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
C15orf2	23742	broad.mit.edu	37	15	24922033	24922033	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:24922033C>T	uc001ywo.3	+	0	1493	c.1019C>T	c.(1018-1020)cCt>cTt	p.P340L		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	340	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis			p.P339L(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCGCTGCCCCCTTCACTGCCA	0.587000														24			17		0	0	0.006122	0	0
PIKFYVE	200576	broad.mit.edu	37	2	209180074	209180074	+	Missense_Mutation	SNP	C	T	T	rs149384342		TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:209180074C>T	uc002vcz.3	+	14	2142	c.1984C>T	c.(1984-1986)Cgt>Tgt	p.R662C	PIKFYVE_uc010fun.1_Missense_Mutation_p.R343C|PIKFYVE_uc002vcy.1_Missense_Mutation_p.R606C	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	662					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CATGGATATCCGTCAGTTTGT	0.423000														11			12		0	0	0.001368	0	0
MYO18A	399687	broad.mit.edu	37	17	27437631	27437631	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:27437631G>A	uc002hdt.1	-	17	3068	c.2910C>T	c.(2908-2910)atC>atT	p.I970I	MYO18A_uc010wbc.1_Silent_p.I512I|MYO18A_uc002hds.2_Silent_p.I512I|MYO18A_uc010csa.1_Silent_p.I970I|MYO18A_uc002hdu.1_Silent_p.I970I|MYO18A_uc010wbd.1_Silent_p.I639I	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	970	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)			ACAGGTTGCTGATGATTTTTC	0.637000														8			11		0	0	0.000978	0	0
ZAN	7455	broad.mit.edu	37	7	100392822	100392822	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:100392822C>T	uc003uwj.3	+	45	8292	c.8127C>T	c.(8125-8127)agC>agT	p.S2709S	ZAN_uc003uwk.3_Silent_p.S2618S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.S658S	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2710	EGF-like.|VWFC 5.				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)			TTGCAGAAAGCCCGTGTCTGC	0.647000														14			4		0	0	0.000248	0	0
PROC	5624	broad.mit.edu	37	2	128186241	128186241	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:128186241C>T	uc002tol.3	+	8	1195	c.1168C>T	c.(1168-1170)Ccg>Tcg	p.P390S	PROC_uc002tok.3_Missense_Mutation_p.P369S|PROC_uc010yzi.2_Missense_Mutation_p.P425S|PROC_uc010yzj.2_Missense_Mutation_p.P264S|PROC_uc010yzk.2_Missense_Mutation_p.P424S	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	369	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	Golgi lumen|endoplasmic reticulum lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	TCCCGTGGTCCCGCACAATGA	0.612000														94			37		0	0	0.004289	0	0
AIM1	202	broad.mit.edu	37	6	106968006	106968006	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:106968006A>T	uc003prh.3	+	1	2611	c.1699A>T	c.(1699-1701)Atc>Ttc	p.I567F		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	567							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CTCCCAGGTCATCCCAGAGAG	0.547000														2			26		0	0	0.003954	0	0
DNAJC5B	85479	broad.mit.edu	37	8	66963846	66963846	+	Missense_Mutation	SNP	G	A	A	rs141686243		TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:66963846G>A	uc003xvs.1	+	2	355	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA.	22	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding	p.E22K(4)		endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AGCTCTATACGAAATTCTTGG	0.398000														19			34		0	0	0.002445	0	0
FGF23	8074	broad.mit.edu	37	12	4479941	4479941	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:4479941G>A	uc001qmq.1	-	2	470	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_020638	NP_065689	Q9GZV9	FGF23_HUMAN	Homo sapiens fibroblast growth factor 23 (FGF23), mRNA.	108					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	p.F108F(2)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TCTCCGGGTCGAAATAGTGCT	0.617000														59			52		0	0	0.003610	0	0
RHEB	6009	broad.mit.edu	37	7	151216560	151216561	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:151216560_151216561CC>TT	uc003wkh.1	-	0	450_451	c.37_38GG>AA	c.(37-39)ggc>AAc	p.G13N		NM_005614	NP_005605	Q15382	RHEB_HUMAN	Homo sapiens Ras homolog enriched in brain (RHEB), mRNA.	13					cell cycle arrest|insulin receptor signaling pathway|positive regulation of TOR signaling cascade|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|metal ion binding|protein binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)	14			OV - Ovarian serous cystadenocarcinoma(82;0.00306)	UCEC - Uterine corpus endometrioid carcinoma (81;0.174)		AGACCGGTAGCCCAGGATCGCG	0.738000														6			8		0	0	0.004672	0	0
TCP10	6953	broad.mit.edu	37	6	167786682	167786682	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:167786682G>A	uc003qvv.1	-	7	1168	c.956C>T	c.(955-957)cCc>cTc	p.P319L	TCP10_uc003qvu.3_Intron	NM_004610	NP_004601	Q12799	TCP10_HUMAN	Homo sapiens t-complex 10 homolog (mouse) (TCP10), mRNA.	346						cytosol		p.P319P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CTGTCTGGAGGGAGCGGCGTG	0.537000														26			23		0	0	0.003954	0	0
ZNF441	126068	broad.mit.edu	37	19	11891143	11891143	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:11891143C>T	uc010dyj.3	+	3	698	c.504C>T	c.(502-504)ctC>ctT	p.L168L	ZNF441_uc002msn.4_Silent_p.L124L	NM_152355	NP_689568	Q8N8Z8	ZN441_HUMAN	Homo sapiens zinc finger protein 441 (ZNF441), mRNA.	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GAAAGAAACTCTATGATTGTA	0.413000														35			16		0	0	0.004990	0	0
EXOSC10	5394	broad.mit.edu	37	1	11129707	11129707	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:11129707G>A	uc001asa.3	-	21	2447	c.2397C>T	c.(2395-2397)ctC>ctT	p.L799L	EXOSC10_uc001asb.3_Silent_p.L774L	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA.	799					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|RNA binding|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		TGGAAATTTTGAGTCGTTTCT	0.468000														412			147		0	0	0.003610	0	0
HECTD3	79654	broad.mit.edu	37	1	45470324	45470324	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:45470324G>A	uc009vxk.3	-	15	2188	c.2090C>T	c.(2089-2091)tCt>tTt	p.S697F	HECTD3_uc001cmx.4_Missense_Mutation_p.S46F|HECTD3_uc001cmy.4_Missense_Mutation_p.S307F|HECTD3_uc010olh.2_Missense_Mutation_p.S413F	NM_024602	NP_078878	Q5T447	HECD3_HUMAN	Homo sapiens HECT domain containing 3 (HECTD3), mRNA.	697	HECT.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GATGAAACGAGAACGGTCCCC	0.562000														29			39		0	0	0.008740	0	0
NEUROD4	58158	broad.mit.edu	37	12	55421210	55421210	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:55421210C>T	uc001sgp.4	+	1	1365	c.987C>T	c.(985-987)ttC>ttT	p.F329F	NEUROD4_uc021qyr.1_Silent_p.F329F	NM_021191	NP_067014	Q9HD90	NDF4_HUMAN	Homo sapiens neurogenic differentiation 4 (NEUROD4), mRNA.	329					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						ATACAGTCTTCACTGAGTGAG	0.428000														178			79		0	0	0.003610	0	0
SPTBN4	57731	broad.mit.edu	37	19	41063226	41063226	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:41063226C>T	uc002ony.3	+	25	5673	c.5587C>T	c.(5587-5589)Ccg>Tcg	p.P1863S	SPTBN4_uc002onx.3_Missense_Mutation_p.P1863S|SPTBN4_uc002onz.3_Missense_Mutation_p.P1863S|SPTBN4_uc010egx.3_Missense_Mutation_p.P606S|SPTBN4_uc002ooa.3_Missense_Mutation_p.P539S	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1863					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	PML body|cytosol|nuclear matrix|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCTGACCACCCCGCCTGAGCC	0.662000														28			30		0	0	0.002445	0	0
SLC5A7	60482	broad.mit.edu	37	2	108609495	108609495	+	Silent	SNP	A	G	G			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:108609495A>G	uc002tdv.3	+	3	636	c.360A>G	c.(358-360)caA>caG	p.Q120Q	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Silent_p.Q120Q|SLC5A7_uc010ywn.2_Silent_p.Q7Q	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	120					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CGTTTCAGCAAATCTATGGAA	0.443000														49			24		0	0	0.003330	0	0
FAM214B	80256	broad.mit.edu	37	9	35105312	35105312	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:35105312G>A	uc003zwl.3	-	8	1848	c.1523C>T	c.(1522-1524)tCc>tTc	p.S508F	STOML2_uc003zwi.3_5'Flank|STOML2_uc011lou.2_5'Flank|FAM214B_uc003zwm.3_Missense_Mutation_p.S508F|FAM214B_uc003zwn.3_Missense_Mutation_p.S203F|FAM214B_uc003zwo.3_Missense_Mutation_p.S508F	NM_025182	NP_079458	Q7L5A3	K1539_HUMAN	Homo sapiens family with sequence similarity 214, member B (FAM214B), mRNA.	508						nucleus											GCTCCGGCGGGAAAAAAGCAG	0.582000														14			14		0	0	0.002450	0	0
ABCB8	11194	broad.mit.edu	37	7	150737981	150737981	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:150737981C>T	uc003wil.4	+	12	1599	c.1506C>T	c.(1504-1506)atC>atT	p.I502I	ABCB8_uc010lpw.1_Missense_Mutation_p.R378C|ABCB8_uc010lpx.3_Silent_p.I485I|ABCB8_uc011kvd.2_Silent_p.I397I|ABCB8_uc003wim.4_Silent_p.I280I|ABCB8_uc003wik.4_Silent_p.I485I	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 8 (ABCB8), nuclear gene encoding mitochondrial protein, mRNA.	502	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGCAAGATCGTGGCCCTCG	0.657000														4			4		0	0	0.001168	0	0
INTS2	57508	broad.mit.edu	37	17	60003782	60003783	+	Missense_Mutation	DNP	GA	AC	AC			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:60003782_60003783GA>AC	uc002izn.3	-	1	323_324	c.247_248TC>GT	c.(247-249)tcc>GTc	p.S83V	INTS2_uc002izm.3_Missense_Mutation_p.S75V	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	83					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TGCAACAATGGAGTTGACAGCT	0.450000														61			38		0	0	0.004672	0	0
HMCN1	83872	broad.mit.edu	37	1	186120332	186120332	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:186120332G>A	uc001grq.1	+	94	14838	c.14609_splice	c.e94-1	p.G4870_splice	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Splice_Site_p.G439_splice	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4870					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCCCAATAGGTGGGCCCCAG	0.393000														57			75		0	0	0.003610	0	0
MED14	9282	broad.mit.edu	37	X	40534569	40534569	+	Silent	SNP	T	C	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:40534569T>C	uc004dex.4	-	21	3065	c.2925A>G	c.(2923-2925)agA>agG	p.R975R		NM_004229	NP_004220	O60244	MED14_HUMAN	Homo sapiens mediator complex subunit 14 (MED14), mRNA.	975					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTACAGACCTTCTTCGAGCAT	0.388000														30			26		0	0	0.004656	0	0
PLEKHG3	26030	broad.mit.edu	37	14	65210189	65210190	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr14:65210189_65210190GG>AA	uc001xhp.2	+	16	3830_3831	c.3791_3792GG>AA	c.(3790-3792)cgg>cAA	p.R1264Q	PLEKHG3_uc001xhn.1_Missense_Mutation_p.R1087Q|PLEKHG3_uc001xho.1_Missense_Mutation_p.R1143Q|PLEKHG3_uc010aqh.1_Missense_Mutation_p.R685Q|PLEKHG3_uc001xhq.1_Missense_Mutation_p.R648Q	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	1143					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GACAACCGGCGGGTGATTGTCA	0.668000														15			28		0	0	0.004672	0	0
CLSTN2	64084	broad.mit.edu	37	3	140185541	140185541	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:140185541C>T	uc003etn.3	+	7	1502	c.1312C>T	c.(1312-1314)Cgc>Tgc	p.R438C	CLSTN2_uc003etm.2_Missense_Mutation_p.R438C	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	438					homophilic cell adhesion	Golgi membrane|endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGACACCTTTCGCCCCGCGGA	0.567000										HNSCC(16;0.037)				37			27		0	0	0.005443	0	0
SPEG	10290	broad.mit.edu	37	2	220346119	220346120	+	Silent	DNP	CC	TT	TT			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:220346119_220346120CC>TT	uc010fwg.3	+	26	5463_5464	c.5463_5464CC>TT	c.(5461-5466)ttcctg>ttTTtg	p.1821_1822FL>FL		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1821	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AGACCACATTCCTGAGCCTGAG	0.584000														37			12		0	0	0.004672	0	0
ATP1A3	478	broad.mit.edu	37	19	42480654	42480654	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:42480654C>T	uc002osh.3	-	14	2162	c.2008G>A	c.(2008-2010)Gag>Aag	p.E670K	ATP1A3_uc010xwf.2_Missense_Mutation_p.E681K|ATP1A3_uc010xwg.2_Missense_Mutation_p.E640K|ATP1A3_uc002osg.3_Missense_Mutation_p.E670K|ATP1A3_uc010xwh.2_Missense_Mutation_p.E683K			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	670					ATP biosynthetic process	Golgi apparatus|endoplasmic reticulum	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.D669N(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TGCAGGATCTCGTCGATTTGC	0.607000														37			15		0	0	0.003163	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94855338	94855338	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:94855338G>A	uc003unp.3	+	6	2238	c.1956G>A	c.(1954-1956)atG>atA	p.M652I	PPP1R9A_uc010lfj.3_Missense_Mutation_p.M674I|PPP1R9A_uc011kif.2_Missense_Mutation_p.M652I|PPP1R9A_uc003unq.3_Missense_Mutation_p.M652I|PPP1R9A_uc011kig.2_Missense_Mutation_p.M652I	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	652	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GCAGCGACATGGCCATTGAAG	0.483000										HNSCC(28;0.073)				37			31		0	0	0.001786	0	0
WDR90	197335	broad.mit.edu	37	16	717536	717536	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:717536C>T	uc002cii.1	+	40	5248	c.5194C>T	c.(5194-5196)Ctc>Ttc	p.L1732F	WDR90_uc002cij.1_Non-coding_Transcript|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cin.1_Missense_Mutation_p.L347F|WDR90_uc002cio.1_Missense_Mutation_p.L331F|WDR90_uc010bqx.1_Missense_Mutation_p.L283F|RHOT2_uc010uum.2_5'Flank|RHOT2_uc002cip.3_5'Flank|RHOT2_uc002ciq.3_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1732										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CGCCAGGCTGCTCTTCACGGC	0.637000														9			30		0	0	0.001786	0	0
CNOT6	57472	broad.mit.edu	37	5	179996226	179996226	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:179996226G>A	uc003mlx.3	+	9	1493	c.1144G>A	c.(1144-1146)Gaa>Aaa	p.E382K	CNOT6_uc010jld.3_Missense_Mutation_p.E382K|CNOT6_uc010jle.3_Missense_Mutation_p.E377K	NM_015455	NP_056270	Q9ULM6	CNOT6_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6 (CNOT6), mRNA.	382					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	RNA binding|exonuclease activity|metal ion binding|protein binding	p.S381*(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		GTTCCTCTCAGAAGTGAAGAA	0.398000														27			89		0	0	0.003610	0	0
TTN	7273	broad.mit.edu	37	2	179457349	179457349	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:179457349C>T	uc021vsy.1	-	249	51904	c.51679G>A	c.(51679-51681)Gaa>Aaa	p.E17227K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E10922K|TTN_uc021vta.1_Missense_Mutation_p.E10855K|TTN_uc021vtb.1_Missense_Mutation_p.E10730K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18154	Fibronectin type-III 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTGTTGTTCTCTTGCCATG	0.383000														71			21		0	0	0.001882	0	0
SNRK	54861	broad.mit.edu	37	3	43381975	43381975	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:43381975C>T	uc003cms.4	+	4	1260	c.928C>T	c.(928-930)Cga>Tga	p.R310*	SNRK_uc003cmt.4_Nonsense_Mutation_p.R310*|SNRK_uc010hik.3_Nonsense_Mutation_p.R310*|SNRK_uc011azr.2_Nonsense_Mutation_p.R104*	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.	310	UBA.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		CATAGCGGATCGAGACGCCAT	0.483000														30			18		0	0	0.004990	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156909447	156909448	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:156909447_156909448GG>AA	uc001fqo.3	-	35	4908_4909	c.3868_3869CC>TT	c.(3868-3870)cca>TTa	p.P1290L	ARHGEF11_uc010phu.2_Missense_Mutation_p.P706L|ARHGEF11_uc001fqn.3_Missense_Mutation_p.P1330L	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	1290					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)					TCTGGTCCTTGGGGGTAGGTGT	0.564000														38			204		0	0	0.004672	0	0
TRPV6	55503	broad.mit.edu	37	7	142572287	142572287	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:142572287C>T	uc003wbx.2	-	10	1638	c.1409G>A	c.(1408-1410)cGa>cAa	p.R470Q	TRPV6_uc003wbw.1_Missense_Mutation_p.R256Q|TRPV6_uc010lou.1_Missense_Mutation_p.R341Q	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	470					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTGGAATCCTCGGGCGAAGTA	0.592000														68			52		0	0	0.003610	0	0
MCF2L2	23101	broad.mit.edu	37	3	182933875	182933876	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:182933875_182933876GG>AA	uc003fli.1	-	21	2467_2468	c.2377_2378CC>TT	c.(2377-2379)cca>TTa	p.P793L		NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	793	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGTTCTCTTTGGCCCATCCTGT	0.446000														47			29		0	0	0.004672	0	0
CNST	163882	broad.mit.edu	37	1	246797225	246797225	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:246797225G>A	uc001ibp.3	+	5	995	c.617_splice	c.e5-1	p.Y206_splice	CNST_uc001ibo.4_Splice_Site_p.Y206_splice	NM_152609	NP_689822	Q6PJW8	CNST_HUMAN	Homo sapiens consortin, connexin sorting protein (CNST), transcript variant 1, mRNA.	206					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						GTTCTATTCAGATGAGAAAGC	0.348000														96			29		0	0	0.008361	0	0
NLRP2	55655	broad.mit.edu	37	19	55493636	55493636	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:55493636G>A	uc021vbq.1	+	5	681	c.570G>A	c.(568-570)aaG>aaA	p.K190K	NLRP2_uc010yfp.2_Silent_p.K167K|NLRP2_uc002qij.3_Silent_p.K190K|NLRP2_uc010esp.3_Silent_p.K168K|NLRP2_uc010esn.3_Silent_p.K166K|NLRP2_uc010eso.3_Silent_p.K187K	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	190					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGAGATACAAGATGCTGATCC	0.542000														119			42		0	0	0.003214	0	0
ADCY10	55811	broad.mit.edu	37	1	167778983	167778983	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:167778983C>T	uc001ger.3	-	32	5063	c.4765G>A	c.(4765-4767)Gta>Ata	p.V1589I	ADCY10_uc009wvj.3_Non-coding_Transcript|ADCY10_uc010plj.2_Missense_Mutation_p.V1436I|ADCY10_uc009wvk.3_Missense_Mutation_p.V1497I	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1589					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	ATP binding|adenylate cyclase activity|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TGAATGTTTACCCTGCCTGCT	0.378000														69			190		0	0	0.003610	0	0
TMEM2	23670	broad.mit.edu	37	9	74355074	74355074	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:74355074T>C	uc011lsa.1	-	4	1649	c.1109A>G	c.(1108-1110)aAt>aGt	p.N370S	TMEM2_uc010mos.2_Missense_Mutation_p.N370S|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	370						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ACTGCTATGATTTTCATAGTT	0.438000														22			19		0	0	0.008871	0	0
PRDM9	56979	broad.mit.edu	37	5	23526583	23526583	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:23526583C>T	uc003jgo.3	+	10	1568	c.1386C>T	c.(1384-1386)ctC>ctT	p.L462L		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	462					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.K461N(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGTCCAAACTCTTGAATAAAA	0.463000										HNSCC(3;0.000094)				16			8		0	0	0.004482	0	0
CNTN2	6900	broad.mit.edu	37	1	205041102	205041102	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:205041102G>A	uc001hbr.3	+	19	2841	c.2572G>A	c.(2572-2574)Gaa>Aaa	p.E858K	CNTN2_uc001hbq.1_Missense_Mutation_p.E749K|CNTN2_uc001hbs.3_Missense_Mutation_p.E646K	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	858	Fibronectin type-III 3.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TGGGGACAAAGAAGCAGCTGC	0.627000														24			20		0	0	0.001882	0	0
BRWD3	254065	broad.mit.edu	37	X	79947403	79947403	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:79947403G>A	uc004edt.3	-	29	3663	c.3400C>T	c.(3400-3402)Cag>Tag	p.Q1134*	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Nonsense_Mutation_p.Q963*|BRWD3_uc004edq.3_Nonsense_Mutation_p.Q730*|BRWD3_uc010nmj.2_Nonsense_Mutation_p.Q730*|BRWD3_uc004edr.3_Nonsense_Mutation_p.Q804*|BRWD3_uc004eds.3_Nonsense_Mutation_p.Q730*|BRWD3_uc004edo.3_Nonsense_Mutation_p.Q730*|BRWD3_uc004edu.3_Nonsense_Mutation_p.Q804*|BRWD3_uc004edv.3_Nonsense_Mutation_p.Q730*|BRWD3_uc004edw.3_Nonsense_Mutation_p.Q730*|BRWD3_uc004edx.3_Nonsense_Mutation_p.Q730*|BRWD3_uc004edy.3_Nonsense_Mutation_p.Q730*|BRWD3_uc004edz.3_Nonsense_Mutation_p.Q804*|BRWD3_uc004eea.3_Nonsense_Mutation_p.Q804*|BRWD3_uc004eeb.3_Nonsense_Mutation_p.Q730*	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1134										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TCTCCTTCCTGGGGTTTGTAT	0.443000														18			28		0	0	0.005443	0	0
TRIM23	373	broad.mit.edu	37	5	64914040	64914040	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:64914040C>T	uc003jty.3	-	1	210	c.124G>A	c.(124-126)Gga>Aga	p.G42R	TRIM23_uc003jtw.3_Missense_Mutation_p.G42R|TRIM23_uc003jtx.3_Missense_Mutation_p.G42R	NM_001656	NP_001647	P36406	TRI23_HUMAN	Homo sapiens tripartite motif containing 23 (TRIM23), transcript variant alpha, mRNA.	42					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	GDP binding|GTP binding|GTPase activity|enzyme activator activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ACTTTGTCTCCTTGCAAAGAA	0.408000														15			48		0	0	0.003610	0	0
KRT1	3848	broad.mit.edu	37	12	53071150	53071150	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:53071150C>T	uc001sau.1	-	4	1137	c.1078G>A	c.(1078-1080)Gat>Aat	p.D360N	KRT1_uc001sav.1_Missense_Mutation_p.D360N	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	360	Coil 2.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						TGGGCTATATCCTCGTACTGG	0.512000														34			13		0	0	0.002450	0	0
CPD	1362	broad.mit.edu	37	17	28749859	28749859	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:28749859C>T	uc002hfb.2	+	4	1532	c.1475C>T	c.(1474-1476)tCc>tTc	p.S492F	CPD_uc010wbo.2_Missense_Mutation_p.S245F|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	492	Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						ACATCATCCTCCTACCAGCCA	0.438000														71			45		0	0	0.003610	0	0
SSH1	54434	broad.mit.edu	37	12	109201430	109201430	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:109201430G>A	uc001tnm.3	-	7	797	c.710C>T	c.(709-711)tCc>tTc	p.S237F	SSH1_uc001tnl.3_5'Flank|SSH1_uc010sxg.2_Missense_Mutation_p.S248F|SSH1_uc001tnn.4_Missense_Mutation_p.S237F|SSH1_uc001tno.1_Missense_Mutation_p.S141F	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	237					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TAGCGCGGGGGAGTCGGGCCG	0.627000														30			40		0	0	0.002522	0	0
EPB41L2	2037	broad.mit.edu	37	6	131190968	131190968	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:131190968G>A	uc003qch.2	-	14	2524	c.2342C>T	c.(2341-2343)cCc>cTc	p.P781L	EPB41L2_uc003qce.1_Missense_Mutation_p.P159L|EPB41L2_uc003qcf.1_Intron|EPB41L2_uc010kfl.2_Missense_Mutation_p.P711L|EPB41L2_uc003qcg.1_Intron|EPB41L2_uc003qci.3_Missense_Mutation_p.P711L|EPB41L2_uc011eby.2_Intron|EPB41L2_uc010kfk.2_Intron|EPB41L2_uc003qcd.1_5'Flank|EPB41L2_uc003qcj.1_Missense_Mutation_p.P178L	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	781					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TGCCGGGCGGGGTTCTTCCTC	0.582000														10			70		0	0	0.003610	0	0
TRPV6	55503	broad.mit.edu	37	7	142571386	142571386	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:142571386C>T	uc003wbx.2	-	12	1832	c.1603G>A	c.(1603-1605)Gag>Aag	p.E535K	TRPV6_uc003wbw.1_Missense_Mutation_p.E321K|TRPV6_uc010lou.1_Missense_Mutation_p.E406K	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	535					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					AGGAACAGCTCGAAGGTGCTG	0.557000														128			81		0	0	0.003610	0	0
BAG5	9529	broad.mit.edu	37	14	104026188	104026188	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr14:104026188G>A	uc021seg.1	-	0	1314	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L	BAG5_uc001yni.2_Silent_p.L438L|BAG5_uc001ynh.2_Silent_p.L479L|BAG5_uc001ynj.2_Silent_p.L438L	NM_004873	NP_004864	Q9UL15	BAG5_HUMAN	Homo sapiens BCL2-associated athanogene 5 (BAG5), transcript variant 2, mRNA.	438	BAG 5.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			ATTTCAGGTCGAGATAGCTGA	0.453000														88			30		0	0	0.002096	0	0
EMR3	84658	broad.mit.edu	37	19	14740969	14740969	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:14740969C>T	uc002mzi.4	-	13	1842	c.1694G>A	c.(1693-1695)tGg>tAg	p.W565*	EMR3_uc010dzp.3_Nonsense_Mutation_p.W513*|EMR3_uc010xnv.2_Nonsense_Mutation_p.W439*	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.	565					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding	p.T564S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GCCCAGACACCATGTGCAGCC	0.507000														28			16		0	0	0.001523	0	0
ARMC4	55130	broad.mit.edu	37	10	28284008	28284008	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:28284008C>T	uc009xky.3	-	1	162	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	ARMC4_uc001itz.3_Missense_Mutation_p.E22K	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	22							binding	p.E22K(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						GGGGTGATTTCGAGGATTCCA	0.453000														22			11		0	0	0.008291	0	0
RPA4	29935	broad.mit.edu	37	X	96140065	96140065	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:96140065G>A	uc004efv.4	+	0	1159	c.756G>A	c.(754-756)gtG>gtA	p.V252V	DIAPH2_uc004eft.4_Intron|DIAPH2_uc004efu.4_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	Homo sapiens replication protein A4, 30kDa (RPA4), mRNA.	252					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						ATCCCACTGTGGATCGGGAGC	0.498000								Other identified genes with known or suspected DNA repair function						60			47		0	0	0.003610	0	0
ALDH2	217	broad.mit.edu	37	12	112237856	112237856	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:112237856G>A	uc001tst.3	+	10	1491	c.1395G>A	c.(1393-1395)gcG>gcA	p.A465A	ALDH2_uc010syi.2_Silent_p.A418A	NM_000690	NP_000681	P05091	ALDH2_HUMAN	Homo sapiens aldehyde dehydrogenase 2 family (mitochondrial) (ALDH2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	465					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	CCCTCCAGGCGGGCACTGTGT	0.567000			T	HMGA2	leiomyoma									8			7		0	0	0.001984	0	0
NEB	4703	broad.mit.edu	37	2	152348943	152348944	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:152348943_152348944GG>AA	uc021vrb.1	-	142	19291_19292	c.19262_19263CC>TT	c.(19261-19263)ccc>cTT	p.P6421L	NEB_uc002txr.3_Missense_Mutation_p.P2794L|NEB_uc002txu.3_Missense_Mutation_p.P8277L|NEB_uc021vrc.1_Missense_Mutation_p.P8277L|NEB_uc010fnx.3_Missense_Mutation_p.P6409L|NEB_uc021vrd.1_Missense_Mutation_p.P6421L|RIF1_uc002txp.3_Intron|NEB_uc010zbz.2_Missense_Mutation_p.P190L|NEB_uc002txq.3_Missense_Mutation_p.P300L|NEB_uc010zca.2_Missense_Mutation_p.P252L|NEB_uc010zcb.2_Missense_Mutation_p.P190L	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	6421					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	Z disc|actin cytoskeleton|cytosol	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTCTCATCTCGGGGGTATCCAA	0.485000														28			17		0	0	0.004672	0	0
RPRD2	23248	broad.mit.edu	37	1	150443078	150443078	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:150443078C>T	uc009wlr.3	+	10	1855	c.1654C>T	c.(1654-1656)Cca>Tca	p.P552S	RPRD2_uc010pcc.1_Missense_Mutation_p.P526S|RPRD2_uc001eup.4_Missense_Mutation_p.P526S	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	552	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GAACCCAGTTCCAGCCAGTGA	0.478000														124			30		0	0	0.001786	0	0
OR1M1	125963	broad.mit.edu	37	19	9204125	9204125	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:9204125G>A	uc010xkj.2	+	0	205	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily M, member 1 (OR1M1), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V69I(4)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGTCCCTGGTTGATTTCTG	0.557000														30			4		0	0	0.000602	0	0
GLRA1	2741	broad.mit.edu	37	5	151239346	151239346	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:151239346C>T	uc003lut.3	-	4	763	c.476_splice	c.e4+1	p.R159_splice	GLRA1_uc003lur.3_Splice_Site_p.R159_splice|GLRA1_uc003lus.3_Splice_Site_p.R76_splice	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	159					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	p.R159K(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAGAACTCACCTGATGCTGTA	0.517000														24			8		0	0	0.006214	0	0
H6PD	9563	broad.mit.edu	37	1	9307129	9307129	+	Silent	SNP	C	T	T	rs118005430	byFrequency	TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:9307129C>T	uc001apt.3	+	2	1005	c.732C>T	c.(730-732)acC>acT	p.T244T		NM_004285	NP_004276	O95479	G6PE_HUMAN	Homo sapiens hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) (H6PD), mRNA.	244	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|NADP binding|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	TGAAAGAGACCGTGGATGCTG	0.637000														25			33		0	0	0.002445	0	0
FBXO38	81545	broad.mit.edu	37	5	147781989	147781989	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:147781989C>T	uc003lpf.1	+	4	625	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	FBXO38_uc003lpg.1_Missense_Mutation_p.R169C|FBXO38_uc003lph.2_Missense_Mutation_p.R169C	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	169						cytoplasm|nucleus		p.R169H(1)	ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGAAATTTCGTAATCGTAA	0.353000														29			37		0	0	0.004878	0	0
TLR9	54106	broad.mit.edu	37	3	52256090	52256090	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:52256090G>A	uc003ddb.3	-	4	2743	c.2533C>T	c.(2533-2535)Ctg>Ttg	p.L845L	TLR9_uc003dda.2_Silent_p.L748L	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	748					I-kappaB phosphorylation|defense response to bacterium|fibroblast growth factor receptor signaling pathway|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GCACTCGCCAGGGGCCCAAAC	0.617000														70			37		0	0	0.006999	0	0
DHX37	57647	broad.mit.edu	37	12	125457055	125457055	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:125457055G>A	uc001ugy.3	-	6	1170	c.1071C>T	c.(1069-1071)atC>atT	p.I357I		NM_032656	NP_116045	Q8IY37	DHX37_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 37 (DHX37), mRNA.	357	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		CAACCTTCTGGATTTCTTTAA	0.552000														42			39		0	0	0.002852	0	0
TMEM202	338949	broad.mit.edu	37	15	72700110	72700110	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:72700110G>T	uc002auq.3	+	4	698	c.698G>T	c.(697-699)aGa>aTa	p.R233I	TMEM202_uc002aur.3_Non-coding_Transcript	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	Homo sapiens transmembrane protein 202 (TMEM202), mRNA.	233						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						CCAACAGAGAGATCAAGGCTG	0.453000														41			17		3.32936e-07	4.85807e-07	0.006122	1	0
FJX1	24147	broad.mit.edu	37	11	35640989	35640989	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:35640989C>T	uc001mwh.3	+	0	1255	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W		NM_014344	NP_055159	Q86VR8	FJX1_HUMAN	Homo sapiens four jointed box 1 (Drosophila) (FJX1), mRNA.	269						extracellular space				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				GCGCCCCCTCCGGGATGCCGG	0.672000														9			12		0	0	0.002450	0	0
ANXA7	310	broad.mit.edu	37	10	75158049	75158049	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:75158049G>A	uc001jtz.2	-	2	222	c.149C>T	c.(148-150)cCa>cTa	p.P50L	ANXA7_uc001jua.2_Missense_Mutation_p.P50L|ANXA7_uc010qki.1_Missense_Mutation_p.P10L|ANXA7_uc009xre.3_Intron|ANXA7_uc009xrf.1_Missense_Mutation_p.P50L	NM_004034	NP_004025	P20073	ANXA7_HUMAN	Homo sapiens annexin A7 (ANXA7), transcript variant 2, mRNA.	50	Repeat-rich region.						calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					GCCACTACTTGGCACTTGTGG	0.592000														9			11		0	0	0.001368	0	0
THSD7B	80731	broad.mit.edu	37	2	138169234	138169234	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:138169234G>C	uc002tva.1	+	12	2658	c.2658G>C	c.(2656-2658)gaG>gaC	p.E886D	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.E776D	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CTCTAGTGGAGACAGAACTAT	0.433000														61			23		0	0	0.002299	0	0
FBN2	2201	broad.mit.edu	37	5	127863631	127863631	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:127863631C>T	uc003kuu.3	-	3	905	c.466G>A	c.(466-468)Ggt>Agt	p.G156S	FBN2_uc003kuv.2_Missense_Mutation_p.G123S|FBN2_uc003kuw.4_Missense_Mutation_p.G156S	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	156	EGF-like 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAGGTCCCACCATTCATGCAT	0.368000														35			19		0	0	0.001523	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349041	103349042	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:103349041_103349042GG>AA	uc022cbz.1	-	0	899_900	c.899_900CC>TT	c.(898-900)tcc>tTT	p.S300F	SLC25A53_uc004elu.3_Missense_Mutation_p.S300F	NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN	Homo sapiens mitochondrial carrier triple repeat 6 (MCART6), nuclear gene encoding mitochondrial protein, mRNA.	300					transport	integral to membrane|mitochondrial inner membrane											GCTCTTTCCTGGAGTGCGACTT	0.500000														39			34		0	0	0.004672	0	0
GIGYF2	26058	broad.mit.edu	37	2	233660923	233660923	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:233660923A>C	uc002vtj.4	+	15	1961	c.1694A>C	c.(1693-1695)gAa>gCa	p.E565A	GIGYF2_uc010zmj.1_Missense_Mutation_p.E544A|GIGYF2_uc002vtg.2_Missense_Mutation_p.E538A|GIGYF2_uc002vti.4_Missense_Mutation_p.E544A|GIGYF2_uc002vtk.4_Missense_Mutation_p.E544A|GIGYF2_uc002vth.4_Missense_Mutation_p.E538A|GIGYF2_uc010zmk.2_Non-coding_Transcript|GIGYF2_uc010zml.1_Missense_Mutation_p.E375A	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	544	GYF.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CCTCAGGGAGAAATTCAAGGC	0.378000														37			13		0	0	0.001855	0	0
B3GALT5	10317	broad.mit.edu	37	21	41033308	41033308	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr21:41033308C>T	uc021wjj.1	+	0	822	c.822C>T	c.(820-822)tcC>tcT	p.S274S	B3GALT5_uc002yyb.1_Silent_p.S274S|B3GALT5_uc002yye.2_Silent_p.S274S|B3GALT5_uc002yyi.1_Silent_p.S274S|B3GALT5_uc002yyj.1_Silent_p.S274S|B3GALT5_uc002yyk.1_Silent_p.S274S|B3GALT5_uc002yyl.1_Silent_p.S274S|B3GALT5_uc002yym.1_Silent_p.S274S	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 (B3GALT5), transcript variant 5, mRNA.	274					protein glycosylation	Golgi membrane|endoplasmic reticulum|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TACGCTTCTCCGTATGCCTCT	0.562000														45			16		0	0	0.007413	0	0
GABRG3	2567	broad.mit.edu	37	15	27572084	27572084	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:27572084C>T	uc001zbg.2	+	3	653	c.399C>T	c.(397-399)ttC>ttT	p.F133F	GABRG3_uc001zbf.3_Silent_p.F133F	NM_033223	NP_150092	Q99928	GBRG3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 3 (GABRG3), mRNA.	133					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		ACACCATCTTCCGCAATTCTA	0.468000														27			50		0	0	0.003610	0	0
CD180	4064	broad.mit.edu	37	5	66480083	66480083	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:66480083C>T	uc003juy.2	-	2	736	c.588G>A	c.(586-588)ctG>ctA	p.L196L		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	196					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TGGCCTGCTCCAGAGACCTCA	0.413000														69			19		0	0	0.006122	0	0
PGR	5241	broad.mit.edu	37	11	100909930	100909930	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:100909930C>T	uc001pgh.2	-	7	3462	c.2719G>A	c.(2719-2721)Gaa>Aaa	p.E907K	PGR_uc001pgg.2_Missense_Mutation_p.E288K|PGR_uc001pgi.2_Missense_Mutation_p.E805K|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	907	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GACATCATTTCTGGAAATTCA	0.378000														6			29		0	0	0.006320	0	0
PMEL	6490	broad.mit.edu	37	12	56355474	56355474	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:56355474C>T	uc001sir.3	-	1	782	c.119G>A	c.(118-120)aGa>aAa	p.R40K	PMEL_uc001siq.3_Missense_Mutation_p.R40K|PMEL_uc010spx.2_Intron|PMEL_uc001sip.3_Missense_Mutation_p.R40K	NM_006928	NP_008859	P40967	PMEL_HUMAN	Homo sapiens premelanosome protein (PMEL), transcript variant 3, mRNA.	40					melanin biosynthetic process|melanosome organization	Golgi apparatus|endoplasmic reticulum membrane|extracellular region|integral to membrane|melanosome|multivesicular body membrane|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGCTTTGGTTCTGAGTTGCCT	0.522000														76			27		0	0	0.007291	0	0
SERPINA7	6906	broad.mit.edu	37	X	105280705	105280705	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:105280705C>T	uc010npd.3	-	0	580	c.345G>A	c.(343-345)ctG>ctA	p.L115L	SERPINA7_uc004eme.2_Silent_p.L115L|SERPINA7_uc010npe.2_Silent_p.L115L	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	115					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GTGAACAGATCAGATGCTGGA	0.478000														77			59		0	0	0.003610	0	0
CALCOCO1	57658	broad.mit.edu	37	12	54105760	54105760	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:54105760A>C	uc001sef.3	-	14	2188	c.2044T>G	c.(2044-2046)Ttc>Gtc	p.F682V	CALCOCO1_uc001see.3_Missense_Mutation_p.F207V|CALCOCO1_uc010som.2_Missense_Mutation_p.F597V|CALCOCO1_uc010son.2_Missense_Mutation_p.F559V|CALCOCO1_uc009znd.3_Missense_Mutation_p.F681V|CALCOCO1_uc001seg.3_Missense_Mutation_p.F507V|CALCOCO1_uc001seh.2_3'UTR	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA.	682	C-terminal AD (CTNNB1 binding site) (By similarity).				Wnt receptor signaling pathway|steroid hormone receptor signaling pathway|transcription, DNA-dependent	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						TGGGTGCTGAAAAAGAAGTGT	0.507000														20			6		0	0	0.001984	0	0
KAL1	3730	broad.mit.edu	37	X	8503632	8503633	+	Splice_Site	DNP	GG	AT	AT			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:8503632_8503633GG>AT	uc004csf.3	-	12	1992	c.1842_splice	c.e12+1	p.S614_splice		NM_000216	NP_000207	P23352	KALM_HUMAN	Homo sapiens Kallmann syndrome 1 sequence (KAL1), mRNA.	614	Fibronectin type-III 4.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						TGGGACCTACGGAAGGCAGGAT	0.500000														31			10		0	0	0.004672	0	0
ZNF213	7760	broad.mit.edu	37	16	3190750	3190750	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:3190750C>G	uc010uws.2	+	5	1229	c.782C>G	c.(781-783)cCa>cGa	p.P261R	ZNF213_uc002cud.3_Non-coding_Transcript|ZNF213_uc010btf.3_3'UTR|ZNF213_uc010bth.3_Missense_Mutation_p.P261R|ZNF213_uc010uwt.2_3'UTR	NM_004220	NP_004211	O14771	ZN213_HUMAN	Homo sapiens zinc finger protein 213 (ZNF213), transcript variant 1, mRNA.	261	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						CCGGTGGTGCCAGGCCAGACA	0.667000														22			28		0	0	0.002445	0	0
RIMS4	140730	broad.mit.edu	37	20	43386399	43386399	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr20:43386399G>A	uc010ggu.3	-	3	433	c.366C>T	c.(364-366)atC>atT	p.I122I	RIMS4_uc002xms.3_Silent_p.I121I	NM_001205317	NP_001192246	Q9H426	RIMS4_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 4 (RIMS4), transcript variant 1, mRNA.	121	C2.				exocytosis|neurotransmitter transport	cell junction|synapse				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				CCTGCAGACCGATCTCCACAT	0.557000														43			39		0	0	0.006999	0	0
CSPG5	10675	broad.mit.edu	37	3	47604201	47604201	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:47604201C>T	uc003crp.4	-	4	1766	c.1590G>A	c.(1588-1590)ctG>ctA	p.L530L	CSPG5_uc003crm.3_Non-coding_Transcript|CSPG5_uc003crn.3_Silent_p.L365L|CSPG5_uc003cro.4_Silent_p.L503L|CSPG5_uc021wxh.1_Silent_p.*478*|CSPG5_uc021wxi.1_Silent_p.L365L|CSPG5_uc011bbb.2_Silent_p.L392L	NM_001206943	NP_001193872	O95196	CSPG5_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 5 (neuroglycan C) (CSPG5), transcript variant 3, mRNA.	530					cell differentiation|intracellular transport|nervous system development|regulation of growth	Golgi-associated vesicle membrane|endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CCTCCTCTTTCAGGCAGGACT	0.502000														83			67		0	0	0.003610	0	0
UBN2	254048	broad.mit.edu	37	7	138946272	138946272	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:138946272C>T	uc011kqr.2	+	5	1180	c.1180C>T	c.(1180-1182)Cag>Tag	p.Q394*	BC045656_uc022amp.1_5'Flank|UBN2_uc003vuv.3_Nonsense_Mutation_p.Q117*	NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	394										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TGAGCTGTTTCAGGAAGCTGA	0.493000														89			63		0	0	0.003610	0	0
MCOLN1	57192	broad.mit.edu	37	19	7593764	7593764	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:7593764C>T	uc002mgo.3	+	8	1183	c.1042C>T	c.(1042-1044)Ctg>Ttg	p.L348L	MCOLN1_uc002mgp.3_Silent_p.L313L	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	Homo sapiens mucolipin 1 (MCOLN1), mRNA.	348					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTGGGAGCGGCTGGAATTTGT	0.622000														9			25		0	0	0.006320	0	0
CHD7	55636	broad.mit.edu	37	8	61741297	61741297	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:61741297G>A	uc003xue.3	+	13	3946	c.3454G>A	c.(3454-3456)Gaa>Aaa	p.E1152K	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1152	Helicase ATP-binding.				T cell differentiation|central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|chromatin binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TCATTTCTTGGAACCAAGTCG	0.433000														6			14		0	0	0.002450	0	0
TMEM81	388730	broad.mit.edu	37	1	205053200	205053200	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:205053200G>A	uc001hbt.3	-	0	389	c.249C>T	c.(247-249)acC>acT	p.T83T		NM_203376	NP_976310	Q6P7N7	TMM81_HUMAN	Homo sapiens transmembrane protein 81 (TMEM81), mRNA.	83	Ig-like.					integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			AGATCCAGTTGGTCAGACATT	0.502000														49			70		0	0	0.003610	0	0
CHD1L	9557	broad.mit.edu	37	1	146759371	146759371	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:146759371C>T	uc001epm.4	+	18	2342	c.2279C>T	c.(2278-2280)gCt>gTt	p.A760V	CHD1L_uc001epn.4_Missense_Mutation_p.A647V|CHD1L_uc010ozo.2_Non-coding_Transcript|CHD1L_uc009wjg.3_Non-coding_Transcript|CHD1L_uc009wjh.3_Missense_Mutation_p.A666V|CHD1L_uc010ozp.2_Missense_Mutation_p.A479V|CHD1L_uc001epo.4_Missense_Mutation_p.A556V|CHD1L_uc009wji.3_Missense_Mutation_p.A479V	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1-like (CHD1L), transcript variant 1, mRNA.	760	Macro.				DNA repair|chromatin remodeling	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					AAGCGATCCGCTGAGCCAAGA	0.433000														217			67		0	0	0.003610	0	0
ALS2CR11	151254	broad.mit.edu	37	2	202466469	202466469	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:202466469G>A	uc002uyf.3	-	3	561	c.509C>T	c.(508-510)tCt>tTt	p.S170F	ALS2CR11_uc002uye.3_Missense_Mutation_p.S170F|ALS2CR11_uc010fti.3_Missense_Mutation_p.S170F|ALS2CR11_uc021vvc.1_Missense_Mutation_p.S170F	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	170										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TACCTGTACAGAAAAATACTT	0.299000														14			9		0	0	0.006214	0	0
ZNF436	80818	broad.mit.edu	37	1	23688758	23688758	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:23688758G>A	uc001bgt.3	-	2	1498	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	ZNF436_uc001bgu.3_Missense_Mutation_p.R373W	NM_030634	NP_085137	Q9C0F3	ZN436_HUMAN	Homo sapiens zinc finger protein 436 (ZNF436), transcript variant 2, mRNA.	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		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;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		TGAGAGCTCCGGCTGAAGCTT	0.463000														31			46		0	0	0.003610	0	0
OR7G1	125962	broad.mit.edu	37	19	9226424	9226424	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:9226424G>A	uc021uoi.1	-	0	16	c.16C>T	c.(16-18)Caa>Taa	p.Q6*	OR7G1_uc002mks.1_Nonsense_Mutation_p.Q6*	NM_001005192	NP_001005192	Q8NGA0	OR7G1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 1 (OR7G1), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						ACAGCTGTTTGGTTTCTGGGT	0.428000														40			51		0	0	0.003610	0	0
HSPBP1	23640	broad.mit.edu	37	19	55789055	55789056	+	Silent	DNP	GG	AA	AA			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:55789055_55789056GG>AA	uc002qkd.3	-	3	703_704	c.369_370CC>TT	c.(367-372)gccctg>gcTTtg	p.123_124AL>AL	HSPBP1_uc002qjx.3_Silent_p.169_170AL>AL|HSPBP1_uc002qkc.3_Silent_p.123_124AL>AL	NM_001130106	NP_036399	Q9NZL4	HPBP1_HUMAN	Homo sapiens HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 (HSPBP1), transcript variant 2, mRNA.	126					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		AGCAGCTCCAGGGCCCCCTCTC	0.663000														3			6		0	0	0.004672	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517822	158517822	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:158517822C>T	uc010pil.2	-	0	74	c.74G>A	c.(73-75)cGa>cAa	p.R25Q		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GAAGGCTGGTCGTGTTGGAAA	0.453000														71			50		0	0	0.003610	0	0
ADAMTSL3	57188	broad.mit.edu	37	15	84651197	84651197	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:84651197C>T	uc002bjz.4	+	20	3041	c.2817C>T	c.(2815-2817)ttC>ttT	p.F939F	ADAMTSL3_uc010bmt.1_Silent_p.F939F	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	939	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGCGACGATTCCAGAAATCTC	0.498000														49			24		0	0	0.003954	0	0
SLC30A9	10463	broad.mit.edu	37	4	41992694	41992694	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr4:41992694C>T	uc003gwl.3	+	0	172	c.26C>T	c.(25-27)gCg>gTg	p.A9V	SLC30A9_uc011byx.2_5'UTR	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA.	9					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GCCGCCGCCGCGGCCCACAGA	0.697000														2			26		0	0	0.003271	0	0
TAS2R7	50837	broad.mit.edu	37	12	10954813	10954813	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:10954813G>A	uc001qyv.3	-	0	414	c.357C>T	c.(355-357)ttC>ttT	p.F119F		NM_023919	NP_076408	Q9NYW3	TA2R7_HUMAN	Homo sapiens taste receptor, type 2, member 7 (TAS2R7), mRNA.	119					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						TCATCCAGAGGAAAAGTGGGT	0.418000														18			10		0	0	0.006214	0	0
OR4C3	256144	broad.mit.edu	37	11	48347413	48347413	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:48347413G>A	uc010rhv.2	+	0	921	c.921G>A	c.(919-921)ttG>ttA	p.L307L		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L307L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CACCTATGTTGAATCCACTCA	0.343000														71			5		0	0	0.001168	0	0
ARHGEF2	9181	broad.mit.edu	37	1	155922578	155922578	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:155922578G>C	uc001fmu.2	-	18	2212	c.1957C>G	c.(1957-1959)Cga>Gga	p.R653G	ARHGEF2_uc001fmq.2_5'Flank|ARHGEF2_uc001fmr.2_Missense_Mutation_p.R581G|ARHGEF2_uc001fms.2_Missense_Mutation_p.R608G|ARHGEF2_uc001fmt.2_Missense_Mutation_p.R609G	NM_004723	NP_004714	Q92974	ARHG2_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 2 (ARHGEF2), transcript variant 3, mRNA.	609					actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of Rho protein signal transduction|regulation of cell proliferation|small GTPase mediated signal transduction	Golgi apparatus|cytosol|microtubule|ruffle membrane|spindle|tight junction	Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|microtubule binding|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					ACCTTCTCTCGCAGCAGCTCC	0.602000														254			49		0	0	0.003610	0	0
CASZ1	54897	broad.mit.edu	37	1	10714522	10714522	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:10714522C>T	uc001aro.3	-	9	2112	c.1792G>A	c.(1792-1794)Gcc>Acc	p.A598T	CASZ1_uc001arp.1_Missense_Mutation_p.A598T|CASZ1_uc009vmx.2_Missense_Mutation_p.A622T	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TGGCAGTCGGCTGTGCCACAG	0.597000														48			26		0	0	0.003330	0	0
C7	730	broad.mit.edu	37	5	40936474	40936474	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:40936474G>A	uc003jmh.3	+	4	429	c.315G>A	c.(313-315)ggG>ggA	p.G105G	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	105	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TTTGCAATGGGGATTCTGACT	0.453000														18			10		0	0	0.006214	0	0
NAA25	80018	broad.mit.edu	37	12	112486128	112486129	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:112486128_112486129CC>TT	uc001ttm.3	-	15	1905_1906	c.1847_1848GG>AA	c.(1846-1848)cgg>cAA	p.R616Q	NAA25_uc001ttn.4_Non-coding_Transcript|NAA25_uc009zvz.2_Missense_Mutation_p.R588Q|NAA25_uc009zwa.2_Missense_Mutation_p.R616Q	NM_024953	NP_079229	Q14CX7	NAA25_HUMAN	Homo sapiens N(alpha)-acetyltransferase 25, NatB auxiliary subunit (NAA25), mRNA.	616						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CTAACAGCATCCGTTCAGTACG	0.386000														17			21		0	0	0.004672	0	0
NXPH2	11249	broad.mit.edu	37	2	139428742	139428742	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:139428742G>A	uc002tvi.3	-	1	545	c.545C>T	c.(544-546)tCc>tTc	p.S182F		NM_007226	NP_009157	O95156	NXPH2_HUMAN	Homo sapiens neurexophilin 2 (NXPH2), mRNA.	182	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)|urinary_tract(3)	22				BRCA - Breast invasive adenocarcinoma(221;0.101)		GAAAGATTTGGATTCCTTGGT	0.483000														11			11		0	0	0.000978	0	0
OR14A16	284532	broad.mit.edu	37	1	247978344	247978344	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:247978344C>T	uc001idm.1	-	0	688	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GACTGGCCTTCTGTGGAAGGG	0.408000														31			21		0	0	0.002780	0	0
DCBLD2	131566	broad.mit.edu	37	3	98600535	98600535	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:98600535G>A	uc003dte.3	-	1	645	c.282C>T	c.(280-282)ccC>ccT	p.P94P	DCBLD2_uc003dtd.3_Silent_p.P94P|DCBLD2_uc003dtf.1_Non-coding_Transcript	NM_080927	NP_563615	Q96PD2	DCBD2_HUMAN	Homo sapiens discoidin, CUB and LCCL domain containing 2 (DCBLD2), mRNA.	94	CUB.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						CAGTGCTGTTGGGATAGGTCT	0.423000														125			77		0	0	0.003610	0	0
KCNS3	3790	broad.mit.edu	37	2	18113307	18113307	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:18113307C>T	uc021veh.1	+	0	1032	c.1032C>T	c.(1030-1032)tcC>tcT	p.S344S	KCNS3_uc002rcv.3_Silent_p.S344S|KCNS3_uc002rcw.3_Silent_p.S344S	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	344					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTATCTACTCCGTGGAGAAAG	0.537000														30			49		0	0	0.003610	0	0
HMCN1	83872	broad.mit.edu	37	1	186106694	186106694	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:186106694C>T	uc001grq.1	+	87	13876	c.13647C>T	c.(13645-13647)atC>atT	p.I4549I	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Silent_p.I118I	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4549	TSP type-1 1.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAAAGGCATCCAAAAGAGGA	0.473000														24			28		0	0	0.004656	0	0
ACAA1	30	broad.mit.edu	37	3	38169314	38169314	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:38169314C>T	uc003cht.3	-	6	796	c.589G>A	c.(589-591)Gag>Aag	p.E197K	ACAA1_uc003chu.3_Missense_Mutation_p.E164K	NM_001607	NP_001598	P09110	THIK_HUMAN	Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	197					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		TCCTGCTTCTCCCGTGAAATG	0.502000														52			38		0	0	0.006999	0	0
abParts	0	broad.mit.edu	37	14	107099220	107099220	+	RNA	SNP	A	T	T	rs148129115	by1000genomes	TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr14:107099220A>T	uc021ser.1	-	109		c.4854T>A								Parts of antibodies, mostly variable regions.																		GTCTCTGGAGATGGTGAATCG	0.498000														36			5		0	0	0.000602	0	0
ARRB2	409	broad.mit.edu	37	17	4621248	4621248	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:4621248C>T	uc010vsg.2	+	7	842	c.614C>T	c.(613-615)tCa>tTa	p.S205L	ARRB2_uc002fyj.3_Missense_Mutation_p.S184L|ARRB2_uc002fyk.3_Missense_Mutation_p.S169L|ARRB2_uc002fyl.3_Missense_Mutation_p.S184L|ARRB2_uc002fym.3_Missense_Mutation_p.S169L|ARRB2_uc002fyn.3_5'UTR	NM_004313	NP_004304	P32121	ARRB2_HUMAN	Homo sapiens arrestin, beta 2 (ARRB2), transcript variant 1, mRNA.	184					G-protein coupled receptor internalization|cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|negative regulation of NF-kappaB transcription factor activity|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCCCAGCCTTCAGCCGAAACC	0.632000														13			13		0	0	0.003163	0	0
ANP32D	23519	broad.mit.edu	37	12	48866516	48866516	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:48866516C>T	uc010slt.2	+	0	69	c.69C>T	c.(67-69)ttC>ttT	p.F23F		NM_012404	NP_036536	O95626	AN32D_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member D (ANP32D), mRNA.	23										central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						AAGAACTTTTCCTGGACAACA	0.453000														81			33		0	0	0.004878	0	0
FBXL6	26233	broad.mit.edu	37	8	145579875	145579875	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:145579875C>T	uc003zcb.3	-	8	1302	c.1226_splice	c.e8-1	p.E409_splice	C8ORFK29_uc011llb.2_5'Flank|C8ORFK29_uc010mfw.3_5'Flank|C8ORFK29_uc003zby.4_5'Flank|FBXL6_uc003zbz.3_Splice_Site_p.E136_splice|FBXL6_uc003zca.3_Splice_Site_p.E403_splice|FBXL6_uc010mfx.3_Splice_Site_p.E170_splice|SLC52A2_uc003zcc.2_5'Flank|SLC52A2_uc003zce.2_5'Flank|SLC52A2_uc010mfy.2_5'Flank|SLC52A2_uc011llc.2_5'Flank|SLC52A2_uc003zcd.2_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 6 (FBXL6), transcript variant 1, mRNA.	409					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TGCTCCAGCTCTGCAGTGAAA	0.602000														18			27		0	0	0.007291	0	0
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:114355998C>G	uc002tkh.3	+	4	674	c.616C>G	c.(616-618)Cac>Gac	p.H206D	WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																		CCAAGGTGGGCACTTGATGTC	0.612000														8			5		0	0	0.001984	0	0
NAF1	92345	broad.mit.edu	37	4	164087677	164087677	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr4:164087677T>G	uc003iqj.3	-	0	397	c.203A>C	c.(202-204)cAg>cCg	p.Q68P	NAF1_uc010iqw.1_Missense_Mutation_p.Q68P	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN	Homo sapiens nuclear assembly factor 1 homolog (S. cerevisiae) (NAF1), transcript variant 1, mRNA.	68					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				CAGAACGGGCTGCAGAGGCTG	0.726000														0			8		0	0	0.008291	0	0
TUBB6	84617	broad.mit.edu	37	18	12325477	12325478	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr18:12325477_12325478CC>TT	uc002kqw.3	+	3	724_725	c.689_690CC>TT	c.(688-690)tcc>tTT	p.S230F	TUBB6_uc002kqv.3_Missense_Mutation_p.S158F|TUBB6_uc010dld.3_Non-coding_Transcript|TUBB6_uc002kqy.3_Intron	NM_032525	NP_115914	Q9BUF5	TBB6_HUMAN	Homo sapiens tubulin, beta 6 class V (TUBB6), mRNA.	230					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CACCTGGTGTCCGCCACCATGA	0.634000														31			35		0	0	0.004672	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74492586	74492586	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:74492586C>T	uc001dfy.4	-	7	1978	c.1786G>A	c.(1786-1788)Gcc>Acc	p.A596T	LRRIQ3_uc001dfz.4_Non-coding_Transcript	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	596								p.A596A(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTTTCACAGGCTTTTTCAAAG	0.303000														14			18		0	0	0.006122	0	0
MRTO4	51154	broad.mit.edu	37	1	19582531	19582531	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:19582531C>T	uc001bbs.3	+	2	432	c.177C>T	c.(175-177)gcC>gcT	p.A59A		NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN	Homo sapiens mRNA turnover 4 homolog (S. cerevisiae) (MRTO4), mRNA.	59					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCGGAACGCCTGGAAGCACA	0.572000														17			20		0	0	0.001882	0	0
AK310441	0	broad.mit.edu	37	1	148889583	148889583	+	RNA	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:148889583G>A	uc009wkv.1	+	6		c.670G>A								Homo sapiens cDNA, FLJ17483.																		CTTTTTAGATGGATGCATGCA	0.343000														77			5		0	0	0.004482	0	0
INADL	10207	broad.mit.edu	37	1	62349916	62349916	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:62349916C>T	uc001dab.3	+	21	3081	c.2967C>T	c.(2965-2967)atC>atT	p.I989I	INADL_uc009waf.1_Silent_p.I989I|INADL_uc001daa.2_Silent_p.I989I|INADL_uc001dad.3_Silent_p.I686I|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	989					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CAGGCATGATCCCGAATGATG	0.473000														40			67		0	0	0.003610	0	0
MUC17	140453	broad.mit.edu	37	7	100682642	100682642	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:100682642G>A	uc003uxp.1	+	2	7998	c.7945G>A	c.(7945-7947)Gag>Aag	p.E2649K	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2649	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCAGTTCTGAGGCTAGCAC	0.463000														9			136		0	0	0.003610	0	0
TAF13	6884	broad.mit.edu	37	1	109607282	109607282	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:109607282G>A	uc001dwm.1	-	3	293	c.238C>T	c.(238-240)Cga>Tga	p.R80*		NM_005645	NP_005636	Q15543	TAF13_HUMAN	Homo sapiens TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa (TAF13), mRNA.	80					transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIID complex	protein C-terminus binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)	3		all_epithelial(167;0.000102)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0138)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.166)|all cancers(265;0.191)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACTTGTACTCGACCTTGTCTT	0.328000														223			127		0	0	0.003610	0	0
ATP8B4	79895	broad.mit.edu	37	15	50226364	50226364	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:50226364C>T	uc001zxu.3	-	14	1445	c.1303G>A	c.(1303-1305)Gat>Aat	p.D435N	ATP8B4_uc010ber.3_Missense_Mutation_p.D308N|ATP8B4_uc010ufd.2_Missense_Mutation_p.D308N|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	435					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACTGAGAAATCCACAGGCTCT	0.353000														19			16		0	0	0.004007	0	0
TLK1	9874	broad.mit.edu	37	2	171863068	171863068	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:171863068G>A	uc002ugo.2	-	17	2219	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W	TLK1_uc002ugn.2_Missense_Mutation_p.R562W|TLK1_uc002ugp.2_Missense_Mutation_p.R514W|TLK1_uc002ugq.2_Non-coding_Transcript|TLK1_uc010zdn.1_Missense_Mutation_p.R466W	NM_001136554	NP_036422	Q9UKI8	TLK1_HUMAN	Homo sapiens tousled-like kinase 1 (TLK1), transcript variant 2, mRNA.	562	Protein kinase.				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ACAATAGACCGAGCTTCTTTC	0.348000														37			66		0	0	0.003610	0	0
TPM1	7168	broad.mit.edu	37	15	63349227	63349227	+	Missense_Mutation	SNP	T	G	G	rs104894504		TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:63349227T>G	uc002alm.3	+	3	601	c.410T>G	c.(409-411)gTt>gGt	p.V137G	TPM1_uc002alg.3_Missense_Mutation_p.V95G|TPM1_uc002alh.3_Missense_Mutation_p.V95G|TPM1_uc002ali.3_Missense_Mutation_p.V95G|TPM1_uc002alj.3_Missense_Mutation_p.V95G|TPM1_uc002alk.3_Missense_Mutation_p.V95G|TPM1_uc002all.3_Missense_Mutation_p.V95G|TPM1_uc010uie.2_Missense_Mutation_p.V95G|TPM1_uc002alp.3_Missense_Mutation_p.V95G|TPM1_uc010uif.2_Missense_Mutation_p.V59G|TPM1_uc002alr.3_Missense_Mutation_p.V59G|TPM1_uc002als.3_Missense_Mutation_p.V59G|TPM1_uc010uig.2_Missense_Mutation_p.V59G|TPM1_uc002alt.3_Missense_Mutation_p.V59G	NM_001018008	NP_001018008	P09493	TPM1_HUMAN	Homo sapiens tropomyosin 1 (alpha) (TPM1), transcript variant 6, mRNA.	95					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						ATCCAGCTGGTTGAGGAAGAG	0.532000														82			40		0	0	0.005524	0	0
DPPA5	340168	broad.mit.edu	37	6	74063756	74063756	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:74063756C>T	uc003pgs.2	-	2	164	c.113_splice	c.e2-1	p.G38_splice		NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN	Homo sapiens developmental pluripotency associated 5 (DPPA5), mRNA.	38	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						CCGTCCGGGCCTGTTGGGGAA	0.607000														36			12		0	0	0.001368	0	0
PEG3	5178	broad.mit.edu	37	19	57335018	57335018	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:57335018C>T	uc002qnu.2	-	1	775	c.424G>A	c.(424-426)Gac>Aac	p.D142N	PEG3_uc010ygr.1_5'UTR|PEG3_uc010ygq.1_5'UTR|PEG3_uc002qnr.2_Missense_Mutation_p.D16N|PEG3_uc010etp.2_Missense_Mutation_p.D16N|PEG3_uc010ygs.1_Missense_Mutation_p.D16N|PEG3_uc002qnq.2_Missense_Mutation_p.D16N|PEG3_uc002qnt.2_Missense_Mutation_p.D142N|PEG3_uc002qnv.2_Missense_Mutation_p.D142N|PEG3_uc002qnw.2_Missense_Mutation_p.D16N|PEG3_uc002qnx.2_Missense_Mutation_p.D16N|PEG3_uc010etr.2_Missense_Mutation_p.D142N	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	142					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTCATGTCGTCGTCGCTGGTC	0.552000														34			37		0	0	0.006230	0	0
OR4K13	390433	broad.mit.edu	37	14	20502632	20502632	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr14:20502632C>T	uc010tkz.2	-	0	286	c.286G>A	c.(286-288)Gga>Aga	p.G96R		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GAATAACATCCCCACCATGAG	0.463000														55			15		0	0	0.003163	0	0
DHX29	54505	broad.mit.edu	37	5	54593125	54593126	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:54593125_54593126GG>AA	uc003jpx.3	-	2	482_483	c.362_363CC>TT	c.(361-363)gcc>gTT	p.A121V	DHX29_uc010ivw.3_Non-coding_Transcript	NM_019030	NP_061903	Q7Z478	DHX29_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 29 (DHX29), mRNA.	121				A -> D (in Ref. 3; CAH56172).			ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GCAATTTTTTGGCAGTAAGTCT	0.312000														13			28		0	0	0.004672	0	0
AMZ1	155185	broad.mit.edu	37	7	2748315	2748315	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:2748315G>A	uc003smr.1	+	3	927	c.566G>A	c.(565-567)tGg>tAg	p.W189*	AMZ1_uc003sms.1_Nonsense_Mutation_p.W189*|AMZ1_uc011jwa.1_5'UTR	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	189							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		CATGAGGCCTGGAGCTTCACC	0.652000														31			34		0	0	0.006999	0	0
TULP4	56995	broad.mit.edu	37	6	158923752	158923752	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:158923752C>T	uc003qrf.3	+	12	4414	c.3057C>T	c.(3055-3057)ccC>ccT	p.P1019P	TULP4_uc003qrg.3_Intron	NM_020245	NP_064630	Q9NRJ4	TULP4_HUMAN	Homo sapiens tubby like protein 4 (TULP4), transcript variant 1, mRNA.	1019					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity	p.V1022fs*80(1)		endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		AGGGCGGGCCCGGGGGGGTGG	0.726000														0			6		0	0	0.001168	0	0
SAMD4B	55095	broad.mit.edu	37	19	39847636	39847636	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:39847636C>T	uc002olb.3	+	4	1138	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	SAMD4B_uc002ola.3_Missense_Mutation_p.R35C	NM_018028	NP_060498	Q5PRF9	SMAG2_HUMAN	Homo sapiens sterile alpha motif domain containing 4B (SAMD4B), mRNA.	35							protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ACGGGTCACCCGTACCCAGGC	0.602000														10			14		0	0	0.002450	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														25			5		0	0	0.000602	0	0
TLE2	7089	broad.mit.edu	37	19	3005473	3005473	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:3005473C>T	uc010dth.3	-	16	2124	c.1861G>A	c.(1861-1863)Gag>Aag	p.E621K	TLE2_uc010xhb.2_Missense_Mutation_p.E287K|TLE2_uc002lww.3_Missense_Mutation_p.E620K|TLE2_uc010xhc.2_Missense_Mutation_p.E498K|TLE2_uc010dti.3_Missense_Mutation_p.E634K	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	620					Wnt receptor signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		TGGCGGCCCTCCCGCAGGTCC	0.632000														4			13		0	0	0.002450	0	0
KIAA0368	23392	broad.mit.edu	37	9	114173416	114173416	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:114173416C>T	uc004bfe.1	-	22	2755	c.2755G>A	c.(2755-2757)Gag>Aag	p.E919K		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.									p.P918Q(1)		NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TGCTGTATCTCCGGGCTCTGA	0.428000														109			45		0	0	0.003610	0	0
FLT4	2324	broad.mit.edu	37	5	180041131	180041132	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:180041131_180041132CC>TT	uc003mlz.4	-	23	3346_3347	c.3267_3268GG>AA	c.(3265-3270)aaggtg>aaAAtg	p.V1090M	FLT4_uc003mma.4_Missense_Mutation_p.V1090M	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1090	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GTGGTGTACACCTTGTCGAAGA	0.624000														72			17		0	0	0.004672	0	0
BRS3	680	broad.mit.edu	37	X	135570356	135570356	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:135570356C>T	uc004ezv.1	+	0	232	c.83C>T	c.(82-84)tCt>tTt	p.S28F		NM_001727	NP_001718	P32247	BRS3_HUMAN	Homo sapiens bombesin-like receptor 3 (BRS3), mRNA.	28					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TCTGTGGTTTCTAACGATAAC	0.413000														33			30		0	0	0.002096	0	0
SLC43A3	29015	broad.mit.edu	37	11	57157407	57157407	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:57157407G>A	uc001nkc.3	-	1	85	c.11C>T	c.(10-12)cCc>cTc	p.P4L	SLC43A3_uc001nkd.3_Missense_Mutation_p.P4L|SLC43A3_uc001nke.3_Missense_Mutation_p.P284L	NM_002728	NP_002719	Q8NBI5	S43A3_HUMAN	Homo sapiens proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) (PRG2), transcript variant 1, mRNA.	0					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CAGAAGTAAGGGGAGTTTCAT	0.428000														32			48		0	0	0.003610	0	0
ZNF114	163071	broad.mit.edu	37	19	48785633	48785633	+	Silent	SNP	G	C	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:48785633G>C	uc002pil.1	+	4	512	c.15G>C	c.(13-15)tcG>tcC	p.S5S	ZNF114_uc010elv.1_Silent_p.S5S|ZNF114_uc002pim.1_Silent_p.S5S|ZNF114_uc002pin.2_5'UTR	NM_153608	NP_705836	Q8NC26	ZN114_HUMAN	Homo sapiens zinc finger protein 114 (ZNF114), mRNA.	5					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		TTTAGGACTCGGTGACCTTCG	0.498000														94			43		0	0	0.003610	0	0
CLDN23	137075	broad.mit.edu	37	8	8560185	8560185	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:8560185C>T	uc003wsi.3	+	0	520	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L		NM_194284	NP_919260	Q96B33	CLD23_HUMAN	Homo sapiens claudin 23 (CLDN23), mRNA.	93					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)	2		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.071)|READ - Rectum adenocarcinoma(644;0.238)		CGCCACGGTCCTGGGGCTTCT	0.716000														4			9		0	0	0.006214	0	0
ZNF395	55893	broad.mit.edu	37	8	28210825	28210825	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:28210825G>A	uc003xgq.3	-	4	772	c.684C>T	c.(682-684)tcC>tcT	p.S228S	ZNF395_uc003xgt.3_Silent_p.S228S|ZNF395_uc003xgr.3_Silent_p.S228S|ZNF395_uc003xgs.3_Silent_p.S228S	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.	228					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		GCGAGGGGGTGGAGACACCAC	0.622000														5			14		0	0	0.003163	0	0
ZNF517	340385	broad.mit.edu	37	8	146033000	146033000	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:146033000C>T	uc003zed.1	+	4	806	c.699C>T	c.(697-699)ttC>ttT	p.F233F	ZNF517_uc010mgd.1_Silent_p.F139F|ZNF517_uc003zee.1_Non-coding_Transcript|ZNF517_uc011llm.1_Silent_p.F139F|ZNF517_uc003zef.1_Intron	NM_213605	NP_998770	Q6ZMY9	ZN517_HUMAN	Homo sapiens zinc finger protein 517 (ZNF517), mRNA.	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			AGAAGCCGTTCCAGTGCGGCG	0.682000														1			7		0	0	0.001984	0	0
CIZ1	25792	broad.mit.edu	37	9	130947959	130947959	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:130947959G>A	uc011mas.2	-	4	710	c.545C>T	c.(544-546)cCc>cTc	p.P182L	CIZ1_uc004btr.3_Missense_Mutation_p.P152L|CIZ1_uc004bts.3_Missense_Mutation_p.P128L|CIZ1_uc011maq.2_Missense_Mutation_p.P152L|CIZ1_uc004btu.3_Missense_Mutation_p.P128L|CIZ1_uc004btt.3_Missense_Mutation_p.P152L|CIZ1_uc011mar.2_Missense_Mutation_p.P51L|CIZ1_uc004btw.3_Missense_Mutation_p.P152L|CIZ1_uc004btv.3_Missense_Mutation_p.P152L|CIZ1_uc004btx.2_Missense_Mutation_p.P128L	NM_012127	NP_036259	Q9ULV3	CIZ1_HUMAN	Homo sapiens CDKN1A interacting zinc finger protein 1 (CIZ1), transcript variant 1, mRNA.	152						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						AGTGGCCTGGGGAAAGAACTG	0.612000														25			13		0	0	0.001368	0	0
OR51B5	282763	broad.mit.edu	37	11	5364330	5364330	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:5364330A>T	uc001map.1	-	0	425	c.425T>A	c.(424-426)aTt>aAt	p.I142N	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Missense_Mutation_p.I142N	NM_001005567	NP_001005567	Q9H339	O51B5_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 5 (OR51B5), transcript variant 1, mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K141N(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCCAGCCCAATCTTCACTAC	0.453000														47			28		0	0	0.007291	0	0
STX3	6809	broad.mit.edu	37	11	59559649	59559649	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:59559649G>A	uc001nog.3	+	5	974	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	STX3_uc010rkx.2_Missense_Mutation_p.E143K|STX3_uc010rky.2_Missense_Mutation_p.E46K|STX3_uc009ymt.1_Missense_Mutation_p.E46K	NM_004177	NP_004168	Q13277	STX3_HUMAN	Homo sapiens syntaxin 3 (STX3), transcript variant 1, mRNA.	143					cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	SNARE complex|apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|specific granule	SNAP receptor activity|arachidonic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						GGACTTCCGAGAACGCAGCAA	0.517000														14			20		0	0	0.001523	0	0
SLC22A7	10864	broad.mit.edu	37	6	43267376	43267376	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:43267376G>T	uc021yzt.1	+	3	614	c.515G>T	c.(514-516)cGg>cTg	p.R172L	SLC22A7_uc010jyl.1_Missense_Mutation_p.R170L|SLC22A7_uc003ous.3_Missense_Mutation_p.R170L|SLC22A7_uc003out.3_Missense_Mutation_p.R170L	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	172						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TTTGGGCGGCGGCGTCTGCTG	0.577000														109			83		8.34767e-46	1.24837e-45	0.003610	1	0
ZDHHC1	29800	broad.mit.edu	37	16	67432122	67432122	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:67432122G>A	uc010vjm.2	-	7	1224	c.920C>T	c.(919-921)cCc>cTc	p.P307L		NM_013304	NP_037436	Q8WTX9	ZDHC1_HUMAN	Homo sapiens zinc finger, DHHC-type containing 1 (ZDHHC1), mRNA.	307						integral to membrane	DNA binding|zinc ion binding	p.R306W(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		TACCTGAATGGGCCGCATCTT	0.622000														48			23		0	0	0.002780	0	0
TMCO1	54499	broad.mit.edu	37	1	165697279	165697279	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:165697279G>A	uc001gdj.4	-	6	695	c.548C>T	c.(547-549)cCt>cTt	p.P183L	TMCO1_uc001gdk.4_Missense_Mutation_p.P171L|TMCO1_uc001gdn.4_Non-coding_Transcript	NM_019026	NP_061899	Q9UM00	TMCO1_HUMAN	Homo sapiens transmembrane and coiled-coil domains 1 (TMCO1), transcript variant 1, mRNA.	183	Poly-Pro.					Golgi membrane|endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					CTTCCCAGAAGGAGGTGGTGG	0.468000														375			49		0	0	0.003610	0	0
CHRNB2	1141	broad.mit.edu	37	1	154542297	154542297	+	Silent	SNP	T	C	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:154542297T>C	uc001ffg.3	+	2	504	c.240T>C	c.(238-240)aaT>aaC	p.N80N		NM_000748	NP_000739	P17787	ACHB2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 2 (neuronal) (CHRNB2), mRNA.	80					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	TGACCACCAATGTCTGGCTGA	0.572000														54			181		0	0	0.003610	0	0
TTC18	118491	broad.mit.edu	37	10	75059363	75059363	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:75059363C>T	uc009xrc.3	-	13	1648	c.1527G>A	c.(1525-1527)aaG>aaA	p.K509K	TTC18_uc001jty.3_Splice_Site_p.K509_splice|TTC18_uc009xrd.1_Splice_Site_p.K323_splice|TTC18_uc001jtx.3_5'Flank	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	509							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TGGCACTTGCCTTCTGAGCTC	0.393000														20			13		0	0	0.004007	0	0
OVGP1	5016	broad.mit.edu	37	1	111964242	111964242	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:111964242C>T	uc001eba.3	-	6	718	c.662G>A	c.(661-663)aGg>aAg	p.R221K	OVGP1_uc001eaz.3_Missense_Mutation_p.R183K|OVGP1_uc010owb.2_Intron	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	221					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TCCTGTGAACCTTTCCCAACT	0.478000														64			24		0	0	0.005443	0	0
GPNMB	10457	broad.mit.edu	37	7	23293816	23293816	+	Silent	SNP	T	C	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:23293816T>C	uc003swc.3	+	2	413	c.252T>C	c.(250-252)agT>agC	p.S84S	GPNMB_uc003swa.2_Silent_p.S84S|GPNMB_uc003swb.3_Silent_p.S84S|GPNMB_uc011jyy.2_Silent_p.S84S|GPNMB_uc011jyz.2_Intron	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	Homo sapiens glycoprotein (transmembrane) nmb (GPNMB), transcript variant 1, mRNA.	84					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TCCTGACCAGTGACTCACCAG	0.468000														79			62		0	0	0.003610	0	0
ACTG1	71	broad.mit.edu	37	17	79478221	79478221	+	Silent	SNP	G	A	A	rs146493032		TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:79478221G>A	uc002kak.2	-	3	1053	c.795C>T	c.(793-795)tcC>tcT	p.S265S	ACTG1_uc002kag.3_Non-coding_Transcript|ACTG1_uc002kal.2_Silent_p.S265S|ACTG1_uc021ufb.1_5'Flank	NM_001199954	NP_001186883	P63261	ACTG_HUMAN	Homo sapiens actin, gamma 1 (ACTG1), transcript variant 1, mRNA.	265					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			TACCCAGGAAGGAAGGCTGGA	0.557000														65			72		0	0	0.003610	0	0
SNX32	254122	broad.mit.edu	37	11	65618239	65618239	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:65618239G>A	uc001ofr.3	+	5	643	c.516G>A	c.(514-516)aaG>aaA	p.K172K		NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	Homo sapiens sorting nexin 32 (SNX32), mRNA.	172					cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		TCCGGGGGAAGAACAGGAAGG	0.592000														20			8		0	0	0.008291	0	0
RASAL2	9462	broad.mit.edu	37	1	178420721	178420721	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:178420721C>T	uc001glq.3	+	9	2407	c.1643C>T	c.(1642-1644)gCt>gTt	p.A548V	RASAL2_uc001glr.3_Missense_Mutation_p.A400V|RASAL2_uc009wxc.3_5'Flank	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	400					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TTTATCAAAGCTTTGTATGAG	0.388000														91			41		0	0	0.003610	0	0
SEC16A	9919	broad.mit.edu	37	9	139370859	139370859	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:139370859G>A	uc004chx.3	-	2	1518	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F	SEC16A_uc004chv.4_Silent_p.F30F|SEC16A_uc004chw.3_Silent_p.F403F|SEC16A_uc010nbn.3_Silent_p.F403F|SEC16A_uc010nbo.1_Silent_p.F403F	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	225					protein transport|vesicle-mediated transport	Golgi membrane|endoplasmic reticulum membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GGCTGGAGCAGAAATCGTCAA	0.587000														15			5		0	0	0.000602	0	0
ZGPAT	84619	broad.mit.edu	37	20	62369602	62369602	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr20:62369602G>A	uc002ygp.4	+	4	1284	c.335G>A	c.(334-336)gGa>gAa	p.G112E	ZGPAT_uc002ygn.4_Non-coding_Transcript|ZGPAT_uc011abi.2_Silent_p.R100R|SLC2A4RG_uc002ygq.3_5'Flank|SLC2A4RG_uc002ygr.3_5'Flank|SLC2A4RG_uc011abj.2_5'Flank|SLC2A4RG_uc002ygs.3_5'Flank	NM_017806	NP_060276	Q8N5A5	ZGPAT_HUMAN	Homo sapiens Lck interacting transmembrane adaptor 1 (LIME1), mRNA.	0					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GACATCACCGGACCGCAGGCA	0.711000														9			5		0	0	0.001984	0	0
CDH23	64072	broad.mit.edu	37	10	73574959	73574959	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:73574959A>C	uc001jrx.4	+	67	10370	c.9980A>C	c.(9979-9981)gAa>gCa	p.E3327A	CDH23_uc001jsg.4_Missense_Mutation_p.E1090A|CDH23_uc001jsh.4_Missense_Mutation_p.E1055A|CDH23_uc001jsi.4_Missense_Mutation_p.E1055A|CDH23_uc001jsj.4_Missense_Mutation_p.E227A|CDH23_uc010qjr.2_Missense_Mutation_p.E192A	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	3330					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCCCGCACAGAATCCGCCAAA	0.632000														4			8		0	0	0.003080	0	0
DNAH10	196385	broad.mit.edu	37	12	124330288	124330288	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:124330288C>T	uc001uft.4	+	29	5173	c.5148C>T	c.(5146-5148)caC>caT	p.H1716H		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1716	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)		GGAAAATGCACCGGCAGATCG	0.512000														17			15		0	0	0.004007	0	0
BIRC6	57448	broad.mit.edu	37	2	32828126	32828126	+	Missense_Mutation	SNP	T	G	G			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:32828126T>G	uc010ezu.3	+	70	14180	c.14046T>G	c.(14044-14046)aaT>aaG	p.N4682K		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	4682	Ubiquitin-conjugating.				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGAAGTGGAATCCTCAGACCT	0.328000														30			9		0	0	0.006214	0	0
TRRAP	8295	broad.mit.edu	37	7	98535353	98535353	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:98535353G>A	uc003upp.3	+	29	4523	c.4314G>A	c.(4312-4314)cgG>cgA	p.R1438R	TRRAP_uc011kis.2_Silent_p.R1438R|TRRAP_uc003upr.3_Silent_p.R1130R	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1438					histone H2A acetylation|histone H4 acetylation|histone deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.R1438W(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGATTACCGGAGCTTGACGC	0.413000														28			25		0	0	0.004656	0	0
E4F1	1877	broad.mit.edu	37	16	2284258	2284258	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:2284258G>A	uc002cpm.3	+	9	1510	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	E4F1_uc010bsi.3_Missense_Mutation_p.E488K|E4F1_uc010bsj.3_Intron|DNASE1L2_uc002cpn.3_5'Flank|DNASE1L2_uc002cpo.3_5'Flank|DNASE1L2_uc002cpp.3_5'Flank|DNASE1L2_uc002cpq.3_5'Flank	NM_004424	NP_004415	Q66K89	E4F1_HUMAN	Homo sapiens E4F transcription factor 1 (E4F1), mRNA.	488	Interaction with BMI1.|Mediates interaction with CDKN2A.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GCACGTGCGTGAGCGCCGCTT	0.672000														37			13		0	0	0.002450	0	0
RGL4	266747	broad.mit.edu	37	22	24034591	24034591	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr22:24034591G>A	uc002zxo.3	+	1	1506	c.249G>A	c.(247-249)cgG>cgA	p.R83R	GUSBP11_uc002zxh.4_Non-coding_Transcript|GUSBP11_uc002zxi.4_Non-coding_Transcript|GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Silent_p.R83R|RGL4_uc002zxp.1_5'UTR|RGL4_uc002zxq.3_5'UTR			Q8IZJ4	RGDSR_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA.	83					small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						CCCCGCAACGGTCATCTTTCC	0.547000														90			76		0	0	0.003610	0	0
DOK3	79930	broad.mit.edu	37	5	176931637	176931637	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:176931637G>A	uc003mhk.3	-	5	843	c.838C>T	c.(838-840)Cgt>Tgt	p.R280C	DOK3_uc003mhh.4_Intron|DOK3_uc003mhi.4_Intron|DOK3_uc003mhj.4_Intron	NM_024872	NP_079148	Q7L591	DOK3_HUMAN	Homo sapiens docking protein 3 (DOK3), transcript variant 1, mRNA.	280	IRS-type PTB.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TGGCAGCGACGGCCGGCCTCA	0.701000														10			11		0	0	0.008291	0	0
XIAP	331	broad.mit.edu	37	X	123022525	123022526	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:123022525_123022526CC>TT	uc010nqu.3	+	2	1060_1061	c.934_935CC>TT	c.(934-936)ccc>TTc	p.P312F	XIAP_uc004etx.3_Missense_Mutation_p.P312F|XIAP_uc010nqv.3_5'UTR	NM_001204401	NP_001191330	P98170	XIAP_HUMAN	Homo sapiens X-linked inhibitor of apoptosis (XIAP), transcript variant 2, mRNA.	312					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						TGATTGGAAGCCCAGTGAAGAC	0.416000									X-linked Lymphoproliferative syndrome					72			46		0	0	0.004672	0	0
DCAF15	90379	broad.mit.edu	37	19	14070065	14070065	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:14070065C>T	uc002mxt.3	+	6	999	c.993C>T	c.(991-993)gcC>gcT	p.A331A	DCAF15_uc002mxu.3_5'Flank	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 15 (DCAF15), mRNA.	331										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TCCGCCGGGCCAAAGAGGCCA	0.687000														33			13		0	0	0.002450	0	0
NUMBL	9253	broad.mit.edu	37	19	41186951	41186951	+	Silent	SNP	G	A	A	rs112715509	byFrequency	TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:41186951G>A	uc002oon.3	-	5	579	c.411C>T	c.(409-411)gtC>gtT	p.V137V	NUMBL_uc010xvq.2_Silent_p.V96V|NUMBL_uc010xvr.2_Silent_p.V96V|NUMBL_uc002ooo.3_Silent_p.V137V	NM_004756	NP_004747	Q9Y6R0	NUMBL_HUMAN	Homo sapiens numb homolog (Drosophila)-like (NUMBL), mRNA.	137	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding	p.V137V(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			TGGTCTGGTCGACCAGAAGAT	0.532000														41			92		0	0	0.003610	0	0
UNC45A	55898	broad.mit.edu	37	15	91486170	91486170	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:91486170C>T	uc002bqg.3	+	7	1225	c.885C>T	c.(883-885)atC>atT	p.I295I	UNC45A_uc002bqd.3_Silent_p.I280I	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA.	295					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AGGTCCTCATCAGTAACCTCT	0.567000														293			144		0	0	0.003610	0	0
OR51Q1	390061	broad.mit.edu	37	11	5444247	5444247	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:5444247C>T	uc010qzd.2	+	0	907	c.817C>T	c.(817-819)Ctg>Ttg	p.L273L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004757	NP_001004757	Q8NH59	O51Q1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily Q, member 1 (OR51Q1), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCTCTCCACTGGTCCATGT	0.488000														40			23		0	0	0.005443	0	0
LMNA	4000	broad.mit.edu	37	1	156108345	156108345	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:156108345G>C	uc001fni.2	+	10	2014	c.1765G>C	c.(1765-1767)Ggg>Cgg	p.G589R	LMNA_uc001fnf.1_3'UTR|LMNA_uc001fng.2_3'UTR|LMNA_uc001fnh.2_Missense_Mutation_p.G559R|LMNA_uc009wro.1_Missense_Mutation_p.G589R|LMNA_uc001fnj.2_3'UTR|LMNA_uc001fnk.2_Missense_Mutation_p.G490R|LMNA_uc010pha.1_3'UTR	NM_170707	NP_733821	P02545	LMNA_HUMAN	Homo sapiens lamin A/C (LMNA), transcript variant 1, mRNA.	589	Tail.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CGTGCTGTGCGGGACCTGCGG	0.697000									Werner syndrome;Hutchinson-Gilford Progeria Syndrome					286			21		0	0	0.001882	0	0
SMG6	23293	broad.mit.edu	37	17	2203844	2203845	+	Missense_Mutation	DNP	GG	AT	AT			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:2203844_2203845GG>AT	uc002fub.1	-	1	257_258	c.202_203CC>AT	c.(202-204)ccc>ATc	p.P68I	SMG6_uc002fud.2_Missense_Mutation_p.P37I	NM_017575	NP_060045	Q86US8	EST1A_HUMAN	Homo sapiens smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG6), transcript variant 1, mRNA.	68					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						ACTCCCAGGGGGTTCCTTGATT	0.470000														64			49		0	0	0.004672	0	0
ZDBF2	57683	broad.mit.edu	37	2	207174952	207174952	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:207174952C>T	uc002vbp.2	+	4	5950	c.5700C>T	c.(5698-5700)gtC>gtT	p.V1900V		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1900							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATGATATTGTCTGTGGTATTT	0.473000														21			22		0	0	0.002780	0	0
RHBDF2	79651	broad.mit.edu	37	17	74470502	74470502	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:74470502G>A	uc002jrq.2	-	11	1798	c.1504C>T	c.(1504-1506)Cag>Tag	p.Q502*	RHBDF2_uc021udh.1_Nonsense_Mutation_p.Q473*|RHBDF2_uc002jrr.1_Nonsense_Mutation_p.Q354*|RHBDF2_uc010wtf.1_3'UTR	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	Homo sapiens rhomboid 5 homolog 2 (Drosophila) (RHBDF2), transcript variant 1, mRNA.	502					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						TGGTCATTCTGGACACAGCAG	0.667000														35			62		0	0	0.003610	0	0
NOL9	79707	broad.mit.edu	37	1	6605240	6605240	+	Splice_Site	SNP	T	C	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:6605240T>C	uc001ans.3	-	4	841	c.745_splice	c.e4-1	p.S249_splice	NOL9_uc010nzs.2_Splice_Site	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	Homo sapiens nucleolar protein 9 (NOL9), mRNA.	249					maturation of 5.8S rRNA	nucleolus	ATP binding|RNA binding|polynucleotide 5'-hydroxyl-kinase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGTTGGACTCTGAAATCAA	0.363000														57			18		0	0	0.008871	0	0
ZNF462	58499	broad.mit.edu	37	9	109687704	109687704	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:109687704C>T	uc004bcz.3	+	2	1800	c.1511C>T	c.(1510-1512)tCc>tTc	p.S504F	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.S352F|ZNF462_uc004bda.3_Missense_Mutation_p.S352F	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	504					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCTGTGAATTCCCAGAGTGAA	0.458000														19			18		0	0	0.007413	0	0
ZBTB7B	51043	broad.mit.edu	37	1	154987922	154987922	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:154987922C>T	uc001fgj.4	+	4	1173	c.888C>T	c.(886-888)tcC>tcT	p.S296S	ZBTB7B_uc009wpa.3_Silent_p.S262S|ZBTB7B_uc001fgk.4_Silent_p.S262S|ZBTB7B_uc010peq.2_Silent_p.S296S|ZBTB7B_uc001fgl.4_Silent_p.S262S	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	262					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAACTGCCTCCCCTCCTGAGG	0.652000														60			29		0	0	0.008361	0	0
OR52H1	390067	broad.mit.edu	37	11	5566205	5566205	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:5566205G>A	uc010qzh.2	-	0	549	c.549C>T	c.(547-549)ccC>ccT	p.P183P	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTATGTGTGGGGTATGATGC	0.493000														41			19		0	0	0.008871	0	0
TXLNB	167838	broad.mit.edu	37	6	139564176	139564176	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:139564176C>T	uc021zfy.1	-	9	1707	c.1542G>A	c.(1540-1542)gaG>gaA	p.E514E		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	514						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GCGGGGTTGACTCTGGATGAT	0.522000														70			32		0	0	0.005524	0	0
OR4C11	219429	broad.mit.edu	37	11	55371520	55371520	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:55371520G>A	uc010rii.2	-	0	355	c.330C>T	c.(328-330)atC>atT	p.I110I		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TGAGGACAAAGATCTCCATGC	0.433000														19			38		0	0	0.006230	0	0
TRIM17	51127	broad.mit.edu	37	1	228596250	228596250	+	Silent	SNP	G	A	A	rs1749955		TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:228596250G>A	uc001hsu.3	-	6	1471	c.1086C>T	c.(1084-1086)gaC>gaT	p.D362D	TRIM11_uc001hss.3_5'Flank|TRIM11_uc010pvx.2_5'Flank|TRIM11_uc001hst.1_5'Flank|TRIM17_uc001hsv.3_Silent_p.D362D	NM_016102	NP_057186	Q9Y577	TRI17_HUMAN	Homo sapiens tripartite motif containing 17 (TRIM17), transcript variant 1, mRNA.	362	B30.2/SPRY.				protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CCCACAACGCGTCCCCGGTGA	0.632000														59			12		0	0	0.000978	0	0
TRBV7-6	28592	broad.mit.edu	37	7	142139726	142139726	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:142139726C>T	uc003vyt.3	-	0	90	c.45G>A	c.(43-45)ggG>ggA	p.G15G	TRBV2_uc011kro.1_Intron|TRBV5-1_uc011krr.1_Intron|TRBV7-6_uc011krv.1_5'Flank					SubName: Full=V_segment translation product; Flags: Fragment;																		ACTCACCTGTCCCTAGGAAAC	0.527000														45			40		0	0	0.002852	0	0
ZNF236	7776	broad.mit.edu	37	18	74587518	74587518	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr18:74587518G>A	uc002lmi.3	+	5	930	c.732G>A	c.(730-732)atG>atA	p.M244I	ZNF236_uc002lmj.3_Non-coding_Transcript|ZNF236_uc002lmk.1_Missense_Mutation_p.M244I	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	244					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AGACCCACATGATCAAGCACA	0.493000											OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		39			22		0	0	0.002299	0	0
DOCK11	139818	broad.mit.edu	37	X	117695392	117695392	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:117695392C>T	uc004eqp.2	+	6	668	c.605C>T	c.(604-606)tCa>tTa	p.S202L	DOCK11_uc004eqq.2_5'UTR	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	202	PH.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CCTGACGGTTCATATATTCTC	0.368000														58			66		0	0	0.003610	0	0
SF3A3	10946	broad.mit.edu	37	1	38423935	38423935	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:38423935C>T	uc001cci.3	-	17	1553	c.1429_splice	c.e17-1	p.E477_splice	SF3A3_uc010oik.2_Splice_Site_p.E424_splice	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	Homo sapiens splicing factor 3a, subunit 3, 60kDa (SF3A3), mRNA.	477					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCATATTCTTCCTGAAAAGGA	0.433000														20			31		0	0	0.005524	0	0
TULP1	7287	broad.mit.edu	37	6	35471586	35471586	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:35471586G>A	uc003okv.4	-	11	1164	c.1152C>T	c.(1150-1152)aaC>aaT	p.N384N	TULP1_uc003okw.4_Silent_p.N331N|TULP1_uc021yyx.1_Silent_p.N384N	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	384					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GGTTCTGCCCGTTGTCAAAGA	0.617000														13			10		0	0	0.006214	0	0
LPIN1	23175	broad.mit.edu	37	2	11919762	11919762	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:11919762G>A	uc010yjm.2	+	7	1148	c.1095G>A	c.(1093-1095)caG>caA	p.Q365Q	LPIN1_uc010yjn.2_Silent_p.Q280Q|LPIN1_uc002rbt.3_Silent_p.Q280Q|LPIN1_uc002rbs.3_Silent_p.Q316Q	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	280					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		AGCTGCCGCAGGCTGCTAAGG	0.463000											OREG0014444	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			15		0	0	0.006122	0	0
MPO	4353	broad.mit.edu	37	17	56348214	56348214	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:56348214C>G	uc002ivu.1	-	11	2218	c.2041G>C	c.(2041-2043)Gag>Cag	p.E681Q		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	681					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CCCTCGTTCTCCCACCAAAAC	0.572000														35			48		0	0	0.003610	0	0
ZNF516	9658	broad.mit.edu	37	18	74154768	74154768	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr18:74154768G>A	uc021ulp.1	-	2	561	c.243C>T	c.(241-243)atC>atT	p.I81I		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGTGGCTCCGGATGTGAATCT	0.672000														4			4		0	0	0.000248	0	0
DDX11L9	100288486	broad.mit.edu	37	1	13418	13418	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:13418G>A	uc010nxq.1	+	2	497	c.181G>A	c.(181-183)Gag>Aag	p.E61K	DDX11L9_uc001aaa.3_Non-coding_Transcript|DDX11L9_uc010nxr.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 9;																		CCACCACCCCGAGATCACATT	0.562000														14			4		0	0	0.003080	0	0
OIT3	170392	broad.mit.edu	37	10	74671531	74671531	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:74671531G>A	uc001jte.1	+	4	942	c.724G>A	c.(724-726)Gag>Aag	p.E242K	OIT3_uc009xqs.1_Non-coding_Transcript	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	242						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					CCTTGGATCTGAGAAAGGCTA	0.517000														30			25		0	0	0.003954	0	0
ZNF577	84765	broad.mit.edu	37	19	52376081	52376081	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:52376081C>A	uc010yde.2	-	6	1553	c.1162G>T	c.(1162-1164)Gag>Tag	p.E388*	ZNF577_uc010ydd.1_Intron|ZNF577_uc002pxx.4_Nonsense_Mutation_p.E329*|ZNF577_uc002pxv.3_Nonsense_Mutation_p.E381*|ZNF577_uc002pxw.3_Nonsense_Mutation_p.E322*	NM_032679	NP_116068	Q9BSK1	ZN577_HUMAN	Homo sapiens zinc finger protein 577 (ZNF577), transcript variant 1, mRNA.	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GAAGGTTTCTCCACCGTCAGT	0.433000														106			38		6.21074e-16	9.12289e-16	0.002852	1	0
PCDHAC2	56134	broad.mit.edu	37	5	140255556	140255556	+	Missense_Mutation	SNP	C	T	T	rs17844352		TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:140255556C>T	uc003lic.2	+	0	626	c.499C>T	c.(499-501)Ctt>Ttt	p.L167F	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.L167F	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	182	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)			CGTAAACTCTCTTTTGACCTA	0.378000														52			18		0	0	0.007413	0	0
TIAM2	26230	broad.mit.edu	37	6	155485620	155485621	+	Silent	DNP	CC	TT	TT			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:155485620_155485621CC>TT	uc003qqb.3	+	9	3373_3374	c.2100_2101CC>TT	c.(2098-2103)agccta>agTTta	p.700_701SL>SL	TIAM2_uc003qqe.3_Silent_p.700_701SL>SL|TIAM2_uc010kjj.3_Silent_p.233_234SL>SL|TIAM2_uc003qqf.3_Silent_p.52_53SL>SL|TIAM2_uc011efl.1_Silent_p.12_13SL>SL|TIAM2_uc003qqg.3_Silent_p.12_13SL>SL	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	700					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)		ATCTGGCCAGCCTACAAGGTGG	0.525000														8			66		0	0	0.004672	0	0
FBXO47	494188	broad.mit.edu	37	17	37093469	37093469	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:37093469C>T	uc002hrc.2	-	10	1518	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K		NM_001008777	NP_001008777	Q5MNV8	FBX47_HUMAN	Homo sapiens F-box protein 47 (FBXO47), mRNA.	440										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TACAGGACCTCCTTATGGAAG	0.418000														24			17		0	0	0.006122	0	0
CDK13	8621	broad.mit.edu	37	7	40027485	40027485	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:40027485C>T	uc003thh.4	+	1	1781	c.1499C>T	c.(1498-1500)aCg>aTg	p.T500M	CDK13_uc003thi.4_Missense_Mutation_p.T500M|CDK13_uc011kbf.2_5'UTR	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	500			T -> A (in dbSNP:rs3735135).		alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding	p.T500A(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAGGGGAACACGGAAACTAGT	0.468000														19			12		0	0	0.004990	0	0
KCNH6	81033	broad.mit.edu	37	17	61622496	61622496	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:61622496C>T	uc002jay.3	+	12	2642	c.2562C>T	c.(2560-2562)ccC>ccT	p.P854P	KCNH6_uc010wpl.2_Silent_p.P695P|KCNH6_uc010wpm.2_Silent_p.P818P|KCNH6_uc002jaz.1_Silent_p.P765P	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	854					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TCCAGAAGCCCATGCCCCAGG	0.637000														96			36		0	0	0.006230	0	0
ARRDC5	645432	broad.mit.edu	37	19	4891232	4891232	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:4891232G>A	uc002mbm.3	-	2	855	c.855C>T	c.(853-855)gaC>gaT	p.D285D		NM_001080523	NP_001073992	A6NEK1	ARRD5_HUMAN	Homo sapiens arrestin domain containing 5 (ARRDC5), mRNA.	285					signal transduction			p.D285D(2)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TGATCTCACCGTCCTGCGTGC	0.617000														121			7		0	0	0.003080	0	0
TCL1B	9623	broad.mit.edu	37	14	96157184	96157184	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr14:96157184C>T	uc001yfa.3	+	1	325	c.274C>T	c.(274-276)Ccc>Tcc	p.P92S	TCL1B_uc021sbi.1_Non-coding_Transcript|TCL1B_uc001yew.3_Non-coding_Transcript|TCL1B_uc001yex.3_Non-coding_Transcript|TCL1B_uc010avj.3_Non-coding_Transcript|TCL1B_uc001yez.3_Missense_Mutation_p.P92S	NM_004918	NP_004909	O95988	TCL1B_HUMAN	Homo sapiens T-cell leukemia/lymphoma 1B (TCL1B), transcript variant 1, mRNA.	92								p.P92P(1)		cervix(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		GCAGCTCTACCCCGGGAGGAA	0.607000														43			10		0	0	0.008291	0	0
KDM8	79831	broad.mit.edu	37	16	27221454	27221454	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:27221454G>A	uc010vcn.1	+	1	242	c.124G>A	c.(124-126)Gac>Aac	p.D42N	KDM8_uc010bxv.2_Missense_Mutation_p.D4N|KDM8_uc002doh.2_Missense_Mutation_p.D4N|KDM8_uc010bxw.2_Missense_Mutation_p.D4N	NM_001145348	NP_079049	Q8N371	KDM8_HUMAN	Homo sapiens jumonji domain containing 5 (JMJD5), transcript variant 1, mRNA.	4					G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen										GATGGCTGGAGACACCCACTG	0.607000														31			49		0	0	0.003610	0	0
GDF5	8200	broad.mit.edu	37	20	34025689	34025689	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr20:34025689A>T	uc010gfc.1	-	0	261	c.20T>A	c.(19-21)cTc>cAc	p.L7H	GDF5_uc002xck.1_Missense_Mutation_p.L7H	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	7					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CAAGAAAGTGAGGAGTTTGGG	0.567000														20			14		0	0	0.002450	0	0
PACS1	55690	broad.mit.edu	37	11	66002846	66002846	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:66002846G>A	uc001oha.2	+	17	2313	c.2179G>A	c.(2179-2181)Gaa>Aaa	p.E727K	PACS1_uc010rou.2_Missense_Mutation_p.E263K	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	727					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TCCCGTGGCCGAAGCCATGCT	0.517000														15			26		0	0	0.001786	0	0
WDR93	56964	broad.mit.edu	37	15	90260155	90260155	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:90260155C>T	uc002boj.3	+	6	871	c.770C>T	c.(769-771)cCc>cTc	p.P257L	WDR93_uc010bnr.3_Missense_Mutation_p.P257L	NM_020212	NP_064597	Q6P2C0	WDR93_HUMAN	Homo sapiens WD repeat domain 93 (WDR93), mRNA.	257					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH	p.P257L(2)		NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			TCCCTTGGTCCCATTTCTGCA	0.323000														60			20		0	0	0.002780	0	0
RS1	6247	broad.mit.edu	37	X	18662560	18662560	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:18662560C>T	uc004cyo.3	-	4	547	c.512G>A	c.(511-513)gGa>gAa	p.G171E	CDKL5_uc004cym.3_Intron|CDKL5_uc004cyn.3_Intron	NM_000330	NP_000321	O15537	XLRS1_HUMAN	Homo sapiens retinoschisin 1 (RS1), mRNA.	171	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CCGGTTGTTTCCAGTCTGGTC	0.567000														68			38		0	0	0.006230	0	0
PZP	5858	broad.mit.edu	37	12	9345254	9345254	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:9345254G>A	uc001qvl.3	-	11	1365	c.1336C>T	c.(1336-1338)Cgt>Tgt	p.R446C	PZP_uc009zgl.3_Missense_Mutation_p.R315C	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						GAGAAAACACGATTTGCAGTG	0.488000														46			49		0	0	0.003610	0	0
OTOR	56914	broad.mit.edu	37	20	16729116	16729116	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr20:16729116G>A	uc002wpj.3	+	0	114	c.70G>A	c.(70-72)Gac>Aac	p.D24N		NM_020157	NP_064542	Q9NRC9	OTOR_HUMAN	Homo sapiens otoraplin (OTOR), mRNA.	24					sensory perception of sound	extracellular region				breast(1)|central_nervous_system(1)|endometrium(1)|liver(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10						AATATTTATGGACCGTCTAGC	0.363000														81			136		0	0	0.003610	0	0
CAMSAP1	157922	broad.mit.edu	37	9	138719360	138719360	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:138719360G>A	uc004cgr.4	-	7	1116	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	CAMSAP1_uc004cgq.4_Silent_p.F262F|CAMSAP1_uc010nbg.3_Silent_p.F94F	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	372						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GGCTGCCTAGGAAACTGCGTT	0.597000														17			10		0	0	0.006214	0	0
SLC36A3	285641	broad.mit.edu	37	5	150666905	150666905	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:150666905C>T	uc003ltx.2	-	6	1152	c.733G>A	c.(733-735)Gtg>Atg	p.V245M	SLC36A3_uc003ltv.2_Missense_Mutation_p.V189M|SLC36A3_uc003ltw.2_Missense_Mutation_p.V204M	NM_001145017	NP_001138489	Q495N2	S36A3_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 3 (SLC36A3), transcript variant 1, mRNA.	204						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGATAAACACCAACAGGATC	0.517000														67			17		0	0	0.004990	0	0
KIF2B	84643	broad.mit.edu	37	17	51902278	51902278	+	Silent	SNP	T	C	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:51902278T>C	uc002iua.2	+	0	2040	c.1884T>C	c.(1882-1884)ggT>ggC	p.G628G	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	628					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.A627D(1)|p.A627G(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGAGAGCTGGTGGAGTACACC	0.428000														111			28		0	0	0.004656	0	0
MAZ	4150	broad.mit.edu	37	16	29820898	29820898	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:29820898G>A	uc002dtx.3	+	4	1485	c.1317G>A	c.(1315-1317)gtG>gtA	p.V439V	BOLA2_uc010bzb.1_Intron|MAZ_uc010vdx.2_Intron|MAZ_uc002dty.3_Intron|MAZ_uc002dtz.1_3'UTR|AK097472_uc002duc.1_Intron|PRRT2_uc002dud.2_5'Flank|PRRT2_uc002due.4_5'Flank|PRRT2_uc002duf.1_5'Flank	NM_001042539	NP_001036004	P56270	MAZ_HUMAN	Homo sapiens MYC-associated zinc finger protein (purine-binding transcription factor) (MAZ), transcript variant 2, mRNA.	210	Poly-Ala.				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|RNA binding|protein binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TCCACGCGGTGAAGGACCACG	0.687000														1			12		0	0	0.001855	0	0
TBL3	10607	broad.mit.edu	37	16	2027060	2027060	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:2027060C>T	uc002cnu.1	+	14	1548	c.1446C>T	c.(1444-1446)atC>atT	p.I482I	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Silent_p.I368I|TBL3_uc010bsc.1_Silent_p.I349I|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	482					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GCCAGGACATCAACAGCGTGG	0.637000														24			27		0	0	0.007291	0	0
HECW2	57520	broad.mit.edu	37	2	197184050	197184050	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:197184050C>T	uc002utm.1	-	8	1747	c.1564G>A	c.(1564-1566)Gaa>Aaa	p.E522K	HECW2_uc002utl.1_Missense_Mutation_p.E166K	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	522					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GAAGCAGCTTCGTGTGTGGAG	0.537000														43			10		0	0	0.006214	0	0
GRIP2	80852	broad.mit.edu	37	3	14538038	14538038	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:14538038C>T	uc021wtn.1	-	23	2998	c.2998G>A	c.(2998-3000)Gtg>Atg	p.V1000M	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	904	PDZ 7.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TCGAGGGCCACCCTCTGCACG	0.622000														8			10		0	0	0.008291	0	0
ANKRD45	339416	broad.mit.edu	37	1	173596225	173596225	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:173596225C>T	uc001gja.1	-	3	631	c.570G>A	c.(568-570)ggG>ggA	p.G190G		NM_198493	NP_940895	Q5TZF3	ANR45_HUMAN	Homo sapiens ankyrin repeat domain 45 (ANKRD45), mRNA.	206								p.G190E(1)		NS(2)|endometrium(2)|large_intestine(4)|lung(3)|skin(1)	12						TAAGGAGTTTCCCTGATCCCT	0.353000														63			73		0	0	0.003610	0	0
ARMC4	55130	broad.mit.edu	37	10	28229688	28229688	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:28229688G>A	uc009xky.3	-	12	1888	c.1790C>T	c.(1789-1791)tCg>tTg	p.S597L	ARMC4_uc010qds.2_Missense_Mutation_p.S122L|ARMC4_uc010qdt.2_Missense_Mutation_p.S289L|ARMC4_uc001itz.3_Missense_Mutation_p.S597L|ARMC4_uc010qdu.1_Missense_Mutation_p.S289L	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	597							binding	p.S597L(2)|p.Q596K(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATACAGACTCGATTGGGCAGG	0.443000														24			21		0	0	0.008871	0	0
FEM1C	56929	broad.mit.edu	37	5	114879096	114879096	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:114879096G>A	uc003krb.1	-	1	657	c.95C>T	c.(94-96)tCc>tTc	p.S32F		NM_020177	NP_064562	Q96JP0	FEM1C_HUMAN	Homo sapiens fem-1 homolog c (C. elegans) (FEM1C), mRNA.	32						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		GATCAAGGAGGAAACCTCCTC	0.483000														25			44		0	0	0.002522	0	0
ASB16	92591	broad.mit.edu	37	17	42248184	42248184	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:42248184C>T	uc002ifl.1	+	0	111	c.27C>T	c.(25-27)acC>acT	p.T9T	ASB16_uc002ifm.1_Non-coding_Transcript	NM_080863	NP_543139	Q96NS5	ASB16_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 16 (ASB16), mRNA.	9					intracellular signal transduction		protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|liver(2)|lung(2)|prostate(1)	14		Breast(137;0.00765)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TCCCCTTCACCTCCTCCATGC	0.687000														38			21		0	0	0.002780	0	0
BTN2A2	10385	broad.mit.edu	37	6	26392817	26392817	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:26392817C>T	uc003nht.3	+	7	1327	c.1194C>T	c.(1192-1194)gtC>gtT	p.V398V	BTN2A2_uc003nhs.3_Intron|BTN2A2_uc003nhq.3_Silent_p.V398V|BTN2A2_uc003nhr.3_Silent_p.V282V|BTN2A2_uc011dkh.2_Silent_p.V188V|BTN2A2_uc011dkg.2_3'UTR|BTN2A2_uc011dki.1_3'UTR	NM_001197237	NP_001184166	Q8WVV5	BT2A2_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A2 (BTN2A2), transcript variant 3, mRNA.	398	B30.2/SPRY.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CTGTGGGGGTCTGCAGACACA	0.557000														46			38		0	0	0.005524	0	0
PERP	64065	broad.mit.edu	37	6	138413187	138413187	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:138413187A>C	uc003qht.2	-	2	757	c.574T>G	c.(574-576)Tct>Gct	p.S192A		NM_022121	NP_071404	Q96FX8	PERP_HUMAN	Homo sapiens PERP, TP53 apoptosis effector (PERP), mRNA.	192					apoptosis|cell adhesion	Golgi apparatus|desmosome|integral to membrane|nucleus				breast(1)|cervix(1)|endometrium(1)|lung(1)|prostate(1)	5	Breast(32;0.0799)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000878)|OV - Ovarian serous cystadenocarcinoma(155;0.000997)		AGTTAGGCAGATGTGTAGAAG	0.488000														0			19		0	0	0.007413	0	0
VN1R4	317703	broad.mit.edu	37	19	53770138	53770138	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:53770138T>C	uc010ydu.2	-	0	781	c.781A>G	c.(781-783)Aat>Gat	p.N261D		NM_173857	NP_776256	Q7Z5H5	VN1R4_HUMAN	Homo sapiens vomeronasal 1 receptor 4 (VN1R4), mRNA.	261					response to pheromone	actin cytoskeleton|cytoplasm|integral to membrane|plasma membrane	pheromone receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	22				GBM - Glioblastoma multiforme(134;0.00294)		CTATTGGGATTATCCAAAAGA	0.458000										HNSCC(26;0.072)				14			14		0	0	0.002450	0	0
BAHCC1	57597	broad.mit.edu	37	17	79414271	79414271	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:79414271G>T	uc002kaf.2	+	9	3187	c.3187G>T	c.(3187-3189)Gag>Tag	p.E1063*	BAHCC1_uc002kae.2_Nonsense_Mutation_p.E355*	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	1125							DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			AGGGGCCAGGGAGGCCACCCA	0.716000														10			7		0.00198382	0.00286937	0.001984	1	0
SLCO6A1	133482	broad.mit.edu	37	5	101726728	101726728	+	Silent	SNP	A	C	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:101726728A>C	uc003knn.3	-	10	2008	c.1836T>G	c.(1834-1836)cgT>cgG	p.R612R	SLCO6A1_uc003kno.3_Silent_p.R359R|SLCO6A1_uc003knp.3_Silent_p.R612R|SLCO6A1_uc003knq.3_Silent_p.R550R	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	612						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AGGCCAGAGAACGCAGTTTGT	0.333000														110			36		0	0	0.006999	0	0
CBFA2T2	9139	broad.mit.edu	37	20	32194823	32194823	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr20:32194823C>T	uc002wzg.1	+	2	660	c.123C>T	c.(121-123)tcC>tcT	p.S41S	CBFA2T2_uc010zug.1_Intron|CBFA2T2_uc002wze.1_Silent_p.S32S|CBFA2T2_uc021wbz.1_Silent_p.S12S|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Silent_p.S12S|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	41	Pro-rich.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AGATACAGTCCAGATCCTCAC	0.522000														47			44		0	0	0.002852	0	0
SLC38A10	124565	broad.mit.edu	37	17	79249886	79249886	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:79249886G>A	uc002jzz.1	-	7	1170	c.795C>T	c.(793-795)ccC>ccT	p.P265P	SLC38A10_uc002jzy.1_Silent_p.P183P|SLC38A10_uc002kab.3_Silent_p.P265P	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	265					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CCAGGTTGGAGGGAAAGTGCA	0.587000														28			31		0	0	0.007291	0	0
MRGPRD	116512	broad.mit.edu	37	11	68748403	68748403	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:68748403G>A	uc010rqf.2	-	0	53	c.53C>T	c.(52-54)tCc>tTc	p.S18F		NM_198923	NP_944605	Q8TDS7	MRGRD_HUMAN	Homo sapiens MAS-related GPR, member D (MRGPRD), mRNA.	18						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCTCCCTCTGGAATAGTTTAG	0.552000														16			35		0	0	0.003755	0	0
ARPC1B	10095	broad.mit.edu	37	7	98985838	98985838	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:98985838G>A	uc003upz.3	+	3	466	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	ARPC1A_uc011kit.2_Non-coding_Transcript	NM_005720	NP_005711	O15143	ARC1B_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 1B, 41kDa (ARPC1B), mRNA.	116					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TGTGGGCAGCGGCTCTCGTGT	0.632000														35			10		0	0	0.001368	0	0
INSRR	3645	broad.mit.edu	37	1	156811287	156811287	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:156811287G>A	uc010pht.2	-	20	3860	c.3561C>T	c.(3559-3561)acC>acT	p.T1187T	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1187	Protein kinase.				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)					GTTCTGCCAGGGTCACAATCT	0.612000														62			213		0	0	0.003610	0	0
IQSEC2	23096	broad.mit.edu	37	X	53285070	53285070	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:53285070G>A	uc004dsd.3	-	2	1112	c.911C>T	c.(910-912)gCc>gTc	p.A304V	IQSEC2_uc004dsc.3_Missense_Mutation_p.A99V|IQSEC2_uc022bxf.1_Missense_Mutation_p.A67V	NM_001111125	NP_001104595	Q5JU85	IQEC2_HUMAN	Homo sapiens IQ motif and Sec7 domain 2 (IQSEC2), transcript variant 1, mRNA.	294					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CTTCCTCAGGGCGACACTGGC	0.652000														18			14		0	0	0.002450	0	0
KCNH8	131096	broad.mit.edu	37	3	19554559	19554559	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:19554559C>T	uc003cbk.1	+	12	2372	c.2177C>T	c.(2176-2178)tCc>tTc	p.S726F	KCNH8_uc010hex.1_Missense_Mutation_p.S187F	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	726						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						gaggCAGTCTCCCTCTCTCCC	0.532000														19			17		0	0	0.004990	0	0
OR6Y1	391112	broad.mit.edu	37	1	158517501	158517501	+	Missense_Mutation	SNP	C	A	A	rs138226850	byFrequency	TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:158517501C>A	uc010pil.2	-	0	395	c.395G>T	c.(394-396)tGt>tTt	p.C132F		NM_001005189	NP_001005189	Q8NGX8	OR6Y1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Y, member 1 (OR6Y1), mRNA.	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TAGTGGATTACAAATGGCTAC	0.468000														36			57		3.21867e-24	4.77028e-24	0.003610	1	0
MUC16	94025	broad.mit.edu	37	19	9057803	9057803	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:9057803C>T	uc002mkp.3	-	2	29847	c.29643G>A	c.(29641-29643)gaG>gaA	p.E9881E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9883	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						AGGTGCTAGTCTCCCTGAATC	0.473000														47			25		0	0	0.004656	0	0
ASPM	259266	broad.mit.edu	37	1	197069625	197069625	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:197069625C>T	uc001gtu.3	-	17	9013	c.8756G>A	c.(8755-8757)aGa>aAa	p.R2919K	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Missense_Mutation_p.R767K	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2919	IQ 33.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCCTTTACTTCTAGCTTGAAT	0.299000														24			22		0	0	0.002780	0	0
SNX7	51375	broad.mit.edu	37	1	99167425	99167425	+	Missense_Mutation	SNP	A	C	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:99167425A>C	uc010ouc.2	+	6	1143	c.1091A>C	c.(1090-1092)gAa>gCa	p.E364A	SNX7_uc001dsa.3_Missense_Mutation_p.E300A|SNX7_uc010oud.2_Missense_Mutation_p.E309A	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN	Homo sapiens sorting nexin 7 (SNX7), transcript variant 1, mRNA.	300					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TCCAAAGTTGAAGTTTTGACC	0.289000														84			117		0	0	0.003610	0	0
MYH13	8735	broad.mit.edu	37	17	10215912	10215912	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:10215912C>T	uc002gmk.1	-	30	4434	c.4344G>A	c.(4342-4344)aaG>aaA	p.K1448K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1448					muscle contraction	muscle myosin complex|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCCTCTGCTTCTTGTCCAGTG	0.522000														14			17		0	0	0.007413	0	0
MICAL1	64780	broad.mit.edu	37	6	109770953	109770953	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:109770953G>A	uc011eaq.2	-	9	1689	c.1398C>T	c.(1396-1398)tcC>tcT	p.S466S	MICAL1_uc003ptj.3_Silent_p.S447S|MICAL1_uc003ptk.3_Silent_p.S447S|MICAL1_uc010kdr.3_Silent_p.S361S	NM_022765	NP_073602	Q8TDZ2	MICA1_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 1 (MICAL1), transcript variant 1, mRNA.	447					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TGTTTTCTGGGGATGTCTGTG	0.612000														8			39		0	0	0.008740	0	0
NOX3	50508	broad.mit.edu	37	6	155732481	155732481	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:155732481C>T	uc003qqm.3	-	10	1425	c.1322G>A	c.(1321-1323)tGg>tAg	p.W441*		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	441							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CCGGCAAATCCAGTAGAAATA	0.408000														1			24		0	0	0.003954	0	0
FHL5	9457	broad.mit.edu	37	6	97063574	97063574	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:97063574G>A	uc003pos.2	+	6	1197	c.781G>A	c.(781-783)Ggt>Agt	p.G261S	FHL5_uc003pot.2_Missense_Mutation_p.G261S	NM_020482	NP_065228	Q5TD97	FHL5_HUMAN	Homo sapiens four and a half LIM domains 5 (FHL5), transcript variant 1, mRNA.	261	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)		CTCCTTGGTGGGTAAAGGCTT	0.483000														5			33		0	0	0.002445	0	0
DDX39A	10212	broad.mit.edu	37	19	14521053	14521053	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:14521053G>A	uc002myo.3	-	5	825	c.707C>T	c.(706-708)cCt>cTt	p.P236L	DDX39A_uc010xnp.2_Missense_Mutation_p.P236L|DDX39A_uc010dzl.3_Non-coding_Transcript|DDX39A_uc010dzm.1_Missense_Mutation_p.P236L	NM_005804	NP_005795	O00148	DX39A_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A (DDX39A), transcript variant 1, mRNA.	236	Helicase ATP-binding.				mRNA export from nucleus|nuclear mRNA splicing, via spliceosome	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.P236P(1)		NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						CCTGCACACAGGCCGGATGTC	0.632000														43			17		0	0	0.004990	0	0
CXXC1	30827	broad.mit.edu	37	18	47810872	47810873	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr18:47810872_47810873GG>AA	uc002leq.4	-	8	1813_1814	c.1080_1081CC>TT	c.(1078-1083)caccca>caTTca	p.P361S	MBD1_uc002leg.3_5'Flank|MBD1_uc010dow.2_5'Flank|MBD1_uc010xdj.2_5'Flank|MBD1_uc002lel.4_5'Flank|MBD1_uc002len.3_5'Flank|MBD1_uc002leh.4_5'Flank|MBD1_uc002lei.4_5'Flank|MBD1_uc002lej.4_5'Flank|MBD1_uc002lek.4_5'Flank|MBD1_uc002lem.4_5'Flank|MBD1_uc021ukd.1_5'Flank|MBD1_uc021uke.1_5'Flank|MBD1_uc010xdk.2_5'Flank|MBD1_uc002leo.2_5'Flank|CXXC1_uc002lep.4_Missense_Mutation_p.P218S|CXXC1_uc002ler.4_Missense_Mutation_p.P365S|CXXC1_uc010doy.3_Missense_Mutation_p.P361S	NM_014593	NP_055408	Q9P0U4	CXXC1_HUMAN	Homo sapiens CXXC finger protein 1 (CXXC1), transcript variant 2, mRNA.	361					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Set1C/COMPASS complex|nuclear speck	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						GCCCTCTCTGGGTGTTTCCATT	0.589000														42			29		0	0	0.004672	0	0
FUK	197258	broad.mit.edu	37	16	70497570	70497570	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:70497570C>T	uc010cft.3	+	2	185	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	FUK_uc010vmb.1_Silent_p.L43L|FUK_uc002eyy.3_Silent_p.L43L|FUK_uc002eyz.3_Intron	NM_145059	NP_659496	Q8N0W3	FUK_HUMAN	Homo sapiens fucokinase (FUK), mRNA.	43						cytoplasm	ATP binding|fucokinase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				TGCTGGGACGCTGTTACTGGC	0.657000														57			21		0	0	0.008871	0	0
INPP5J	27124	broad.mit.edu	37	22	31521951	31521951	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr22:31521951C>T	uc003aju.4	+	1	1318	c.1226C>T	c.(1225-1227)tCc>tTc	p.S409F	INPP5J_uc010gwf.3_Missense_Mutation_p.S409F|INPP5J_uc003ajw.3_Intron|INPP5J_uc003ajt.4_Intron|INPP5J_uc003ajv.4_Missense_Mutation_p.S42F|INPP5J_uc003ajs.4_Missense_Mutation_p.S42F|INPP5J_uc011alk.2_Missense_Mutation_p.S342F|INPP5J_uc010gwg.3_Intron	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	409						cytoplasm|ruffle	SH3 domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CTGTCATCCTCCCCTTGGTCA	0.632000														24			14		0	0	0.004990	0	0
RNF213	57674	broad.mit.edu	37	17	78363957	78363958	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:78363957_78363958CC>TT	uc002jyh.2	+	67	15721_15722	c.15578_15579CC>TT	c.(15577-15579)ccc>cTT	p.P5193L	RNF213_uc021uen.1_Missense_Mutation_p.P5144L|LOC100294362_uc002jyi.2_Intron|RNF213_uc010dhx.2_Missense_Mutation_p.P161L	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CTAAAGAACCCCCAAACCCAAA	0.520000														75			54		0	0	0.004672	0	0
NLRP13	126204	broad.mit.edu	37	19	56423635	56423635	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:56423635G>A	uc010ygg.2	-	4	1573	c.1548C>T	c.(1546-1548)ctC>ctT	p.L516L		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	516	NACHT.						ATP binding	p.L516F(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGAACTCGTAGAGAGAATCAA	0.453000														39			15		0	0	0.004007	0	0
EHBP1L1	254102	broad.mit.edu	37	11	65347602	65347602	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:65347602C>T	uc001oeo.4	+	4	628	c.363C>T	c.(361-363)gcC>gcT	p.A121A		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.	121										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TGGACCTGGCCCGCCATGCAG	0.657000														8			22		0	0	0.001523	0	0
KIF14	9928	broad.mit.edu	37	1	200572356	200572356	+	Silent	SNP	T	C	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:200572356T>C	uc010ppk.1	-	9	2416	c.1977A>G	c.(1975-1977)acA>acG	p.T659T	KIF14_uc010ppj.1_Silent_p.T168T	NM_014875	NP_055690	Q15058	KIF14_HUMAN	Homo sapiens kinesin family member 14 (KIF14), mRNA.	659					microtubule-based movement	cytoplasm|microtubule|nucleus|spindle	ATP binding|microtubule motor activity|protein binding			NS(1)|breast(5)|central_nervous_system(2)|endometrium(8)|kidney(8)|large_intestine(15)|lung(13)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	61						ATACTTGCCATGTAAGAACAG	0.323000														32			24		0	0	0.002780	0	0
ZFP112	7771	broad.mit.edu	37	19	44891168	44891168	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:44891168G>A	uc010xxa.2	-	3	1303	c.1260C>T	c.(1258-1260)tcC>tcT	p.S420S	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Silent_p.S413S	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	706					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						CTTGAAGAACGGAGCTTGAAC	0.493000														25			16		0	0	0.008871	0	0
SACS	26278	broad.mit.edu	37	13	23911669	23911669	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr13:23911669G>A	uc001uon.2	-	9	6935	c.6346C>T	c.(6346-6348)Ccc>Tcc	p.P2116S	SACS_uc001uoo.2_Missense_Mutation_p.P1969S|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2116					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CGTCCTTCGGGGTGGATCAAT	0.393000														14			18		0	0	0.007413	0	0
CCDC110	256309	broad.mit.edu	37	4	186380710	186380710	+	Missense_Mutation	SNP	G	C	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr4:186380710G>C	uc003ixu.4	-	5	1107	c.1031C>G	c.(1030-1032)tCt>tGt	p.S344C	CCDC110_uc003ixv.4_Missense_Mutation_p.S307C|CCDC110_uc011ckt.1_Missense_Mutation_p.S344C	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	344						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTCACTCTTAGATAACTTTTT	0.318000														4			51		0	0	0.003610	0	0
ZNF189	7743	broad.mit.edu	37	9	104170392	104170392	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:104170392C>T	uc004bbh.1	+	2	618	c.342C>T	c.(340-342)ttC>ttT	p.F114F	ZNF189_uc004bbg.1_Silent_p.F72F|ZNF189_uc004bbi.1_Silent_p.F100F|ZNF189_uc011lvk.1_Silent_p.F99F|ZNF189_uc022ble.1_Silent_p.F19F	NM_003452	NP_932094	O75820	ZN189_HUMAN	Homo sapiens zinc finger protein 189 (ZNF189), transcript variant 1, mRNA.	114					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F114L(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GAGGGATCTTCCTATGGGAAA	0.378000														9			8		0	0	0.004482	0	0
TBC1D8B	54885	broad.mit.edu	37	X	106069312	106069313	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:106069312_106069313CC>TT	uc004emo.3	+	5	1045_1046	c.880_881CC>TT	c.(880-882)ccc>TTc	p.P294F	MORC4_uc004emp.4_Intron|TBC1D8B_uc004emm.3_Missense_Mutation_p.P294F|TBC1D8B_uc004emn.3_Missense_Mutation_p.P294F	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	294	GRAM 2.					intracellular	Rab GTPase activator activity|calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TTTTAGGCTGCCCAAAGGAGAG	0.366000														65			46		0	0	0.004672	0	0
BRD3	8019	broad.mit.edu	37	9	136899829	136899829	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:136899829G>A	uc004cew.3	-	10	2247	c.2059C>T	c.(2059-2061)Cgg>Tgg	p.R687W		NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	687	Ser-rich.					nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GTACCTTTCCGGGCGGGCTTC	0.612000			T	C15orf55	lethal midline carcinoma of young people									16			17		0	0	0.004007	0	0
CYLC1	1538	broad.mit.edu	37	X	83129299	83129299	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:83129299C>T	uc004eei.1	+	3	1604	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F	CYLC1_uc004eeh.1_Missense_Mutation_p.S527F	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	528					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GATGAATCTTCCAAGACAGGC	0.353000														12			9		0	0	0.004482	0	0
UGGT1	56886	broad.mit.edu	37	2	128877960	128877960	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:128877960G>A	uc002tps.3	+	8	1081	c.903G>A	c.(901-903)ttG>ttA	p.L301L	UGGT1_uc010fme.1_Silent_p.L176L|UGGT1_uc002tpr.3_Silent_p.L277L	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	301					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGGGACAGTTGAAAGAACTCA	0.413000														110			43		0	0	0.003610	0	0
CACNG3	10368	broad.mit.edu	37	16	24366209	24366209	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:24366209C>T	uc002dmf.3	+	2	1553	c.351C>T	c.(349-351)ttC>ttT	p.F117F		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	117					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.F117F(2)		NS(2)|breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|skin(2)	40				GBM - Glioblastoma multiforme(48;0.0809)		TGCTGTTCTTCGGCGGGCTCT	0.617000														27			17		0	0	0.004007	0	0
MSANTD1	345222	broad.mit.edu	37	4	3255159	3255159	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr4:3255159C>T	uc003ggs.3	+	1	729	c.546C>T	c.(544-546)ttC>ttT	p.F182F		NM_001042690	NP_001036155	Q6ZTZ1	CD044_HUMAN	Homo sapiens chromosome 4 open reading frame 44 (C4orf44), mRNA.	182										endometrium(1)|lung(2)	3						AAGGCCGCTTCGAGGATGATC	0.622000														15			113		0	0	0.003610	0	0
SCTR	6344	broad.mit.edu	37	2	120236412	120236412	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:120236412G>A	uc002tma.3	-	2	502	c.276C>T	c.(274-276)ttC>ttT	p.F92F	SCTR_uc002tlz.3_5'UTR	NM_002980	NP_002971	P47872	SCTR_HUMAN	Homo sapiens secretin receptor (SCTR), mRNA.	92					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GCATCCGGAGGAATCTCGGGC	0.617000														12			29		0	0	0.008361	0	0
COX7A2L	9167	broad.mit.edu	37	2	42578482	42578483	+	Missense_Mutation	DNP	GG	AA	AA	rs145811069	byFrequency	TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:42578482_42578483GG>AA	uc002rsk.3	-	2	908_909	c.221_222CC>TT	c.(220-222)ccc>cTT	p.P74L	COX7A2L_uc002rsl.3_Non-coding_Transcript	NM_004718	NP_004709	O14548	COX7R_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIa polypeptide 2 like (COX7A2L), nuclear gene encoding mitochondrial protein, mRNA.	74					respiratory electron transport chain	mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			lung(4)	4						TCAGGTAGACGGGCACACCATC	0.446000														29			12		0	0	0.004672	0	0
DHX8	1659	broad.mit.edu	37	17	41577465	41577465	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:41577465C>T	uc002idu.1	+	10	1612	c.1540C>T	c.(1540-1542)Cct>Tct	p.P514S	DHX8_uc010wif.1_Missense_Mutation_p.P423S|DHX8_uc010wig.2_Missense_Mutation_p.P514S	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	514						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|RNA binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TGACCCTCTGCCTGATGGTAG	0.512000														92			60		0	0	0.003610	0	0
TMC3	342125	broad.mit.edu	37	15	81660594	81660594	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:81660594C>T	uc021ssk.1	-	3	312	c.312_splice	c.e3+1	p.E104_splice	TMC3_uc021ssj.1_Splice_Site_p.E104_splice|TMC3_uc010blr.1_Splice_Site|TMC3_uc002bgp.3_Splice_Site_p.E104_splice	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	104						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TCTGTATTACCTCTGCACCTG	0.527000														44			68		0	0	0.003610	0	0
ATP6V1B1	525	broad.mit.edu	37	2	71191956	71191956	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:71191956G>A	uc002shj.3	+	12	1426	c.1339G>A	c.(1339-1341)Gaa>Aaa	p.E447K	ATP6V1B1_uc010fdx.3_Missense_Mutation_p.E405K	NM_001692	NP_001683	P15313	VATB1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1 (ATP6V1B1), mRNA.	447					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						GCTCTACCTGGAATTCCTGCA	0.582000											OREG0014686	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		36			10		0	0	0.001368	0	0
DZIP1	22873	broad.mit.edu	37	13	96293791	96293791	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr13:96293791T>C	uc001vmk.3	-	4	1207	c.355A>G	c.(355-357)Aag>Gag	p.K119E	DZIP1_uc001vml.3_Missense_Mutation_p.K119E	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	119					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CGGATGAGCTTCAGCAGCACC	0.602000														3			54		0	0	0.003610	0	0
CNGB1	1258	broad.mit.edu	37	16	58001115	58001115	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:58001115C>T	uc002emt.2	-	1	141	c.76G>A	c.(76-78)Gaa>Aaa	p.E26K	CNGB1_uc010cdh.2_Missense_Mutation_p.E26K|CNGB1_uc002emu.2_Missense_Mutation_p.E26K	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	26	Glu-rich.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGTTCCACTTCCTCTTCCTCC	0.612000														30			31		0	0	0.001786	0	0
TOPORS	10210	broad.mit.edu	37	9	32541581	32541581	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:32541581G>A	uc003zrb.3	-	2	3134	c.2942C>T	c.(2941-2943)aCt>aTt	p.T981I	TOPORS_uc003zrc.3_Missense_Mutation_p.T916I	NM_005802	NP_001182551	Q9NS56	TOPRS_HUMAN	Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.	981					DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	PML body|nuclear speck	DNA binding|DNA topoisomerase I binding|SUMO ligase activity|antigen binding|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ATTATCTACAGTTTTGTTGGC	0.393000														55			32		0	0	0.002445	0	0
TFR2	7036	broad.mit.edu	37	7	100226912	100226912	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:100226912C>T	uc003uvv.1	-	9	1423	c.1354G>A	c.(1354-1356)Gag>Aag	p.E452K	TFR2_uc010lhc.1_5'UTR|TFR2_uc003uvu.1_Missense_Mutation_p.E281K	NM_003227	NP_003218	Q9UP52	TFR2_HUMAN	Homo sapiens transferrin receptor 2 (TFR2), transcript variant 1, mRNA.	452					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CGCACCAGCTCCAGGAGTATA	0.637000														33			35		0	0	0.004878	0	0
ZNF138	7697	broad.mit.edu	37	7	64292121	64292121	+	Silent	SNP	C	T	T	rs61732253		TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:64292121C>T	uc011kdq.2	+	2	599	c.423C>T	c.(421-423)ttC>ttT	p.F141F	ZNF138_uc003ttg.3_Silent_p.F110F|ZNF138_uc003tth.3_Non-coding_Transcript|ZNF138_uc010kzs.3_Silent_p.F135F|ZNF138_uc011kdp.2_3'UTR	NM_006524	NP_006515	B4DP87	B4DP87_HUMAN	Homo sapiens zinc finger protein 138 (ZNF138), transcript variant 1, mRNA.	141					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				ATAAACATTTCAGATGTAAAG	0.284000														28			20		0	0	0.007413	0	0
SERPINA13	388007	broad.mit.edu	37	14	95107291	95107291	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr14:95107291C>T	uc001ydt.3	+	0	230	c.142C>T	c.(142-144)Ctc>Ttc	p.L48F						Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA.											endometrium(1)|large_intestine(1)|lung(9)|skin(1)	12						CCCTCCCCTCCTCACAGCTTC	0.577000														3			6		0	0	0.001984	0	0
CCDC89	220388	broad.mit.edu	37	11	85397041	85397041	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:85397041G>A	uc001pau.1	-	0	280	c.133C>T	c.(133-135)Ctg>Ttg	p.L45L		NM_152723	NP_689936	Q8N998	CCD89_HUMAN	Homo sapiens coiled-coil domain containing 89 (CCDC89), mRNA.	45						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				GCTTCCCTCAGACCGTCCAGT	0.552000														2			22		0	0	0.001882	0	0
CA1	759	broad.mit.edu	37	8	86244770	86244770	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:86244770G>A	uc022axc.1	-	4	541	c.462C>T	c.(460-462)gcC>gcT	p.A154A	CA13_uc003ydf.1_Intron|CA1_uc003ydh.3_Silent_p.A154A|CA1_uc022axd.1_Silent_p.A154A|CA1_uc010mae.2_Silent_p.A154A|CA1_uc003ydi.3_Silent_p.A154A	NM_001164830	NP_001729	P00915	CAH1_HUMAN	Homo sapiens carbonic anhydrase I (CA1), transcript variant 5, mRNA.	154					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	GCTTTGGGTTGGCCTCACCAA	0.318000														14			23		0	0	0.006320	0	0
EPHB2	2048	broad.mit.edu	37	1	23234598	23234598	+	Silent	SNP	G	A	A	rs147014777	byFrequency	TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:23234598G>A	uc009vqj.1	+	11	2434	c.2289G>A	c.(2287-2289)tcG>tcA	p.S763S	EPHB2_uc001bge.3_Silent_p.S764S|EPHB2_uc001bgf.3_Silent_p.S763S|EPHB2_uc010odu.2_Silent_p.S705S	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	763	Protein kinase.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GCAAGGTGTCGGACTTTGGGC	0.572000														20			47		0	0	0.003610	0	0
CEACAM1	634	broad.mit.edu	37	19	43025622	43025623	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:43025622_43025623CC>TT	uc002otv.3	-	3	889_890	c.754_755GG>AA	c.(754-756)ggg>AAg	p.G252K	AK311181_uc010eif.1_Intron|AK310497_uc002ott.1_Intron|AK310497_uc010eig.1_Intron|AK310497_uc010eih.1_Intron|CEACAM1_uc010eii.3_Non-coding_Transcript|CEACAM1_uc010eij.3_Missense_Mutation_p.G252K|CEACAM1_uc002otw.3_Missense_Mutation_p.G252K|CEACAM1_uc002otx.3_Missense_Mutation_p.G252K|CEACAM1_uc002oty.3_Missense_Mutation_p.G252K|CEACAM1_uc002otz.3_Missense_Mutation_p.G252K|CEACAM1_uc010eik.3_Intron|CEACAM1_uc002oua.3_Missense_Mutation_p.G252K|CEACAM1_uc002oub.3_Missense_Mutation_p.G252K|CEACAM1_uc002ouc.3_Missense_Mutation_p.G252K	NM_001712	NP_001703	P13688	CEAM1_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 1 (biliary glycoprotein) (CEACAM1), transcript variant 1, mRNA.	252	Ig-like C2-type 2.				angiogenesis|cell migration|homophilic cell adhesion|integrin-mediated signaling pathway	extracellular region|integral to plasma membrane|membrane fraction				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	17		Prostate(69;0.00682)		GBM - Glioblastoma multiforme(486;0.00148)	Arcitumomab(DB00113)	GAGGTTTGCCCCTGGACGGTAA	0.530000														24			24		0	0	0.004672	0	0
USH2A	7399	broad.mit.edu	37	1	216017711	216017711	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:216017711G>A	uc001hku.1	-	45	9570	c.9183C>T	c.(9181-9183)ctC>ctT	p.L3061L		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3061	Fibronectin type-III 17.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.K3060N(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGTCTTGTAGAGCTTATTAT	0.393000										HNSCC(13;0.011)				34			54		0	0	0.003610	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296600	39296600	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:39296600C>T	uc010cxk.2	-	0	140	c.140G>A	c.(139-141)aGa>aAa	p.R47K		NM_030976	NP_112238	Q9BYQ5	KRA46_HUMAN	Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA.	47	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament		p.R47K(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						GCACTGGGGTCTGCAGCAGCT	0.682000														86			5		0	0	0.004482	0	0
ZNF257	113835	broad.mit.edu	37	19	22272154	22272154	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:22272154G>A	uc010ecx.3	+	3	1771	c.1602G>A	c.(1600-1602)aaG>aaA	p.K534K	ZNF257_uc010ecy.3_Silent_p.K502K	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				CCGTACATAAGAGAATTCATG	0.358000														9			4		0	0	0.000248	0	0
EPHA6	285220	broad.mit.edu	37	3	96962851	96962851	+	Silent	SNP	T	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:96962851T>A	uc010how.1	+	4	1369	c.1326T>A	c.(1324-1326)atT>atA	p.I442I	EPHA6_uc003drp.1_Silent_p.I442I	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	347	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CAGCCCTTATTTTGGAATGGA	0.408000														10			11		0	0	0.000978	0	0
NEFL	4747	broad.mit.edu	37	8	24813811	24813811	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:24813811C>T	uc003xee.3	-	0	321	c.219G>A	c.(217-219)ctG>ctA	p.L73L		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	73	Head.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CTACCTGGCTCAGGTCGAGGT	0.627000														4			7		0	0	0.003080	0	0
PDE6B	5158	broad.mit.edu	37	4	651263	651263	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr4:651263G>A	uc003gap.3	+	9	1434	c.1381G>A	c.(1381-1383)Gac>Aac	p.D461N	PDE6B_uc003gao.4_Missense_Mutation_p.D461N|PDE6B_uc011buy.2_Missense_Mutation_p.D182N|BC020343_uc003gaq.1_5'Flank	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	461					GMP metabolic process|cytosolic calcium ion homeostasis|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GTGCGACAGGGACGAGATCCA	0.617000														8			32		0	0	0.002522	0	0
DNAH11	8701	broad.mit.edu	37	7	21640510	21640511	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:21640510_21640511CC>TT	uc003svc.3	+	15	3248_3249	c.3217_3218CC>TT	c.(3217-3219)ccc>TTc	p.P1073F		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1073	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.P1073P(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGAAGAAATTCCCGAACAACCA	0.406000									Kartagener syndrome					56			55		0	0	0.004672	0	0
MDGA1	266727	broad.mit.edu	37	6	37631839	37631839	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:37631839C>T	uc003onu.1	-	1	1290	c.111G>A	c.(109-111)gtG>gtA	p.V37V		NM_153487	NP_705691	Q8NFP4	MDGA1_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 1 (MDGA1), mRNA.	37	Ig-like 1.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CCTCTTTCACCACACATGCCT	0.597000														69			46		0	0	0.003610	0	0
TCEB3	6924	broad.mit.edu	37	1	24078019	24078020	+	Silent	DNP	CC	TT	TT			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:24078019_24078020CC>TT	uc001bho.3	+	3	1062_1063	c.1002_1003CC>TT	c.(1000-1005)agcctg>agTTtg	p.334_335SL>SL		NM_003198	NP_003189	Q14241	ELOA1_HUMAN	Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.	334					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGGGCAGCAGCCTGAAGAAGAA	0.525000											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		29			15		0	0	0.004672	0	0
GPR133	283383	broad.mit.edu	37	12	131593342	131593342	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:131593342G>A	uc010tbm.2	+	18	2616	c.2057G>A	c.(2056-2058)gGg>gAg	p.G686E	GPR133_uc001uit.4_Missense_Mutation_p.G654E|GPR133_uc009zyo.3_Intron|GPR133_uc001uiv.1_Missense_Mutation_p.G173E|GPR133_uc009zyp.3_Non-coding_Transcript	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	654					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L685V(1)		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)		CTGGTGGAGGGGCTGCACCTC	0.567000														63			32		0	0	0.002836	0	0
C14orf119	55017	broad.mit.edu	37	14	23567135	23567135	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr14:23567135T>A	uc021rqv.1	+	0	268	c.268T>A	c.(268-270)Tct>Act	p.S90T	ACIN1_uc001wit.4_5'Flank|ACIN1_uc010akg.3_5'Flank|ACIN1_uc010tnj.2_5'Flank|C14orf119_uc001wiu.3_Missense_Mutation_p.S90T	NM_017924	NP_060394	Q9NWQ9	CN119_HUMAN	Homo sapiens chromosome 14 open reading frame 119 (C14orf119), mRNA.	90										central_nervous_system(1)|endometrium(1)|lung(1)	3	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00649)		CCGACCACCTTCTATCTTTGA	0.517000														81			40		0	0	0.002522	0	0
KIF4B	285643	broad.mit.edu	37	5	154393924	154393924	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:154393924G>A	uc010jih.1	+	0	665	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	169	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGATCCTAAGGAAGGCATAAA	0.418000														112			35		0	0	0.004289	0	0
CMA1	1215	broad.mit.edu	37	14	24975720	24975720	+	Silent	SNP	T	C	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr14:24975720T>C	uc001wpp.1	-	2	330	c.300A>G	c.(298-300)ccA>ccG	p.P100P	CMA1_uc010alx.1_5'UTR	NM_001836	NP_001827	P23946	CMA1_HUMAN	Homo sapiens chymase 1, mast cell (CMA1), mRNA.	100	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		TGTTATATTTTGGATGACGGA	0.428000														32			55		0	0	0.003610	0	0
FRMPD4	9758	broad.mit.edu	37	X	12734281	12734281	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:12734281C>T	uc004cuz.2	+	14	2209	c.1703C>T	c.(1702-1704)gCc>gTc	p.A568V	FRMPD4_uc011mij.2_Missense_Mutation_p.A560V	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	568					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GAACAAGAAGCCCAGATAACA	0.463000														77			64		0	0	0.003610	0	0
FBXO27	126433	broad.mit.edu	37	19	39517597	39517597	+	Silent	SNP	T	C	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:39517597T>C	uc002okh.3	-	4	703	c.621A>G	c.(619-621)caA>caG	p.Q207Q		NM_178820	NP_849142	Q8NI29	FBX27_HUMAN	Homo sapiens F-box protein 27 (FBXO27), mRNA.	207	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)			CGTCTAGAAGTTGGACGAGGA	0.557000														49			62		0	0	0.003610	0	0
AGTPBP1	23287	broad.mit.edu	37	9	88247611	88247611	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:88247611C>T	uc011lte.2	-	12	2084	c.2017G>A	c.(2017-2019)Gag>Aag	p.E673K	AGTPBP1_uc004aod.4_Missense_Mutation_p.E287K|AGTPBP1_uc011ltc.2_Missense_Mutation_p.E559K|AGTPBP1_uc011ltd.2_Missense_Mutation_p.E661K|AGTPBP1_uc010mqc.3_Missense_Mutation_p.E621K	NM_015239	NP_056054	Q9UPW5	CBPC1_HUMAN	Homo sapiens ATP/GTP binding protein 1 (AGTPBP1), mRNA.	661					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AAAATAGGCTCTTTGAATGGA	0.383000														14			11		0	0	0.001368	0	0
CACNA2D3	55799	broad.mit.edu	37	3	54914841	54914841	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:54914841C>T	uc003dhf.3	+	20	1911	c.1863C>T	c.(1861-1863)tcC>tcT	p.S621S	CACNA2D3_uc011beu.1_Non-coding_Transcript|CACNA2D3_uc003dhg.1_Silent_p.S527S|CACNA2D3_uc003dhh.1_Non-coding_Transcript|CACNA2D3_uc010hmv.1_Silent_p.S355S|AK092143_uc003dhk.1_Intron	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	621						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)		TGGCGCTTTCCAGAGGTCATG	0.453000														154			109		0	0	0.003610	0	0
PTCHD3	374308	broad.mit.edu	37	10	27702538	27702538	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:27702538G>A	uc001itu.2	-	0	760	c.642C>T	c.(640-642)gtC>gtT	p.V214V		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	214					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						CGCTGTAGGAGACCACCAGAA	0.617000														17			20		0	0	0.007413	0	0
TTC24	164118	broad.mit.edu	37	1	156555590	156555590	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:156555590G>A	uc021pbf.1	+	8	1578	c.1542G>A	c.(1540-1542)ggG>ggA	p.G514G		NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN	Homo sapiens tetratricopeptide repeat domain 24 (TTC24), mRNA.	514							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CCTGCAGAGGGACAGTCCTCG	0.517000														298			61		0	0	0.003610	0	0
KIAA1109	84162	broad.mit.edu	37	4	123160753	123160754	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr4:123160753_123160754CC>TT	uc003ieh.3	+	26	3961_3962	c.3916_3917CC>TT	c.(3916-3918)ccc>TTc	p.P1306F	KIAA1109_uc003iei.1_Missense_Mutation_p.P1059F|KIAA1109_uc010ins.1_Missense_Mutation_p.P649F|KIAA1109_uc003iek.2_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	1306					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TCTTAGATCTCCCTTGAAACGA	0.450000														5			56		0	0	0.004672	0	0
PNPLA7	375775	broad.mit.edu	37	9	140392598	140392598	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:140392598C>T	uc010ncj.1	-	16	2194	c.1857G>A	c.(1855-1857)tgG>tgA	p.W619*	PNPLA7_uc011mfa.1_Intron|PNPLA7_uc004cnf.2_Nonsense_Mutation_p.W594*	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	594					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	p.G619S(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CCACCTCCACCCAGTCCAGGG	0.627000														17			11		0	0	0.001368	0	0
HDAC9	9734	broad.mit.edu	37	7	18875586	18875586	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:18875586C>T	uc003sui.3	+	19	2691	c.2650C>T	c.(2650-2652)Ccc>Tcc	p.P884S	HDAC9_uc003sue.3_Missense_Mutation_p.P881S|HDAC9_uc003suh.3_Missense_Mutation_p.P881S|HDAC9_uc003suj.3_Missense_Mutation_p.P840S|HDAC9_uc003suk.3_Missense_Mutation_p.P129S	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	881	Histone deacetylase.				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)	CCTTGATCCTCCCATGGGAGA	0.448000														4			5		0	0	0.000602	0	0
UHRF1BP1	54887	broad.mit.edu	37	6	34826300	34826300	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:34826300C>T	uc003oju.4	+	13	2401	c.2167C>T	c.(2167-2169)Ccc>Tcc	p.P723S	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	723										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGCCCCCTTCCCCCTGTCCAT	0.542000														65			13		0	0	0.002450	0	0
CIC	23152	broad.mit.edu	37	19	42793554	42793554	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:42793554C>T	uc002otf.1	+	7	1396	c.1356C>T	c.(1354-1356)gtC>gtT	p.V452V		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ATGATGATGTCATTGGTGAGC	0.597000			"""Mis, F, S"""		oligodendroglioma									3			6		0	0	0.001168	0	0
SLC39A12	221074	broad.mit.edu	37	10	18242303	18242303	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:18242303A>T	uc001ipo.2	+	1	371	c.98A>T	c.(97-99)gAt>gTt	p.D33V	SLC39A12_uc001ipn.2_Missense_Mutation_p.D33V|SLC39A12_uc001ipp.2_Missense_Mutation_p.D33V|SLC39A12_uc010qck.1_Intron	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	33					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCAGCCCAGGATAGCAGAAGC	0.527000														30			14		0	0	0.002450	0	0
STAM	8027	broad.mit.edu	37	10	17737150	17737150	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:17737150G>A	uc001ipj.2	+	6	853	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	STAM_uc010qcf.2_Missense_Mutation_p.R102Q|STAM_uc009xjw.2_5'UTR	NM_003473	NP_003464	Q92783	STAM1_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 (STAM), transcript variant 1, mRNA.	213	SH3.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity	p.G212V(1)|p.G212D(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						CATGAAGGCCGAAAAGTTCGT	0.393000														23			20		0	0	0.007413	0	0
PSG4	5672	broad.mit.edu	37	19	43411751	43411751	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:43411751T>C	uc002ovj.1	-	3	1061	c.962A>G	c.(961-963)aAc>aGc	p.N321S	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Missense_Mutation_p.N161S|PSG4_uc002ovg.1_Missense_Mutation_p.N321S	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	322	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)				GGTGACTGGGTTACTGCGGAT	0.507000														67			29		0	0	0.003271	0	0
PCK1	5105	broad.mit.edu	37	20	56139630	56139630	+	Missense_Mutation	SNP	C	T	T	rs28359550	byFrequency	TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr20:56139630C>T	uc002xyn.4	+	7	1442	c.1279C>T	c.(1279-1281)Ccc>Tcc	p.P427S	PCK1_uc010zzm.2_Missense_Mutation_p.P110S	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	427			P -> S (in dbSNP:rs28359550).		gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	GTP binding|carboxylic acid binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GGAAGGTGTTCCCATTGAAGG	0.567000														65			71		0	0	0.003610	0	0
KRT77	374454	broad.mit.edu	37	12	53085114	53085114	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:53085114G>A	uc001saw.3	-	8	1601	c.1572C>T	c.(1570-1572)agC>agT	p.S524S	KRT77_uc009zmi.3_Silent_p.S282S	NM_175078	NP_778253	Q7Z794	K2C1B_HUMAN	Homo sapiens keratin 77 (KRT77), mRNA.	524	Tail.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						ctccgcggtagcttcttccgc	0.751000														2			5		0	0	0.000602	0	0
TUBB8	347688	broad.mit.edu	37	10	93374	93374	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:93374G>A	uc001ifi.2	-	3	958	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C		NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	Homo sapiens tubulin, beta 8 class VIII (TUBB8), transcript variant 1, mRNA.	320					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		ATGGGCATGCGACCCCTGAAA	0.522000														33			29		0	0	0.007291	0	0
CALML5	51806	broad.mit.edu	37	10	5541325	5541325	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:5541325C>T	uc001iic.2	-	0	209	c.77G>A	c.(76-78)gGc>gAc	p.G26D		NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN	Homo sapiens calmodulin-like 5 (CALML5), mRNA.	26	EF-hand 1.				epidermis development|signal transduction		calcium ion binding|protein binding	p.N25S(1)		biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						ATTGATGGTGCCGTTTCCATC	0.627000														36			23		0	0	0.003954	0	0
LIMD1	8994	broad.mit.edu	37	3	45637070	45637071	+	Silent	DNP	CC	TT	TT			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:45637070_45637071CC>TT	uc003coq.3	+	0	748_749	c.699_700CC>TT	c.(697-702)tccctg>tcTTtg	p.233_234SL>SL		NM_014240	NP_055055	Q9UGP4	LIMD1_HUMAN	Homo sapiens LIM domains containing 1 (LIMD1), mRNA.	233					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	RNA-induced silencing complex|cytoplasmic mRNA processing body|nucleus	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GACAGCTCTCCCTGAGCTCCAG	0.629000														37			35		0	0	0.004672	0	0
PPTC7	160760	broad.mit.edu	37	12	110989648	110989648	+	Nonsense_Mutation	SNP	C	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:110989648C>A	uc001trh.1	-	1	577	c.349G>T	c.(349-351)Gga>Tga	p.G117*		NM_139283	NP_644812	Q8NI37	PPTC7_HUMAN	Homo sapiens PTC7 protein phosphatase homolog (S. cerevisiae) (PPTC7), mRNA.	117	PP2C-like.						metal ion binding|phosphoprotein phosphatase activity			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						GTGAGAATTCCAATGGGATTA	0.433000														29			49		7.22619e-39	1.07822e-38	0.003610	1	0
FRMPD1	22844	broad.mit.edu	37	9	37729760	37729760	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:37729760C>T	uc004aag.1	+	7	692	c.648C>T	c.(646-648)atC>atT	p.I216I	FRMPD1_uc004aah.1_Silent_p.I216I|FRMPD1_uc011lqm.2_Silent_p.I38I|FRMPD1_uc011lqn.2_Silent_p.I85I	NM_014907	NP_055722	Q5SYB0	FRPD1_HUMAN	Homo sapiens FERM and PDZ domain containing 1 (FRMPD1), mRNA.	216	FERM.					cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		AGCTGTCCATCCGAAGTATCG	0.562000														29			48		0	0	0.003610	0	0
MST1P2	11209	broad.mit.edu	37	1	16974662	16974662	+	RNA	SNP	C	A	A	rs28460410	by1000genomes	TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:16974662C>A	uc010och.2	+	6		c.1122C>A			MST1P2_uc001azk.2_Non-coding_Transcript|MST1P2_uc009vox.3_Non-coding_Transcript|MST1P2_uc001azm.4_Non-coding_Transcript					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 2 (MST1P2), non-coding RNA.																		GCTACCAGATCCGGCGTTGTA	0.692000														51			5		0.00116845	0.00169373	0.001168	1	0
KRT10	3858	broad.mit.edu	37	17	38978795	38978795	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:38978795G>A	uc002hvi.3	-	0	69	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	TMEM99_uc021txc.1_Intron|TMEM99_uc002hvj.1_Intron|TMEM99_uc021txd.1_Intron	NM_000421	NP_000412	P13645	K1C10_HUMAN	Homo sapiens keratin 10 (KRT10), mRNA.	15	Head.				epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				cctccACTGCGGGAGGAAGAG	0.527000														22			31		0	0	0.008361	0	0
YPEL2	388403	broad.mit.edu	37	17	57430800	57430801	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:57430800_57430801CC>TT	uc002ixm.1	+	1	358_359	c.30_31CC>TT	c.(28-33)ttccag>ttTTag	p.Q11*	YPEL2_uc002ixl.1_Nonsense_Mutation_p.Q11*	NM_001005404	NP_001005404	Q96QA6	YPEL2_HUMAN	Homo sapiens yippee-like 2 (Drosophila) (YPEL2), mRNA.	11						nucleolus				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CGAAGACTTTCCAGGCATATCT	0.545000														44			54		0	0	0.004672	0	0
OR2G3	81469	broad.mit.edu	37	1	247769226	247769226	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:247769226C>T	uc010pyz.2	+	0	339	c.339C>T	c.(337-339)atC>atT	p.I113I		NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 3 (OR2G3), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTGAATGTATCCTCTTGGCTG	0.488000														97			172		0	0	0.003610	0	0
ACRBP	84519	broad.mit.edu	37	12	6753341	6753341	+	Nonsense_Mutation	SNP	A	C	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:6753341A>C	uc001qpu.1	-	4	954	c.906T>G	c.(904-906)taT>taG	p.Y302*	ACRBP_uc010sfg.1_Nonsense_Mutation_p.Y269*	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN	Homo sapiens acrosin binding protein (ACRBP), mRNA.	302						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						AGTTCTCATCATATATTTCAT	0.468000														54			36		0	0	0.006999	0	0
ST14	6768	broad.mit.edu	37	11	130060463	130060463	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:130060463G>A	uc001qfw.3	+	6	942	c.749G>A	c.(748-750)gGg>gAg	p.G250E	ST14_uc010sca.1_Missense_Mutation_p.G60E	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	250	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCCCTGCGGGGGGACGCCGAC	0.697000														2			13		0	0	0.003163	0	0
PGGT1B	5229	broad.mit.edu	37	5	114566678	114566678	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:114566678G>A	uc003kqw.4	-	5	674	c.653C>T	c.(652-654)tCt>tTt	p.S218F	PGGT1B_uc010jch.3_Intron	NM_005023	NP_005014	P53609	PGTB1_HUMAN	Homo sapiens protein geranylgeranyltransferase type I, beta subunit (PGGT1B), mRNA.	218					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	CTTACCATGAGATTCAAGTCC	0.338000														16			23		0	0	0.001786	0	0
CEACAM18	729767	broad.mit.edu	37	19	51984693	51984693	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:51984693G>A	uc002pwv.1	+	3	630	c.630G>A	c.(628-630)gtG>gtA	p.V210V		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	210						integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCTCCCTGGTGGAGAACATGG	0.502000														33			17		0	0	0.004990	0	0
DLC1	10395	broad.mit.edu	37	8	12957028	12957029	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:12957028_12957029CC>TT	uc003wwm.2	-	8	3261_3262	c.2817_2818GG>AA	c.(2815-2820)tcggtc>tcAAtc	p.V940I	DLC1_uc003wwk.1_Missense_Mutation_p.V503I|DLC1_uc003wwl.1_Missense_Mutation_p.V537I|DLC1_uc011kxx.1_Missense_Mutation_p.V429I	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	940					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of Rho protein signal transduction|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CAGGGAGAGACCGAGTCCAGGG	0.559000														26			18		0	0	0.004672	0	0
ITGA2B	3674	broad.mit.edu	37	17	42449774	42449774	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:42449774C>T	uc002igt.1	-	29	3110	c.3078G>A	c.(3076-3078)cgG>cgA	p.R1026R		NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	1026			R -> Q (in GT).		axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	GTGGCCGGTTCCGCTTGAAGA	0.577000														17			14		0	0	0.002450	0	0
GLMN	11146	broad.mit.edu	37	1	92752119	92752119	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:92752119C>T	uc001dor.3	-	6	778	c.663G>A	c.(661-663)ctG>ctA	p.L221L	GLMN_uc009wdg.3_Non-coding_Transcript|GLMN_uc001dos.3_Silent_p.L221L	NM_053274	NP_444504	Q92990	GLMN_HUMAN	Homo sapiens glomulin, FKBP associated protein (GLMN), mRNA.	221					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		ATTGTGCTGTCAGCAAAGGGC	0.338000									Multiple Glomus Tumors (of the Skin), Familial					26			29		0	0	0.002445	0	0
COCH	1690	broad.mit.edu	37	14	31354821	31354821	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr14:31354821G>A	uc001wqr.2	+	9	1035	c.955G>A	c.(955-957)Gac>Aac	p.D319N	COCH_uc001wqp.2_Missense_Mutation_p.D319N|COCH_uc001wqq.4_Missense_Mutation_p.D319N|LOC100506071_uc001wqs.3_Non-coding_Transcript|COCH_uc001wqt.1_Missense_Mutation_p.D170N	NM_004086	NP_004077	O43405	COCH_HUMAN	Homo sapiens coagulation factor C homolog, cochlin (Limulus polyphemus) (COCH), transcript variant 2, mRNA.	319	VWFA 1.				sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		CACATTTGTTGACAAGGTAAA	0.438000														8			15		0	0	0.003163	0	0
DDHD2	23259	broad.mit.edu	37	8	38099838	38099838	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:38099838G>A	uc003xlc.3	+	6	983	c.783G>A	c.(781-783)caG>caA	p.Q261Q	DDHD2_uc003xlb.3_Silent_p.Q261Q|DDHD2_uc011lbl.1_Silent_p.Q73Q	NM_001164232	NP_056029	O94830	DDHD2_HUMAN	Homo sapiens DDHD domain containing 2 (DDHD2), transcript variant 2, mRNA.	261					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AAAATCAGCAGATTGGGAGGG	0.388000														19			6		0	0	0.001168	0	0
ACSBG2	81616	broad.mit.edu	37	19	6165878	6165878	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:6165878G>A	uc002mef.1	+	7	816	c.589_splice	c.e7-1	p.W197_splice	ACSBG2_uc002mee.1_Splice_Site_p.W10_splice|ACSBG2_uc002meg.1_Splice_Site_p.W197_splice|ACSBG2_uc002meh.1_Splice_Site_p.W197_splice|ACSBG2_uc002mei.1_Splice_Site_p.W147_splice|ACSBG2_uc010xiz.1_Splice_Site_p.W197_splice	NM_030924	NP_112186	Q5FVE4	ACBG2_HUMAN	Homo sapiens acyl-CoA synthetase bubblegum family member 2 (ACSBG2), mRNA.	197					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	ATP binding|acyl-CoA thioesterase activity|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTCCACAGTGGGATGATTTC	0.517000											OREG0025194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		33			9		0	0	0.006214	0	0
EYA1	2138	broad.mit.edu	37	8	72184058	72184058	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:72184058C>A	uc003xyu.3	-	9	1541	c.901G>T	c.(901-903)Ggg>Tgg	p.G301W	EYA1_uc003xyt.4_Missense_Mutation_p.G268W|EYA1_uc003xyr.4_Missense_Mutation_p.G296W|EYA1_uc010lzf.3_Missense_Mutation_p.G228W|EYA1_uc003xys.4_Missense_Mutation_p.G301W|EYA1_uc011lfe.2_Missense_Mutation_p.G295W|EYA1_uc003xyv.3_Missense_Mutation_p.G179W	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	301					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.G301W(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			CGTGATTTCCCATCTGAACCT	0.468000														72			47		3.54909e-21	5.23649e-21	0.002852	1	0
WRN	7486	broad.mit.edu	37	8	31014939	31014939	+	Missense_Mutation	SNP	C	T	T	rs142614369	byFrequency	TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:31014939C>T	uc003xio.4	+	32	4663	c.3875C>T	c.(3874-3876)tCc>tTc	p.S1292F	WRN_uc010lvk.3_Missense_Mutation_p.S759F	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	1292					DNA recombination|DNA synthesis involved in DNA repair|base-excision repair|cellular response to starvation|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to UV-C|response to oxidative stress|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|G-quadruplex DNA binding|Y-form DNA binding|bubble DNA binding|four-way junction helicase activity|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ATGCACTTATCCCAAGCGGTG	0.498000			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome					16			23		0	0	0.002780	0	0
DSCAM	1826	broad.mit.edu	37	21	41514628	41514628	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr21:41514628G>A	uc002yyq.1	-	17	3715	c.3263C>T	c.(3262-3264)cCc>cTc	p.P1088L	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.	1088	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGGGTAACTGGGCACTGAAAT	0.388000														34			62		0	0	0.003610	0	0
LIPI	149998	broad.mit.edu	37	21	15538740	15538740	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr21:15538740C>T	uc002yjm.3	-	4	749	c.739G>A	c.(739-741)Gat>Aat	p.D247N	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Intron|LIPI_uc021whh.1_Missense_Mutation_p.D226N|LIPI_uc021whi.1_Missense_Mutation_p.D61N|LIPI_uc021whj.1_Missense_Mutation_p.D226N|LIPI_uc021whe.1_Missense_Mutation_p.D226N|LIPI_uc021whf.1_Missense_Mutation_p.D226N	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	226					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		GGATAAAAATCTATATGTCCC	0.343000														52			24		0	0	0.004656	0	0
PLCG2	5336	broad.mit.edu	37	16	81957190	81957190	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:81957190C>G	uc002fgt.3	+	21	2586	c.2408C>G	c.(2407-2409)cCc>cGc	p.P803R		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	803	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TCCAAGGAGCCCGGGGGCTGG	0.582000														23			8		0	0	0.004482	0	0
ATP7A	538	broad.mit.edu	37	X	77244063	77244063	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:77244063A>G	uc004ecx.4	+	2	606	c.446A>G	c.(445-447)gAt>gGt	p.D149G	ATP7A_uc004ecw.2_Missense_Mutation_p.D149G	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	149					ATP biosynthetic process|T-helper cell differentiation|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CTCAGTTTAGATACTGGGACA	0.418000														156			59		0	0	0.003610	0	0
RGPD5	84220	broad.mit.edu	37	2	113147106	113147106	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:113147106C>T	uc002ths.2	-	19	3608	c.3416G>A	c.(3415-3417)gGt>gAt	p.G1139D	RGPD5_uc010fkk.2_Missense_Mutation_p.G999D|RGPD5_uc002tht.1_Missense_Mutation_p.G390D	NM_005054	NP_001157935	Q99666	RGPD5_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 5 (RGPD5), transcript variant 1, mRNA.	1139	RanBD1 1.				intracellular transport	cytoplasm	binding			central_nervous_system(1)	1						TTTGGCATCACCATCAGAGAA	0.453000														222			71		0	0	0.003610	0	0
XIRP2	129446	broad.mit.edu	37	2	168105182	168105182	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:168105182C>T	uc002udx.3	+	8	7369	c.7280C>T	c.(7279-7281)cCc>cTc	p.P2427L	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.P2252L|XIRP2_uc010fpq.3_Missense_Mutation_p.P2205L|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2252					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						TTGCCCAAACCCAAACTTCCC	0.408000														51			57		0	0	0.003610	0	0
FAM184A	79632	broad.mit.edu	37	6	119341322	119341322	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:119341322G>A	uc003pyj.3	-	3	1501	c.1153C>T	c.(1153-1155)Cat>Tat	p.H385Y	FAM184A_uc003pyk.4_Missense_Mutation_p.H265Y|FAM184A_uc003pyl.4_Missense_Mutation_p.H265Y	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	385										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						ATTCCAATATGACCTATCCCC	0.308000														3			21		0	0	0.001882	0	0
TEFM	79736	broad.mit.edu	37	17	29231456	29231456	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:29231456C>T	uc002hfu.2	-	1	193	c.123G>A	c.(121-123)aaG>aaA	p.K41K	TEFM_uc002hfv.2_Non-coding_Transcript|TEFM_uc002hfw.2_Silent_p.K41K|TEFM_uc010wbs.1_Silent_p.K41K	NM_024683	NP_078959	Q96QE5	TEFM_HUMAN	Homo sapiens transcription elongation factor, mitochondrial (TEFM), nuclear gene encoding mitochondrial protein, mRNA.	41					oxidative phosphorylation|regulation of transcription, DNA-dependent|transcription from mitochondrial promoter	mitochondrial nucleoid|ribonucleoprotein complex	DNA polymerase processivity factor activity|nucleic acid binding|protein binding										GAGTAATTTTCTTAGGTGTAG	0.443000														53			16		0	0	0.003163	0	0
APLNR	187	broad.mit.edu	37	11	57003368	57003368	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:57003368G>A	uc001njo.3	-	0	1560	c.1111C>T	c.(1111-1113)Ccc>Tcc	p.P371S	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	371						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGGCTGTAGGGGATGGATTTC	0.622000														22			28		0	0	0.007291	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140730571	140730572	+	Nonsense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:140730571_140730572CC>TT	uc003ljo.2	+	0	744_745	c.744_745CC>TT	c.(742-747)ctccaa>ctTTaa	p.Q249*	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Nonsense_Mutation_p.Q249*	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	252	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R248H(1)|p.R248R(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTTAGCCTCCAAGAAAACGT	0.554000														26			42		0	0	0.004672	0	0
CDCA4	55038	broad.mit.edu	37	14	105477609	105477609	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr14:105477609G>A	uc021sep.1	-	0	658	c.658C>T	c.(658-660)Cct>Tct	p.P220S	CDCA4_uc001yqa.2_Missense_Mutation_p.P220S|CDCA4_uc001yqb.2_Missense_Mutation_p.P220S	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	Homo sapiens cell division cycle associated 4 (CDCA4), transcript variant 2, mRNA.	220						nucleus				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		CTGGAGCTAGGGCCTGGGGTG	0.677000														19			8		0	0	0.003080	0	0
SLC45A2	51151	broad.mit.edu	37	5	33964076	33964076	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:33964076G>A	uc003jid.3	-	2	700	c.608C>T	c.(607-609)gCc>gTc	p.A203V	SLC45A2_uc003jie.3_Missense_Mutation_p.A203V|SLC45A2_uc003jif.4_Intron|SLC45A2_uc011coe.1_Intron	NM_016180	NP_057264	Q9UMX9	S45A2_HUMAN	Homo sapiens solute carrier family 45, member 2 (SLC45A2), transcript variant 1, mRNA.	203					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CTCCAGATGGGCCCAGTCTAT	0.443000														24			19		0	0	0.001882	0	0
JAK2	3717	broad.mit.edu	37	9	5123074	5123074	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:5123074C>T	uc010mhm.3	+	21	3243	c.3130C>T	c.(3130-3132)Ctg>Ttg	p.L1044L	JAK2_uc003ziw.3_Silent_p.L1044L	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	1044	Protein kinase 2.				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding	p.V1043V(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TGGAGTGGTTCTGTATGAACT	0.358000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial					17			21		0	0	0.001882	0	0
ANKRD11	29123	broad.mit.edu	37	16	89347188	89347188	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:89347188G>A	uc002fmx.1	-	8	6223	c.5762C>T	c.(5761-5763)gCc>gTc	p.A1921V	ANKRD11_uc002fmy.1_Missense_Mutation_p.A1921V|ANKRD11_uc002fnc.1_Missense_Mutation_p.A1921V|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Missense_Mutation_p.A1878V	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1921	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GATGATGGCGGCCGTCGCCTG	0.697000														19			28		0	0	0.007291	0	0
ATF7IP	55729	broad.mit.edu	37	12	14578384	14578384	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:14578384C>T	uc001rbw.3	+	1	1693	c.1535C>T	c.(1534-1536)tCg>tTg	p.S512L	ATF7IP_uc010shs.1_Missense_Mutation_p.S512L|ATF7IP_uc001rbu.3_Missense_Mutation_p.S512L|ATF7IP_uc001rbv.1_Missense_Mutation_p.S512L|ATF7IP_uc001rbx.3_Missense_Mutation_p.S512L|ATF7IP_uc010sht.1_Missense_Mutation_p.S512L|ATF7IP_uc001rby.4_Missense_Mutation_p.S512L|ATF7IP_uc001rbz.1_Missense_Mutation_p.S512L|ATF7IP_uc001rca.3_Missense_Mutation_p.S512L|ATF7IP_uc001rcb.3_Missense_Mutation_p.S123L	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	512	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GAAGTTATATCGCAAAATGAA	0.323000														26			29		0	0	0.005443	0	0
FBRS	64319	broad.mit.edu	37	16	30679963	30679963	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:30679963C>T	uc002dzd.4	+	10	861	c.598_splice	c.e10+1	p.N200_splice	FBRS_uc002dzc.4_Splice_Site_p.N112_splice	NM_001105079	NP_001098549	Q9HAH7	FBRS_HUMAN	Homo sapiens fibrosin (FBRS), mRNA.	200										ovary(1)	1			Colorectal(24;0.103)			GCCCCACATTCAGTGAGTGCG	0.677000														72			15		0	0	0.004990	0	0
SLC44A5	204962	broad.mit.edu	37	1	75740649	75740649	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:75740649G>A	uc010oqz.1	-	4	437	c.371C>T	c.(370-372)cCc>cTc	p.P124L	SLC44A5_uc001dgt.2_Missense_Mutation_p.P85L|SLC44A5_uc001dgs.2_Missense_Mutation_p.P43L|SLC44A5_uc001dgr.2_Missense_Mutation_p.P43L|SLC44A5_uc001dgu.3_Missense_Mutation_p.P85L|SLC44A5_uc010ora.2_Missense_Mutation_p.P79L|SLC44A5_uc010orb.2_Intron	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	85						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TCACTCATTGGGAGTGCCCTT	0.478000														12			31		0	0	0.003755	0	0
DYRK4	8798	broad.mit.edu	37	12	4721873	4721873	+	Missense_Mutation	SNP	C	T	T	rs141423818	by1000genomes	TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:4721873C>T	uc009zeh.1	+	13	1697	c.1655C>T	c.(1654-1656)tCg>tTg	p.S552L	DYRK4_uc001qmx.3_Missense_Mutation_p.S437L|DYRK4_uc001qmy.2_Missense_Mutation_p.S437L|DYRK4_uc021qtq.1_Missense_Mutation_p.S291L|DYRK4_uc001qmz.2_Missense_Mutation_p.S151L|DYRK4_uc001qna.2_Missense_Mutation_p.S74L|DYRK4_uc010ser.2_Missense_Mutation_p.S74L	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	437						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			TGTCATCACTCGAGCAGAAAA	0.468000														41			45		0	0	0.003610	0	0
BCAT1	586	broad.mit.edu	37	12	24970974	24970974	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:24970974C>G	uc001rgd.4	-	10	1656	c.1129G>C	c.(1129-1131)Gaa>Caa	p.E377Q	BCAT1_uc001rgc.3_Missense_Mutation_p.E376Q|BCAT1_uc010six.2_Missense_Mutation_p.E389Q|BCAT1_uc010siy.2_Missense_Mutation_p.E340Q|BCAT1_uc001rge.4_Missense_Mutation_p.E316Q	NM_005504	NP_005495	P54687	BCAT1_HUMAN	Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 1, mRNA.	377					G1/S transition of mitotic cell cycle|branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	TCGCTCTCTTCTCTTCCATAC	0.408000														23			40		0	0	0.002222	0	0
TBC1D7	51256	broad.mit.edu	37	6	13306733	13306733	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:13306733G>A	uc003naj.3	-	6	800	c.692C>T	c.(691-693)tCc>tTc	p.S231F	TBC1D7_uc011dis.2_Intron|TBC1D7_uc003nal.3_Missense_Mutation_p.S231F|TBC1D7_uc003nan.3_Missense_Mutation_p.S231F|TBC1D7_uc003nam.3_Missense_Mutation_p.S231F|TBC1D7_uc003nao.3_Missense_Mutation_p.S204F|TBC1D7_uc010jpd.3_Missense_Mutation_p.S185F	NM_016495	NP_057579	Q9P0N9	TBCD7_HUMAN	Homo sapiens TBC1 domain family, member 7 (TBC1D7), transcript variant 1, mRNA.	231	Rab-GAP TBC.				positive regulation of protein ubiquitination	cytoplasmic membrane-bounded vesicle	Rab GTPase activator activity|protein binding			breast(1)|endometrium(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)	22	Breast(50;0.0296)|Ovarian(93;0.0339)	all_hematologic(90;0.135)	Epithelial(50;0.0784)|BRCA - Breast invasive adenocarcinoma(129;0.13)|all cancers(50;0.21)			GATCTTACAGGATCCACTCAC	0.313000														77			66		0	0	0.003610	0	0
TNR	7143	broad.mit.edu	37	1	175360466	175360466	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:175360466C>T	uc001gkp.1	-	4	1546	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	TNR_uc009wwu.1_Missense_Mutation_p.E489K	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	489	Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGGGCCTGTTCTTTCAGAGCC	0.562000														85			41		0	0	0.003610	0	0
DOCK7	85440	broad.mit.edu	37	1	63099247	63099247	+	Silent	SNP	T	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:63099247T>A	uc001daq.3	-	9	1072	c.1038A>T	c.(1036-1038)ctA>ctT	p.L346L	DOCK7_uc001dan.3_Silent_p.L238L|DOCK7_uc001dao.3_Silent_p.L238L|DOCK7_uc001dap.3_Silent_p.L346L|DOCK7_uc009wah.1_Silent_p.L346L	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	346					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|Rac GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GGACTTTTTCTAGCTGTCAAA	0.343000														108			44		0	0	0.003214	0	0
APOBEC1	339	broad.mit.edu	37	12	7805422	7805422	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:7805422G>A	uc001qtb.3	-	2	88	c.54C>T	c.(52-54)atC>atT	p.I18I	APOBEC1_uc001qtc.3_5'UTR	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	18					DNA demethylation|cytidine to uridine editing|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	RNA binding|cytidine deaminase activity|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CCCAGGGTTCGATTCTTCTCC	0.448000														38			34		0	0	0.004878	0	0
PDE11A	50940	broad.mit.edu	37	2	178704997	178704997	+	Missense_Mutation	SNP	T	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:178704997T>A	uc002ulq.3	-	5	1799	c.1481A>T	c.(1480-1482)gAt>gTt	p.D494V	PDE11A_uc002ulp.3_Missense_Mutation_p.D50V|PDE11A_uc002ulr.3_Missense_Mutation_p.D244V|PDE11A_uc002uls.1_Missense_Mutation_p.D136V|PDE11A_uc002ult.1_Missense_Mutation_p.D244V|PDE11A_uc002ulu.1_Missense_Mutation_p.D136V	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	494	GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.D494N(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			AAAGCGCGGATCCTGGTAGGC	0.453000									Primary Pigmented Nodular Adrenocortical Disease, Familial					17			23		0	0	0.002299	0	0
PCMTD1	115294	broad.mit.edu	37	8	52733192	52733192	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:52733192C>T	uc003xqx.4	-	5	1134	c.793G>A	c.(793-795)Gcc>Acc	p.A265T	PCMTD1_uc011ldm.2_Missense_Mutation_p.A135T|PCMTD1_uc011ldn.2_Missense_Mutation_p.A77T|PCMTD1_uc010lya.3_Missense_Mutation_p.A189T	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	265						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.A265A(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				ATCCCCTTGGCCTGCATCTCA	0.408000														68			5		0	0	0.001168	0	0
RPS6KA2	6196	broad.mit.edu	37	6	166923792	166923792	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:166923792G>A	uc003qvd.1	-	5	540	c.427C>T	c.(427-429)Cac>Tac	p.H143Y	RPS6KA2_uc011ego.1_Missense_Mutation_p.H29Y|RPS6KA2_uc010kkl.1_Missense_Mutation_p.H29Y|RPS6KA2_uc003qvb.1_Missense_Mutation_p.H118Y|RPS6KA2_uc003qvc.1_Missense_Mutation_p.H126Y|MIR1913_uc021zig.1_5'Flank	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.	118	Protein kinase 1.				MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|axon guidance|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		ATGAAGGGGTGATTCACTTCT	0.413000														5			28		0	0	0.001786	0	0
FLNA	2316	broad.mit.edu	37	X	153595894	153595894	+	Missense_Mutation	SNP	T	C	C			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:153595894T>C	uc004fkk.2	-	4	988	c.739A>G	c.(739-741)Att>Gtt	p.I247V	FLNA_uc010nuu.1_Missense_Mutation_p.I247V	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	247	Actin-binding.|CH 2.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	Fc-gamma receptor I complex binding|GTP-Ral binding|Rac GTPase binding|actin filament binding|glycoprotein binding|protein homodimerization activity|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGGTCCACAATCTCCTCGGGG	0.612000														91			27		0	0	0.006320	0	0
CHL1	10752	broad.mit.edu	37	3	423920	423920	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:423920G>A	uc003bot.3	+	16	2577	c.1935G>A	c.(1933-1935)cgG>cgA	p.R645R	CHL1_uc003bou.3_Silent_p.R629R|CHL1_uc003bow.2_Silent_p.R629R|CHL1_uc011asi.2_Silent_p.R645R|BC065754_uc003box.1_Intron	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.	629	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.R645Q(1)		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)		GGAGTGTTCGGCTGACCTGGG	0.408000														50			40		0	0	0.003610	0	0
ASS1	445	broad.mit.edu	37	9	133355773	133355773	+	Splice_Site	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:133355773G>A	uc010mza.3	+	12	1510	c.1002_splice	c.e12-1	p.A334_splice	ASS1_uc004bzm.3_Splice_Site_p.A258_splice|ASS1_uc004bzn.3_Splice_Site_p.A258_splice	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	258					arginine biosynthetic process|urea cycle	cytosol	ATP binding|argininosuccinate synthase activity|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TTCCCACAGGGGCAAGCATGG	0.622000														18			16		0	0	0.004990	0	0
OR5D13	390142	broad.mit.edu	37	11	55541105	55541105	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:55541105C>T	uc010ril.2	+	0	192	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F64_L65>LI(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGTGCTTTTTCCTTAGTCACT	0.398000														53			20		0	0	0.001523	0	0
LYPLAL1	127018	broad.mit.edu	37	1	219366544	219366544	+	Missense_Mutation	SNP	G	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:219366544G>T	uc001hlq.4	+	2	353	c.312G>T	c.(310-312)ttG>ttT	p.L104F	LYPLAL1_uc001hlr.4_Missense_Mutation_p.L88F|LYPLAL1_uc001hls.4_Intron|LYPLAL1_uc001hlt.4_Intron|LYPLAL1_uc009xds.3_Intron	NM_138794	NP_620149	Q5VWZ2	LYPL1_HUMAN	Homo sapiens lysophospholipase-like 1 (LYPLAL1), mRNA.	104						cytoplasm	lysophospholipase activity			large_intestine(1)|lung(5)	6				GBM - Glioblastoma multiforme(131;0.055)|all cancers(67;0.105)|OV - Ovarian serous cystadenocarcinoma(81;0.116)		TTACTGATTTGATTGATGAAG	0.338000														21			50		1.22102e-19	1.79753e-19	0.003610	1	0
SST	6750	broad.mit.edu	37	3	187387014	187387014	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:187387014C>T	uc003frn.3	-	1	312	c.190G>A	c.(190-192)Gag>Aag	p.E64K		NM_001048	NP_001039	P61278	SMS_HUMAN	Homo sapiens somatostatin (SST), mRNA.	64					G-protein coupled receptor protein signaling pathway|digestion|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity	p.T63T(2)		kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	GCATCATTCTCCGTCTGGTTG	0.522000														164			114		0	0	0.003610	0	0
TXLNA	200081	broad.mit.edu	37	1	32650174	32650174	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:32650174C>T	uc001bui.3	+	3	619	c.554C>T	c.(553-555)cCa>cTa	p.P185L	TXLNA_uc001buj.3_Missense_Mutation_p.P185L	NM_175852	NP_787048	P40222	TXLNA_HUMAN	Homo sapiens taxilin alpha (TXLNA), mRNA.	185					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CTGAGTACCCCAGAGGAGAAG	0.552000														87			29		0	0	0.004289	0	0
MSANTD3-TMEFF1	100526694	broad.mit.edu	37	9	103204520	103204520	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:103204520C>T	uc004bay.2	+	0	333	c.300C>T	c.(298-300)ctC>ctT	p.L100L	MSANTD3-TMEFF1_uc022bkz.1_Silent_p.L100L|MSANTD3-TMEFF1_uc004baw.3_Silent_p.L100L|MSANTD3-TMEFF1_uc022bla.1_Silent_p.L100L|MSANTD3-TMEFF1_uc022blb.1_Silent_p.L100L|MSANTD3-TMEFF1_uc004bax.3_Non-coding_Transcript	NM_001198812	NP_001185741	Q8IYR6	TEFF1_HUMAN	Homo sapiens C9orf30-TMEFF1 readthrough (C9orf30-TMEFF1), mRNA.	0	Kazal-like 1.				multicellular organismal development	integral to membrane|plasma membrane											TCAGCCCTCTCCTGAGTACCC	0.557000														10			15		0	0	0.004007	0	0
CYFIP1	23191	broad.mit.edu	37	15	22969284	22969285	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:22969284_22969285GG>AA	uc001yus.3	+	21	2614_2615	c.2510_2511GG>AA	c.(2509-2511)ggg>gAA	p.G837E	CYFIP1_uc001yut.3_Missense_Mutation_p.G837E|CYFIP1_uc010aya.1_Missense_Mutation_p.G865E|CYFIP1_uc001yuu.3_Missense_Mutation_p.G406E|CYFIP1_uc001yuv.3_Missense_Mutation_p.G31E	NM_014608	NP_055423	Q7L576	CYFP1_HUMAN	Homo sapiens cytoplasmic FMR1 interacting protein 1 (CYFIP1), transcript variant 1, mRNA.	837					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	Rac GTPase binding|actin filament binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCGCCCTACGGGAGGATCACCC	0.614000														59			16		0	0	0.004672	0	0
OR13C9	286362	broad.mit.edu	37	9	107380042	107380042	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:107380042G>A	uc011lvr.2	-	0	444	c.444C>T	c.(442-444)tcC>tcT	p.S148S		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G147G(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						CTGCAAACCAGGACCCAACAG	0.448000														21			17		0	0	0.007413	0	0
C3orf23	285343	broad.mit.edu	37	3	44434432	44434432	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:44434432G>A	uc003cnd.4	+	5	1085	c.658G>A	c.(658-660)Gat>Aat	p.D220N	C3orf23_uc010him.3_Missense_Mutation_p.D220N|C3orf23_uc003cne.4_Missense_Mutation_p.D76N	NM_173826	NP_776187	Q8N3R3	CC023_HUMAN	Homo sapiens chromosome 3 open reading frame 23 (C3orf23), transcript variant 1, mRNA.	220						mitochondrion				breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TCGTTTAAAAGATGAACTGTC	0.333000														63			40		0	0	0.007835	0	0
THOC2	57187	broad.mit.edu	37	X	122778637	122778637	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:122778637G>A	uc004etu.3	-	13	1584	c.1552C>T	c.(1552-1554)Cag>Tag	p.Q518*	THOC2_uc011muh.1_Nonsense_Mutation_p.Q439*|THOC2_uc011mui.1_Nonsense_Mutation_p.Q403*	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	518					RNA splicing|intronless viral mRNA export from host nucleus|mRNA processing	THO complex part of transcription export complex	RNA binding|protein binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TACCTATGCTGATATGGAAAT	0.318000														34			23		0	0	0.003954	0	0
NFE2	4778	broad.mit.edu	37	12	54686206	54686206	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:54686206C>T	uc009znk.3	-	1	1584	c.1074G>A	c.(1072-1074)ggG>ggA	p.G358G	NFE2_uc001sfq.3_Silent_p.G358G|NFE2_uc001sfr.4_Silent_p.G358G|NFE2_uc009znl.3_Silent_p.G358G	NM_006163	NP_006154	Q16621	NFE2_HUMAN	Homo sapiens nuclear factor (erythroid-derived 2), 45kDa (NFE2), transcript variant 1, mRNA.	358					blood circulation|blood coagulation|multicellular organismal development|nucleosome disassembly|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	PML body|actin cytoskeleton|cytoplasm	WW domain binding|protein N-terminus binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(7)|upper_aerodigestive_tract(2)	16						GGAAGATGGTCCCATCGGCAG	0.567000														32			10		0	0	0.006214	0	0
SPRR4	163778	broad.mit.edu	37	1	152944577	152944577	+	Nonsense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:152944577C>T	uc001fav.1	+	1	274	c.211C>T	c.(211-213)Cag>Tag	p.Q71*	SPRR4_uc021ozm.1_Nonsense_Mutation_p.Q71*	NM_173080	NP_775103	Q96PI1	SPRR4_HUMAN	Homo sapiens small proline-rich protein 4 (SPRR4), mRNA.	71	Gln-rich.				keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCCTCAGCCCAGCAAGCCTC	0.522000														200			35		0	0	0.002836	0	0
VWA5A	4013	broad.mit.edu	37	11	124016071	124016071	+	Splice_Site	SNP	G	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:124016071G>T	uc001pzu.3	+	18	2490	c.2281_splice	c.e18+1	p.G761_splice	VWA5A_uc001pzt.3_Splice_Site_p.G761_splice	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	761										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						GCCCATGCAGGTAGGAGCACA	0.577000														37			15		6.31663e-08	9.23737e-08	0.003163	1	0
MYO1F	4542	broad.mit.edu	37	19	8610596	8610597	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:8610596_8610597GG>AA	uc002mkg.3	-	12	1431_1432	c.1293_1294CC>TT	c.(1291-1296)atccgc>atTTgc	p.R432C		NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	432	Myosin head-like.					unconventional myosin complex	ATP binding|actin binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGAGTCCAGCGGATGCCTTCCT	0.574000														66			116		0	0	0.004672	0	0
POGZ	23126	broad.mit.edu	37	1	151395903	151395903	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:151395903C>T	uc001eyd.2	-	9	1963	c.1648G>A	c.(1648-1650)Gaa>Aaa	p.E550K	POGZ_uc021oyq.1_Missense_Mutation_p.E497K|POGZ_uc010pdb.2_Missense_Mutation_p.E541K|POGZ_uc010pdc.2_Missense_Mutation_p.E488K|POGZ_uc009wmv.2_Missense_Mutation_p.E455K|POGZ_uc001eyf.2_Missense_Mutation_p.E497K|POGZ_uc010pdd.2_Missense_Mutation_p.E41K	NM_015100	NP_055915	Q7Z3K3	POGZ_HUMAN	Homo sapiens pogo transposable element with ZNF domain (POGZ), transcript variant 1, mRNA.	550					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TGAACATTTTCCAAGTGGCAC	0.473000														196			42		0	0	0.003610	0	0
OR4K5	79317	broad.mit.edu	37	14	20388956	20388956	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr14:20388956G>A	uc010tkw.2	+	0	191	c.191G>A	c.(190-192)gGa>gAa	p.G64E		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L63F(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTTCTCTTGGGAAACCTTTCC	0.433000														103			48		0	0	0.003610	0	0
SHROOM3	57619	broad.mit.edu	37	4	77660489	77660490	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr4:77660489_77660490GG>AA	uc011cbx.2	+	4	2116_2117	c.1163_1164GG>AA	c.(1162-1164)cgg>cAA	p.R388Q	SHROOM3_uc011cbz.1_Missense_Mutation_p.R212Q|SHROOM3_uc003hkf.1_Missense_Mutation_p.R263Q|SHROOM3_uc003hkg.3_Missense_Mutation_p.R166Q	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	388					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCTCCAGCTCGGAGTGACAGTT	0.619000														2			35		0	0	0.004672	0	0
TTN	7273	broad.mit.edu	37	2	179395891	179395891	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:179395891C>T	uc021vsy.1	-	306	97972	c.97747G>A	c.(97747-97749)Gac>Aac	p.D32583N	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D26278N|TTN_uc021vta.1_Missense_Mutation_p.D26211N|TTN_uc021vtb.1_Missense_Mutation_p.D26086N|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33510	Ig-like 143.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATCGGTGTCACAAGAAAAC	0.507000														144			52		0	0	0.003610	0	0
REN	5972	broad.mit.edu	37	1	204125925	204125925	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:204125925C>T	uc001haq.2	-	7	743	c.699_splice	c.e7-1	p.E233_splice		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	233					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TTGGGAATTCCTAAAGGAAAG	0.527000														50			65		0	0	0.003610	0	0
AKT1S1	84335	broad.mit.edu	37	19	50374974	50374974	+	Splice_Site	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:50374974C>T	uc002pql.4	-	4	1184	c.458_splice	c.e4-1	p.D153_splice	AKT1S1_uc002pqn.4_Splice_Site_p.D153_splice|AKT1S1_uc002pqm.4_Splice_Site_p.D153_splice	NM_032375	NP_115751	Q96B36	AKTS1_HUMAN	Homo sapiens AKT1 substrate 1 (proline-rich) (AKT1S1), transcript variant 1, mRNA.	153					negative regulation of TOR signaling cascade|negative regulation of cell size|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|neuroprotection|phosphatidylinositol-mediated signaling|regulation of survival gene product expression	cytosolic part	protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		AGGCTGCCATCTGAAAGAGAG	0.657000														76			31		0	0	0.002096	0	0
ST6GAL1	6480	broad.mit.edu	37	3	186760840	186760840	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:186760840C>T	uc003frb.3	+	3	982	c.349C>T	c.(349-351)Cta>Tta	p.L117L	ST6GAL1_uc003frc.3_Intron|ST6GAL1_uc003frd.3_Silent_p.L117L	NM_173216	NP_775323	P15907	SIAT1_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 (ST6GAL1), transcript variant 1, mRNA.	117					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|extracellular region|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		GAAGAATTACCTAAGCATGAA	0.527000														39			15		0	0	0.003163	0	0
ZNF845	91664	broad.mit.edu	37	19	53855609	53855609	+	Missense_Mutation	SNP	C	G	G			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:53855609C>G	uc010ydv.1	+	3	1798	c.1681C>G	c.(1681-1683)Cgt>Ggt	p.R561G	ZNF845_uc010ydw.1_Missense_Mutation_p.R561G	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CAAAGCCTTTCGTGGGCAGTC	0.418000														9			20		0	0	0.008871	0	0
MFSD10	10227	broad.mit.edu	37	4	2933363	2933363	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr4:2933363G>A	uc003gfw.3	-	7	1256	c.942C>T	c.(940-942)ctC>ctT	p.L314L	MFSD10_uc021xks.1_Silent_p.L238L|MFSD10_uc003gfz.3_Silent_p.L314L	NM_001120	NP_001139541	Q14728	MFS10_HUMAN	Homo sapiens major facilitator superfamily domain containing 10 (MFSD10), transcript variant 1, mRNA.	314					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGAGGCCGATGAGGAAAAACA	0.672000														2			11		0	0	0.008291	0	0
TEX33	339669	broad.mit.edu	37	22	37398024	37398024	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr22:37398024G>A	uc003aqf.3	-	2	489	c.343C>T	c.(343-345)Cca>Tca	p.P115S	TEX33_uc003aqe.3_Missense_Mutation_p.P30S	NM_001163857	NP_848647	O43247	EAN57_HUMAN	Homo sapiens chromosome 22 open reading frame 33 (C22orf33), transcript variant 1, mRNA.	115																	CCCTGGCATGGCTGAGCCCCC	0.622000														19			14		0	0	0.001855	0	0
MUC17	140453	broad.mit.edu	37	7	100696390	100696390	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:100696390C>T	uc003uxp.1	+	9	13280	c.13227C>T	c.(13225-13227)ctC>ctT	p.L4409L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4409						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TGGTAGCTCTCCTGATGCTCG	0.597000														29			14		0	0	0.004990	0	0
LMF2	91289	broad.mit.edu	37	22	50942015	50942015	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr22:50942015G>A	uc003blp.2	-	13	1960	c.1929C>T	c.(1927-1929)ctC>ctT	p.L643L	LMF2_uc003blo.2_Silent_p.L618L	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	Homo sapiens lipase maturation factor 2 (LMF2), mRNA.	643						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCACGGCCATGAGGAGCCCCC	0.697000														6			9		0	0	0.004482	0	0
ULK1	8408	broad.mit.edu	37	12	132402023	132402023	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:132402023C>T	uc001uje.3	+	21	2518	c.2250C>T	c.(2248-2250)tcC>tcT	p.S750S		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	750					autophagy|protein localization|regulation of autophagy	ULK1-ATG13-FIP200 complex|autophagic vacuole|cytosol|pre-autophagosomal structure	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GCAGCCCTTCCCCGGTGGTCT	0.697000														6			3		0	0	0.000248	0	0
DZIP1L	199221	broad.mit.edu	37	3	137790660	137790660	+	Silent	SNP	C	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:137790660C>A	uc003erq.3	-	11	1803	c.1440G>T	c.(1438-1440)tcG>tcT	p.S480S	DZIP1L_uc003err.1_Silent_p.S480S	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	480						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						GAGTCTGAATCGAGATTCCCT	0.527000														90			69		5.80444e-35	8.64129e-35	0.003610	1	0
PLEKHG4	25894	broad.mit.edu	37	16	67318934	67318934	+	Missense_Mutation	SNP	C	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr16:67318934C>A	uc010cef.3	+	12	2310	c.2011C>A	c.(2011-2013)Ccc>Acc	p.P671T	PLEKHG4_uc002eso.4_Missense_Mutation_p.P671T|PLEKHG4_uc002esp.4_Missense_Mutation_p.P478T|PLEKHG4_uc002esq.4_Missense_Mutation_p.P671T|PLEKHG4_uc002ess.4_Missense_Mutation_p.P671T|PLEKHG4_uc010ceg.3_Missense_Mutation_p.P590T	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.	671					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.P671L(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGCCCACCCTCCCCTGAGGAA	0.632000														9			24		4.26978e-12	6.25792e-12	0.003330	1	0
EHBP1L1	254102	broad.mit.edu	37	11	65350741	65350741	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:65350741C>T	uc001oeo.4	+	8	2863	c.2598C>T	c.(2596-2598)acC>acT	p.T866T		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.	866	Glu-rich.									central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						TACTGATGACCCGTAAGACAG	0.562000														11			18		0	0	0.001523	0	0
LTBP3	4054	broad.mit.edu	37	11	65310921	65310921	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:65310921G>A	uc001oej.3	-	16	2722	c.2453C>T	c.(2452-2454)tCc>tTc	p.S818F	LTBP3_uc001oef.3_5'UTR|LTBP3_uc001oeg.3_5'UTR|LTBP3_uc001oeh.3_Missense_Mutation_p.S248F|LTBP3_uc010roi.2_Missense_Mutation_p.S701F|LTBP3_uc001oei.3_Missense_Mutation_p.S818F|LTBP3_uc010roj.2_Missense_Mutation_p.S519F|LTBP3_uc010rok.1_Missense_Mutation_p.S729F	NM_001130144	NP_001123616	Q9NS15	LTBP3_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 3 (LTBP3), transcript variant 1, mRNA.	818	Cys-rich.|EGF-like 7; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CCGGTCCCTGGACAGATGGTA	0.617000														20			28		0	0	0.005443	0	0
SOGA2	23255	broad.mit.edu	37	18	8784535	8784535	+	Silent	SNP	C	T	T	rs114537770	by1000genomes	TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr18:8784535C>T	uc002knr.2	+	5	1567	c.1425C>T	c.(1423-1425)acC>acT	p.T475T	SOGA2_uc002knq.2_Silent_p.T475T|SOGA2_uc010dkw.1_Silent_p.T313T	NM_015210	NP_056025	Q9Y4B5	CC165_HUMAN	Homo sapiens coiled-coil domain containing 165 (CCDC165), mRNA.	826																	TCACGGACACCGACAGCTTCC	0.677000														55			69		0	0	0.003610	0	0
MYBPC2	4606	broad.mit.edu	37	19	50958509	50958509	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:50958509G>A	uc002psf.2	+	18	2210	c.2159G>A	c.(2158-2160)gGg>gAg	p.G720E		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	720	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AATGCTATAGGGGTCTCCCAG	0.478000														46			67		0	0	0.003610	0	0
PEX11B	8799	broad.mit.edu	37	1	145522632	145522633	+	Missense_Mutation	DNP	CC	GT	GT			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:145522632_145522633CC>GT	uc001eny.2	+	3	729_730	c.493_494CC>GT	c.(493-495)cca>GTa	p.P165V	PEX11B_uc010oyu.2_Missense_Mutation_p.P151V|ITGA10_uc001enz.1_5'Flank|ITGA10_uc001eoa.3_5'Flank|ITGA10_uc010oyv.2_5'Flank|ITGA10_uc009wiw.3_5'Flank	NM_003846	NP_003837	O96011	PX11B_HUMAN	Homo sapiens peroxisomal biogenesis factor 11 beta (PEX11B), transcript variant 1, mRNA.	165	Gly-rich.				peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGAGGAGTCCCAGGAGGAAGT	0.559000														116			41		0	0	0.004672	0	0
ZNF845	91664	broad.mit.edu	37	19	53855350	53855350	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:53855350G>A	uc010ydv.1	+	3	1539	c.1422G>A	c.(1420-1422)aaG>aaA	p.K474K	ZNF845_uc010ydw.1_Silent_p.K474K	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATTGTGGCAAGACCTTCAGTC	0.378000														7			21		0	0	0.001882	0	0
TACR2	6865	broad.mit.edu	37	10	71164625	71164626	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:71164625_71164626CC>TT	uc001jpn.2	-	4	1748_1749	c.1153_1154GG>AA	c.(1153-1155)ggg>AAg	p.G385K	TACR2_uc001jpm.2_Missense_Mutation_p.G173K	NM_001057	NP_001048	P21452	NK2R_HUMAN	Homo sapiens tachykinin receptor 2 (TACR2), mRNA.	385					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	caaaccatacccaaaccatagc	0.559000														8			6		0	0	0.004672	0	0
OXA1L	5018	broad.mit.edu	37	14	23235899	23235899	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	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														79			33		0	0	0.001786	0	0
KAT6B	23522	broad.mit.edu	37	10	76719776	76719776	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:76719776G>A	uc001jwn.1	+	3	1163	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	KAT6B_uc001jwm.1_Missense_Mutation_p.E224K|KAT6B_uc001jwo.1_Missense_Mutation_p.E224K|KAT6B_uc001jwp.1_Missense_Mutation_p.E224K	NM_012330	NP_036462	Q8WYB5	MYST4_HUMAN	Homo sapiens K(lysine) acetyltransferase 6B (KAT6B), mRNA.	224					histone H3 acetylation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription factor binding|zinc ion binding										GGGGACTAAAGAATCAAATCG	0.373000														34			26		0	0	0.002445	0	0
KRT71	112802	broad.mit.edu	37	12	52942550	52942550	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:52942550C>T	uc001sao.3	-	3	818	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K		NM_033448	NP_258259	Q3SY84	K2C71_HUMAN	Homo sapiens keratin 71 (KRT71), mRNA.	250	Coil 1B.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GCCTGCAGTTCCACCTTATTG	0.542000														56			16		0	0	0.006122	0	0
RSF1	51773	broad.mit.edu	37	11	77412662	77412662	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:77412662C>T	uc001oyn.3	-	5	1732	c.1612G>A	c.(1612-1614)Gaa>Aaa	p.E538K	RSF1_uc001oym.3_Missense_Mutation_p.E286K	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	538					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	p.E538D(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AGAGAAGTTTCCATTTCTGGA	0.413000														69			98		0	0	0.003610	0	0
COL4A5	1287	broad.mit.edu	37	X	107866029	107866029	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:107866029G>A	uc022ccg.1	+	32	3093	c.2891G>A	c.(2890-2892)gGa>gAa	p.G964E	COL4A5_uc004enz.1_Missense_Mutation_p.G964E|COL4A5_uc004eob.1_Missense_Mutation_p.G572E	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	964	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGCTCAAAAGGAGAGAAGGGG	0.428000									Alport syndrome with Diffuse Leiomyomatosis					65			55		0	0	0.003610	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140182850	140182850	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:140182850G>A	uc003lhf.2	+	0	2068	c.2068G>A	c.(2068-2070)Gaa>Aaa	p.E690K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.E690K	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	699	Cadherin 6.				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)			CACGGGCCCGGAAGCTGCACT	0.637000														23			36		0	0	0.005524	0	0
KCNV1	27012	broad.mit.edu	37	8	110984910	110984910	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr8:110984910G>A	uc003ynr.4	-	1	1372	c.568C>T	c.(568-570)Ccc>Tcc	p.P190S	KCNV1_uc010mcw.3_Missense_Mutation_p.P190S	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	190						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CGAACAGTGGGACAAGGTCCT	0.488000														36			27		0	0	0.003954	0	0
CDH7	1005	broad.mit.edu	37	18	63477063	63477063	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr18:63477063C>T	uc002lkb.3	+	2	760	c.334C>T	c.(334-336)Cgt>Tgt	p.R112C	CDH7_uc002ljz.3_Missense_Mutation_p.R112C|CDH7_uc002lka.3_Missense_Mutation_p.R112C	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	112	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				GAGACTGGATCGTGAGGAGCA	0.498000														21			14		0	0	0.001855	0	0
ZNF713	349075	broad.mit.edu	37	7	56007168	56007168	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:56007168C>T	uc003tra.2	+	6	1608	c.801C>T	c.(799-801)ttC>ttT	p.F267F	ZNF713_uc003trc.1_Silent_p.F254F	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Homo sapiens zinc finger protein 713 (ZNF713), mRNA.	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GGAAGGCCTTCAGCCACACCT	0.423000														44			37		0	0	0.006230	0	0
PLCB3	5331	broad.mit.edu	37	11	64021914	64021914	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:64021914C>T	uc009ypi.3	+	1	254	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L	PLCB3_uc009ypg.2_Silent_p.L43L|PLCB3_uc009yph.2_Intron	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	43					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCTGGTGACCCTGCGTGTGGA	0.667000														116			33		0	0	0.005524	0	0
CHMP6	79643	broad.mit.edu	37	17	78972194	78972195	+	Missense_Mutation	DNP	CC	TT	TT			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:78972194_78972195CC>TT	uc002jyw.4	+	6	602_603	c.524_525CC>TT	c.(523-525)tcc>tTT	p.S175F		NM_024591	NP_078867	Q96FZ7	CHMP6_HUMAN	Homo sapiens charged multivesicular body protein 6 (CHMP6), mRNA.	175	Interaction with VPS4A.				cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAGGTTCCCTCCGAGCCCCTTC	0.525000														100			43		0	0	0.004672	0	0
LY6G6F	259215	broad.mit.edu	37	6	31675288	31675288	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr6:31675288C>T	uc003nwb.1	+	1	106	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	ABHD16A_uc011dnz.2_Intron|LY6G6F_uc003nwa.1_Missense_Mutation_p.P36S	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6F (LY6G6F), mRNA.	36	Ig-like V-type.					integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						GCTGCCATGTCCCTCACCACC	0.572000														252			183		0	0	0.003610	0	0
DUOX2	50506	broad.mit.edu	37	15	45387780	45387780	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:45387780C>T	uc001zun.3	-	30	4297	c.4094G>A	c.(4093-4095)gGa>gAa	p.G1365E	DUOX2_uc010bea.3_Missense_Mutation_p.G1365E	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1365	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	NAD(P)H oxidase activity|calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TCCAAACGGTCCATCAAGGTA	0.567000														21			21		0	0	0.002299	0	0
BTNL8	79908	broad.mit.edu	37	5	180335636	180335636	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:180335636G>A	uc003mmp.3	+	1	334	c.100G>A	c.(100-102)Gag>Aag	p.E34K	BTNL8_uc003mmq.3_Missense_Mutation_p.E34K|BTNL8_uc010jll.3_Missense_Mutation_p.E34K|BTNL8_uc011dhg.2_Intron|BTNL8_uc010jlm.3_Intron|BTNL8_uc011dhh.2_5'Flank	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	34	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTGGTGGGGGAGGACGCAGC	0.537000														34			50		0	0	0.003610	0	0
MED26	9441	broad.mit.edu	37	19	16687167	16687167	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:16687167G>A	uc002nen.1	-	2	1735	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	MED26_uc002nee.2_Intron	NM_004831	NP_004822	O95402	MED26_HUMAN	Homo sapiens mediator complex subunit 26 (MED26), mRNA.	492					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						CTGCTCTGCCGGCTCAGGTAG	0.627000														26			37		0	0	0.005524	0	0
ZNFX1	57169	broad.mit.edu	37	20	47865830	47865830	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr20:47865830C>T	uc002xui.3	-	13	3978	c.3731G>A	c.(3730-3732)aGc>aAc	p.S1244N		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	1244							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AATGATCTTGCTCCACAGGGG	0.527000														72			20		0	0	0.008871	0	0
DUSP7	1849	broad.mit.edu	37	3	52088053	52088053	+	Silent	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr3:52088053G>A	uc003dct.3	-	1	934	c.855C>T	c.(853-855)ttC>ttT	p.F285F	DUSP7_uc010hma.2_Silent_p.F285F	NM_001947	NP_001938	Q16829	DUS7_HUMAN	Homo sapiens dual specificity phosphatase 7 (DUSP7), mRNA.	285					MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|inactivation of MAPK activity|innate immune response|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGCCGTGCTCGAAGGCGTTGG	0.562000														77			54		0	0	0.003610	0	0
PCNT	5116	broad.mit.edu	37	21	47860047	47860047	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr21:47860047C>T	uc002zji.4	+	41	9432	c.9325C>T	c.(9325-9327)Ctg>Ttg	p.L3109L	PCNT_uc002zjj.3_Silent_p.L2912L	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	3109	Interaction with NEK2.				G2/M transition of mitotic cell cycle|cilium assembly	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACAGAGTTCCCTGAGGCGCCC	0.587000														26			61		0	0	0.003610	0	0
AMPD3	272	broad.mit.edu	37	11	10516460	10516460	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr11:10516460C>T	uc001min.1	+	7	1521	c.1176C>T	c.(1174-1176)ttC>ttT	p.F392F	AMPD3_uc010rbz.1_Silent_p.F224F|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Silent_p.F383F|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Silent_p.F390F|AMPD3_uc009yfy.2_Silent_p.F383F	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	383	Substrate binding (By similarity).				AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		GGCAGACATTCCACCGCTTTG	0.542000														64			26		0	0	0.005443	0	0
DNALI1	7802	broad.mit.edu	37	1	38027681	38027681	+	Splice_Site	SNP	G	A	A	rs139950326		TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:38027681G>A	uc001cbj.3	+	5	653	c.643_splice	c.e5-1	p.I215_splice	DNALI1_uc010oie.2_Splice_Site	NM_003462	NP_003453	O14645	IDLC_HUMAN	Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA.	193					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCTCTCCTCAGATCGCAGAAT	0.547000											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		48			12		0	0	0.003163	0	0
AKAP9	10142	broad.mit.edu	37	7	91631892	91631892	+	Silent	SNP	A	G	G			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:91631892A>G	uc003ulg.3	+	7	2886	c.2661A>G	c.(2659-2661)ttA>ttG	p.L887L	AKAP9_uc003ule.2_Silent_p.L899L|AKAP9_uc003ulf.3_Silent_p.L887L|AKAP9_uc003uli.3_Silent_p.L512L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	899	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	Golgi apparatus|centrosome|cytosol	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AACAGGAATTAGAGTATAAAA	0.294000			T	BRAF	papillary thyroid									45			35		0	0	0.006230	0	0
IL11RA	3590	broad.mit.edu	37	9	34656778	34656778	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr9:34656778C>T	uc003zvi.3	+	3	1560	c.204C>T	c.(202-204)ctC>ctT	p.L68L	IL11RA_uc011loq.2_Silent_p.L68L|IL11RA_uc003zvj.3_Silent_p.L68L|IL11RA_uc003zvk.3_Silent_p.L68L|IL11RA_uc010mke.3_5'UTR	NM_004512	NP_004503	Q14626	I11RA_HUMAN	Homo sapiens interleukin 11 receptor, alpha (IL11RA), transcript variant 1, mRNA.	68	Ig-like C2-type.					integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	CAAAGCTGCTCCAGGGACCTG	0.567000														14			18		0	0	0.008871	0	0
OR6C2	341416	broad.mit.edu	37	12	55846759	55846759	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:55846759C>T	uc001sgz.1	+	0	762	c.762C>T	c.(760-762)atC>atT	p.I254I		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C253Y(1)		kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						GAAGCTGCATCTTCATCTATA	0.423000														29			48		0	0	0.003610	0	0
CBLL1	79872	broad.mit.edu	37	7	107399243	107399243	+	Missense_Mutation	SNP	C	T	T	rs150861689		TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr7:107399243C>T	uc003veq.3	+	5	1426	c.1096C>T	c.(1096-1098)Cac>Tac	p.H366Y	CBLL1_uc011kme.2_Missense_Mutation_p.H245Y|CBLL1_uc011kmf.2_Missense_Mutation_p.H365Y	NM_024814	NP_079090	Q75N03	HAKAI_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence-like 1 (CBLL1), transcript variant 1, mRNA.	366	Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.H366Y(2)|p.P365S(1)		endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						AGGTACTCCTCACTTGGTATA	0.522000														120			108		0	0	0.003610	0	0
PLEKHJ1	55111	broad.mit.edu	37	19	2233889	2233889	+	Missense_Mutation	SNP	A	G	G			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:2233889A>G	uc002lvf.1	-	5	1104	c.400T>C	c.(400-402)Ttc>Ctc	p.F134L	SF3A2_uc002lvg.3_5'Flank	NM_018049	NP_060519	Q9NW61	PKHJ1_HUMAN	Homo sapiens pleckstrin homology domain containing, family J member 1 (PLEKHJ1), mRNA.	134							protein binding			endometrium(1)|kidney(1)	2				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)		GATATGCCGAACTGTTCCAGG	0.701000														9			17		0	0	0.004007	0	0
L32131	0	broad.mit.edu	37	17	58512627	58512627	+	RNA	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:58512627C>T	uc002iyr.1	-	0		c.731G>A								Homo sapiens cDNA FLJ33664 fis, clone BRAMY2027451, moderately similar to 60S RIBOSOMAL PROTEIN L12.																		ATCAGCTTTTCCCTTTTTCCC	0.507000														11			11		0	0	0.001855	0	0
CABIN1	23523	broad.mit.edu	37	22	24563275	24563275	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr22:24563275C>T	uc002zzi.1	+	31	5803	c.5676C>T	c.(5674-5676)atC>atT	p.I1892I	CABIN1_uc021wnc.1_Silent_p.I1842I|CABIN1_uc002zzj.1_Silent_p.I1813I|CABIN1_uc002zzl.2_Silent_p.I1892I|CABIN1_uc002zzm.1_Silent_p.I317I	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1892					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACATGCTCATCAAGCAGGTGG	0.612000														50			27		0	0	0.008361	0	0
PLXDC2	84898	broad.mit.edu	37	10	20357117	20357117	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:20357117G>A	uc001iqg.1	+	3	1127	c.490G>A	c.(490-492)Gat>Aat	p.D164N	PLXDC2_uc001iqh.1_Missense_Mutation_p.D115N	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	164						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TCTGTCCTTCGATTTTCCATT	0.393000														20			11		0	0	0.008291	0	0
ARAF	369	broad.mit.edu	37	X	47428156	47428156	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chrX:47428156C>T	uc011mlp.2	+	10	1310	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	ARAF_uc011mln.2_Non-coding_Transcript|ARAF_uc011mlo.2_Silent_p.F238F|ARAF_uc004dic.1_Silent_p.F153F	NM_001654	NP_001645	P10398	ARAF_HUMAN	Homo sapiens v-raf murine sarcoma 3611 viral oncogene homolog (ARAF), transcript variant 1, mRNA.	372	Protein kinase.				intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	TTATGGGCTTCATGACCCGGC	0.562000											OREG0019759	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		17			15		0	0	0.003163	0	0
LRRN2	10446	broad.mit.edu	37	1	204587774	204587775	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:204587774_204587775GG>AA	uc021phy.1	-	0	1346_1347	c.1346_1347CC>TT	c.(1345-1347)gcc>gTT	p.A449V	MDM4_uc001hbd.2_Intron|LRRN2_uc001hbe.1_Missense_Mutation_p.A449V|LRRN2_uc001hbf.1_Missense_Mutation_p.A449V|LRRN2_uc009xbf.1_Missense_Mutation_p.A449V|MDM4_uc001hbc.3_Intron	NM_201630	NP_963924	O75325	LRRN2_HUMAN	Homo sapiens leucine rich repeat neuronal 2 (LRRN2), transcript variant 2, mRNA.	449	Ig-like C2-type.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GTTCGGGTTCGGCCAGTGCCCG	0.639000														37			20		0	0	0.004672	0	0
THSD7B	80731	broad.mit.edu	37	2	137814554	137814554	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:137814554G>A	uc002tva.1	+	1	611	c.611G>A	c.(610-612)gGg>gAg	p.G204E	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.G94E	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGTCCTCTTGGGGAAGAGGAA	0.463000														120			54		0	0	0.003610	0	0
GPR142	350383	broad.mit.edu	37	17	72367875	72367875	+	Silent	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr17:72367875C>T	uc021ucp.1	+	3	525	c.516C>T	c.(514-516)ctC>ctT	p.L172L	GPR142_uc010wqy.2_Silent_p.L175L	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	175						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CAGTCAGCCTCCTGACCGCAG	0.627000														31			21		0	0	0.001523	0	0
CUBN	8029	broad.mit.edu	37	10	16975241	16975241	+	Missense_Mutation	SNP	A	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr10:16975241A>T	uc001ioo.3	-	39	6021	c.5969T>A	c.(5968-5970)tTt>tAt	p.F1990Y		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1990	CUB 14.				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)	GGAGAAGAGAAACACGGGTGC	0.522000														20			16		0	0	0.003163	0	0
SP7	121340	broad.mit.edu	37	12	53722058	53722058	+	Missense_Mutation	SNP	C	T	T			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr12:53722058C>T	uc001sct.3	-	1	1275	c.1168G>A	c.(1168-1170)Gag>Aag	p.E390K	SP7_uc001scv.3_Missense_Mutation_p.E390K|SP7_uc001scu.3_Missense_Mutation_p.E372K	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						TCCCCCAGCTCCTTGGGGCCA	0.687000											OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		18			6		0	0	0.001168	0	0
FBXO11	80204	broad.mit.edu	37	2	48066079	48066079	+	Missense_Mutation	SNP	G	A	A			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr2:48066079G>A	uc002rwe.3	-	3	579	c.506C>T	c.(505-507)tCt>tTt	p.S169F	FBXO11_uc010fbl.3_Missense_Mutation_p.S85F|FBXO11_uc002rwg.2_Missense_Mutation_p.S169F|FBXO11_uc021vhe.1_5'Flank	NM_001190274	NP_001177203	Q86XK2	FBX11_HUMAN	Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.	169	F-box.				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAGCAAGTAAGAGAAGATTTT	0.378000			"""Mis, F, D"""		DLBCL									23			24		0	0	0.003954	0	0
CADM3	57863	broad.mit.edu	37	1	159166744	159166744	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:159166744delT	uc001ftl.2	+	6	1025	c.846delT	c.(844-846)agtfs	p.S282fs	CADM3_uc009wsy.1_Frame_Shift_Del_p.S236fs|CADM3_uc001ftk.2_Frame_Shift_Del_p.S316fs|LOC100131825_uc001ftm.2_Non-coding_Transcript	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	282	Ig-like C2-type 2.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	p.G281A(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)					CCCAGGAGAGTGCCCTGATCT	0.572													---	261	---	---	27	---					
LGR6	59352	broad.mit.edu	37	1	202269987	202269989	+	In_Frame_Del	DEL	AAC	-	-			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr1:202269987_202269989delAAC	uc001gxu.3	+	7	796_798	c.796_798delAAC	c.(796-798)aacdel	p.N268del	LGR6_uc001gxv.3_In_Frame_Del_p.N216del|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_In_Frame_Del_p.N129del|LGR6_uc009xac.1_Non-coding_Transcript	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	268						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGGGTTCCATAACAACAACATCA	0.493													---	211	---	---	36	---					
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	GCC	GCC	rs34838882	by1000genomes	TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:113698631_113698632insGCC	uc003kqo.3	+	0	616_617	c.159_160insGCC	c.(157-162)insGCC	p.58_59insA		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.	58	Poly-Ala.					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	p.A58_V59insA(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CTGCAGCCGCTGCCGCCGCCGC	0.703													---	6	---	---	3	---					
PCDHB6	56130	broad.mit.edu	37	5	140530730	140530730	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr5:140530730delG	uc003lir.3	+	0	892	c.892delG	c.(892-894)gaafs	p.E298fs		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	298	Cadherin 3.				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)			AATCACAGGAGAAATTCGGCT	0.448													---	70	---	---	34	---					
IREB2	3658	broad.mit.edu	37	15	78765610	78765610	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr15:78765610delG	uc002bdr.2	+	7	1072	c.910delG	c.(910-912)gttfs	p.V304fs	IREB2_uc010unb.1_Frame_Shift_Del_p.V54fs|IREB2_uc002bdq.3_Frame_Shift_Del_p.V304fs	NM_004136	NP_004127	P48200	IREB2_HUMAN	Homo sapiens iron-responsive element binding protein 2 (IREB2), mRNA.	304							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AACAGAAGCAGTTATGCTTGG	0.378													---	53	---	---	56	---					
CYP2B6	1555	broad.mit.edu	37	19	41510233	41510233	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DA-A1IA-06A-11D-A196-08	TCGA-DA-A1IA-10A-01D-A198-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c928fc9-b959-48ce-8d62-fa70289cdc52	99859cf9-be45-48ed-820f-8cef9a36925e	g.chr19:41510233delG	uc002opr.1	+	2	373	c.366delG	c.(364-366)aagfs	p.K122fs	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Frame_Shift_Del_p.K82fs	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	122					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	ACCGCTGGAAGGTGCTTCGGC	0.552													---	20	---	---	11	---