SPRR2G), mRNA.	48					keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCATGGTGGAGGTGGGCAATG	0.572000														79			154		0	0	1	0	0
CA6	765	broad.mit.edu	37	1	9009404	9009404	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:9009404G>A	uc001apm.3	+	1	186	c.162G>A	c.(160-162)agG>agA	p.R54R	CA6_uc021ofu.1_Non-coding_Transcript|CA6_uc009vmn.3_Intron	NM_001215	NP_001206	P23280	CAH6_HUMAN	Homo sapiens carbonic anhydrase VI (CA6), mRNA.	54					one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTACAGAGGACGAAGGTGC	0.582000														34			18		0	0	1	0	0
TCOF1	6949	broad.mit.edu	37	5	149759245	149759245	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:149759245G>A	uc003lry.3	+	16	2917	c.2809G>A	c.(2809-2811)Gag>Aag	p.E937K	TCOF1_uc003lrw.3_Missense_Mutation_p.E937K|TCOF1_uc003lrz.3_Missense_Mutation_p.E937K|TCOF1_uc011dch.2_Missense_Mutation_p.E937K|TCOF1_uc003lrx.3_Missense_Mutation_p.E860K|TCOF1_uc003lsa.3_Missense_Mutation_p.E860K|TCOF1_uc011dci.1_Missense_Mutation_p.E366K	NM_001135243	NP_001128715	Q13428	TCOF_HUMAN	Homo sapiens Treacher Collins-Franceschetti syndrome 1 (TCOF1), transcript variant 4, mRNA.	937					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAGCAGCAGCGAGGAATCAGA	0.632000														30			25		0	0	1	0	0
GFOD1	54438	broad.mit.edu	37	6	13365764	13365764	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:13365764G>A	uc003nat.2	-	1	1131	c.384C>T	c.(382-384)ttC>ttT	p.F128F	GFOD1_uc021ylt.1_Silent_p.F25F|GFOD1_uc003nas.2_Silent_p.F25F	NM_018988	NP_001229559	Q9NXC2	GFOD1_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 1 (GFOD1), transcript variant 1, mRNA.	128						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			TCATGCGCACGAAAGCCGGCA	0.647000														92			160		0	0	1	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37482006	37482006	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:37482006G>A	uc021ppc.1	+	25	2458	c.2359G>A	c.(2359-2361)Gat>Aat	p.D787N	ANKRD30A_uc001iza.1_Missense_Mutation_p.D787N	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	843						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TCCTGATAATGATGGTTTTCT	0.289000														52			34		0	0	1	0	0
ZNF479	90827	broad.mit.edu	37	7	57187663	57187663	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:57187663G>A	uc010kzo.3	-	4	1730	c.1459C>T	c.(1459-1461)Cat>Tat	p.H487Y		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	487					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTCCAGTATGAATTCTCTTA	0.398000														64			18		0	0	1	0	0
YBX2	51087	broad.mit.edu	37	17	7193752	7193752	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:7193752G>A	uc002gfq.2	-	4	619	c.562C>T	c.(562-564)Ccc>Tcc	p.P188S		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Homo sapiens Y box binding protein 2 (YBX2), mRNA.	188	Pro-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GCAACTGAGGGAGGCCGGGGG	0.657000														9			94		0	0	1	0	0
CUL2	8453	broad.mit.edu	37	10	35349802	35349802	+	Splice_Site	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:35349802C>T	uc010qer.2	-	4	478	c.374_splice	c.e4+1	p.R125_splice	CUL2_uc021ppa.1_Splice_Site_p.R119_splice|CUL2_uc009xma.3_Splice_Site|CUL2_uc001ixv.3_Splice_Site_p.R106_splice|CUL2_uc001ixw.3_Splice_Site_p.R106_splice|CUL2_uc010qes.2_Splice_Site_p.S106_splice	NM_001198778	NP_001185707	Q13617	CUL2_HUMAN	Homo sapiens cullin 2 (CUL2), transcript variant 1, mRNA.	106					G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						GCACACTCACCTATATAAGCA	0.378000														50			40		0	0	1	0	0
FOXO3	2309	broad.mit.edu	37	6	108985310	108985310	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:108985310C>T	uc003psk.2	+	2	1590	c.1274C>T	c.(1273-1275)tCc>tTc	p.S425F	FOXO3_uc003psm.2_Missense_Mutation_p.S425F|FOXO3_uc011ean.1_Missense_Mutation_p.S205F|FOXO3_uc010kdj.1_Missense_Mutation_p.S205F	NM_201559	NP_963853	O43524	FOXO3_HUMAN	Homo sapiens forkhead box O3 (FOXO3), transcript variant 2, mRNA.	425					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		GGCCTGGGCTCCCCAACCAGC	0.597000														128			79		0	0	1	0	0
SPIRE2	84501	broad.mit.edu	37	16	89922068	89922068	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:89922068A>G	uc002foz.1	+	5	1004	c.952A>G	c.(952-954)Atc>Gtc	p.I318V	SPIRE2_uc010civ.1_Missense_Mutation_p.I233V|SPIRE2_uc010ciw.1_Missense_Mutation_p.I318V|SPIRE2_uc002fpa.1_Missense_Mutation_p.I270V|SPIRE2_uc010cix.1_Missense_Mutation_p.I185V	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	Homo sapiens spire homolog 2 (Drosophila) (SPIRE2), mRNA.	318					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CCTGGACTTTATCCGCTCACG	0.677000														42			33		0	0	1	0	0
ADRA1B	147	broad.mit.edu	37	5	159344183	159344183	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:159344183G>A	uc003lxt.1	+	0	444	c.271G>A	c.(271-273)Gac>Aac	p.D91N		NM_000679	NP_000670	P35368	ADA1B_HUMAN	Homo sapiens adrenergic, alpha-1B-, receptor (ADRA1B), mRNA.	91					G-protein signaling, coupled to cAMP nucleotide second messenger|cell proliferation|cell-cell signaling|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	GGCCATGGCCGACCTGCTGTT	0.607000														129			93		0	0	1	0	0
STRAP	11171	broad.mit.edu	37	12	16050871	16050871	+	Missense_Mutation	SNP	C	T	T	rs145164927		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:16050871C>T	uc010shw.2	+	7	1087	c.733C>T	c.(733-735)Cat>Tat	p.H245Y	STRAP_uc001rdc.4_Missense_Mutation_p.H232Y|STRAP_uc001rdd.4_Missense_Mutation_p.H138Y	NM_007178	NP_009109	Q9Y3F4	STRAP_HUMAN	Homo sapiens serine/threonine kinase receptor associated protein (STRAP), mRNA.	232					RNA splicing|mRNA processing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				TGCATCTCTTCATCCTGAGAA	0.333000														88			37		0	0	1	0	0
VHL	7428	broad.mit.edu	37	3	10183810	10183811	+	Nonsense_Mutation	DNP	CG	TT	TT	rs5030829		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:10183810_10183811CG>TT	uc003bvc.3	+	0	492_493	c.279_280CG>TT	c.(277-282)ggcgag>ggTTag	p.E94*	VHL_uc003bvd.3_Nonsense_Mutation_p.E94*	NM_000551	NP_000542	P40337	VHL_HUMAN	Homo sapiens von Hippel-Lindau tumor suppressor (VHL), transcript variant 1, mRNA.	94			Missing (in VHLD; type I).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.G93fs*66(2)|p.E94fs*39(2)|p.E94*(2)|p.E94fs*37(2)|p.V84_E94>E(2)|p.E94fs*66(2)|p.F91_E94del(2)|p.G93R(2)|p.F91fs*64(1)|p.R60fs*35(1)|p.P95fs*38(1)|p.E94fs*62(1)|p.E94fs*34(1)|p.D92fs*65(1)|p.D92_G93>G(1)|p.N90fs*38(1)|p.G93S(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		ACTTCGACGGCGAGCCGCAGCC	0.703000		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia					31			41		0	0	1	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349572	103349572	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:103349572C>A	uc022cbz.1	-	0	369	c.369G>T	c.(367-369)atG>atT	p.M123I	SLC25A53_uc004elu.3_Missense_Mutation_p.M123I	NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN	Homo sapiens mitochondrial carrier triple repeat 6 (MCART6), nuclear gene encoding mitochondrial protein, mRNA.	123					transport	integral to membrane|mitochondrial inner membrane											CCACGCCAGACATGAGCCCGG	0.592000														10			111		1.14936e-50	1.17871e-50	1	1	0
C6orf118	168090	broad.mit.edu	37	6	165715369	165715369	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:165715369G>A	uc003qum.4	-	1	478	c.442C>T	c.(442-444)Cca>Tca	p.P148S	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	148										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GCCTCCACTGGAAGGAAATCC	0.632000														64			70		0	0	1	0	0
RAD51AP2	729475	broad.mit.edu	37	2	17699610	17699610	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:17699610C>T	uc002rcl.1	-	0	97	c.73G>A	c.(73-75)Gac>Aac	p.D25N	RAD51AP2_uc010exn.1_Missense_Mutation_p.D16N	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	25										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GAATCCGGGTCCTCAGGAGGC	0.602000														93			57		0	0	1	0	0
RYR1	6261	broad.mit.edu	37	19	38934361	38934361	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:38934361C>G	uc002oit.3	+	4	479	c.349C>G	c.(349-351)Ctg>Gtg	p.L117V	RYR1_uc002oiu.3_Missense_Mutation_p.L117V	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	117	MIR 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACCCTAGTATCTGAGCTGCCT	0.642000														194			86		0	0	1	0	0
NOS1AP	9722	broad.mit.edu	37	1	162313646	162313646	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:162313646C>T	uc001gbv.2	+	5	862	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W	NOS1AP_uc010pkr.1_Missense_Mutation_p.R154W|NOS1AP_uc001gbw.2_Missense_Mutation_p.R154W|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	159	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		PDZ domain binding|nitric-oxide synthase binding	p.V158F(1)		NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			GAGAATCGTTCGGACGGTGGG	0.557000														258			79		0	0	1	0	0
OSBP	5007	broad.mit.edu	37	11	59348978	59348978	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:59348978C>T	uc001noc.1	-	9	2208	c.1728G>A	c.(1726-1728)aaG>aaA	p.K576K	OSBP_uc009ymr.1_Non-coding_Transcript	NM_002556	NP_002547	P22059	OSBP1_HUMAN	Homo sapiens oxysterol binding protein (OSBP), mRNA.	576					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGGTAACTTTCTTCCAAGTGT	0.393000														121			49		0	0	1	0	0
ANKDD1A	348094	broad.mit.edu	37	15	65214128	65214128	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:65214128G>A	uc002aoa.3	+	3	305	c.276G>A	c.(274-276)atG>atA	p.M92I	ANKDD1A_uc002anx.1_Missense_Mutation_p.M88I|ANKDD1A_uc002any.3_Missense_Mutation_p.M1I|ANKDD1A_uc002anz.3_Missense_Mutation_p.M1I|ANKDD1A_uc002aob.3_Intron|ANKDD1A_uc002aoc.3_Non-coding_Transcript|ANKDD1A_uc010bha.3_Missense_Mutation_p.M1I	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	Homo sapiens ankyrin repeat and death domain containing 1A (ANKDD1A), mRNA.	92					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						AGTTTGGGATGAATGCGCTTC	0.542000														54			36		0	0	1	0	0
PADI3	51702	broad.mit.edu	37	1	17592171	17592171	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:17592171G>A	uc001bai.3	+	3	404	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	122					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TCTGGATTGCGACCTGAACTG	0.567000														96			80		0	0	1	0	0
SLC16A12	387700	broad.mit.edu	37	10	91196032	91196032	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:91196032C>T	uc001kgm.3	-	6	1374	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	SLC16A12_uc001kgl.3_5'UTR	NM_213606	NP_998771	Q6ZSM3	MOT12_HUMAN	Homo sapiens solute carrier family 16, member 12 (monocarboxylic acid transporter 12) (SLC16A12), mRNA.	328						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						CCCATCCATTCCCACGGCAAA	0.458000														48			41		0	0	1	0	0
CC2D1A	54862	broad.mit.edu	37	19	14023144	14023144	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:14023144C>T	uc002mxo.2	+	2	504	c.205C>T	c.(205-207)Ccg>Tcg	p.P69S	CC2D1A_uc002mxn.2_Intron|CC2D1A_uc002mxp.2_Missense_Mutation_p.P69S|CC2D1A_uc010dzh.2_5'Flank	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	69					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			AGGTCCCTTGCCGATGGAGGC	0.607000														16			7		0	0	1	0	0
ASTE1	28990	broad.mit.edu	37	3	130735079	130735079	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:130735079G>A	uc010htm.1	-	4	1825	c.1618C>T	c.(1618-1620)Cac>Tac	p.H540Y	ATP2C1_uc011blh.2_Silent_p.V941V|ATP2C1_uc011bli.2_Silent_p.V970V|ATP2C1_uc003enm.3_3'UTR|ATP2C1_uc003enn.3_Silent_p.V920V|ATP2C1_uc003enp.3_3'UTR|ATP2C1_uc003ent.3_Silent_p.V936V|ATP2C1_uc003ens.3_Silent_p.V946V|ASTE1_uc003env.1_Missense_Mutation_p.H540Y|ASTE1_uc011blj.1_Non-coding_Transcript	NM_014065	NP_054784	Q2TB18	ASTE1_HUMAN	Homo sapiens asteroid homolog 1 (Drosophila) (ASTE1), mRNA.	540					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CAGAAGATGTGAGCTGTGTCT	0.537000														12			142		0	0	1	0	0
TIA1	7072	broad.mit.edu	37	2	70457969	70457969	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:70457969G>A	uc002sgj.4	-	2	358	c.141C>T	c.(139-141)ccC>ccT	p.P47P	TIA1_uc002sgk.4_Silent_p.P47P|TIA1_uc002sgl.4_Non-coding_Transcript|TIA1_uc002sgm.3_Silent_p.P47P|TIA1_uc010yqt.2_Silent_p.P47P	NM_022173	NP_071505	P31483	TIA1_HUMAN	Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein (TIA1), transcript variant 2, mRNA.	47	RRM 1.				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						CAAAACAATAGGGATCATTTC	0.363000														62			49		0	0	1	0	0
RGPD4	285190	broad.mit.edu	37	2	108488418	108488418	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:108488418G>A	uc010ywk.2	+	19	4040	c.3958G>A	c.(3958-3960)Gaa>Aaa	p.E1320K	RGPD4_uc002tdu.3_Missense_Mutation_p.E507K|RGPD4_uc010ywl.2_Intron	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1320					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGGCACTGATGAAGAATCTGA	0.408000														75			54		0	0	1	0	0
ACVRL1	94	broad.mit.edu	37	12	52306883	52306883	+	Splice_Site	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:52306883G>A	uc001rzj.3	+	3	345	c.62_splice	c.e3-1	p.G21_splice	ACVRL1_uc021qxz.1_Splice_Site_p.G21_splice|ACVRL1_uc001rzk.3_Splice_Site_p.G21_splice|ACVRL1_uc010snm.2_Intron	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	21					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of DNA replication|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	ATP binding|SMAD binding|activin binding|activin receptor activity, type I|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TGTCTTCCAGGAGACCCTGTG	0.647000														20			8		0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	144828599	144828599	+	Missense_Mutation	SNP	G	A	A	rs28736716		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:144828599G>A	uc009wig.1	+	21	2832	c.2638G>A	c.(2638-2640)Gga>Aga	p.G880R	NBPF10_uc010oxo.1_Missense_Mutation_p.G807R|NBPF10_uc010oxn.1_Missense_Mutation_p.G780R|NBPF10_uc021oth.1_Missense_Mutation_p.G542R|NBPF10_uc021otj.1_Missense_Mutation_p.G909R|NBPF10_uc021oto.1_Missense_Mutation_p.G697R|NBPF10_uc021otr.1_Missense_Mutation_p.G209R|NBPF10_uc021ots.1_Intron|NBPF10_uc001ekk.1_Missense_Mutation_p.G453R|NBPF10_uc010oyd.1_Missense_Mutation_p.G209R|NBPF10_uc010oye.2_Intron|NBPF10_uc001eli.3_Non-coding_Transcript|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron	NM_001037675	NP_001032764	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 9 (NBPF9), mRNA.	882										NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		CTCACTGGATGGATGTTATTC	0.463000														146			8		0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187627450	187627450	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:187627450C>T	uc002ups.3	+	7	2493	c.2381C>T	c.(2380-2382)tCc>tTc	p.S794F	FAM171B_uc002upr.1_Missense_Mutation_p.S761F|FAM171B_uc002upt.3_Missense_Mutation_p.S263F	NM_177454	NP_803237	Q6P995	F171B_HUMAN	Homo sapiens family with sequence similarity 171, member B (FAM171B), mRNA.	794						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCTAATACATCCCCCACTAAA	0.478000														15			8		0	0	1	0	0
CCDC105	126402	broad.mit.edu	37	19	15124564	15124564	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:15124564G>A	uc002nae.2	+	1	750	c.651G>A	c.(649-651)atG>atA	p.M217I		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	217					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						AGAGAGATATGGAAAAATCAG	0.498000														19			24		0	0	1	0	0
TRPM1	4308	broad.mit.edu	37	15	31358302	31358302	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:31358302A>G	uc021sia.1	-	5	1132	c.818T>C	c.(817-819)aTc>aCc	p.I273T	TRPM1_uc010azy.3_Missense_Mutation_p.I147T|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.I256T|TRPM1_uc001zfm.3_Missense_Mutation_p.I234T|MIR211_uc010ubm.1_5'Flank	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	234					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTGCAGGGAGATGTGCTTTTC	0.547000														129			83		0	0	1	0	0
ZSWIM2	151112	broad.mit.edu	37	2	187703837	187703837	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:187703837G>A	uc002upu.1	-	3	383	c.343C>T	c.(343-345)Cga>Tga	p.R115*		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	115					apoptosis		zinc ion binding	p.H114Y(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)			GTTTGAACTCGATGTATCCCC	0.393000														76			50		0	0	1	0	0
PTPDC1	138639	broad.mit.edu	37	9	96860134	96860134	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:96860134G>A	uc010mrj.2	+	5	1388	c.1286G>A	c.(1285-1287)aGg>aAg	p.R429K	PTPDC1_uc004auf.2_Missense_Mutation_p.R375K|PTPDC1_uc004aug.2_Missense_Mutation_p.R375K|PTPDC1_uc004auh.2_Missense_Mutation_p.R427K|PTPDC1_uc010mri.2_Missense_Mutation_p.R427K	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.	375							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R428W(2)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CTTTGGAAAAGGCGGAATGTT	0.512000														61			48		0	0	1	0	0
FHL5	9457	broad.mit.edu	37	6	97063601	97063601	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:97063601G>A	uc003pos.2	+	6	1224	c.808G>A	c.(808-810)Gaa>Aaa	p.E270K	FHL5_uc003pot.2_Missense_Mutation_p.E270K	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA.	270	LIM zinc-binding 4.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CCAGAACAAGGAAATCTTCTG	0.478000														44			22		0	0	1	0	0
SRXN1	140809	broad.mit.edu	37	20	629487	629487	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:629487G>A	uc002wea.3	-	1	346	c.285C>T	c.(283-285)tcC>tcT	p.S95S	SRXN1_uc002web.3_Non-coding_Transcript	NM_080725	NP_542763	Q9BYN0	SRXN1_HUMAN	Homo sapiens sulfiredoxin 1 (SRXN1), mRNA.	95					response to oxidative stress	cytosol	ATP binding|DNA binding|antioxidant activity|sulfiredoxin activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						AGCCCCCAAAGGAGTAGAAGT	0.607000														71			33		0	0	1	0	0
DSC3	1825	broad.mit.edu	37	18	28576896	28576896	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr18:28576896C>T	uc002kwj.4	-	14	2509	c.2354G>A	c.(2353-2355)gGa>gAa	p.G785E	DSC3_uc002kwi.4_Missense_Mutation_p.G785E	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	785					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.G784E(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GGTCTGGTTTCCTCCTTTCAT	0.502000														56			18		0	0	1	0	0
OR4B1	119765	broad.mit.edu	37	11	48239109	48239109	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:48239109G>A	uc010rhs.2	+	0	748	c.748G>A	c.(748-750)Gga>Aga	p.G250R		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						CTTGTTTTTTGGACCTGCTAT	0.478000														59			49		0	0	1	0	0
ATP2B2	491	broad.mit.edu	37	3	10452365	10452365	+	Missense_Mutation	SNP	C	T	T	rs41293357		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:10452365C>T	uc003bvt.3	-	2	773	c.334G>A	c.(334-336)Gag>Aag	p.E112K	ATP2B2_uc003bvv.3_Missense_Mutation_p.E112K|ATP2B2_uc003bvw.3_Missense_Mutation_p.E112K|ATP2B2_uc010hdp.2_Missense_Mutation_p.E112K|ATP2B2_uc010hdo.3_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	112					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GCGGCAATCTCCAGGATGATG	0.572000														179			334		0	0	1	0	0
CLPSL1	340204	broad.mit.edu	37	6	35754898	35754898	+	Splice_Site	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:35754898G>A	uc003old.4	+	2	279	c.222_splice	c.e2+1	p.Q74_splice		NM_001010886	NP_001010886	A2RUU4	CF127_HUMAN	Homo sapiens chromosome 6 open reading frame 127 (C6orf127), mRNA.	74					digestion|lipid catabolic process	extracellular region	enzyme activator activity										TCAAACGCAGGTGGGTATCGC	0.657000														70			22		0	0	1	0	0
IQGAP1	8826	broad.mit.edu	37	15	91017317	91017317	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:91017317C>T	uc002bpl.1	+	21	2628	c.2527C>T	c.(2527-2529)Cag>Tag	p.Q843*		NM_003870	NP_003861	P46940	IQGA1_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 1 (IQGAP1), mRNA.	843	IQ 4.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	GTPase inhibitor activity|Ras GTPase activator activity|calmodulin binding|protein phosphatase binding			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TATCAAAATCCAGGCTTTTAT	0.423000														41			9		0	0	1	0	0
DAGLB	221955	broad.mit.edu	37	7	6449868	6449868	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:6449868C>T	uc003sqa.3	-	13	1883	c.1713G>A	c.(1711-1713)ccG>ccA	p.P571P	DAGLB_uc003spy.3_Silent_p.P117P|DAGLB_uc003spz.3_Silent_p.P268P|DAGLB_uc011jwt.2_Silent_p.P385P|DAGLB_uc011jwu.2_Silent_p.P442P|DAGLB_uc003sqb.3_Silent_p.P290P|DAGLB_uc003sqc.3_Silent_p.P290P|DAGLB_uc011jwv.2_Non-coding_Transcript|DAGLB_uc003sqd.4_Silent_p.P530P	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	Homo sapiens diacylglycerol lipase, beta (DAGLB), transcript variant 1, mRNA.	571					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		AGCTGTAGGCCGGGGACCAGC	0.647000														21			16		0	0	1	0	0
LILRB1	10859	broad.mit.edu	37	19	55143953	55143953	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:55143953C>T	uc002qgj.3	+	6	1040	c.700C>T	c.(700-702)Cct>Tct	p.P234S	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.P234S|LILRB1_uc002qgk.3_Missense_Mutation_p.P234S|LILRB1_uc002qgm.3_Missense_Mutation_p.P234S|LILRB1_uc010erq.3_Missense_Mutation_p.P234S|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	234	Ig-like C2-type 3.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.P234S(2)		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)		GCAGCCAGGTCCTATCGTGGC	0.537000										HNSCC(37;0.09)				76			82		0	0	1	0	0
TMEM14A	28978	broad.mit.edu	37	6	52546633	52546633	+	Silent	SNP	T	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:52546633T>A	uc003pax.3	+	2	269	c.93T>A	c.(91-93)gcT>gcA	p.A31A		NM_014051	NP_054770	Q9Y6G1	TM14A_HUMAN	Homo sapiens transmembrane protein 14A (TMEM14A), mRNA.	31						integral to membrane				endometrium(2)|lung(2)	4	Lung NSC(77;0.118)					CTTTGATTGCTGGTCTTTTTG	0.408000														53			44		0	0	1	0	0
BCL11B	64919	broad.mit.edu	37	14	99697843	99697843	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:99697843G>A	uc001yga.3	-	2	746	c.479C>T	c.(478-480)tCc>tTc	p.S160F	BCL11B_uc001ygb.3_Intron	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	160						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GTGAGGGTGGGAGGAGGCAGC	0.672000			T	TLX3	T-ALL									18			12		0	0	1	0	0
NME8	51314	broad.mit.edu	37	7	37889885	37889885	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:37889885G>A	uc003tfn.3	+	2	389	c.17G>A	c.(16-18)cGa>cAa	p.R6Q		NM_016616	NP_057700	Q8N427	TXND3_HUMAN	Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.	6	Thioredoxin.				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process|cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity										AGCAAAAAACGAGAAGTCCAG	0.338000														82			131		0	0	1	0	0
APOBEC3C	27350	broad.mit.edu	37	22	39413917	39413917	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:39413917C>T	uc003awr.3	+	2	424	c.321C>T	c.(319-321)ttC>ttT	p.F107F		NM_014508	NP_055323	Q9NRW3	ABC3C_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C (APOBEC3C), mRNA.	107					DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					TGGCCGAGTTCCTGGCCAGGC	0.577000														150			236		0	0	1	0	0
OR52E4	390081	broad.mit.edu	37	11	5906360	5906360	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:5906360C>A	uc010qzs.2	+	0	838	c.838C>A	c.(838-840)Ctg>Atg	p.L280M	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTGGCTAACCTGTATGTGGT	0.398000														97			30		2.85442e-18	2.89445e-18	1	1	0
S100Z	170591	broad.mit.edu	37	5	76171199	76171199	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:76171199C>T	uc003kep.1	+	2	345	c.15C>T	c.(13-15)ctC>ctT	p.L5L	S100Z_uc003keq.4_Silent_p.L5L	NM_130772	NP_570128	Q8WXG8	S100Z_HUMAN	Homo sapiens S100 calcium binding protein Z (S100Z), mRNA.	5							calcium ion binding			large_intestine(1)|ovary(1)	2		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		CCACCCAGCTCGAGATGGCCA	0.522000														15			39		0	0	1	0	0
ENTPD6	955	broad.mit.edu	37	20	25187900	25187900	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:25187900C>T	uc002wuj.2	+	2	423	c.243C>T	c.(241-243)gcC>gcT	p.A81A	ENTPD6_uc010zsy.1_Silent_p.A81A|ENTPD6_uc010gdj.1_Silent_p.A53A|ENTPD6_uc002wum.2_Silent_p.A64A|ENTPD6_uc010zta.1_Silent_p.A81A|ENTPD6_uc002wuk.2_Silent_p.A80A|ENTPD6_uc002wul.2_Silent_p.A80A|ENTPD6_uc010ztb.1_Silent_p.A53A|ENTPD6_uc010ztc.1_Silent_p.A53A|ENTPD6_uc002wuo.2_Intron|ENTPD6_uc010zsz.1_Intron|ENTPD6_uc010ztd.1_5'Flank	NM_001247	NP_001238	O75354	ENTP6_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 6 (putative) (ENTPD6), transcript variant 1, mRNA.	81						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CCCCGGGGGCCCGGTGGGGTC	0.652000														54			69		0	0	1	0	0
STAT1	6772	broad.mit.edu	37	2	191843720	191843720	+	Missense_Mutation	SNP	T	G	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:191843720T>G	uc010fse.2	-	19	2167	c.1735A>C	c.(1735-1737)Atg>Ctg	p.M579L	STAT1_uc021vue.1_Missense_Mutation_p.M391L|STAT1_uc002usj.2_Missense_Mutation_p.M579L|STAT1_uc002usk.2_Missense_Mutation_p.M579L|STAT1_uc002usl.2_Missense_Mutation_p.M581L	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	579	SH2.				I-kappaB kinase/NF-kappaB cascade|activation of caspase activity|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|calcium ion binding|protein binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	ATGAAGCCCATGATGCACCTG	0.517000														20			20		0	0	1	0	0
RGL3	57139	broad.mit.edu	37	19	11510622	11510622	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:11510622G>A	uc002mro.2	-	15	1737	c.1673C>T	c.(1672-1674)tCc>tTc	p.S558F	RGL3_uc002mrn.2_Missense_Mutation_p.S316F|RGL3_uc002mrm.2_Missense_Mutation_p.S316F|RGL3_uc002mrp.2_Missense_Mutation_p.S552F	NM_001161616	NP_001155088	Q3MIN7	RGL3_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 3 (RGL3), transcript variant 1, mRNA.	552	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						TGACCCTGGGGACACACTGGG	0.637000														147			59		0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12183807	12183807	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:12183807C>T	uc001mjz.3	+	2	393	c.105C>T	c.(103-105)ctC>ctT	p.L35L	MICAL2_uc010rch.1_Silent_p.L35L|MICAL2_uc001mjy.3_Silent_p.L35L|MICAL2_uc001mka.3_Silent_p.L35L|MICAL2_uc010rci.2_Silent_p.L35L|MICAL2_uc001mkb.3_Silent_p.L35L|MICAL2_uc001mkc.3_Silent_p.L35L	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	35						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCAACATTCTCACACGACACC	0.527000														55			57		0	0	1	0	0
TAS2R10	50839	broad.mit.edu	37	12	10978272	10978272	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:10978272G>A	uc001qyy.1	-	0	597	c.597C>T	c.(595-597)tcC>tcT	p.S199S		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	199					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GTCTCCAAAGGGAAATGATTA	0.338000														45			50		0	0	1	0	0
PPL	5493	broad.mit.edu	37	16	4944619	4944619	+	Splice_Site	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:4944619C>T	uc002cyd.1	-	12	1333	c.1243_splice	c.e12-1	p.G415_splice		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	415					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						GAGATCAGGCCCTGGCGGGGG	0.677000														29			29		0	0	1	0	0
PLOD3	8985	broad.mit.edu	37	7	100849577	100849577	+	Silent	SNP	G	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:100849577G>T	uc003uyd.3	-	18	2658	c.2202C>A	c.(2200-2202)tcC>tcA	p.S734S		NM_001084	NP_001075	O60568	PLOD3_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	734	Fe2OG dioxygenase.				protein modification process	rough endoplasmic reticulum membrane	L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GGTCGACAAAGGACACCATGA	0.652000														178			71		2.3666e-43	2.42359e-43	1	1	0
OBSCN	84033	broad.mit.edu	37	1	228430910	228430910	+	Missense_Mutation	SNP	C	G	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:228430910C>G	uc009xez.1	+	9	3000	c.2956C>G	c.(2956-2958)Cag>Gag	p.Q986E	OBSCN_uc001hsn.3_Missense_Mutation_p.Q986E	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	986	Ig-like 10.				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)				TGCCAAGGACCAGGTGGCACA	0.587000														12			108		0	0	1	0	0
abParts	0	broad.mit.edu	37	22	22516827	22516827	+	RNA	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:22516827G>A	uc021wml.1	+	10		c.853G>A								Parts of antibodies, mostly variable regions.																		GGGATCCTCGGTCAAGCTCAC	0.557000														134			55		0	0	1	0	0
CFTR	1080	broad.mit.edu	37	7	117232393	117232393	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:117232393C>T	uc003vjd.3	+	13	2304	c.2172C>T	c.(2170-2172)atC>atT	p.I724I	CFTR_uc011knq.2_Silent_p.I130I	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	724					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|PDZ domain binding|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGAATGGCATCGAAGAGGATT	0.438000									Cystic Fibrosis					24			38		0	0	1	0	0
OXSR1	9943	broad.mit.edu	37	3	38284240	38284240	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:38284240C>T	uc003chy.3	+	11	1423	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*	OXSR1_uc010hhb.3_Nonsense_Mutation_p.R295*	NM_005109	NP_005100	O95747	OXSR1_HUMAN	Homo sapiens oxidative-stress responsive 1 (OXSR1), mRNA.	361					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TTAGTCTCCCCGAGTGAAAGA	0.338000														53			50		0	0	1	0	0
DCAF8L1	139425	broad.mit.edu	37	X	27998033	27998033	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:27998033G>A	uc004dbx.1	-	0	1534	c.1419C>T	c.(1417-1419)atC>atT	p.I473I		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	473										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCATGAACTGGATGATCTGGG	0.502000														1			15		0	0	1	0	0
ZNF609	23060	broad.mit.edu	37	15	64970529	64970529	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:64970529C>T	uc002ann.3	+	4	3617	c.3617C>T	c.(3616-3618)cCc>cTc	p.P1206L		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	1206						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGCAAGGAGCCCCGGCCAAGT	0.582000														106			70		0	0	1	0	0
AP4B1	10717	broad.mit.edu	37	1	114440554	114440554	+	Missense_Mutation	SNP	T	C	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:114440554T>C	uc001eeb.3	-	6	1396	c.1210A>G	c.(1210-1212)Act>Gct	p.T404A	LOC100287722_uc001edv.1_Non-coding_Transcript|AP4B1_uc001eec.3_Missense_Mutation_p.T236A|AP4B1_uc010owp.2_Missense_Mutation_p.T305A|AP4B1_uc001eed.3_Missense_Mutation_p.T404A|AP4B1_uc001eea.1_Missense_Mutation_p.T198A|AP4B1_uc001eee.1_5'Flank	NM_001253852	NP_001240781	Q9Y6B7	AP4B1_HUMAN	Homo sapiens adaptor-related protein complex 4, beta 1 subunit (AP4B1), transcript variant 2, mRNA.	404					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTCGGAAAGTCTGCACCACC	0.493000														71			37		0	0	1	0	0
ARHGAP22	58504	broad.mit.edu	37	10	49658879	49658879	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:49658879G>A	uc001jgu.3	-	8	1638	c.1341C>T	c.(1339-1341)tcC>tcT	p.S447S	ARHGAP22_uc001jgs.3_Silent_p.S341S|ARHGAP22_uc001jgt.3_Silent_p.S431S|ARHGAP22_uc010qgl.2_Silent_p.S388S|ARHGAP22_uc010qgm.2_Silent_p.S437S|ARHGAP22_uc001jgv.3_Silent_p.S129S|ARHGAP22_uc001jgr.3_Silent_p.S148S	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	431	Ser-rich.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTGCCGGAAGGAGGACTTCC	0.697000														8			11		0	0	1	0	0
ZFP112	7771	broad.mit.edu	37	19	44891044	44891044	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:44891044G>A	uc010xxa.2	-	3	1427	c.1384C>T	c.(1384-1386)Cca>Tca	p.P462S	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.P455S	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	748					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						CATTTGTATGGTTTCTCCCCT	0.443000														45			78		0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39606961	39606961	+	Silent	SNP	A	G	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:39606961A>G	uc003xnj.3	-	17	1959	c.1884T>C	c.(1882-1884)aaT>aaC	p.N628N	ADAM2_uc003xnk.3_Silent_p.N609N|ADAM2_uc011lck.2_Silent_p.N565N|ADAM2_uc003xnl.3_Silent_p.N472N	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	628	EGF-like.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GCTTTTTGTTATTGCATACCT	0.343000														129			57		0	0	1	0	0
CYTH4	27128	broad.mit.edu	37	22	37678613	37678613	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:37678613G>A	uc003arf.3	+	0	119	c.3G>A	c.(1-3)atG>atA	p.M1I	CYTH4_uc003ard.4_Missense_Mutation_p.M1I|CYTH4_uc003are.2_Missense_Mutation_p.M1I|CYTH4_uc011amw.2_5'UTR	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	1					regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GCGTCGGAATGGACctgtgcc	0.612000														27			15		0	0	1	0	0
USH1G	124590	broad.mit.edu	37	17	72915624	72915624	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:72915624C>T	uc002jme.1	-	1	1490	c.1307G>A	c.(1306-1308)cGa>cAa	p.R436Q	USH1G_uc010wro.1_Missense_Mutation_p.R333Q	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	436	SAM.				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GATCTTCTTTCGGGGCCCCAG	0.682000														8			79		0	0	1	0	0
SP140	11262	broad.mit.edu	37	2	231113608	231113608	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:231113608G>A	uc002vql.3	+	8	1016	c.901G>A	c.(901-903)Gat>Aat	p.D301N	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Missense_Mutation_p.D301N|SP140_uc002vqn.3_Missense_Mutation_p.D248N|SP140_uc002vqm.3_Missense_Mutation_p.D275N|SP140_uc010fxl.3_Missense_Mutation_p.D301N	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	301					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGAGACCTTTGATCTAAAAAC	0.433000														27			22		0	0	1	0	0
EHD1	10938	broad.mit.edu	37	11	64622297	64622297	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:64622297G>A	uc010rnq.1	-	5	1202	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	EHD1_uc021qkz.1_Silent_p.F54F|EHD1_uc001obu.1_Silent_p.F371F|EHD1_uc001obv.1_Silent_p.F371F	NM_006795	NP_006786	Q9H4M9	EHD1_HUMAN	Homo sapiens EH-domain containing 1 (EHD1), mRNA.	371					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|GTP binding|GTPase activity|calcium ion binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TCAGCGCCTGGAACTTGCTGA	0.637000														222			374		0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129867989	129867989	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:129867989G>A	uc009yat.3	+	13	1491	c.1074G>A	c.(1072-1074)gtG>gtA	p.V358V	PTPRE_uc001lkb.3_Silent_p.V347V|PTPRE_uc009yau.2_Silent_p.V347V|PTPRE_uc001lkd.3_Silent_p.V289V|PTPRE_uc010quq.1_Silent_p.V248V	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	347	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				CCTTCATTGTGATCGATGCCA	0.552000											OREG0020623	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		146			101		0	0	1	0	0
NLRP3	114548	broad.mit.edu	37	1	247588671	247588671	+	Silent	SNP	C	T	T	rs34698071	byFrequency	TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:247588671C>T	uc001icr.3	+	4	2064	c.1926C>T	c.(1924-1926)ttC>ttT	p.F642F	NLRP3_uc001ics.3_Silent_p.F642F|NLRP3_uc001icu.3_Silent_p.F642F|NLRP3_uc001icw.3_Silent_p.F642F|NLRP3_uc001icv.3_Silent_p.F642F|NLRP3_uc010pyw.2_Silent_p.F640F|NLRP3_uc001ict.1_Silent_p.F640F	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	642					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			AGGAGGACTTCGTGCAAAGGG	0.468000														177			23		0	0	1	0	0
OLFML2A	169611	broad.mit.edu	37	9	127572526	127572526	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:127572526C>T	uc004bov.3	+	7	1907	c.1794C>T	c.(1792-1794)gtC>gtT	p.V598V	OLFML2A_uc004bow.3_Silent_p.V384V	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	598	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						AAGGCCAGGTCGCCTACGCTT	0.637000														56			54		0	0	1	0	0
PSG4	5672	broad.mit.edu	37	19	43699191	43699191	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:43699191C>T	uc002ovy.3	-	3	1046	c.944G>A	c.(943-945)cGa>cAa	p.R315Q	PSG4_uc010xwk.1_Intron|PSG4_uc002ovz.3_Intron|PSG4_uc002owb.3_Missense_Mutation_p.R222Q	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	315	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GCCACCATATCGGTCCCGTAT	0.488000														168			105		0	0	1	0	0
PHF20	51230	broad.mit.edu	37	20	34526952	34526952	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:34526952C>T	uc002xek.1	+	15	2745	c.2634C>T	c.(2632-2634)tcC>tcT	p.S878S		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	878					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GCGATGATTCCCTTTCCCCGC	0.627000														116			36		0	0	1	0	0
CAST	831	broad.mit.edu	37	5	96073567	96073567	+	Silent	SNP	T	G	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr5:96073567T>G	uc011cuo.1	+	9	687	c.603T>G	c.(601-603)gcT>gcG	p.A201A	CAST_uc003klt.3_Silent_p.A155A|CAST_uc021ybr.1_Silent_p.A216A|CAST_uc003klx.3_Silent_p.A197A|CAST_uc003klz.1_Silent_p.A155A|CAST_uc011cup.2_Silent_p.A106A|CAST_uc011cuq.2_Silent_p.A3A|CAST_uc021ybs.1_Silent_p.A155A|CAST_uc021ybt.1_Silent_p.A133A|CAST_uc011cut.2_Silent_p.A83A|CAST_uc011cur.2_Silent_p.A141A|CAST_uc011cus.2_Silent_p.A155A|CAST_uc003kma.2_Silent_p.A114A|CAST_uc003kmd.3_Silent_p.A133A	NM_173060	NP_775083	P20810	ICAL_HUMAN	Homo sapiens calpastatin (CAST), transcript variant 2, mRNA.	155							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding	p.S201*(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		GCATGGATGCTGCTTTGGATG	0.328000														141			39		0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41267290	41267290	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:41267290A>G	uc010hia.1	+	6	1030	c.874A>G	c.(874-876)Aaa>Gaa	p.K292E	CTNNB1_uc003ckq.2_Missense_Mutation_p.K292E|CTNNB1_uc003ckp.2_Missense_Mutation_p.K292E|CTNNB1_uc003ckr.2_Missense_Mutation_p.K292E|CTNNB1_uc011azf.1_Missense_Mutation_p.K285E|CTNNB1_uc011azg.1_Missense_Mutation_p.K220E|AK311005_uc010hib.1_5'Flank	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	292					Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	AACAAATGTTAAATTCTTGGC	0.388000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of					39			20		0	0	1	0	0
APBB2	323	broad.mit.edu	37	4	40818272	40818272	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:40818272C>T	uc003gvn.3	-	17	2747	c.2117G>A	c.(2116-2118)cGa>cAa	p.R706Q	APBB2_uc010ifu.3_Missense_Mutation_p.R277Q|APBB2_uc003gvl.3_Missense_Mutation_p.R705Q|APBB2_uc003gvm.3_Missense_Mutation_p.R683Q|APBB2_uc003gvk.3_Missense_Mutation_p.R157Q|APBB2_uc021xnt.1_Missense_Mutation_p.R157Q	NM_004307	NP_004298	Q92870	APBB2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 2 (APBB2), transcript variant 1, mRNA.	705	PID 2.				cell cycle arrest|intracellular signal transduction|negative regulation of S phase of mitotic cell cycle|negative regulation of cell growth|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding	p.D705G(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CTTCTGATATCGTAACTGAAA	0.383000														55			35		0	0	1	0	0
CD163L1	283316	broad.mit.edu	37	12	7526034	7526034	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:7526034G>A	uc010sge.2	-	13	3668	c.3642C>T	c.(3640-3642)ttC>ttT	p.F1214F	CD163L1_uc001qsy.3_Silent_p.F1204F	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1204	SRCR 11.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCACCCACATGAAACCAGAGC	0.537000														93			123		0	0	1	0	0
SBNO2	22904	broad.mit.edu	37	19	1117449	1117449	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:1117449A>G	uc002lrk.4	-	14	1815	c.1577T>C	c.(1576-1578)cTg>cCg	p.L526P	SBNO2_uc002lrj.4_Missense_Mutation_p.L469P|SBNO2_uc010dse.3_Missense_Mutation_p.L509P|SBNO2_uc010dsf.3_Missense_Mutation_p.L469P	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	526					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCGACTCCAGGCCGATCCA	0.657000														13			9		0	0	1	0	0
RSPH10B	222967	broad.mit.edu	37	7	6797536	6797536	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:6797536C>T	uc003sqw.1	+	2	499	c.228C>T	c.(226-228)tcC>tcT	p.S76S	RSPH10B_uc010ktk.1_Silent_p.S76S	NM_173565	NP_001093167	B2RC85	R10B2_HUMAN	Homo sapiens radial spoke head 10 homolog B (Chlamydomonas) (RSPH10B), mRNA.	76										breast(1)|kidney(1)|lung(4)|ovary(1)|skin(4)	11		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0974)		ACGAAGAGTCCATTCTGACCA	0.458000														286			143		0	0	1	0	0
TEK	7010	broad.mit.edu	37	9	27158109	27158109	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:27158109C>T	uc011lno.2	+	1	775	c.333C>T	c.(331-333)atC>atT	p.I111I	TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Silent_p.I111I|TEK_uc003zqi.4_Silent_p.I111I|TEK_uc011lnp.2_Intron|TEK_uc003zqj.1_Silent_p.I88I	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	111	Ig-like C2-type 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GAGAGGCAATCAGGATACGAA	0.473000														83			57		0	0	1	0	0
C9orf84	158401	broad.mit.edu	37	9	114476807	114476807	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:114476807C>T	uc004bfr.3	-	14	2276	c.2141G>A	c.(2140-2142)gGg>gAg	p.G714E	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Missense_Mutation_p.G675E|C9orf84_uc010mug.3_Missense_Mutation_p.G625E	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	714										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGGCTTTTTCCCCCTAATAAA	0.368000														39			24		0	0	1	0	0
ZMYM5	9205	broad.mit.edu	37	13	20409705	20409705	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr13:20409705G>A	uc010tcn.1	-	6	1428	c.1163C>T	c.(1162-1164)cCt>cTt	p.P388L	ZMYM5_uc001umm.1_Missense_Mutation_p.P212L	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	Homo sapiens zinc finger, MYM-type 5 (ZMYM5), transcript variant 3, mRNA.	388						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ACTCTTACTAGGCATGTACTC	0.373000														11			150		0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	11012936	11012936	+	RNA	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr21:11012936G>A	uc002yis.1	-	8		c.1685C>T						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTACTTTTGTGACAATTTGTG	0.289000														23			3		0	0	1	0	0
TLR10	81793	broad.mit.edu	37	4	38777028	38777028	+	Nonsense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:38777028G>A	uc003gtj.3	-	3	822	c.184C>T	c.(184-186)Caa>Taa	p.Q62*	TLR10_uc021xnk.1_Nonsense_Mutation_p.Q48*|TLR10_uc003gti.3_Nonsense_Mutation_p.Q62*|TLR10_uc021xnl.1_Nonsense_Mutation_p.Q62*|TLR10_uc003gtk.3_Nonsense_Mutation_p.Q62*|TLR10_uc021xnm.1_Nonsense_Mutation_p.Q62*	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	62					MyD88-dependent toll-like receptor signaling pathway|inflammatory response|innate immune response	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CTCTGGAGTTGAAAAAGGAGG	0.418000														30			19		0	0	1	0	0
HYDIN	54768	broad.mit.edu	37	16	70841837	70841837	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:70841837G>A	uc002ezr.3	-	85	15160	c.15009C>T	c.(15007-15009)atC>atT	p.I5003I	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	5004										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCGATGATAGGATCAGGATGC	0.577000														92			58		0	0	1	0	0
OXA1L	5018	broad.mit.edu	37	14	23235899	23235899	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:23235899C>T	uc001wgn.2	+	0	169	c.169C>T	c.(169-171)Ctt>Ttt	p.L57F	OXA1L_uc010tnc.2_Missense_Mutation_p.L57F|OXA1L_uc001wgp.2_5'Flank	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	Homo sapiens oxidase (cytochrome c) assembly 1-like (OXA1L), nuclear gene encoding mitochondrial protein, mRNA.	0					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		AGCAAGTCCTCTTCCGGGCAA	0.607000														87			136		0	0	1	0	0
C1orf168	199920	broad.mit.edu	37	1	57206413	57206413	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:57206413C>T	uc001cym.4	-	12	2066	c.1660G>A	c.(1660-1662)Gat>Aat	p.D554N	C1orf168_uc009vzu.1_Non-coding_Transcript|C1orf168_uc001cyl.3_Non-coding_Transcript	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN	Homo sapiens chromosome 1 open reading frame 168 (C1orf168), mRNA.	554										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						TTAAATCTATCCTTTTCTTTC	0.353000														9			6		0	0	1	0	0
DEFB116	245930	broad.mit.edu	37	20	29896336	29896336	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:29896336G>A	uc010ztm.2	-	0	53	c.53C>T	c.(52-54)gCt>gTt	p.A18V		NM_001037731	NP_001032820	Q30KQ4	DB116_HUMAN	Homo sapiens defensin, beta 116 (DEFB116), mRNA.	18					defense response to bacterium	extracellular region				kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGTCTTTTGAGCCAGGATCAT	0.483000														123			55		0	0	1	0	0
CCDC59	29080	broad.mit.edu	37	12	82752017	82752017	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:82752017C>T	uc001szp.4	-	0	183	c.139G>A	c.(139-141)Ggg>Agg	p.G47R	C12orf26_uc001szq.3_5'Flank|CCDC59_uc021rbm.1_Intron	NM_014167	NP_054886	Q9P031	TAP26_HUMAN	Homo sapiens coiled-coil domain containing 59 (CCDC59), transcript variant 1, mRNA.	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						CGAACGCTCCCCACGAAGGCT	0.498000											OREG0022008	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		83			18		0	0	1	0	0
PLEKHA1	59338	broad.mit.edu	37	10	124189437	124189437	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:124189437C>T	uc001lge.2	+	11	1447	c.1198C>T	c.(1198-1200)Ccg>Tcg	p.P400S	PLEKHA1_uc001lgf.2_3'UTR|PLEKHA1_uc001lgg.2_Missense_Mutation_p.P400S|PLEKHA1_uc021qae.1_5'Flank	NM_001001974	NP_067635	Q9HB21	PKHA1_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1 (PLEKHA1), transcript variant 2, mRNA.	400					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGCGAGCCTTCCGGTCAGTGA	0.507000														38			36		0	0	1	0	0
TIAM2	26230	broad.mit.edu	37	6	155578089	155578089	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:155578089G>A	uc003qqb.3	+	28	6213	c.4940G>A	c.(4939-4941)gGa>gAa	p.G1647E	TIAM2_uc003qqe.3_Missense_Mutation_p.G1647E|TFB1M_uc003qqj.4_3'UTR|TIAM2_uc010kjj.3_Missense_Mutation_p.G1209E|TIAM2_uc003qqf.3_Missense_Mutation_p.G1023E|TIAM2_uc011efl.1_Missense_Mutation_p.G991E|TIAM2_uc003qqg.3_Missense_Mutation_p.G959E|TIAM2_uc003qqh.3_Missense_Mutation_p.G572E|TFB1M_uc003qqi.1_5'Flank	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1647					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AGGGACAGAGGAACTTTGCTC	0.532000														29			18		0	0	1	0	0
FOXD4L5	653427	broad.mit.edu	37	9	70177149	70177149	+	Missense_Mutation	SNP	C	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:70177149C>A	uc010moc.3	-	0	1667	c.835G>T	c.(835-837)Gcc>Tcc	p.A279S		NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN	Homo sapiens forkhead box D4-like 5 (FOXD4L5), mRNA.	279					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|lung(2)	7						GGTGCCCCGGCATAGACGGGG	0.682000														82			26		2.40579e-17	2.43612e-17	1	1	0
EXOC3L2	90332	broad.mit.edu	37	19	45728119	45728119	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:45728119G>A	uc002pay.1	-	5	498	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.	153										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		GATGCTTCCCGGGCCGGCTCG	0.657000														5			21		0	0	1	0	0
OR5M10	390167	broad.mit.edu	37	11	56344834	56344834	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:56344834G>A	uc001niz.1	-	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GCTACATAGCGATCCAATGCC	0.453000														125			50		0	0	1	0	0
EMILIN1	11117	broad.mit.edu	37	2	27305120	27305120	+	Silent	SNP	G	C	C	rs150542277	byFrequency	TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:27305120G>C	uc002rii.4	+	3	1180	c.681G>C	c.(679-681)gcG>gcC	p.A227A	EMILIN1_uc010eyq.2_Silent_p.A227A|EMILIN1_uc002rik.4_5'Flank	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA.	227					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGCTGACGCGGCTGCCCGCC	0.682000														37			20		0	0	1	0	0
KRT71	112802	broad.mit.edu	37	12	52946769	52946769	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:52946769G>A	uc001sao.3	-	0	163	c.93C>T	c.(91-93)tcC>tcT	p.S31S		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	31	Gly-rich.|Head.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CTGCCCGGAAGGAGGATGAGC	0.662000														150			197		0	0	1	0	0
SBF2	81846	broad.mit.edu	37	11	9861155	9861155	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:9861155G>A	uc001mib.2	-	25	3483	c.3345C>T	c.(3343-3345)ttC>ttT	p.F1115F	SBF2_uc001mif.3_Silent_p.F871F|U80769_uc001mig.3_Intron	NM_030962	NP_112224	Q86WG5	MTMRD_HUMAN	Homo sapiens SET binding factor 2 (SBF2), mRNA.	1115	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GATAGTCTCTGAAACAAGCTT	0.463000														150			129		0	0	1	0	0
RUFY4	285180	broad.mit.edu	37	2	218954061	218954061	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:218954061G>A	uc010fvl.2	+	11	2107	c.1589G>A	c.(1588-1590)cGa>cAa	p.R530Q	RUFY4_uc002vgw.3_Missense_Mutation_p.R357Q	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	530							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ATCTTTGGCCGATTTTCTCGG	0.602000														23			22		0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16535300	16535300	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:16535300G>A	uc003cay.3	-	1	359	c.77C>T	c.(76-78)cCt>cTt	p.P26L		NM_015150	NP_055965	Q14699	RFTN1_HUMAN	Homo sapiens raftlin, lipid raft linker 1 (RFTN1), mRNA.	26						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						TTCCACCTGAGGCCTCTTCAA	0.483000														323			147		0	0	1	0	0
SIGLEC17P	284367	broad.mit.edu	37	19	51671056	51671056	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:51671056G>A	uc010ycv.2	+	1	410	c.400G>A	c.(400-402)Gac>Aac	p.D134N	SIGLEC17P_uc010ycu.2_Missense_Mutation_p.D134N|SIGLEC17P_uc002pvy.4_Missense_Mutation_p.D134N|SIGLEC17P_uc002pvz.4_Missense_Mutation_p.D134N					Homo sapiens sialic acid binding Ig-like lectin, pseudogene 3 (SIGLECP3), non-coding RNA.																		CAGGAGGAGGGACAACGGTTC	0.517000														22			18		0	0	1	0	0
AKAP3	10566	broad.mit.edu	37	12	4737408	4737408	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:4737408G>A	uc001qnb.4	-	3	904	c.660C>T	c.(658-660)atC>atT	p.I220I		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	220					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TGCTCTCCTTGATCTTCAAAG	0.458000														110			49		0	0	1	0	0
XIRP2	129446	broad.mit.edu	37	2	168097225	168097225	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:168097225C>T	uc002udx.3	+	6	1110	c.1021C>T	c.(1021-1023)Cat>Tat	p.H341Y	XIRP2_uc010fpn.3_Missense_Mutation_p.H374Y|XIRP2_uc010fpo.3_Missense_Mutation_p.H341Y|XIRP2_uc002udy.3_Missense_Mutation_p.H166Y|XIRP2_uc010fpq.3_Missense_Mutation_p.H119Y|XIRP2_uc010fpr.3_Missense_Mutation_p.H119Y	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	166					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						ATCTCAGTTTCATCAATATGT	0.333000														40			42		0	0	1	0	0
RYR2	6262	broad.mit.edu	37	1	237895406	237895406	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:237895406C>T	uc001hyl.1	+	77	11116	c.10996C>T	c.(10996-10998)Cag>Tag	p.Q3666*	RYR2_uc010pya.2_Nonsense_Mutation_p.Q62*	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3666					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCCTCTACATCAGCTGATCCT	0.413000														170			27		0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79429998	79429998	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:79429998C>T	uc003hlb.2	+	62	10058	c.9618C>T	c.(9616-9618)ttC>ttT	p.F3206F	FRAS1_uc003hlc.1_Silent_p.F208F	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3201					cell communication	integral to membrane|plasma membrane	metal ion binding	p.P3205S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACCCTCATTTCCCCAGATACG	0.567000														21			10		0	0	1	0	0
SOCS4	122809	broad.mit.edu	37	14	55510993	55510993	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:55510993C>T	uc021rti.1	+	0	1234	c.1234C>T	c.(1234-1236)Cct>Tct	p.P412S	SOCS4_uc001xbo.3_Missense_Mutation_p.P412S|SOCS4_uc001xbp.3_Missense_Mutation_p.P412S	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	Homo sapiens suppressor of cytokine signaling 4 (SOCS4), transcript variant 1, mRNA.	412	SOCS box.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						CCTTCCAATTCCTTCTTCTAT	0.378000														61			23		0	0	1	0	0
USP34	9736	broad.mit.edu	37	2	61571002	61571002	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:61571002G>A	uc002sbe.3	-	15	2470	c.2448C>T	c.(2446-2448)ctC>ctT	p.L816L		NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	816					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.H815R(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GATGTTGTTGGAGGTGAGATG	0.363000														51			41		0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457557	110457557	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:110457557G>A	uc003yne.3	+	37	5563	c.5459G>A	c.(5458-5460)gGc>gAc	p.G1820D		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1820	IPT/TIG 10.				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)			GGAAGTAAAGGCTTGGCTCTG	0.483000										HNSCC(38;0.096)				6			78		0	0	1	0	0
C18orf56	494514	broad.mit.edu	37	18	657986	657986	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr18:657986G>A	uc002kkr.3	-	0	355	c.262C>T	c.(262-264)Cct>Tct	p.P88S	TYMS_uc010dka.1_Intron|TYMS_uc010dkb.1_Intron|TYMS_uc010dkc.1_Intron|C18orf56_uc021ugj.1_Missense_Mutation_p.P88S	NM_001012716	NP_001012734	Q8TAI1	CR056_HUMAN	Homo sapiens chromosome 18 open reading frame 56 (C18orf56), mRNA.	88							protein binding										TGGCGGGAAGGAGGGAGGCGC	0.721000														4			12		0	0	1	0	0
C1orf173	127254	broad.mit.edu	37	1	75037015	75037015	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:75037015C>T	uc001dgg.3	-	13	4598	c.4379G>A	c.(4378-4380)gGg>gAg	p.G1460E		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1460	Glu-rich.							p.T1459N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATCGCCACTCCCAGTGGCTGC	0.607000														103			95		0	0	1	0	0
PRPF6	24148	broad.mit.edu	37	20	62626271	62626271	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:62626271G>A	uc002yho.3	+	4	609	c.441G>A	c.(439-441)agG>agA	p.R147R	PRPF6_uc002yhp.3_Silent_p.R147R	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	147					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					ATTTCCAGAGGAAGTTGGCAG	0.522000														52			62		0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17395016	17395016	+	Missense_Mutation	SNP	A	G	G			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:17395016A>G	uc003zmz.2	+	14	2590	c.2564A>G	c.(2563-2565)aAt>aGt	p.N855S	CNTLN_uc003zmy.3_Missense_Mutation_p.N855S|CNTLN_uc010mio.3_Missense_Mutation_p.N534S	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	855						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GTTATGAGCAATGTGTTTGAG	0.453000														58			37		0	0	1	0	0
AMMECR1	9949	broad.mit.edu	37	X	109560938	109560938	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:109560938G>A	uc004eoo.3	-	0	443	c.362C>T	c.(361-363)tCc>tTc	p.S121F	AMMECR1_uc004eop.3_Missense_Mutation_p.S121F|AMMECR1_uc004eoq.3_5'UTR	NM_015365	NP_001165160	Q9Y4X0	AMER1_HUMAN	Homo sapiens Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1 (AMMECR1), transcript variant 1, mRNA.	121	AMMECR1.|Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						CATCTTCCGGGAGCCCGGCGA	0.637000														0			17		0	0	1	0	0
SEPT9	10801	broad.mit.edu	37	17	75303273	75303273	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:75303273G>A	uc002jts.4	+	1	196	c.70G>A	c.(70-72)Ggc>Agc	p.G24S	SEPT9_uc010wtk.2_Intron|SEPT9_uc002jtt.4_5'UTR	NM_001113491	NP_001106968	Q9UHD8	SEPT9_HUMAN	Homo sapiens septin 9 (SEPT9), transcript variant 1, mRNA.	24					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			TGACTCCAGTGGCCCAGGTAG	0.642000														9			127		0	0	1	0	0
ABCG4	64137	broad.mit.edu	37	11	119029561	119029561	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:119029561C>T	uc001pvs.3	+	11	1695	c.1359C>T	c.(1357-1359)ttC>ttT	p.F453F	ABCG4_uc009zar.3_Silent_p.F453F	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	453	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGGCGGTCTTCATGAGGGAGC	0.622000														32			293		0	0	1	0	0
CLPTM1	1209	broad.mit.edu	37	19	45493754	45493754	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:45493754G>A	uc002pai.3	+	9	1288	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N	CLPTM1_uc010xxf.2_Missense_Mutation_p.D310N|CLPTM1_uc010xxg.2_Missense_Mutation_p.D398N|CLPTM1_uc021uvo.1_5'Flank	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	412					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		CTACATCCTGGACAACGAGAC	0.582000														154			82		0	0	1	0	0
CEACAM6	4680	broad.mit.edu	37	19	42265924	42265924	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:42265924C>T	uc002orm.2	+	3	900	c.751C>T	c.(751-753)Cca>Tca	p.P251S		NM_002483	NP_002474	P40199	CEAM6_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen) (CEACAM6), mRNA.	251	Ig-like C2-type 2.				cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		CAATTACCGTCCAGGGGAAAA	0.517000														55			91		0	0	1	0	0
UNC5C	8633	broad.mit.edu	37	4	96140241	96140241	+	Silent	SNP	C	T	T	rs147827953	byFrequency	TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr4:96140241C>T	uc003hto.3	-	8	1877	c.1524G>A	c.(1522-1524)tcG>tcA	p.S508S	UNC5C_uc010ilc.2_Silent_p.S527S|UNC5C_uc003htq.3_Silent_p.S527S	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	508					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCTCCAACAACGACTGGGTCA	0.527000														50			61		0	0	1	0	0
ARHGEF10	9639	broad.mit.edu	37	8	1808276	1808276	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr8:1808276C>T	uc003wpr.3	+	3	585	c.407C>T	c.(406-408)cCc>cTc	p.P136L	ARHGEF10_uc003wpq.1_Missense_Mutation_p.P160L|ARHGEF10_uc003wps.3_Missense_Mutation_p.P136L|ARHGEF10_uc003wpt.3_Missense_Mutation_p.P50L|ARHGEF10_uc010lrd.2_Missense_Mutation_p.P50L|ARHGEF10_uc003wpu.3_Missense_Mutation_p.P50L	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	160					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	Rho guanyl-nucleotide exchange factor activity|kinesin binding			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TATGCGGTGCCCTCCAACCTG	0.672000														138			44		0	0	1	0	0
BDKRB2	624	broad.mit.edu	37	14	96707829	96707829	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:96707829G>A	uc010avm.1	+	2	1360	c.1164G>A	c.(1162-1164)ggG>ggA	p.G388G	BDKRB2_uc010avl.2_3'UTR|BDKRB2_uc010twu.1_Silent_p.G361G|BDKRB2_uc001yfg.2_Silent_p.G388G	NM_000623	NP_000614	P30411	BKRB2_HUMAN	Homo sapiens bradykinin receptor B2 (BDKRB2), mRNA.	388					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding	p.G388E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		ACTGGGCAGGGAGCAGACAGT	0.552000														60			25		0	0	1	0	0
OR5L2	26338	broad.mit.edu	37	11	55594854	55594854	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:55594854C>T	uc001nhy.1	+	0	160	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R54G(2)|p.S53F(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GGTCAGCTCTCGGCTCCACAC	0.473000										HNSCC(27;0.073)				290			157		0	0	1	0	0
AUTS2	26053	broad.mit.edu	37	7	70236594	70236595	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:70236594_70236595CC>TT	uc003tvw.4	+	10	2529_2530	c.1794_1795CC>TT	c.(1792-1797)ggccct>ggTTct	p.P599S	AUTS2_uc003tvx.4_Missense_Mutation_p.P599S|AUTS2_uc011keg.2_Missense_Mutation_p.P51S	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	599										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CACCCACTGGCCCTTTTGGTTC	0.535000														99			115		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38763757	38763757	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:38763757C>T	uc003ciq.3	-	18	3499	c.3499G>A	c.(3499-3501)Gga>Aga	p.G1167R		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1167					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACCAGAGATCCACTGCTGAGC	0.547000														102			39		0	0	1	0	0
HS6ST2	90161	broad.mit.edu	37	X	131762534	131762534	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chrX:131762534C>T	uc011mvd.1	-	5	2071	c.1655G>A	c.(1654-1656)cGa>cAa	p.R552Q	HS6ST2_uc011mvb.1_Missense_Mutation_p.R406Q|HS6ST2_uc011mvc.1_Missense_Mutation_p.R366Q|HS6ST2_uc011mve.1_Missense_Mutation_p.R512Q|HS6ST2_uc011mva.1_Missense_Mutation_p.R238Q	NM_001077188	NP_001070656	Q96MM7	H6ST2_HUMAN	Homo sapiens heparan sulfate 6-O-sulfotransferase 2 (HS6ST2), transcript variant L, mRNA.	512						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					CTGACGCTTTCGCCTGGCCTC	0.488000														2			46		0	0	1	0	0
OR4E2	26686	broad.mit.edu	37	14	22133747	22133747	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:22133747G>A	uc010tmd.2	+	0	451	c.451G>A	c.(451-453)Ggg>Agg	p.G151R		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TCTCTGGTTGGGGGGTACTGT	0.483000														164			71		0	0	1	0	0
SKI	6497	broad.mit.edu	37	1	2234765	2234765	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:2234765C>T	uc001aja.4	+	2	1209	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F		NM_003036	NP_003027	P12755	SKI_HUMAN	Homo sapiens v-ski sarcoma viral oncogene homolog (avian) (SKI), mRNA.	379					BMP signaling pathway|SMAD protein signal transduction|anterior/posterior axis specification|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of BMP signaling pathway|negative regulation of Schwann cell proliferation|negative regulation of activin receptor signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	PML body|cytoplasm|transcription factor complex|transcriptional repressor complex	SMAD binding|histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		TCTCTGCTTTCCGACCCTGGT	0.592000														212			165		0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7818360	7818360	+	Missense_Mutation	SNP	G	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:7818360G>T	uc001mfp.1	-	0	130	c.130C>A	c.(130-132)Ctt>Att	p.L44I		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ATTCTGATAAGAATAATTATG	0.423000														34			47		1.51943e-15	1.53214e-15	1	1	0
ZNF195	7748	broad.mit.edu	37	11	3380508	3380508	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:3380508G>A	uc001lxt.3	-	5	1912	c.1730C>T	c.(1729-1731)cCc>cTc	p.P577L	ZNF195_uc010qxr.2_Missense_Mutation_p.P558L|ZNF195_uc009ydz.3_Missense_Mutation_p.P532L|ZNF195_uc001lxu.3_Missense_Mutation_p.P509L|ZNF195_uc001lxv.3_Missense_Mutation_p.P554L|ZNF195_uc021qck.1_Missense_Mutation_p.P509L|ZNF195_uc001lxs.3_Missense_Mutation_p.P505L	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA.	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ACATTTGTAGGGTTTCTCTCC	0.398000														131			33		0	0	1	0	0
ZNF775	285971	broad.mit.edu	37	7	150093982	150093982	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:150093982G>A	uc003whf.1	+	2	538	c.413G>A	c.(412-414)gGc>gAc	p.G138D		NM_173680	NP_775951	Q96BV0	ZN775_HUMAN	Homo sapiens zinc finger protein 775 (ZNF775), mRNA.	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G138N(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TACCTCTGCGGCAAGTGCGGC	0.672000														22			27		0	0	1	0	0
TMEM8B	51754	broad.mit.edu	37	9	35846258	35846258	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:35846258C>T	uc003zyo.3	+	7	1665	c.377C>T	c.(376-378)tCc>tTc	p.S126F	TMEM8B_uc003zyk.3_Missense_Mutation_p.S126F|TMEM8B_uc003zym.3_Missense_Mutation_p.S126F|TMEM8B_uc003zyn.3_Silent_p.V21V	NM_001042590	NP_001036055	A6NDV4	TMM8B_HUMAN	Homo sapiens transmembrane protein 8B (TMEM8B), transcript variant 1, mRNA.	126					cell-matrix adhesion|regulation of growth|regulation of mitotic cell cycle	cell surface|endoplasmic reticulum|integral to membrane|mitochondrion|nucleus|plasma membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	7						CCTTCAGAGTCCCTGGCCGGC	0.632000														77			88		0	0	1	0	0
CADM3	57863	broad.mit.edu	37	1	159163824	159163824	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:159163824G>A	uc001ftl.2	+	4	864	c.685G>A	c.(685-687)Gtt>Att	p.V229I	CADM3_uc009wsy.1_Intron|CADM3_uc001ftk.2_Missense_Mutation_p.V263I	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	229					adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.T229I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					ACGCATTGAAGTTTTATGTAT	0.493000														56			100		0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100371397	100371397	+	Silent	SNP	C	T	T	rs144009891	by1000genomes	TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr7:100371397C>T	uc003uwj.3	+	30	5853	c.5688C>T	c.(5686-5688)tcC>tcT	p.S1896S	ZAN_uc003uwk.3_Silent_p.S1896S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_5'UTR	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1896	VWFC 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCACCTGCTCCGTCCACAACA	0.597000														37			11		0	0	1	0	0
PTPRK	5796	broad.mit.edu	37	6	128330378	128330378	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:128330378G>A	uc003qbk.3	-	13	2594	c.2227C>T	c.(2227-2229)Ccc>Tcc	p.P743S	PTPRK_uc010kfc.3_Missense_Mutation_p.P744S|PTPRK_uc003qbj.3_Missense_Mutation_p.P744S|PTPRK_uc011ebu.2_Missense_Mutation_p.P744S|PTPRK_uc003qbl.1_Missense_Mutation_p.P614S|PTPRK_uc011ebv.1_Missense_Mutation_p.P744S	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	743					cell migration|cellular response to UV|cellular response to reactive oxygen species|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		TGCTTGGCGGGATCTGGGATC	0.363000														23			19		0	0	1	0	0
PTPRH	5794	broad.mit.edu	37	19	55716775	55716775	+	Missense_Mutation	SNP	G	C	C			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:55716775G>C	uc002qjq.3	-	3	611	c.538C>G	c.(538-540)Ccc>Gcc	p.P180A	PTPRH_uc010esv.3_Intron|PTPRH_uc002qjs.2_Missense_Mutation_p.P187A	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	180	Fibronectin type-III 2.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		AAACACCCGGGTTCAAGTCCA	0.547000														116			175		0	0	1	0	0
FAM22F	54754	broad.mit.edu	37	9	97081905	97081905	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:97081905G>A	uc004aup.1	-	5	1496	c.1475C>T	c.(1474-1476)aCc>aTc	p.T492I		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	492										central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				CTGGGCAAGGGTGAGTCCTTC	0.612000														126			94		0	0	1	0	0
DBC1	1620	broad.mit.edu	37	9	122075522	122075522	+	Missense_Mutation	SNP	A	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr9:122075522A>T	uc004bkc.2	-	1	568	c.112T>A	c.(112-114)Ttt>Att	p.F38I	DBC1_uc004bkd.2_Missense_Mutation_p.F38I	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	38					cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						AGCCAATCAAATTCCTTGGAG	0.488000														79			67		0	0	1	0	0
MLL2	8085	broad.mit.edu	37	12	49445230	49445230	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:49445230G>A	uc001rta.4	-	9	2236	c.2236C>T	c.(2236-2238)Cgg>Tgg	p.R746W		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	746	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.E745*(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TCCTCAGGCCGGGGTGACAGG	0.697000			"""N, F, Mis"""		"""medulloblastoma, renal"""					HNSCC(34;0.089)				92			33		0	0	1	0	0
FRMPD2	143162	broad.mit.edu	37	10	49409374	49409374	+	Silent	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr10:49409374G>A	uc001jgi.3	-	14	2182	c.1851C>T	c.(1849-1851)gtC>gtT	p.V617V	FRMPD2_uc001jgh.3_Silent_p.V585V|FRMPD2_uc001jgj.3_Silent_p.V586V	NM_001018071	NP_001018081	Q68DX3	FRPD2_HUMAN	Homo sapiens FERM and PDZ domain containing 2 (FRMPD2), transcript variant 3, mRNA.	617	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CTGAATCTGTGACAAATGTGT	0.458000														100			67		0	0	1	0	0
CNTNAP1	8506	broad.mit.edu	37	17	40837994	40837994	+	Silent	SNP	A	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr17:40837994A>T	uc002iay.3	+	5	951	c.735A>T	c.(733-735)ccA>ccT	p.P245P	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	245	Laminin G-like 1.				axon guidance|cell adhesion	paranode region of axon	SH3 domain binding|SH3/SH2 adaptor activity|receptor activity|receptor binding			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CTATCCAGCCAAGACCAGGTC	0.597000														21			189		0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72984850	72984850	+	Missense_Mutation	SNP	G	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:72984850G>A	uc002fck.3	-	2	3407	c.2734C>T	c.(2734-2736)Ccc>Tcc	p.P912S	ZFHX3_uc002fcl.3_5'UTR	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	912					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ATGTCTAGGGGGATCTCACCG	0.647000														83			66		0	0	1	0	0
PC	5091	broad.mit.edu	37	11	66631255	66631255	+	Missense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:66631255C>T	uc001ojn.1	-	9	1407	c.1358G>A	c.(1357-1359)cGa>cAa	p.R453Q	PC_uc001ojo.1_Missense_Mutation_p.R453Q|PC_uc001ojp.1_Missense_Mutation_p.R453Q	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	453	Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CTTCACACCTCGGACGCGGAA	0.662000														135			69		0	0	1	0	0
RGPD3	653489	broad.mit.edu	37	2	107040302	107040302	+	Nonsense_Mutation	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:107040302C>T	uc010ywi.1	-	19	4178	c.4121G>A	c.(4120-4122)tGg>tAg	p.W1374*		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1374	RanBD1 2.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CCTTTCTTTCCATTGACCAAC	0.358000														131			73		0	0	1	0	0
LOC100130331	100130331	broad.mit.edu	37	1	238090447	238090447	+	RNA	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:238090447C>T	uc010pyc.2	+	11		c.1953C>T								Homo sapiens POTE ankyrin domain family, member F pseudogene (LOC100130331), non-coding RNA.																		TGCTGCTGATCGAGGCCTGCC	0.577000														179			24		0	0	1	0	0
GCA	25801	broad.mit.edu	37	2	163216050	163216050	+	Silent	SNP	C	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr2:163216050C>T	uc002ucg.3	+	6	791	c.615C>T	c.(613-615)ttC>ttT	p.F205F		NM_012198	NP_036330	P28676	GRAN_HUMAN	Homo sapiens grancalcin, EF-hand calcium binding protein (GCA), mRNA.	205					cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						CTGCGAATTTCATATATGACG	0.294000														8			13		0	0	1	0	0
UFC1	51506	broad.mit.edu	37	1	161128000	161128000	+	Splice_Site	SNP	G	T	T	rs144419091		TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:161128000G>T	uc001fyd.4	+	5	677	c.423_splice	c.e5+1	p.G141_splice	USP21_uc010pkc.2_5'Flank|USP21_uc010pkd.2_5'Flank	NM_016406	NP_057490	Q9Y3C8	UFC1_HUMAN	Homo sapiens ubiquitin-fold modifier conjugating enzyme 1 (UFC1), mRNA.	141					protein ufmylation		UFM1 conjugating enzyme activity|protein binding			endometrium(1)|lung(9)	10	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATGGCTCTGGGGGTAAGTTTT	0.453000														214			50		2.5401e-28	2.59025e-28	1	1	0
TSEN15	116461	broad.mit.edu	37	1	184041309	184041310	+	Frame_Shift_Del	DEL	GG	-	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:184041309_184041310delGG	uc001gqt.4	+	3	451_452	c.372_373delGG	c.(370-375)aaggcafs	p.K124fs	TSEN15_uc001gqu.4_Intron|TSEN15_uc009wyg.3_Non-coding_Transcript	NM_052965	NP_443197	Q8WW01	SEN15_HUMAN	Homo sapiens tRNA splicing endonuclease 15 homolog (S. cerevisiae) (TSEN15), transcript variant 1, mRNA.	124					mRNA processing|tRNA processing	nucleolus	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(2)	8						AGATCTTGAAGGCATCTCGAAA	0.381													---	117	---	---	39	---					
GPR25	2848	broad.mit.edu	37	1	200842776	200842778	+	In_Frame_Del	DEL	TGC	-	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr1:200842776_200842778delTGC	uc001gvn.1	+	0	611_613	c.611_613delTGC	c.(610-615)ttgctg>ttg	p.204_205LL>L		NM_005298	NP_005289	O00155	GPR25_HUMAN	Homo sapiens G protein-coupled receptor 25 (GPR25), mRNA.	204	Poly-Leu.					integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GGCCTCAGCTTGCTGCTGCTGCT	0.724													---	90	---	---	9	---					
FXR1	8087	broad.mit.edu	37	3	180666228	180666228	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr3:180666228delA	uc003fkq.3	+	4	604	c.364delA	c.(364-366)aaafs	p.K122fs	FXR1_uc003fkp.3_Frame_Shift_Del_p.K37fs|FXR1_uc003fkr.3_Frame_Shift_Del_p.K122fs|FXR1_uc011bqj.2_Frame_Shift_Del_p.K36fs|FXR1_uc003fks.3_Frame_Shift_Del_p.K36fs|FXR1_uc011bqk.2_Frame_Shift_Del_p.K73fs|FXR1_uc011bql.2_Frame_Shift_Del_p.K109fs	NM_005087	NP_001013457	P51114	FXR1_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 1 (FXR1), transcript variant 1, mRNA.	122					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome		p.N124fs*14(1)		breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TAAAACTGTCAAAAAAAATAC	0.333													---	118	---	---	7	---					
SMAP1	60682	broad.mit.edu	37	6	71508369	71508370	+	Frame_Shift_Ins	INS	-	A	A			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:71508369_71508370insA	uc003pfr.3	+	5	753_754	c.505_506insA	c.(505-507)gaafs	p.E169fs	SMAP1_uc011dxy.1_Non-coding_Transcript|SMAP1_uc003pfs.3_Frame_Shift_Ins_p.E142fs|SMAP1_uc010kao.3_Frame_Shift_Ins_p.E142fs|SMAP1_uc010kap.3_Frame_Shift_Ins_p.E159fs	NM_001044305	NP_001037770	Q8IYB5	SMAP1_HUMAN	Homo sapiens small ArfGAP 1 (SMAP1), transcript variant 1, mRNA.	169					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding	p.K145fs*48(1)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						gaaagaaaaggaaaaaaaaaag	0.287													---	4	---	---	2	---					
ARID1B	57492	broad.mit.edu	37	6	157099427	157099429	+	In_Frame_Del	DEL	CAG	-	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr6:157099427_157099429delCAG	uc003qqp.3	+	0	364_366	c.364_366delCAG	c.(364-366)cagdel	p.Q131del	ARID1B_uc003qqo.3_In_Frame_Del_p.Q131del|ARID1B_uc003qqn.3_In_Frame_Del_p.Q131del	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	131	Gln-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)		gcagcagcaacagcagcagcagc	0.650													---	3	---	---	3	---					
TSG101	7251	broad.mit.edu	37	11	18505466	18505466	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr11:18505466delT	uc001mor.3	-	7	934	c.794delA	c.(793-795)aagfs	p.K265fs		NM_006292	NP_006283	Q99816	TS101_HUMAN	Homo sapiens tumor susceptibility gene 101 (TSG101), mRNA.	265					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	DNA binding|calcium-dependent protein binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTGGTGACCCTTTTTCAGGTC	0.438													---	882	---	---	9	---					
PTPN11	5781	broad.mit.edu	37	12	112920001	112920002	+	Frame_Shift_Ins	INS	-	T	T			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr12:112920001_112920002insT	uc001ttx.3	+	9	1596_1597	c.1216_1217insT	c.(1216-1218)gttfs	p.V406fs	PTPN11_uc001ttw.1_Frame_Shift_Ins_p.V406fs	NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	406	Tyrosine-protein phosphatase.				T cell costimulation|axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ACTTTCAAAGGTTGGACAAGTA	0.411			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome				---	153	---	---	50	---					
GSX1	219409	broad.mit.edu	37	13	28367927	28367929	+	In_Frame_Del	DEL	GGC	-	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr13:28367927_28367929delGGC	uc001urr.1	+	1	685_687	c.637_639delGGC	c.(637-639)ggcdel	p.G218del		NM_145657	NP_663632	Q9H4S2	GSX1_HUMAN	Homo sapiens GS homeobox 1 (GSX1), mRNA.	218	Poly-Gly.				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		CAACCATCgtggcggcggcggcg	0.631													---	224	---	---	7	---					
NOVA1	4857	broad.mit.edu	37	14	26917883	26917883	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr14:26917883delC	uc001wqa.3	-	5	1226	c.440delG	c.(439-441)ggafs	p.G147fs	NOVA1_uc001wpy.3_Frame_Shift_Del_p.G269fs|NOVA1_uc001wpz.3_Frame_Shift_Del_p.G245fs	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	272					RNA splicing|locomotory behavior|synaptic transmission	nucleus	RNA binding	p.G269V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		ATAAGGAGATCCGGTTGGATT	0.483													---	155	---	---	78	---					
APBA2	321	broad.mit.edu	37	15	29346361	29346363	+	In_Frame_Del	DEL	GAG	-	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:29346361_29346363delGAG	uc001zck.3	+	2	478_480	c.274_276delGAG	c.(274-276)gagdel	p.E95del	APBA2_uc010azj.2_In_Frame_Del_p.E95del|APBA2_uc010uat.2_In_Frame_Del_p.E95del|APBA2_uc001zcl.3_In_Frame_Del_p.E95del|APBA2_uc010uas.1_In_Frame_Del_p.E95del	NM_005503	NP_005494	Q99767	APBA2_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 2 (APBA2), transcript variant 1, mRNA.	95	Poly-Glu.				nervous system development|protein transport		protein binding	p.E95G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGGCCTCCCTGAGGAGGAGGAGG	0.601													---	436	---	---	7	---					
SPG11	80208	broad.mit.edu	37	15	44876328	44876328	+	Frame_Shift_Del	DEL	G	-	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr15:44876328delG	uc001ztx.3	-	29	5581	c.5550delC	c.(5548-5550)aacfs	p.N1850fs	SPG11_uc010bdw.3_Frame_Shift_Del_p.N139fs|SPG11_uc010ueh.2_Frame_Shift_Del_p.N1850fs|SPG11_uc010uei.2_Frame_Shift_Del_p.N1850fs|SPG11_uc001zty.1_Frame_Shift_Del_p.N579fs	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	1850					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ATTTTGATGTGTTCAGAGCAG	0.413													---	70	---	---	41	---					
MAPK8IP3	23162	broad.mit.edu	37	16	1816383	1816383	+	Frame_Shift_Del	DEL	C	-	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr16:1816383delC	uc010uvl.2	+	21	2912	c.2792delC	c.(2791-2793)accfs	p.T931fs	MAPK8IP3_uc002cmk.3_Frame_Shift_Del_p.T930fs|MAPK8IP3_uc002cml.3_Frame_Shift_Del_p.T920fs|MAPK8IP3_uc021tah.1_Frame_Shift_Del_p.T924fs	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	930					vesicle-mediated transport	Golgi membrane	MAP-kinase scaffold activity|kinesin binding|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CCAGCCCCGACCCCGTCCTCT	0.697													---	38	---	---	35	---					
RYR1	6261	broad.mit.edu	37	19	38948159	38948160	+	Frame_Shift_Del	DEL	TG	-	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:38948159_38948160delTG	uc002oit.3	+	16	1944_1945	c.1814_1815delTG	c.(1813-1815)ctgfs	p.L605fs	RYR1_uc002oiu.3_Frame_Shift_Del_p.L605fs	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	605	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTATGCTCCCTGTGTGTGTGTA	0.530													---	719	---	---	7	---					
ZNF347	84671	broad.mit.edu	37	19	53645627	53645627	+	Frame_Shift_Del	DEL	A	-	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr19:53645627delA	uc002qbc.2	-	4	884	c.457delT	c.(457-459)tacfs	p.Y153fs	ZNF347_uc002qbb.2_Frame_Shift_Del_p.Y152fs|ZNF347_uc010eql.2_Frame_Shift_Del_p.Y153fs	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		ACTCCTTTGTAATTTCCTTCA	0.403													---	118	---	---	178	---					
MYT1	4661	broad.mit.edu	37	20	62839333	62839335	+	In_Frame_Del	DEL	GAG	-	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr20:62839333_62839335delGAG	uc002yii.3	+	6	1148_1150	c.784_786delGAG	c.(784-786)gagdel	p.E273del	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	273	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E273D(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					agaggaggacgaggaggaggagg	0.596													---	39	---	---	7	---					
IFNGR2	3460	broad.mit.edu	37	21	34799292	34799292	+	Frame_Shift_Del	DEL	T	-	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr21:34799292delT	uc002yrp.4	+	3	1162	c.514delT	c.(514-516)tttfs	p.F172fs		NM_005534	NP_005525	P38484	INGR2_HUMAN	Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA.	172	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458													---	444	---	---	8	---					
MKL1	57591	broad.mit.edu	37	22	40816887	40816889	+	In_Frame_Del	DEL	TGC	-	-			TCGA-EE-A180-06A-11D-A21A-08	TCGA-EE-A180-10B-01D-A21A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	285dc796-67eb-432e-93e3-e2e3de2ae9b2	d81f1024-ee10-4a21-90b5-10184cbabb63	g.chr22:40816887_40816889delTGC	uc003ayv.1	-	6	1050_1052	c.843_845delGCA	c.(841-846)cagcac>cac	p.Q281del	MKL1_uc010gyf.1_In_Frame_Del_p.Q231del|MKL1_uc003ayw.1_In_Frame_Del_p.Q281del|MKL1_uc010gye.1_In_Frame_Del_p.Q281del	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	281	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GTAGTTGTGGTGCTGCTGCTGCT	0.660			T	RBM15	acute megakaryocytic leukemia								---	176	---	---	7	---					
