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
CYB5RL	606495	broad.mit.edu	37	1	54640395	54640395	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr1:54640395C>T	uc009vzo.3	-	7	1165	c.845G>A	c.(844-846)aGa>aAa	p.R282K	CYB5RL_uc001cww.3_Missense_Mutation_p.R172K|CYB5RL_uc001cwy.4_Missense_Mutation_p.R134K|CYB5RL_uc001cwx.4_Non-coding_Transcript	NM_001031672	NP_001026842	Q6IPT4	NB5R5_HUMAN	Homo sapiens cytochrome b5 reductase-like (CYB5RL), mRNA.	282							cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						GAATGGCTTTCTCCGACAGCA	0.547000														20			13		0	0	0.004007	0	0
CNNM2	54805	broad.mit.edu	37	10	104679308	104679308	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr10:104679308G>T	uc001kwm.3	+	0	1234	c.1071G>T	c.(1069-1071)gaG>gaT	p.E357D	CNNM2_uc001kwn.3_Missense_Mutation_p.E357D|CNNM2_uc001kwl.3_Missense_Mutation_p.E357D	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	357	DUF21.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCTTCGGAGAGATCGTGCCCC	0.607000														73			33		2.48696e-23	2.98435e-23	0.015359	1	0
PI4K2A	55361	broad.mit.edu	37	10	99400806	99400806	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr10:99400806G>A	uc001kog.1	+	0	364	c.307G>A	c.(307-309)Gag>Aag	p.E103K	PI4K2A_uc010qoy.1_Intron	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 alpha (PI4K2A), mRNA.	103					phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		CGAGCGGAACGAGTTCCCGGA	0.731000														10			3		0	0	0.014758	0	0
OTOP1	133060	broad.mit.edu	37	4	4199006	4199006	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr4:4199006T>C	uc003ghp.1	-	4	1585	c.1555A>G	c.(1555-1557)Agc>Ggc	p.S519G		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	519					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCCCAGCTGCTCTCCTCCTGC	0.562000														61			22		0	0	0.010504	0	0
PAK4	10298	broad.mit.edu	37	19	39667267	39667267	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr19:39667267G>T	uc002okj.1	+	8	1858	c.1397G>T	c.(1396-1398)aGc>aTc	p.S466I	PAK4_uc002okl.1_Missense_Mutation_p.S466I|PAK4_uc002okn.1_Missense_Mutation_p.S466I|PAK4_uc002okm.1_Missense_Mutation_p.S313I|PAK4_uc002oko.1_Missense_Mutation_p.S313I|PAK4_uc002okp.1_Missense_Mutation_p.S376I	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	466	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GCCCAGGTGAGCAAGGAAGTG	0.672000														102			78		5.40308e-56	6.77841e-56	0.014410	1	0
DST	667	broad.mit.edu	37	6	56347659	56347659	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr6:56347659A>G	uc003pcy.4	-	69	13463	c.13355T>C	c.(13354-13356)tTg>tCg	p.L4452S		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	6864					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	Z disc|actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein C-terminus binding|protein binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTCTTCCCCAACTCTTTTTG	0.448000														37			16		0	0	0.007413	0	0
EBF2	64641	broad.mit.edu	37	8	25715868	25715868	+	Silent	SNP	G	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr8:25715868G>A	uc003xes.2	-	13	1760	c.1495C>T	c.(1495-1497)Cta>Tta	p.L499L	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	499	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GAGCCATTTAGAAATCCTGGT	0.483000														41			21		0	0	0.012319	0	0
CELSR1	9620	broad.mit.edu	37	22	46804928	46804928	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr22:46804928C>T	uc003bhw.1	-	8	5191	c.5191G>A	c.(5191-5193)Gcc>Acc	p.A1731T	CELSR1_uc011arc.1_Missense_Mutation_p.A44T	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1731	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCACTGGTGGCCTCCATCAGA	0.657000														21			7		0	0	0.001984	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140228538	140228538	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr5:140228538C>A	uc003lhu.2	+	0	1182	c.458C>A	c.(457-459)cCa>cAa	p.P153Q	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_uc003lht.1_Missense_Mutation_p.P153Q	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	168	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)			TCTCGGTTTCCACTAGAGGGC	0.547000														71			30		2.6416e-12	2.96375e-12	0.006230	1	0
SLMO2	51012	broad.mit.edu	37	20	57613690	57613690	+	Splice_Site	SNP	C	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr20:57613690C>T	uc002yam.3	-	2	149	c.33_splice	c.e2-1	p.D11_splice	SLMO2_uc021wfq.1_Splice_Site|SLMO2_uc021wfr.1_Intron|SLMO2_uc010zzv.2_Splice_Site_p.D11_splice	NM_016045	NP_057129	Q9Y3B1	SLMO2_HUMAN	Homo sapiens slowmo homolog 2 (Drosophila) (SLMO2), transcript variant 1, mRNA.	11	PRELI/MSF1.									endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			CCACGGGTGGCTGCCGATGTG	0.338000														65			49		0	0	0.014410	0	0
LRBA	987	broad.mit.edu	37	4	151829520	151829520	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr4:151829520G>A	uc010ipj.3	-	10	1703	c.1459C>T	c.(1459-1461)Caa>Taa	p.Q487*	LRBA_uc003ilu.4_Nonsense_Mutation_p.Q487*|LRBA_uc010ipk.1_Nonsense_Mutation_p.Q406*	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	487						Golgi apparatus|endoplasmic reticulum|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GACAAATATTGCCTGTAATCC	0.363000														54			27		0	0	0.005443	0	0
SEMA4F	10505	broad.mit.edu	37	2	74902749	74902749	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:74902749G>A	uc002sna.1	+	10	1581	c.1470G>A	c.(1468-1470)atG>atA	p.M490I	SEMA4F_uc010ffq.1_Missense_Mutation_p.M457I|SEMA4F_uc010ffr.1_Missense_Mutation_p.M102I|SEMA4F_uc002snb.1_Missense_Mutation_p.M102I|SEMA4F_uc002snc.1_Missense_Mutation_p.M335I	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	490	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	p.M490I(2)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TTGAGAACATGAAATTGTACC	0.512000														87			33		0	0	0.012213	0	0
TEX19	400629	broad.mit.edu	37	17	80320426	80320426	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr17:80320426C>A	uc002keq.3	+	1	710	c.400C>A	c.(400-402)Ctg>Atg	p.L134M	TEX19_uc021ufp.1_Missense_Mutation_p.L134M	NM_207459	NP_997342	Q8NA77	TEX19_HUMAN	Homo sapiens testis expressed 19 (TEX19), mRNA.	134						nucleus				breast(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6						GCCCCTGGGCCTGGGCCTTGA	0.597000														105			64		3.28615e-30	4.04901e-30	0.014410	1	0
GATAD2A	54815	broad.mit.edu	37	19	19603133	19603133	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr19:19603133G>T	uc010xqt.2	+	2	600	c.288G>T	c.(286-288)agG>agT	p.R96S	GATAD2A_uc010xqu.2_Intron|GATAD2A_uc010xqv.2_Missense_Mutation_p.R115S|GATAD2A_uc010xqw.2_Intron	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	Homo sapiens GATA zinc finger domain containing 2A (GATAD2A), mRNA.	96					DNA methylation|negative regulation of transcription, DNA-dependent	NuRD complex|nuclear speck	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A95V(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						AGTCCGAGAGGAGACCCCCCT	0.617000														6			8		5.4927e-09	6.11285e-09	0.004482	1	0
SF3A1	10291	broad.mit.edu	37	22	30737847	30737847	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr22:30737847T>A	uc003ahl.3	-	6	1037	c.905A>T	c.(904-906)gAg>gTg	p.E302V	SF3A1_uc021wnt.1_Missense_Mutation_p.E237V	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	302					nuclear mRNA 3'-splice site recognition	U2-type spliceosomal complex|catalytic step 2 spliceosome|nucleoplasm	RNA binding|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						CCCCAGCTCCTCTGGCGTGGT	0.547000														65			26		0	0	0.021523	0	0
AGTR2	186	broad.mit.edu	37	X	115303624	115303624	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chrX:115303624T>G	uc022cdd.1	+	0	91	c.91T>G	c.(91-93)Tct>Gct	p.S31A	AGTR2_uc004eqh.4_Missense_Mutation_p.S31A	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	31					G-protein signaling, coupled to cGMP nucleotide second messenger|behavior|blood vessel remodeling|brain development|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						CAACAATGAGTCTACCTTGAA	0.383000														30			56		0	0	0.014410	0	0
USP40	55230	broad.mit.edu	37	2	234449396	234449396	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:234449396G>T	uc010zmr.2	-	8	1115	c.1115C>A	c.(1114-1116)cCt>cAt	p.P372H	USP40_uc010zmt.1_Missense_Mutation_p.P16H	NM_018218	NP_060688	Q9NVE5	UBP40_HUMAN	Homo sapiens ubiquitin specific peptidase 40 (USP40), mRNA.	360					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.P372R(3)		breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CTGATCAACAGGAATTAGATT	0.378000														112			90		2.62214e-60	3.31977e-60	0.014410	1	0
CEP85	64793	broad.mit.edu	37	1	26603078	26603078	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr1:26603078A>T	uc001bls.1	+	12	2086	c.1955A>T	c.(1954-1956)cAc>cTc	p.H652L	CEP85_uc001blr.3_Missense_Mutation_p.H652L|CEP85_uc010ofa.1_Missense_Mutation_p.H601L|CEP85_uc001blt.1_Missense_Mutation_p.H84L	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN	Homo sapiens centrosomal protein 85kDa (CEP85), mRNA.	652						centrosome|nucleolus|spindle pole				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						CTCCAGGAACACCTGCGCCAG	0.557000														12			21		0	0	0.010504	0	0
RTN4	57142	broad.mit.edu	37	2	55253514	55253514	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:55253514T>G	uc002rye.3	-	2	2019	c.1721A>C	c.(1720-1722)gAa>gCa	p.E574A	RTN4_uc002ryd.3_Missense_Mutation_p.E368A|RTN4_uc002ryf.3_Intron|RTN4_uc002ryg.3_Intron	NM_020532	NP_997404	Q9NQC3	RTN4_HUMAN	Homo sapiens reticulon 4 (RTN4), transcript variant 1, mRNA.	574					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CATTTTTGTTTCATAAGCAAT	0.418000														86			26		0	0	0.005443	0	0
ATP2B2	491	broad.mit.edu	37	3	10387742	10387742	+	Silent	SNP	G	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr3:10387742G>A	uc003bvt.3	-	16	2923	c.2484C>T	c.(2482-2484)ctC>ctT	p.L828L	ATP2B2_uc003bvv.3_Silent_p.L783L|ATP2B2_uc003bvw.3_Silent_p.L783L|ATP2B2_uc010hdo.3_Silent_p.L533L	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	828					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|PDZ domain binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGGCCTTCTTGAGTGCAGGCC	0.652000														38			12		0	0	0.016723	0	0
TMEM177	80775	broad.mit.edu	37	2	120439354	120439354	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:120439354G>A	uc021vnk.1	+	0	925	c.925G>A	c.(925-927)Ggc>Agc	p.G309S	TMEM177_uc002tme.2_Intron|TMEM177_uc010flg.1_Missense_Mutation_p.G309S|TMEM177_uc002tmc.1_Missense_Mutation_p.G309S|TMEM177_uc002tmd.2_Missense_Mutation_p.G309S|TMEM177_uc010flh.3_Intron	NM_030577	NP_085054	Q53S58	TM177_HUMAN	Homo sapiens transmembrane protein 177 (TMEM177), transcript variant 2, mRNA.	309						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					GCTCAATCCGGGCCGCTCCTG	0.577000														71			29		0	0	0.005524	0	0
FRG1B	284802	broad.mit.edu	37	20	29625905	29625905	+	Missense_Mutation	SNP	T	C	C	rs137871677	by1000genomes	TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr20:29625905T>C	uc010ztl.1	+	1	91	c.59T>C	c.(58-60)cTt>cCt	p.L20P	FRG1B_uc002wvm.1_Non-coding_Transcript|FRG1B_uc010ztj.1_Non-coding_Transcript|FRG1B_uc010gdr.1_Non-coding_Transcript|FRG1B_uc010ztk.1_Intron					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.									p.L50P(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGAAAATATCTTGGTATAAAT	0.333000														125			4		0	0	0.003080	0	0
ANKRD50	57182	broad.mit.edu	37	4	125592787	125592787	+	Silent	SNP	A	G	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr4:125592787A>G	uc010inw.3	-	3	2683	c.1645T>C	c.(1645-1647)Ttg>Ctg	p.L549L	ANKRD50_uc011cgo.2_Silent_p.L370L	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	549										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GCATTAGCCAATAATGTTCTC	0.393000														156			20		0	0	0.010504	0	0
SMG1	23049	broad.mit.edu	37	16	18841596	18841596	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr16:18841596G>T	uc002dfm.3	-	51	9251	c.8888C>A	c.(8887-8889)gCa>gAa	p.A2963E	SMG1_uc010bwb.3_Missense_Mutation_p.A2823E|SMG1_uc010bwa.3_Missense_Mutation_p.A1694E	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	2963					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GCCATCGAATGCTACCAAAAG	0.388000														23			19		5.35267e-07	5.86244e-07	0.007413	1	0
BCL9L	283149	broad.mit.edu	37	11	118771686	118771686	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr11:118771686A>C	uc001pug.3	-	5	3731	c.2766T>G	c.(2764-2766)aaT>aaG	p.N922K	BCL9L_uc009zal.3_Missense_Mutation_p.N917K	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	922	Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		AGCCCATCTGATTAATACTGA	0.632000														47			15		0	0	0.003163	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188966	32188966	+	Silent	SNP	G	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr6:32188966G>A	uc003obb.3	-	3	727	c.588C>T	c.(586-588)aaC>aaT	p.N196N	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Silent_p.N196N	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	196	EGF-like 5; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGAAGCACTCGTTGACATCAC	0.627000														71			4		0	0	0.009096	0	0
OR2M3	127062	broad.mit.edu	37	1	248366486	248366486	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr1:248366486C>A	uc010pzg.2	+	0	117	c.117C>A	c.(115-117)ttC>ttA	p.F39L		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F39L(2)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CAGTGGCCTTCATGGGAAACT	0.547000														430			46		6.18754e-15	7.11567e-15	0.014410	1	0
LRP1B	53353	broad.mit.edu	37	2	141819633	141819633	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:141819633A>T	uc002tvj.1	-	7	2195	c.1223T>A	c.(1222-1224)aTt>aAt	p.I408N	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	408					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCTGCCTTGAATGACAGTGTG	0.358000										TSP Lung(27;0.18)				115			65		0	0	0.014410	0	0
FMO4	2329	broad.mit.edu	37	1	171303821	171303821	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr1:171303821A>G	uc001gho.3	+	7	1316	c.1099A>G	c.(1099-1101)Atc>Gtc	p.I367V		NM_002022	NP_002013	P31512	FMO4_HUMAN	Homo sapiens flavin containing monooxygenase 4 (FMO4), mRNA.	367					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GACATTAGCCATCATCGGCCT	0.413000														84			31		0	0	0.021022	0	0
MST1	4485	broad.mit.edu	37	3	49726048	49726048	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr3:49726048T>A	uc003cxg.3	-	0	149	c.77A>T	c.(76-78)cAa>cTa	p.Q26L	MST1_uc011bcs.1_Missense_Mutation_p.Q26L|MST1_uc010hkx.2_5'UTR|MST1_uc011bct.1_Missense_Mutation_p.Q26L|MST1_uc011bcu.1_Non-coding_Transcript|RNF123_uc003cxh.3_5'Flank	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	12	PAN.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCCTAAGCATTGAGTCAGAAG	0.582000														18			3		0	0	0.004672	0	0
OR8B8	26493	broad.mit.edu	37	11	124310919	124310919	+	Silent	SNP	C	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr11:124310919C>T	uc010sal.2	-	0	63	c.63G>A	c.(61-63)ccG>ccA	p.P21P		NM_012378	NP_036510	Q15620	OR8B8_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 8 (OR8B8), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P21T(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TCTGGACTCCCGGTTGGTCAG	0.502000														40			22		0	0	0.018920	0	0
ZNF846	162993	broad.mit.edu	37	19	9868191	9868191	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr19:9868191A>G	uc002mmb.1	-	5	2093	c.1562T>C	c.(1561-1563)cTt>cCt	p.L521P	ZNF846_uc021uoq.1_Intron|ZNF846_uc010dww.3_Intron|ZNF846_uc002mmc.1_Missense_Mutation_p.L392P	NM_001077624	NP_001071092	Q147U1	ZN846_HUMAN	Homo sapiens zinc finger protein 846 (ZNF846), mRNA.	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						ATGTTTAGCAAGTGCTGAAGA	0.368000														149			83		0	0	0.014410	0	0
SMC5	23137	broad.mit.edu	37	9	72901129	72901129	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr9:72901129A>T	uc004ahr.2	+	7	1112	c.995A>T	c.(994-996)aAg>aTg	p.K332M		NM_015110	NP_055925	Q8IY18	SMC5_HUMAN	Homo sapiens structural maintenance of chromosomes 5 (SMC5), mRNA.	332					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						ACAGATATTAAGGAGGCATCT	0.353000														52			34		0	0	0.013726	0	0
SAV1	60485	broad.mit.edu	37	14	51131903	51131903	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr14:51131903C>T	uc001wyh.1	-	1	867	c.529G>A	c.(529-531)Gct>Act	p.A177T	SAV1_uc021rsy.1_Non-coding_Transcript	NM_021818	NP_068590	Q9H4B6	SAV1_HUMAN	Homo sapiens salvador homolog 1 (Drosophila) (SAV1), mRNA.	177					hippo signaling cascade	cytoplasm|nucleus	identical protein binding			breast(1)|kidney(2)|lung(2)|prostate(1)	6	all_epithelial(31;0.000611)|Breast(41;0.0333)					CTACCTGAAGCATGCCTCCCC	0.358000														22			30		0	0	0.014410	0	0
CUL3	8452	broad.mit.edu	37	2	225422516	225422516	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:225422516G>A	uc010fwy.1	-	1	195	c.142C>T	c.(142-144)Caa>Taa	p.Q48*	CUL3_uc010zls.1_Intron|CUL3_uc002vny.2_Nonsense_Mutation_p.Q42*	NM_003590	NP_003581	Q13618	CUL3_HUMAN	Homo sapiens cullin 3 (CUL3), mRNA.	42					G1/S transition of mitotic cell cycle|cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TGGATTTCTTGAATTGCATTT	0.333000														38			48		0	0	0.013114	0	0
MUC4	4585	broad.mit.edu	37	3	195507874	195507874	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr3:195507874G>T	uc021xjp.1	-	1	10733	c.10577C>A	c.(10576-10578)aCt>aAt	p.T3526N	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_5'Flank|MUC4_uc021xjn.1_5'Flank|MUC4_uc021xjo.1_5'Flank|MUC4_uc021xjg.1_5'Flank|MUC4_uc021xjh.1_5'Flank|MUC4_uc021xji.1_5'Flank|MUC4_uc021xjj.1_5'Flank|MUC4_uc021xjk.1_5'Flank|MUC4_uc021xjl.1_5'Flank|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	323					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TACTGAGGAAGTGTCGGTGAC	0.602000														1			2		0.004672	0.00495951	0.004672	1	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274343	39274343	+	Silent	SNP	A	G	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr17:39274343A>G	uc002hvz.3	-	0	264	c.225T>C	c.(223-225)tgT>tgC	p.C75C		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	75	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14).			keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCTGGGGCGACAGCAGCTGG	0.657000														65			3		0	0	0.004672	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39482535	39482535	+	Silent	SNP	C	G	G	rs138907659		TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr22:39482535C>G	uc021wpr.1	+	5	1280	c.987C>G	c.(985-987)gcC>gcG	p.A329A	APOBEC3F_uc003awx.3_Silent_p.A329A|APOBEC3F_uc003awy.3_Silent_p.A262A	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.	329					DNA cytosine deamination|base conversion or substitution editing|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	RNA binding|cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GCACCCTGGCCGAGGCTGGGG	0.522000														121			48		0	0	0.014410	0	0
SRGAP1	57522	broad.mit.edu	37	12	64521913	64521913	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr12:64521913C>A	uc010ssp.1	+	20	2869	c.2813C>A	c.(2812-2814)tCc>tAc	p.S938Y	SRGAP1_uc001srv.2_Missense_Mutation_p.S875Y	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	938					axon guidance	cytosol		p.S938C(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATTAGAAGGTCCACGTCATCA	0.532000														27			11		3.07112e-06	3.33712e-06	0.010729	1	0
RTN4	57142	broad.mit.edu	37	2	55253513	55253513	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:55253513T>A	uc002rye.3	-	2	2020	c.1722A>T	c.(1720-1722)gaA>gaT	p.E574D	RTN4_uc002ryd.3_Missense_Mutation_p.E368D|RTN4_uc002ryf.3_Intron|RTN4_uc002ryg.3_Intron	NM_020532	NP_997404	Q9NQC3	RTN4_HUMAN	Homo sapiens reticulon 4 (RTN4), transcript variant 1, mRNA.	574					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CCATTTTTGTTTCATAAGCAA	0.413000														85			26		0	0	0.005443	0	0
ATF7	11016	broad.mit.edu	37	12	53931334	53931334	+	Silent	SNP	A	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr12:53931334A>T	uc001sdy.3	-	3	321	c.300T>A	c.(298-300)gcT>gcA	p.A100A	ATF7_uc010sok.1_Non-coding_Transcript|ATF7_uc001sdz.3_Silent_p.A89A|ATF7_uc010sol.2_Silent_p.A89A	NM_001130059	NP_001123531	P17544	ATF7_HUMAN	Homo sapiens activating transcription factor 7 (ATF7), transcript variant 1, mRNA.	100	Transactivation domain.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						GCCCAGCAGCAGCCTGTTGTG	0.443000														28			14		0	0	0.020292	0	0
FLT1	2321	broad.mit.edu	37	13	29001983	29001983	+	Silent	SNP	G	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr13:29001983G>A	uc001usb.3	-	8	1467	c.1182C>T	c.(1180-1182)gaC>gaT	p.D394D	FLT1_uc010aar.1_Silent_p.D394D|FLT1_uc001usc.3_Silent_p.D394D|FLT1_uc010tdp.1_Silent_p.D394D|HV303168_uc021rhp.1_5'Flank	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	394	Ig-like C2-type 4.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	Golgi apparatus|extracellular space|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CTTCAGTTACGTCCTTGATAA	0.388000														131			5		0	0	0.001168	0	0
TRPV3	162514	broad.mit.edu	37	17	3458126	3458126	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr17:3458126C>T	uc002fvr.2	-	1	341	c.19G>A	c.(19-21)Gag>Aag	p.E7K	TRPV3_uc010vrk.1_Non-coding_Transcript|TRPV3_uc002fvt.1_Missense_Mutation_p.E7K|TRPV3_uc010vrj.1_5'UTR|TRPV3_uc002fvu.3_Missense_Mutation_p.E7K	NM_145068	NP_659505	Q8NET8	TRPV3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 3 (TRPV3), mRNA.	7						integral to membrane	calcium channel activity	p.E7D(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GGCACCATCTCCTTGGGGTGG	0.622000														42			21		0	0	0.012319	0	0
FAU	2197	broad.mit.edu	37	11	64888258	64888258	+	Missense_Mutation	SNP	C	A	A	rs3202210		TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr11:64888258C>A	uc001ocx.3	-	4	416	c.297G>T	c.(295-297)aaG>aaT	p.K99N	MRPL49_uc021qle.1_5'Flank|MRPL49_uc001oda.2_5'Flank|MRPL49_uc021qlf.1_5'Flank	NM_001997	NP_001988	P35544	UBIM_HUMAN	Homo sapiens Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (FAU), mRNA.	0								p.K98K(1)		NS(3)|kidney(1)|large_intestine(2)	6						TCTTCTTCTTCTTCTTCTCCT	0.557000														105			62		4.52765e-18	5.29504e-18	0.014410	1	0
LRP2	4036	broad.mit.edu	37	2	170083080	170083080	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:170083080A>G	uc002ues.3	-	31	5459	c.5246T>C	c.(5245-5247)aTa>aCa	p.I1749T		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1749					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	SH3 domain binding|calcium ion binding|receptor activity			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCTTACAGTTATTAAGAAAGG	0.368000														86			26		0	0	0.018920	0	0
C10orf27	219793	broad.mit.edu	37	10	72537063	72537063	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr10:72537063T>C	uc010qjm.1	-	6	929	c.539A>G	c.(538-540)gAg>gGg	p.E180G	C10orf27_uc001jrj.1_Missense_Mutation_p.E179G|C10orf27_uc009xqh.1_Non-coding_Transcript|C10orf27_uc010qjn.1_Missense_Mutation_p.E178G|C10orf27_uc009xqi.1_Non-coding_Transcript|C10orf27_uc010qjo.1_Missense_Mutation_p.E199G	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	Homo sapiens chromosome 10 open reading frame 27 (C10orf27), mRNA.	179					cell differentiation|multicellular organismal development|spermatogenesis	cytosol				cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|skin(2)	16						TGCCCCCTGCTCCCGCAGAGG	0.637000														43			17		0	0	0.008871	0	0
ZBBX	79740	broad.mit.edu	37	3	167083714	167083714	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr3:167083714T>G	uc011bpc.2	-	5	570	c.233A>C	c.(232-234)cAa>cCa	p.Q78P	ZBBX_uc003feq.3_Missense_Mutation_p.Q49P|ZBBX_uc003fep.3_Missense_Mutation_p.Q78P	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	78						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						CATATATGATTGATTGACCAA	0.289000														52			32		0	0	0.019004	0	0
PSMA8	143471	broad.mit.edu	37	18	23731852	23731852	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr18:23731852A>G	uc002kvq.3	+	2	392	c.278A>G	c.(277-279)aAc>aGc	p.N93S	PSMA8_uc002kvo.3_Missense_Mutation_p.N49S|PSMA8_uc002kvp.3_Missense_Mutation_p.N87S|PSMA8_uc002kvr.3_Missense_Mutation_p.N61S	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 8 (PSMA8), transcript variant 1, mRNA.	93					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GTAGTAATAAACAGAGCCCGT	0.378000														65			27		0	0	0.009535	0	0
CCR5	1234	broad.mit.edu	37	3	46415150	46415150	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr3:46415150A>T	uc003cpo.4	+	2	879	c.757A>T	c.(757-759)Att>Ttt	p.I253F	CCR5_uc010hjd.3_Missense_Mutation_p.I253F|CCR5_uc021wxb.1_Missense_Mutation_p.I253F	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	253					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	C-C chemokine receptor activity|actin binding|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	TCCCTACAACATTGTCCTTCT	0.463000														325			138		0	0	0.014410	0	0
NCOA2	10499	broad.mit.edu	37	8	71126196	71126196	+	Silent	SNP	A	C	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr8:71126196A>C	uc003xyn.1	-	3	363	c.201T>G	c.(199-201)ccT>ccG	p.P67P		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	67					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CACATTTGTCAGGTTTGAAGT	0.303000			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""									29			13		0	0	0.013537	0	0
DDX39B	7919	broad.mit.edu	37	6	31507042	31507042	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr6:31507042T>C	uc003ntt.3	-	2	879	c.221A>G	c.(220-222)gAg>gGg	p.E74G	DDX39B_uc003ntu.3_Missense_Mutation_p.E74G|DDX39B_uc011dnn.2_Intron|DDX39B_uc003ntv.3_Missense_Mutation_p.E74G|DDX39B_uc003ntw.2_Missense_Mutation_p.E74G|DDX39B_uc003ntx.2_Missense_Mutation_p.E74G|DDX39B_uc011dno.1_Intron|DDX39B_uc011dnp.1_Intron|SNORD117_uc003nty.1_5'Flank|DDX39B_uc011dnq.1_Non-coding_Transcript	NM_004640	NP_542165	Q13838	DX39B_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 39B (DDX39B), transcript variant 1, mRNA.	74					RNA secondary structure unwinding|intronless viral mRNA export from host nucleus|spliceosome assembly	nuclear speck|spliceosomal complex|transcription export complex	ATP binding|ATP-dependent RNA helicase activity|ATP-dependent protein binding|U4 snRNA binding|U6 snRNA binding|identical protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						AGGGATGCACTCATGCTGGAC	0.507000														53			41		0	0	0.011902	0	0
TNFSF10	8743	broad.mit.edu	37	3	172224404	172224404	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr3:172224404T>A	uc003fid.3	-	4	847	c.724A>T	c.(724-726)Atc>Ttc	p.I242F	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_3'UTR	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	242					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CCTTGATAGATGGAATAGAGT	0.333000														98			55		0	0	0.014410	0	0
DNAH2	146754	broad.mit.edu	37	17	7674232	7674232	+	Missense_Mutation	SNP	G	A	A	rs140070507		TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr17:7674232G>A	uc002giu.1	+	25	4357	c.4343G>A	c.(4342-4344)cGt>cAt	p.R1448H		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1448	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ACAGTGCAGCGTCAGTGGATG	0.488000														97			16		0	0	0.003163	0	0
CNTN5	53942	broad.mit.edu	37	11	99690367	99690367	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr11:99690367A>C	uc001pga.3	+	3	652	c.148A>C	c.(148-150)Acc>Ccc	p.T50P	CNTN5_uc009ywv.2_Missense_Mutation_p.T50P|CNTN5_uc001pfz.3_Missense_Mutation_p.T50P|CNTN5_uc021qpb.1_Missense_Mutation_p.T50P|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	50					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGGTTCCAAAACCAGACCACG	0.423000														83			12		0	0	0.013537	0	0
QTRTD1	79691	broad.mit.edu	37	3	113798773	113798773	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr3:113798773G>A	uc003eaz.3	+	6	889	c.803G>A	c.(802-804)cGg>cAg	p.R268Q	QTRTD1_uc003eay.3_Missense_Mutation_p.R256Q|QTRTD1_uc011biq.2_Missense_Mutation_p.R133Q|QTRTD1_uc011bir.2_Missense_Mutation_p.R150Q	NM_024638	NP_078914	Q9H974	QTRD1_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase domain containing 1 (QTRTD1), mRNA.	256					queuosine biosynthetic process	mitochondrion	metal ion binding|queuine tRNA-ribosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|skin(2)	10						GGTGTTAGTCGGCCAGATGAG	0.423000														142			92		0	0	0.014410	0	0
GBF1	8729	broad.mit.edu	37	10	104130513	104130513	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr10:104130513C>A	uc001kux.2	+	28	3847	c.3553C>A	c.(3553-3555)Ctc>Atc	p.L1185I	GBF1_uc001kuy.2_Missense_Mutation_p.L1185I|GBF1_uc001kuz.2_Missense_Mutation_p.L1186I	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	1185					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TCTATACCACCTCTGTGTTCA	0.552000														95			52		1.48341e-19	1.76475e-19	0.014410	1	0
PCDHGC5	56097	broad.mit.edu	37	5	140784720	140784720	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr5:140784720G>C	uc003lkh.2	+	0	2201	c.2201G>C	c.(2200-2202)gGt>gCt	p.G734A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.G734A	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	726					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTTGGCTGGTGTGCCCACC	0.572000														45			22		0	0	0.012319	0	0
KRT13	3860	broad.mit.edu	37	17	39658760	39658760	+	Silent	SNP	G	A	A	rs147022064		TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr17:39658760G>A	uc002hwu.1	-	5	1173	c.1110C>T	c.(1108-1110)atC>atT	p.I370I	KRT13_uc002hwv.1_Silent_p.I370I|KRT13_uc010wfr.2_Silent_p.I263I|KRT13_uc010cxo.3_Silent_p.I370I|KRT13_uc021txk.1_Silent_p.I263I	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	370	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.I370I(2)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GCTGGGCCTCGATGCTGCTGA	0.602000														261			5		0	0	0.001168	0	0
SIRPB1	10326	broad.mit.edu	37	20	1551504	1551504	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr20:1551504T>A	uc010gai.3	-	3	1130	c.1031A>T	c.(1030-1032)tAt>tTt	p.Y344F	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	344	Ig-like C1-type 2.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CTCCAGGGCATAGCTTTTGCT	0.507000														101			65		0	0	0.014410	0	0
USP54	159195	broad.mit.edu	37	10	75294429	75294429	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr10:75294429G>A	uc001juo.3	-	9	1261	c.1244C>T	c.(1243-1245)tCt>tTt	p.S415F	USP54_uc001jum.3_Non-coding_Transcript|USP54_uc001jun.3_Intron|USP54_uc001jup.3_Missense_Mutation_p.S415F|USP54_uc010qkl.1_Missense_Mutation_p.S415F	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN	Homo sapiens ubiquitin specific peptidase 54 (USP54), mRNA.	415					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					AGAATCAGAAGAGAAGTGACT	0.498000														47			27		0	0	0.005443	0	0
MMP21	118856	broad.mit.edu	37	10	127455494	127455494	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr10:127455494T>G	uc001liu.3	-	6	1447	c.1447A>C	c.(1447-1449)Aat>Cat	p.N483H		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	Homo sapiens matrix metallopeptidase 21 (MMP21), mRNA.	483	Hemopexin-like 3.				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GGATAAGAATTAAGTACTCGA	0.303000														59			24		0	0	0.016522	0	0
ARHGEF7	8874	broad.mit.edu	37	13	111885553	111885553	+	Splice_Site	SNP	G	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr13:111885553G>A	uc001vrs.2	+	7	984	c.734_splice	c.e7-1	p.E245_splice	ARHGEF7_uc001vrr.2_Splice_Site_p.E224_splice|ARHGEF7_uc001vrt.2_Splice_Site_p.E195_splice|ARHGEF7_uc010tjn.1_Splice_Site|ARHGEF7_uc001vrv.4_Splice_Site_p.E67_splice|ARHGEF7_uc001vrw.4_Splice_Site_p.E67_splice|ARHGEF7_uc001vrx.4_Splice_Site_p.E67_splice|ARHGEF7_uc010tjo.2_Splice_Site_p.E142_splice	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA.	245					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCATTTCAGAGAAGCCTGTGT	0.428000														47			68		0	0	0.014410	0	0
AIM1	202	broad.mit.edu	37	6	106992678	106992678	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr6:106992678C>A	uc003prh.3	+	10	4870	c.3958C>A	c.(3958-3960)Cac>Aac	p.H1320N	AIM1_uc003pri.3_Missense_Mutation_p.H124N	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1320	Beta/gamma crystallin 'Greek key' 7.						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)		TTCAAATGCTCACATGATAAT	0.323000														55			26		2.27525e-19	2.68363e-19	0.021523	1	0
SLC35D3	340146	broad.mit.edu	37	6	137243696	137243696	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr6:137243696G>C	uc003qhe.3	+	0	295	c.130G>C	c.(130-132)Gtg>Ctg	p.V44L		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	Homo sapiens solute carrier family 35, member D3 (SLC35D3), mRNA.	44					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CCTGACCCTGGTGCAGTGCCT	0.677000														22			14		0	0	0.003163	0	0
IL4R	3566	broad.mit.edu	37	16	27374876	27374876	+	Nonsense_Mutation	SNP	C	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr16:27374876C>T	uc002don.3	+	10	2445	c.2203C>T	c.(2203-2205)Cag>Tag	p.Q735*	IL4R_uc002dop.4_Nonsense_Mutation_p.Q720*|IL4R_uc010bxy.3_Nonsense_Mutation_p.Q735*|IL4R_uc002doo.3_Nonsense_Mutation_p.Q575*	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	735					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GGATGGTGGCCAGACCCCTGT	0.647000														74			26		0	0	0.006320	0	0
TBC1D8	11138	broad.mit.edu	37	2	101670697	101670697	+	Silent	SNP	G	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:101670697G>A	uc010fiv.3	-	3	590	c.459C>T	c.(457-459)ttC>ttT	p.F153F	TBC1D8_uc010yvw.2_Silent_p.F168F|TBC1D8_uc002tau.4_5'UTR	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	153	GRAM 1.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	Rab GTPase activator activity|calcium ion binding			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CCGCCTCGGGGAAGTTGAACC	0.617000														3			11		0	0	0.008291	0	0
TAX1BP1	8887	broad.mit.edu	37	7	27856087	27856087	+	Silent	SNP	T	C	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr7:27856087T>C	uc003szl.3	+	13	2066	c.1884T>C	c.(1882-1884)aaT>aaC	p.N628N	TAX1BP1_uc011jzo.2_Intron|TAX1BP1_uc003szk.3_Intron|TAX1BP1_uc011jzp.2_Intron	NM_006024	NP_006015	Q86VP1	TAXB1_HUMAN	Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 1 (TAX1BP1), transcript variant 1, mRNA.	628					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			CATTGTCAAATGCACAACCAG	0.378000														166			86		0	0	0.014410	0	0
TBX4	9496	broad.mit.edu	37	17	59544913	59544913	+	Silent	SNP	G	C	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr17:59544913G>C	uc010ddo.3	+	4	607	c.444G>C	c.(442-444)ctG>ctC	p.L148L	TBX4_uc002izi.3_Silent_p.L148L|TBX4_uc010woy.2_Silent_p.L148L	NM_018488	NP_060958	P57082	TBX4_HUMAN	Homo sapiens T-box 4 (TBX4), mRNA.	148					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CAGGAAGGCTGTATGTCCACC	0.587000														41			18		0	0	0.008871	0	0
C3AR1	719	broad.mit.edu	37	12	8212439	8212439	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr12:8212439C>T	uc001qtv.1	-	1	435	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	C3AR1_uc021quj.1_Missense_Mutation_p.A115T	NM_004054	NP_004045	Q16581	C3AR_HUMAN	Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA.	115					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		AGGCTAATGGCAGTAAGCAGG	0.517000														48			19		0	0	0.007413	0	0
FAM129A	116496	broad.mit.edu	37	1	184943459	184943459	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr1:184943459G>T	uc001gra.3	-	0	224	c.30C>A	c.(28-30)gaC>gaA	p.D10E	FAM129A_uc009wyh.1_Missense_Mutation_p.D10E|FAM129A_uc009wyi.1_5'UTR	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	10					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						ACTTGCCCTCGTCCAGCTGGC	0.726000														5			3		0.00024832	0.00026772	0.009096	1	0
TRPM8	79054	broad.mit.edu	37	2	234847784	234847784	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:234847784T>A	uc002vvh.3	+	4	531	c.491T>A	c.(490-492)aTc>aAc	p.I164N	TRPM8_uc010fyj.3_5'UTR|TRPM8_uc002vvi.3_Missense_Mutation_p.I114N|TRPM8_uc002vvj.3_Missense_Mutation_p.I87N	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	164						integral to membrane		p.K163N(1)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ATGCGCAAGATCTTCAGCCGG	0.607000														38			28		0	0	0.006320	0	0
KIAA1324	57535	broad.mit.edu	37	1	109735396	109735396	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr1:109735396G>T	uc021orb.1	+	13	2068	c.1847G>T	c.(1846-1848)gGa>gTa	p.G616V	KIAA1324_uc009wex.2_Missense_Mutation_p.G566V|KIAA1324_uc010ovg.2_Missense_Mutation_p.G514V|KIAA1324_uc009wey.3_Missense_Mutation_p.G529V|KIAA1324_uc001dwr.3_Missense_Mutation_p.G266V	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	616					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CGAGATTCAGGAACCTGCCAC	0.567000														82			57		1.65906e-26	2.02611e-26	0.014410	1	0
HEATR1	55127	broad.mit.edu	37	1	236749736	236749736	+	Missense_Mutation	SNP	T	C	C	rs149170515		TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr1:236749736T>C	uc001hyd.2	-	14	1884	c.1732A>G	c.(1732-1734)Ata>Gta	p.I578V		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	578					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TCAGCGGCTATCTTAAGTACC	0.368000														88			48		0	0	0.013114	0	0
ProSAPiP1	9762	broad.mit.edu	37	20	3146663	3146663	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr20:3146663G>A	uc002wia.1	-	1	2201	c.803C>T	c.(802-804)tCg>tTg	p.S268L	ProSAPiP1_uc002wib.1_Missense_Mutation_p.S268L	NM_014731	NP_055546	O60299	PRIP1_HUMAN	Homo sapiens ProSAPiP1 protein (ProSAPiP1), mRNA.	268						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CTGGTAGCCCGACCCCCCACC	0.662000														42			3		0	0	0.009096	0	0
PAPPA	5069	broad.mit.edu	37	9	118997553	118997553	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr9:118997553C>G	uc004bjn.3	+	6	2750	c.2369C>G	c.(2368-2370)cCc>cGc	p.P790R	PAPPA_uc011lxp.1_Missense_Mutation_p.P485R|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	790					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TTCCTCTACCCCTTGGTCCCT	0.567000														48			27		0	0	0.007291	0	0
HEATR1	55127	broad.mit.edu	37	1	236738095	236738095	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr1:236738095C>T	uc001hyd.2	-	22	3345	c.3193G>A	c.(3193-3195)Gga>Aga	p.G1065R	HEATR1_uc009xgh.2_Intron	NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	1065					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTATACTTTCCCAGAGTGAGA	0.423000														56			40		0	0	0.005524	0	0
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr1:16918653C>T	uc009vos.1	-	6	853	c.-35_splice	c.e6+1		NBPF1_uc010oce.1_Intron	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418000														45			4		0	0	0.009096	0	0
ALMS1	7840	broad.mit.edu	37	2	73680677	73680677	+	Silent	SNP	T	C	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:73680677T>C	uc002sje.1	+	7	7131	c.7020T>C	c.(7018-7020)aaT>aaC	p.N2340N	ALMS1_uc002sjf.1_Silent_p.N2298N|ALMS1_uc002sjg.3_Silent_p.N1728N|ALMS1_uc002sjh.1_Silent_p.N1728N	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2340					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.T2339T(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CACAGACGAATTTGAAATGCC	0.448000														50			13		0	0	0.013537	0	0
PEX1	5189	broad.mit.edu	37	7	92119227	92119227	+	Splice_Site	SNP	T	C	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr7:92119227T>C	uc003uly.3	-	22	3535	c.3439_splice	c.e22-1	p.S1147_splice	PEX1_uc011khr.2_Splice_Site_p.S939_splice|PEX1_uc010ley.3_Splice_Site_p.S1090_splice|PEX1_uc011khs.2_Splice_Site_p.S825_splice	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	1147					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TTGTGAGCTCTGCATGGTAAA	0.393000														21			18		0	0	0.008871	0	0
FYCO1	79443	broad.mit.edu	37	3	46009968	46009968	+	Silent	SNP	C	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr3:46009968C>T	uc011bal.1	-	6	970	c.858G>A	c.(856-858)gaG>gaA	p.E286E	FYCO1_uc003cpb.4_Silent_p.E286E	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	286					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GAACGTTGTCCTCCGCTGCAG	0.617000														59			18		0	0	0.006122	0	0
AKAP9	10142	broad.mit.edu	37	7	91631868	91631868	+	Silent	SNP	A	G	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr7:91631868A>G	uc003ulg.3	+	7	2862	c.2637A>G	c.(2635-2637)gaA>gaG	p.E879E	AKAP9_uc003ule.2_Silent_p.E891E|AKAP9_uc003ulf.3_Silent_p.E879E|AKAP9_uc003uli.3_Silent_p.E504E	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	891	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)			ATGATTTAGAAGACAGTAAAA	0.294000			T	BRAF	papillary thyroid									46			21		0	0	0.008871	0	0
CD180	4064	broad.mit.edu	37	5	66478708	66478708	+	Silent	SNP	T	G	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr5:66478708T>G	uc003juy.2	-	2	2111	c.1963A>C	c.(1963-1965)Agg>Cgg	p.R655R		NM_005582	NP_005573	Q99467	CD180_HUMAN	Homo sapiens CD180 molecule (CD180), mRNA.	655					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)		TATTTCCACCTGAGAAGGTAT	0.373000														29			16		0	0	0.003163	0	0
EID3	493861	broad.mit.edu	37	12	104698219	104698219	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr12:104698219T>A	uc001tkw.3	+	0	710	c.507T>A	c.(505-507)caT>caA	p.H169Q	TXNRD1_uc021rcx.1_Intron|TXNRD1_uc021rcy.1_Intron|TXNRD1_uc021rcz.1_Intron|TXNRD1_uc021rda.1_Intron|TXNRD1_uc021rdb.1_Intron|TXNRD1_uc010swp.2_Intron|TXNRD1_uc010swq.2_Intron|TXNRD1_uc001tku.3_Intron|TXNRD1_uc001tkv.2_Intron	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN	Homo sapiens EP300 interacting inhibitor of differentiation 3 (EID3), mRNA.	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AGACATTCCATTTTGTTTTTG	0.418000														138			105		0	0	0.014410	0	0
SORCS1	114815	broad.mit.edu	37	10	108412294	108412294	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr10:108412294G>A	uc001kyl.3	-	17	2503	c.2321C>T	c.(2320-2322)tCc>tTc	p.S774F	SORCS1_uc021pxw.1_Missense_Mutation_p.S774F|SORCS1_uc009xxs.3_Missense_Mutation_p.S774F|SORCS1_uc001kym.3_Missense_Mutation_p.S774F|SORCS1_uc001kyn.2_Missense_Mutation_p.S774F|SORCS1_uc001kyo.3_Missense_Mutation_p.S774F	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	774						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GCAATTATTGGAAACCACCTT	0.468000														59			28		0	0	0.009535	0	0
DENND5B	160518	broad.mit.edu	37	12	31586145	31586145	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr12:31586145T>C	uc001rkh.1	-	9	2306	c.2155A>G	c.(2155-2157)Aaa>Gaa	p.K719E	DENND5B_uc001rki.1_Missense_Mutation_p.K684E|DENND5B_uc001rkj.3_Missense_Mutation_p.K706E	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	684						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGGCGTTCTTTCCTGCGCTGT	0.473000														107			34		0	0	0.010771	0	0
TRIM36	55521	broad.mit.edu	37	5	114469835	114469835	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr5:114469835A>G	uc003kqs.3	-	7	1765	c.1256T>C	c.(1255-1257)gTg>gCg	p.V419A	TRIM36_uc011cwc.2_Missense_Mutation_p.V407A|TRIM36_uc003kqt.3_Missense_Mutation_p.V264A	NM_018700	NP_061170	Q9NQ86	TRI36_HUMAN	Homo sapiens tripartite motif containing 36 (TRIM36), transcript variant 1, mRNA.	419	Fibronectin type-III.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GATCTCTGGCACGTCTATGCC	0.313000														25			11		0	0	0.008291	0	0
DGAT2	84649	broad.mit.edu	37	11	75509461	75509461	+	Silent	SNP	C	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr11:75509461C>T	uc001oxa.3	+	6	1258	c.999C>T	c.(997-999)ccC>ccT	p.P333P	DGAT2_uc001oxb.3_Silent_p.P290P	NM_032564	NP_115953	Q96PD7	DGAT2_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2 (DGAT2), transcript variant 1, mRNA.	333					glycerol metabolic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			endometrium(3)|large_intestine(5)|lung(5)|prostate(2)|skin(2)	17	Ovarian(111;0.103)					ACTCCAAGCCCATCACCACTG	0.552000														29			14		0	0	0.003163	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140856636	140856636	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr5:140856636A>G	uc003lkv.2	+	0	1068	c.953A>G	c.(952-954)cAt>cGt	p.H318R	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Missense_Mutation_p.H318R|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	316	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAAACTCCATGAGATTTAC	0.557000														53			30		0	0	0.009535	0	0
LRRC41	10489	broad.mit.edu	37	1	46751890	46751890	+	Silent	SNP	T	G	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr1:46751890T>G	uc001cpn.3	-	3	683	c.639A>C	c.(637-639)tcA>tcC	p.S213S	LRRC41_uc010omb.2_Silent_p.S213S|LRRC41_uc001cpo.1_Silent_p.S213S	NM_006369	NP_006360	Q15345	LRC41_HUMAN	Homo sapiens leucine rich repeat containing 41 (LRRC41), mRNA.	213										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GCTGCCGAAGTGACTGCTGAG	0.572000														36			18		0	0	0.007413	0	0
ZNF57	126295	broad.mit.edu	37	19	2917763	2917763	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr19:2917763C>T	uc002lwr.3	+	3	1292	c.1144C>T	c.(1144-1146)Cat>Tat	p.H382Y	ZNF57_uc010xha.2_Missense_Mutation_p.H350Y	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	Homo sapiens zinc finger protein 57 (ZNF57), mRNA.	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTTAGAGAACATGTGAGAAT	0.448000														69			48		0	0	0.014410	0	0
SMG1	23049	broad.mit.edu	37	16	18841597	18841597	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr16:18841597C>T	uc002dfm.3	-	51	9250	c.8887G>A	c.(8887-8889)Gca>Aca	p.A2963T	SMG1_uc010bwb.3_Missense_Mutation_p.A2823T|SMG1_uc010bwa.3_Missense_Mutation_p.A1694T	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	2963					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCATCGAATGCTACCAAAAGC	0.393000														23			19		0	0	0.007413	0	0
COX10	1352	broad.mit.edu	37	17	13977738	13977738	+	Missense_Mutation	SNP	A	C	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr17:13977738A>C	uc002gof.4	+	1	346	c.142A>C	c.(142-144)Att>Ctt	p.I48L	COX10_uc010vvs.2_5'UTR|COX10_uc010vvt.2_5'UTR	NM_001303	NP_001294	Q12887	COX10_HUMAN	Homo sapiens COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) (COX10), nuclear gene encoding mitochondrial protein, mRNA.	48					heme O biosynthetic process|heme a biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TAAGCAGTGGATTACATTTCA	0.408000														176			90		0	0	0.014410	0	0
NPIP	9284	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr16:15457701G>A	uc010bvf.1	-	8	812	c.812C>T	c.(811-813)gCt>gTt	p.A271V				Q9UND3	NPIP_HUMAN	RecName: Full=NPIP-like protein 1;	273	Pro-rich.				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore		p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562000														163			4		0	0	0.009096	0	0
NKD1	85407	broad.mit.edu	37	16	50667463	50667463	+	Missense_Mutation	SNP	C	G	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr16:50667463C>G	uc002egg.2	+	9	1408	c.1184C>G	c.(1183-1185)gCc>gGc	p.A395G		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	395					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		CCCTCCCTAGCCCCCCTCGGG	0.721000														20			10		0	0	0.008291	0	0
PRKDC	5591	broad.mit.edu	37	8	48826505	48826505	+	Nonsense_Mutation	SNP	G	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr8:48826505G>A	uc003xqi.3	-	23	2794	c.2737C>T	c.(2737-2739)Cga>Tga	p.R913*	PRKDC_uc003xqj.3_Nonsense_Mutation_p.R913*	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	913					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.V909_L917delVFLPRVTEL(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TCTGTGACTCGAGGCAGGAAC	0.428000								Non-homologous end-joining						105			49		0	0	0.014410	0	0
PHRF1	57661	broad.mit.edu	37	11	601639	601639	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr11:601639T>C	uc001lqe.3	+	9	1221	c.1090T>C	c.(1090-1092)Tca>Cca	p.S364P	PHRF1_uc010qwc.2_Missense_Mutation_p.S364P|PHRF1_uc010qwd.2_Missense_Mutation_p.S363P|PHRF1_uc010qwe.2_Missense_Mutation_p.S360P|PHRF1_uc009ybz.1_Missense_Mutation_p.S155P	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	364	Arg-rich.						RNA polymerase binding|zinc ion binding	p.S363C(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						AAGTAAGAGCTCAGCGACAAG	0.507000														25			25		0	0	0.021523	0	0
SLC7A2	6542	broad.mit.edu	37	8	17401959	17401959	+	Splice_Site	SNP	G	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr8:17401959G>T	uc011kye.2	+	3	545	c.497_splice	c.e3-1	p.G166_splice	SLC7A2_uc011kyc.2_Splice_Site_p.G126_splice|SLC7A2_uc011kyd.2_Splice_Site_p.G166_splice	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	126					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GTTTTGGGAAGGTACATCAAG	0.388000														74			33		2.19358e-23	2.65539e-23	0.005524	1	0
ADAD1	132612	broad.mit.edu	37	4	123336554	123336554	+	Missense_Mutation	SNP	A	G	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr4:123336554A>G	uc003ieo.3	+	10	1502	c.1270A>G	c.(1270-1272)Acc>Gcc	p.T424A	ADAD1_uc003iep.3_Missense_Mutation_p.T413A|ADAD1_uc003ieq.3_Missense_Mutation_p.T406A	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	424	A to I editase.				RNA processing|multicellular organismal development	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTGCAGTGATACCAGAGGCTT	0.333000														107			8		0	0	0.003080	0	0
ARHGAP39	80728	broad.mit.edu	37	8	145806407	145806407	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr8:145806407T>C	uc003zds.1	-	3	890	c.335A>G	c.(334-336)aAc>aGc	p.N112S	ARHGAP39_uc011llk.1_Missense_Mutation_p.N112S|ARHGAP39_uc003zdt.1_Missense_Mutation_p.N112S	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	112					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GGACTCCGTGTTCTGCTTCAG	0.706000														9			6		0	0	0.001168	0	0
PLK4	10733	broad.mit.edu	37	4	128804442	128804442	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr4:128804442C>T	uc003ifo.3	+	2	426	c.152C>T	c.(151-153)gCa>gTa	p.A51V	PLK4_uc011cgs.2_Intron|PLK4_uc011cgt.2_Missense_Mutation_p.A10V	NM_014264	NP_001177730	O00444	PLK4_HUMAN	Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA.	51	Protein kinase.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						ATGTACAAAGCAGGAATGGTA	0.308000														26			8		0	0	0.008291	0	0
CNEP1R1	255919	broad.mit.edu	37	16	50059600	50059600	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr16:50059600G>A	uc002eft.3	+	1	102	c.64G>A	c.(64-66)Ggt>Agt	p.G22S	CNEP1R1_uc002efu.3_Intron|CNEP1R1_uc002efv.3_Intron	NM_153261	NP_694993	Q8N9A8	TM188_HUMAN	Homo sapiens transmembrane protein 188 (TMEM188), mRNA.	8						integral to membrane											GGTGGTTTCCGGTAACTGCCA	0.512000														50			3		0	0	0.009096	0	0
C19orf40	91442	broad.mit.edu	37	19	33467343	33467343	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr19:33467343G>C	uc002nud.4	+	4	521	c.403G>C	c.(403-405)Gag>Cag	p.E135Q		NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN	Homo sapiens chromosome 19 open reading frame 40 (C19orf40), mRNA.	135					DNA repair	Fanconi anaemia nuclear complex	DNA binding|chromatin binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					TCAGGTTCAAGAGCAAACCAA	0.502000								Direct reversal of damage			OREG0025408	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		135			3		0	0	0.004672	0	0
GOLPH3	64083	broad.mit.edu	37	5	32126417	32126417	+	Missense_Mutation	SNP	C	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr5:32126417C>A	uc003jhp.1	-	3	1083	c.798G>T	c.(796-798)aaG>aaT	p.K266N		NM_022130	NP_071413	Q9H4A6	GOLP3_HUMAN	Homo sapiens golgi phosphoprotein 3 (coat-protein) (GOLPH3), mRNA.	266					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	Golgi cisterna membrane|cytosol|endosome|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						GCCGCACTCTCTTGGTAGCCA	0.552000														92			23		1.2476e-16	1.4468e-16	0.006320	1	0
CAD	790	broad.mit.edu	37	2	27440797	27440797	+	Nonsense_Mutation	SNP	C	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:27440797C>A	uc002rji.3	+	1	297	c.135C>A	c.(133-135)taC>taA	p.Y45*	CAD_uc010eyw.3_Nonsense_Mutation_p.Y45*	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	45	GATase (Glutamine amidotransferase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	ATP binding|aspartate binding|aspartate carbamoyltransferase activity|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity	p.S44F(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ATCCCTCCTACAAGGCACAGA	0.572000														69			45		1.57945e-13	1.7866e-13	0.011902	1	0
NCSTN	23385	broad.mit.edu	37	1	160326495	160326495	+	Missense_Mutation	SNP	C	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr1:160326495C>T	uc001fvx.3	+	14	1869	c.1745C>T	c.(1744-1746)aCc>aTc	p.T582I	NCSTN_uc001fvy.3_Missense_Mutation_p.T562I|NCSTN_uc010pjf.2_Missense_Mutation_p.T444I|NCSTN_uc010pjg.2_Missense_Mutation_p.T324I	NM_015331	NP_056146	Q92542	NICA_HUMAN	Homo sapiens nicastrin (NCSTN), mRNA.	582					Notch receptor processing|Notch signaling pathway|amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|positive regulation of catalytic activity|protein processing	Golgi apparatus|endoplasmic reticulum|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTCAACCTCACCCGAGAGCAG	0.532000														79			30		0	0	0.006320	0	0
ZNF679	168417	broad.mit.edu	37	7	63721262	63721262	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr7:63721262G>A	uc003tsx.3	+	3	486	c.217G>A	c.(217-219)Gag>Aag	p.E73K		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K72E(1)		endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						GCAAAATAAAGAGCCTTGGAA	0.378000														26			22		0	0	0.014323	0	0
TRIM23	373	broad.mit.edu	37	5	64905230	64905230	+	Missense_Mutation	SNP	A	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr5:64905230A>T	uc003jty.3	-	5	970	c.884T>A	c.(883-885)cTa>cAa	p.L295Q	TRIM23_uc003jtw.3_Missense_Mutation_p.L295Q|TRIM23_uc003jtx.3_Missense_Mutation_p.L295Q	NM_001656	NP_001647	P36406	TRI23_HUMAN	Homo sapiens tripartite motif containing 23 (TRIM23), transcript variant alpha, mRNA.	295					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)		AGTTTCATGTAGATCATAAAA	0.363000														44			19		0	0	0.012319	0	0
SDAD1	55153	broad.mit.edu	37	4	76877179	76877179	+	Silent	SNP	C	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr4:76877179C>T	uc003hje.4	-	20	2084	c.1965G>A	c.(1963-1965)cgG>cgA	p.R655R	SDAD1_uc003hjf.4_Silent_p.R558R|SDAD1_uc011cbr.2_Silent_p.R618R	NM_018115	NP_060585	Q9NVU7	SDA1_HUMAN	Homo sapiens SDA1 domain containing 1 (SDAD1), mRNA.	655					protein transport|ribosomal large subunit biogenesis	nucleolus	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTGGCTATACCGCATCATCA	0.393000														172			85		0	0	0.014410	0	0
AMIGO2	347902	broad.mit.edu	37	12	47471984	47471984	+	Missense_Mutation	SNP	G	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr12:47471984G>T	uc001rpm.3	-	2	1457	c.802C>A	c.(802-804)Cac>Aac	p.H268N	FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.H268N|AMIGO2_uc001rpl.3_Missense_Mutation_p.H268N|AMIGO2_uc021qxg.1_Missense_Mutation_p.H268N	NM_001143668	NP_862830	Q86SJ2	AMGO2_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA.	268	LRRCT.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane		p.H268N(4)		endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					TGACGCGAGTGCCTGGAGTCA	0.478000														58			6		0.00116845	0.00124996	0.001168	1	0
DPP3	10072	broad.mit.edu	37	11	66260242	66260242	+	Silent	SNP	G	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr11:66260242G>A	uc001oig.1	+	9	1106	c.1044G>A	c.(1042-1044)gcG>gcA	p.A348A	DPP3_uc001oif.1_Silent_p.A348A|DPP3_uc010rpe.1_Silent_p.A337A	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	348					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						GGCTGGTGGCGAGCGCAGAGC	0.602000														71			52		0	0	0.014410	0	0
OTOP1	133060	broad.mit.edu	37	4	4199007	4199007	+	Silent	SNP	C	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr4:4199007C>T	uc003ghp.1	-	4	1584	c.1554G>A	c.(1552-1554)gaG>gaA	p.E518E		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	518					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCCAGCTGCTCTCCTCCTGCT	0.567000														61			22		0	0	0.012319	0	0
GPBP1	65056	broad.mit.edu	37	5	56545332	56545332	+	Missense_Mutation	SNP	T	G	G			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr5:56545332T>G	uc003jrk.4	+	7	979	c.922T>G	c.(922-924)Ttt>Gtt	p.F308V	GPBP1_uc003jrh.4_Missense_Mutation_p.F301V|GPBP1_uc003jri.4_Missense_Mutation_p.F130V|GPBP1_uc003jrj.4_Missense_Mutation_p.F293V|GPBP1_uc021xyv.1_Missense_Mutation_p.F130V	NM_001127236	NP_001190175	Q86WP2	GPBP1_HUMAN	Homo sapiens GC-rich promoter binding protein 1 (GPBP1), transcript variant 2, mRNA.	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GAAGAGTGAATTTTTGAAAGC	0.388000														66			31		0	0	0.008361	0	0
LMTK2	22853	broad.mit.edu	37	7	97823720	97823720	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr7:97823720G>C	uc003upd.2	+	10	4236	c.3943G>C	c.(3943-3945)Gag>Cag	p.E1315Q		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1315					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	Golgi apparatus|early endosome|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GGACGAGACCGAGCACCCCGT	0.642000														81			39		0	0	0.007835	0	0
OSCP1	127700	broad.mit.edu	37	1	36915923	36915923	+	Silent	SNP	C	T	T			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr1:36915923C>T	uc001caq.3	-	0	164	c.48G>A	c.(46-48)gaG>gaA	p.E16E	OSCP1_uc021olk.1_Silent_p.E16E|OSCP1_uc001car.3_Silent_p.E16E	NM_145047	NP_659484	Q8WVF1	OSCP1_HUMAN	Homo sapiens organic solute carrier partner 1 (OSCP1), transcript variant 1, mRNA.	16					transport	basal plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						TGTAAAGCATCTCCCCGCCCA	0.652000														44			30		0	0	0.010818	0	0
PHF20L1	51105	broad.mit.edu	37	8	133854952	133854952	+	Missense_Mutation	SNP	G	C	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr8:133854952G>C	uc003ytt.3	+	18	2905	c.2580G>C	c.(2578-2580)gaG>gaC	p.E860D	PHF20L1_uc011lja.2_Missense_Mutation_p.E834D	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	860							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TAACAAGTGAGCATAGCTATC	0.398000														48			44		0	0	0.011902	0	0
LNPEP	4012	broad.mit.edu	37	5	96328816	96328816	+	Missense_Mutation	SNP	T	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr5:96328816T>A	uc003kmv.1	+	4	1743	c.1229T>A	c.(1228-1230)aTt>aAt	p.I410N	LNPEP_uc003kmw.1_Missense_Mutation_p.I396N	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	410					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TACTTTGAAATTCAGTACCCA	0.303000														58			41		0	0	0.005524	0	0
UNC13A	23025	broad.mit.edu	37	19	17778940	17778940	+	Missense_Mutation	SNP	G	A	A			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr19:17778940G>A	uc021uqk.1	-	5	496	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	152					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TCCTGGTCCCGCATAGCATTG	0.537000														39			3		0	0	0.004672	0	0
FMO4	2329	broad.mit.edu	37	1	171303822	171303822	+	Missense_Mutation	SNP	T	C	C			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr1:171303822T>C	uc001gho.3	+	7	1317	c.1100T>C	c.(1099-1101)aTc>aCc	p.I367T		NM_002022	NP_002013	P31512	FMO4_HUMAN	Homo sapiens flavin containing monooxygenase 4 (FMO4), mRNA.	367					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	NADP binding|flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ACATTAGCCATCATCGGCCTT	0.413000														82			31		0	0	0.021022	0	0
HAX1	10456	broad.mit.edu	37	1	154245864	154245866	+	In_Frame_Del	DEL	GAA	-	-	rs11556342		TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr1:154245864_154245866delGAA	uc010peo.2	+	1	267_269	c.106_108delGAA	c.(106-108)gaadel	p.E40del	HAX1_uc001fet.3_Intron|HAX1_uc001fes.3_In_Frame_Del_p.E40del|HAX1_uc009wou.3_5'UTR	NM_006118	NP_006109	O00165	HAX1_HUMAN	Homo sapiens HCLS1 associated protein X-1 (HAX1), transcript variant 1, mRNA.	40	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGATGATGAGGAAGAAGAAGAAG	0.522									Kostmann syndrome				---	133	---	---	7	---					
USP34	9736	broad.mit.edu	37	2	61505306	61505306	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:61505306delT	uc002sbe.3	-	40	5449	c.5427delA	c.(5425-5427)gaafs	p.E1809fs	USP34_uc002sbf.3_5'UTR	NM_014709	NP_055524	Q70CQ2	UBP34_HUMAN	Homo sapiens ubiquitin specific peptidase 34 (USP34), mRNA.	1809					Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTACCTGTCCTTCCCTTGAAA	0.343													---	26	---	---	12	---					
EPHA4	2043	broad.mit.edu	37	2	222365873	222365873	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr2:222365873delG	uc002vmq.3	-	3	885	c.843delC	c.(841-843)tacfs	p.Y281fs	EPHA4_uc002vmr.2_Frame_Shift_Del_p.Y281fs|EPHA4_uc010zlm.1_Frame_Shift_Del_p.Y222fs	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	281	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		AGAGAGCCTTGTAATATCCAA	0.483													---	35	---	---	57	---					
ZNF502	91392	broad.mit.edu	37	3	44762384	44762384	+	Frame_Shift_Del	DEL	G	-	-			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr3:44762384delG	uc011baa.2	+	3	330	c.75delG	c.(73-75)aagfs	p.K25fs	ZNF502_uc003cns.3_Frame_Shift_Del_p.K25fs|ZNF502_uc011bab.2_Frame_Shift_Del_p.K25fs|ZNF502_uc003cnt.3_Frame_Shift_Del_p.K25fs	NM_001134440	NP_149987	Q8TBZ5	ZN502_HUMAN	Homo sapiens zinc finger protein 502 (ZNF502), transcript variant 2, mRNA.	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		ACAAGAACAAGCCTGCTCTGG	0.418													---	83	---	---	33	---					
FAT1	2195	broad.mit.edu	37	4	187540288	187540291	+	Frame_Shift_Del	DEL	TCCA	-	-			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr4:187540288_187540291delTCCA	uc003izf.3	-	9	7637_7640	c.7449_7452delTGGA	c.(7447-7452)attggafs	p.I2483fs		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2483	Cadherin 22.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCAAATTGCCTCCAATTACAGTTA	0.471										HNSCC(5;0.00058)			---	297	---	---	90	---					
TPST1	8460	broad.mit.edu	37	7	65705943	65705964	+	Frame_Shift_Del	DEL	CAAATTTCTCCTGATGGTCCGA	-	-			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr7:65705943_65705964delCAAATTTCTCCTGATGGTCCGA	uc003tuw.3	+	1	883_904	c.531_552delCAAATTTCTCCTGATGGTCCGA	c.(529-552)gccaaatttctcctgatggtccgafs	p.A177fs	TPST1_uc010kzy.2_Intron	NM_003596	NP_003587	O60507	TPST1_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 1 (TPST1), mRNA.	177					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						TCCCCAATGCCAAATTTCTCCTGATGGTCCGAGATGGCCGGG	0.405													---	74	---	---	8	---					
DMTF1	9988	broad.mit.edu	37	7	86802963	86802966	+	Splice_Site	DEL	AAGG	-	-	rs138809401		TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr7:86802963_86802966delAAGG	uc003uih.3	+	6	768	c.442_splice	c.e6+1	p.G148_splice	DMTF1_uc003uii.3_Splice_Site|DMTF1_uc003uij.3_Splice_Site|DMTF1_uc011khb.2_Splice_Site_p.G60_splice|DMTF1_uc003uik.3_Splice_Site|DMTF1_uc003uil.3_Splice_Site_p.G148_splice|DMTF1_uc003uim.1_Splice_Site_p.G148_splice|DMTF1_uc003uin.3_Splice_Site	NM_001142327	NP_001135798	Q9Y222	DMTF1_HUMAN	Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA.	148	Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					CTGACTAATAAAGGTAAGATAACA	0.382													---	42	---	---	12	---					
ADAMDEC1	27299	broad.mit.edu	37	8	24256052	24256052	+	Frame_Shift_Del	DEL	C	-	-	rs2291576	byFrequency	TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr8:24256052delC	uc003xdz.2	+	7	970	c.750delC	c.(748-750)aacfs	p.N250fs	ADAMDEC1_uc010lub.2_Frame_Shift_Del_p.N171fs|ADAMDEC1_uc011lab.1_Frame_Shift_Del_p.N171fs	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	250	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		ATGTGATGAACCTACTCAATG	0.338													---	113	---	---	55	---					
SYBU	55638	broad.mit.edu	37	8	110587763	110587763	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr8:110587763delT	uc010mcp.3	-	7	1726	c.1364delA	c.(1363-1365)gacfs	p.D455fs	SYBU_uc003yni.4_Frame_Shift_Del_p.D452fs|SYBU_uc003ynk.4_Frame_Shift_Del_p.D336fs|SYBU_uc003ynj.4_Frame_Shift_Del_p.D455fs|SYBU_uc010mco.3_Frame_Shift_Del_p.D454fs|SYBU_uc003ynl.4_Frame_Shift_Del_p.D454fs|SYBU_uc010mcq.3_Frame_Shift_Del_p.D455fs|SYBU_uc003yno.4_Frame_Shift_Del_p.D336fs|SYBU_uc010mcr.3_Frame_Shift_Del_p.D455fs|SYBU_uc003ynm.4_Frame_Shift_Del_p.D454fs|SYBU_uc003ynn.4_Frame_Shift_Del_p.D454fs|SYBU_uc010mcs.3_Frame_Shift_Del_p.D336fs|SYBU_uc010mct.3_Frame_Shift_Del_p.D455fs|SYBU_uc010mcu.3_Frame_Shift_Del_p.D454fs|SYBU_uc003ynp.4_Frame_Shift_Del_p.D387fs|SYBU_uc010mcv.3_Frame_Shift_Del_p.D455fs|SYBU_uc003ynh.4_Frame_Shift_Del_p.D249fs|SYBU_uc011lhw.2_Frame_Shift_Del_p.D325fs	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	455						Golgi membrane|cytoplasmic membrane-bounded vesicle|cytoskeleton|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						AAGCTCCAGGTCACCAGATTC	0.577													---	82	---	---	40	---					
JMJD1C	221037	broad.mit.edu	37	10	64960365	64960365	+	Frame_Shift_Del	DEL	A	-	-			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr10:64960365delA	uc001jmn.3	-	10	5447	c.5147delT	c.(5146-5148)ttafs	p.L1716fs	JMJD1C_uc001jml.3_Frame_Shift_Del_p.L1497fs|JMJD1C_uc001jmm.3_Frame_Shift_Del_p.L1428fs|JMJD1C_uc010qiq.2_Frame_Shift_Del_p.L1534fs|JMJD1C_uc009xpi.3_Frame_Shift_Del_p.L1534fs|JMJD1C_uc009xpj.2_Intron|JMJD1C_uc009xpk.1_Intron	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1716					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GTCATCCTGTAAAAAGGATTC	0.413													---	59	---	---	32	---					
DENND5B	160518	broad.mit.edu	37	12	31586129	31586130	+	In_Frame_Ins	INS	-	GGCGAA	GGCGAA			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr12:31586129_31586130insGGCGAA	uc001rkh.1	-	9	2321_2322	c.2170_2171insTTCGCC	c.(2170-2172)cag>cTTCGCCag	p.723_724insLR	DENND5B_uc001rki.1_In_Frame_Ins_p.688_689insLR|DENND5B_uc001rkj.3_In_Frame_Ins_p.710_711insLR	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	688						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTCAGAATGCTGGCGAAGGCGT	0.480													---	178	---	---	25	---					
TMTC3	160418	broad.mit.edu	37	12	88566417	88566417	+	Frame_Shift_Del	DEL	T	-	-			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr12:88566417delT	uc001tau.3	+	7	1314	c.1094delT	c.(1093-1095)cttfs	p.L365fs	TMTC3_uc009zsm.2_Non-coding_Transcript	NM_181783	NP_861448	Q6ZXV5	TMTC3_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 3 (TMTC3), mRNA.	365						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						GCATCGAACCTTTTTTTTCCA	0.313													---	245	---	---	8	---					
KANK3	256949	broad.mit.edu	37	19	8398950	8398961	+	In_Frame_Del	DEL	TCGCTGTCGCCA	-	-	rs111751275		TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chr19:8398950_8398961delTCGCTGTCGCCA	uc010dwa.3	-	4	1533_1544	c.1467_1478delTGGCGACAGCGA	c.(1465-1479)gatggcgacagcgag>gag	p.DGDS489del	KANK3_uc002mjp.1_In_Frame_Del_p.MATA1del	NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA.	489								p.D489_S492delDGDS(4)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC	0.717													---	3	---	---	3	---					
KLHL4	56062	broad.mit.edu	37	X	86887393	86887404	+	In_Frame_Del	DEL	GGACTGTGATGC	-	-			TCGA-BQ-5885-01A-11D-1589-08	TCGA-BQ-5885-11A-01D-1589-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fefc32ae-2b8e-46c8-8a7b-d536f9c71568	762ffc49-9149-4ea9-9dce-33e726dee43d	g.chrX:86887393_86887404delGGACTGTGATGC	uc004efa.2	+	6	1690_1701	c.1508_1519delGGACTGTGATGC	c.(1507-1521)tggactgtgatgcct>tct	p.503_507WTVMP>S	KLHL4_uc004efb.2_In_Frame_Del_p.503_507WTVMP>S	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	503						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GGCAAAATCTGGACTGTGATGCCTCCCATGTC	0.373													---	8	---	---	6	---					
