Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MFSD2A	84879	broad.mit.edu	37	1	40434030	40434030	+	Silent	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:40434030C>T	ENST00000372809.5	+	12	1415	c.1272C>T	c.(1270-1272)gaC>gaT	p.D424D	MFSD2A_ENST00000372811.5_Silent_p.D411D|MFSD2A_ENST00000480630.1_3'UTR|MFSD2A_ENST00000420632.2_Silent_p.D255D	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	424					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						ATGTCATTGACGACTTCCATC	0.537000													4	226					0	0	1	0	0
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													8	307					0	0	1	0	0
PGK1	5230	broad.mit.edu	37	X	77380480	77380480	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:77380480C>T	ENST00000373316.4	+	9	1213	c.1046C>T	c.(1045-1047)gCc>gTc	p.A349V	PGK1_ENST00000537456.1_Missense_Mutation_p.A321V|PGK1_ENST00000476531.1_3'UTR|PGK1_ENST00000442431.1_Missense_Mutation_p.A213V	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	349					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						GAAGCTTTTGCCCGGGGAACC	0.502000													5	395					0	0	1	0	0
PLXNA2	5362	broad.mit.edu	37	1	208218554	208218554	+	Splice_Site	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:208218554C>T	ENST00000367033.3	-	19	4254	c.3495_splice	c.e19-1	p.G1166_splice		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1166	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GAGGTTTTTGCCCTGTAGAGA	0.498000													5	575					0	0	1	0	0
AGAP10	728127	broad.mit.edu	37	10	47207813	47207813	+	Splice_Site	SNP	T	T	C			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr10:47207813T>C	ENST00000355232.3	-	5	3482	c.471_splice	c.e5+1	p.H157_splice	AGAP10_ENST00000413193.2_Splice_Site_p.H228_splice|RP11-144G6.12_ENST00000605970.1_RNA|AGAP10_ENST00000452145.2_Splice_Site_p.H132_splice					ArfGAP with GTPase domain, ankyrin repeat and PH domain 10									p.H228R(20)		endometrium(5)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	12						TTTACTTACATGGTTTGTACA	0.294000													16	340					0	0	1	0	0
FAM5B	0	broad.mit.edu	37	1	177245375	177245375	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:177245375G>A	ENST00000361539.4	+	6	1129	c.817G>A	c.(817-819)Gta>Ata	p.V273I	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		273						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						TGAGCGCTTTGTAGCTGCAGC	0.552000													39	557					0	0	1	0	0
OR10C1	442194	broad.mit.edu	37	6	29408448	29408448	+	Missense_Mutation	SNP	G	G	A	rs74711365		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:29408448G>A	ENST00000444197.2	+	1	1366	c.656G>A	c.(655-657)cGt>cAt	p.R219H	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCCTACGGGCGTATCCTCGTT	0.582000													7	866					0	0	1	0	0
ANAPC2	29882	broad.mit.edu	37	9	140082360	140082360	+	Missense_Mutation	SNP	G	G	C			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:140082360G>C	ENST00000323927.2	-	2	317	c.313C>G	c.(313-315)Ccc>Gcc	p.P105A		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	105					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		AGGCACTGGGGCTCATCCGCA	0.582000													30	191					0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40362824	40362824	+	Silent	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:40362824C>T	ENST00000221347.6	-	32	15253	c.15246G>A	c.(15244-15246)gcG>gcA	p.A5082A		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5082						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACCCTTTTGCGCGCACAGGT	0.667000													6	609					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390466	45390466	+	Silent	SNP	A	A	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731000													5	93					0	0	1	0	0
TSPAN11	441631	broad.mit.edu	37	12	31116773	31116773	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:31116773G>T	ENST00000261177.9	+	3	156	c.97G>T	c.(97-99)Gcc>Tcc	p.A33S	TSPAN11_ENST00000544427.1_Missense_Mutation_p.A23S|TSPAN11_ENST00000546076.1_Missense_Mutation_p.A33S|TSPAN11_ENST00000535215.1_5'UTR	NM_001080509.2	NP_001073978.1	A1L157	TSN11_HUMAN	tetraspanin 11	33						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)	11	all_lung(12;3.11e-10)|Lung NSC(12;5.24e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CGGGGGAGCAGCCGTCCTGGC	0.662000													9	331					3.86212e-05	3.92613e-05	1	1	0
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs150688663	by1000genomes	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:53856702G>A	ENST00000458035.1	+	4	2891	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363000													5	169					0	0	1	0	0
DIAPH1	1729	broad.mit.edu	37	5	140963116	140963116	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:140963116G>A	ENST00000253811.6	-	5	609	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	DIAPH1_ENST00000520569.1_Missense_Mutation_p.R103W|DIAPH1_ENST00000398557.4_Missense_Mutation_p.R157W|DIAPH1_ENST00000518047.1_Missense_Mutation_p.R148W|DIAPH1_ENST00000389057.5_Missense_Mutation_p.R148W|DIAPH1_ENST00000398566.3_Missense_Mutation_p.R148W|DIAPH1_ENST00000389054.3_Missense_Mutation_p.R157W|DIAPH1_ENST00000398562.2_Missense_Mutation_p.R148W			O60610	DIAP1_HUMAN	diaphanous-related formin 1	157	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCATATCCCGCAAGCCTGAC	0.512000													6	732					0	0	1	0	0
C21orf2	755	broad.mit.edu	37	21	45753071	45753071	+	Missense_Mutation	SNP	C	C	T	rs140451304		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr21:45753071C>T	ENST00000339818.4	-	4	425	c.218G>A	c.(217-219)cGc>cAc	p.R73H	C21orf2_ENST00000325223.7_Missense_Mutation_p.R73H|AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000496321.1_5'UTR|C21orf2_ENST00000397956.3_Missense_Mutation_p.R73H	NM_004928.2	NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	73										endometrium(2)	2				Colorectal(79;0.0806)		GCTGGGGATGCGGTTCCTCCG	0.677000													4	96					0	0	1	0	0
KIF4A	24137	broad.mit.edu	37	X	69607059	69607059	+	Missense_Mutation	SNP	A	A	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:69607059A>G	ENST00000374403.3	+	20	2226	c.2144A>G	c.(2143-2145)aAg>aGg	p.K715R	KIF4A_ENST00000374388.3_Missense_Mutation_p.K715R	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	715	Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AAGCGTCTCAAGGATGCTCTC	0.423000													12	36					0	0	1	0	0
AWAT2	158835	broad.mit.edu	37	X	69261709	69261709	+	Silent	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:69261709C>T	ENST00000276101.3	-	7	956	c.951G>A	c.(949-951)caG>caA	p.Q317Q		NM_001002254.1	NP_001002254.1	Q6E213	AWAT2_HUMAN	acyl-CoA wax alcohol acyltransferase 2	317						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						TGGTCTTATGCTGGTCAAACA	0.488000													5	289					0	0	1	0	0
SLC1A4	6509	broad.mit.edu	37	2	65243676	65243676	+	Silent	SNP	T	T	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:65243676T>A	ENST00000234256.3	+	5	1146	c.903T>A	c.(901-903)tcT>tcA	p.S301S	SLC1A4_ENST00000493121.1_3'UTR|SLC1A4_ENST00000531327.1_Intron	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	301					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	TCTTCGCATCTATATTGGGCC	0.458000													18	475					0	0	1	0	0
IPO7	10527	broad.mit.edu	37	11	9459724	9459724	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:9459724C>T	ENST00000379719.3	+	22	2729	c.2587C>T	c.(2587-2589)Ccg>Tcg	p.P863S		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	863					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	p.P863S(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		ACAGATTTTGCCGGCTTTTAT	0.398000													7	952					0	0	1	0	0
TEAD2	8463	broad.mit.edu	37	19	49845730	49845730	+	Missense_Mutation	SNP	T	T	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:49845730T>A	ENST00000377214.4	-	10	1566	c.1204A>T	c.(1204-1206)Atg>Ttg	p.M402L	TEAD2_ENST00000593945.1_Missense_Mutation_p.M403L|TEAD2_ENST00000539846.1_Missense_Mutation_p.M271L|TEAD2_ENST00000598810.1_Missense_Mutation_p.M403L|TEAD2_ENST00000311227.2_Missense_Mutation_p.M399L|TEAD2_ENST00000601519.1_Missense_Mutation_p.M402L			Q15562	TEAD2_HUMAN	TEA domain family member 2	399	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		ACGCTGTTCATCATGTATCGC	0.587000													27	284					0	0	1	0	0
GGT3P	0	broad.mit.edu	37	22	18778612	18778612	+	RNA	SNP	C	C	T	rs1055042	by1000genomes	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr22:18778612C>T	ENST00000412448.1	-	0	793																											GCGGCCACGGCAGCCCTGGTG	0.637000													7	86					0	0	1	0	0
DPT	1805	broad.mit.edu	37	1	168698178	168698178	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:168698178G>A	ENST00000367817.3	-	1	324	c.235C>T	c.(235-237)Ccc>Tcc	p.P79S		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	79	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					TGTGGCGTGGGCATGCAGGCG	0.602000													6	871					0	0	1	0	0
TRIML2	205860	broad.mit.edu	37	4	189018255	189018255	+	Silent	SNP	G	G	A	rs144128750		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:189018255G>A	ENST00000512729.1	-	6	929	c.555C>T	c.(553-555)tgC>tgT	p.C185C	TRIML2_ENST00000326754.3_Silent_p.C210C	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	185	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTCTTATGTGGCATAAACTCA	0.493000													5	568					0	0	1	0	0
TYW1B	441250	broad.mit.edu	37	7	72277910	72277910	+	RNA	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:72277910C>T	ENST00000438125.1	-	0	336							Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										ACACGATGCACGCCAAGCATC	0.498000													14	245					0	0	1	0	0
A2ML1	144568	broad.mit.edu	37	12	8982332	8982332	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:8982332G>A	ENST00000299698.7	+	4	599	c.419G>A	c.(418-420)cGc>cAc	p.R140H	A2ML1-AS1_ENST00000537288.1_RNA	NM_144670.4	NP_653271.2	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	0						extracellular space	endopeptidase inhibitor activity			NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						GTGTATTTCCGCATTGTCACC	0.443000													5	522					0	0	1	0	0
MTMR6	9107	broad.mit.edu	37	13	25826043	25826043	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr13:25826043C>T	ENST00000381801.5	-	12	2187	c.1426G>A	c.(1426-1428)Gaa>Aaa	p.E476K	MTMR6_ENST00000540661.1_Missense_Mutation_p.E476K	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	476	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		CTGTGAGATTCGGAACTGTAG	0.328000													16	1038					0	0	1	0	0
STAG2	10735	broad.mit.edu	37	X	123176477	123176477	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:123176477G>A	ENST00000371160.1	+	7	734	c.444G>A	c.(442-444)atG>atA	p.M148I	STAG2_ENST00000371144.3_Missense_Mutation_p.M148I|STAG2_ENST00000371145.3_Missense_Mutation_p.M148I|STAG2_ENST00000354548.5_Missense_Mutation_p.M79I|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.M148I|STAG2_ENST00000371157.3_Missense_Mutation_p.M148I			Q8N3U4	STAG2_HUMAN	stromal antigen 2	148					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTCGAAAAATGACTGAAGAAT	0.299000													25	343					0	0	1	0	0
MAEL	84944	broad.mit.edu	37	1	166987189	166987189	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:166987189G>A	ENST00000367872.4	+	10	1278	c.1034G>A	c.(1033-1035)cGt>cAt	p.R345H	MAEL_ENST00000367870.2_Missense_Mutation_p.R314H|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	345					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GATGCAGGGCGTTACCAGGTA	0.443000													14	712					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39626997	39626997	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr8:39626997G>A	ENST00000265708.4	-	12	1229	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	ADAM2_ENST00000521880.1_Missense_Mutation_p.R376C|ADAM2_ENST00000379853.2_Missense_Mutation_p.R250C|ADAM2_ENST00000347580.4_Missense_Mutation_p.R357C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	376					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GGATCTAAGCGAGGCTGATTG	0.433000													11	215					0	0	1	0	0
DOCK9	23348	broad.mit.edu	37	13	99566593	99566593	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr13:99566593C>T	ENST00000376460.1	-	9	1029	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	DOCK9_ENST00000448493.2_Missense_Mutation_p.E329K|DOCK9_ENST00000339416.2_Missense_Mutation_p.E318K|DOCK9_ENST00000442173.1_Missense_Mutation_p.E317K	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	318					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTGGCAAGTTCCGGCAGGTAG	0.393000													6	56					0	0	1	0	0
ANKRD24	170961	broad.mit.edu	37	19	4216640	4216640	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:4216640G>A	ENST00000600132.1	+	18	1759	c.1483G>A	c.(1483-1485)Gag>Aag	p.E495K	ANKRD24_ENST00000262970.5_Missense_Mutation_p.E585K|ANKRD24_ENST00000318934.4_Missense_Mutation_p.E495K	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	495										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		TCTCCGGGCCGAGTTTGACCA	0.607000													7	42					0	0	1	0	0
TLE2	7089	broad.mit.edu	37	19	3002419	3002419	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:3002419C>T	ENST00000262953.6	-	18	2241	c.1979G>A	c.(1978-1980)cGc>cAc	p.R660H	TLE2_ENST00000426948.2_Missense_Mutation_p.R674H|TLE2_ENST00000590536.1_Missense_Mutation_p.R661H|TLE2_ENST00000591529.1_Missense_Mutation_p.R674H|TLE2_ENST00000455444.2_Missense_Mutation_p.R538H|TLE2_ENST00000443826.3_Missense_Mutation_p.R538H|TLE2_ENST00000447365.2_Missense_Mutation_p.R327H|TLE2_ENST00000586422.1_Intron	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	660				R -> G (in Ref. 1; AAA61193).	negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCGGCTTGCGGACGTGCAG	0.617000													5	103					0	0	1	0	0
KRTAP10-2	386679	broad.mit.edu	37	21	45971146	45971146	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr21:45971146C>G	ENST00000391621.1	-	1	242	c.196G>C	c.(196-198)Gcc>Ccc	p.A66P	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	66	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						GATTGGCAGGCGCTGGGCTCA	0.706000													5	400					0	0	1	0	0
CDC27	996	broad.mit.edu	37	17	45234708	45234708	+	Missense_Mutation	SNP	A	A	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr17:45234708A>G	ENST00000066544.3	-	6	611	c.518T>C	c.(517-519)tTa>tCa	p.L173S	CDC27_ENST00000528748.1_5'UTR|CDC27_ENST00000446365.2_Missense_Mutation_p.L112S|CDC27_ENST00000531206.1_Missense_Mutation_p.L173S|CDC27_ENST00000527547.1_Missense_Mutation_p.L173S	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	173					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.L173S(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AAAGTTCTGTAAAGATGTGAA	0.383000													5	326					0	0	1	0	0
CCSER2	54462	broad.mit.edu	37	10	86132185	86132185	+	Silent	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr10:86132185C>T	ENST00000224756.8	+	2	1562	c.1377C>T	c.(1375-1377)gcC>gcT	p.A459A	CCSER2_ENST00000372088.2_Silent_p.A459A|CCSER2_ENST00000359979.4_Silent_p.A459A	NM_018999.2	NP_061872.2			coiled-coil serine-rich protein 2																		ATGAAAAAGCCTTCAGTAAAA	0.328000													29	558					0	0	1	0	0
TSSC2	0	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													10	176					0	0	1	0	0
HIST1H2BO	8348	broad.mit.edu	37	6	27861401	27861401	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:27861401G>A	ENST00000303806.4	+	1	199	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	54					nucleosome assembly	nucleosome|nucleus	DNA binding										CCCGACACCGGCATCTCATCG	0.557000													6	786					0	0	1	0	0
KCNA6	3742	broad.mit.edu	37	12	4920759	4920759	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:4920759C>T	ENST00000433855.1	+	1	2418	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	KCNA6_ENST00000280684.3_Missense_Mutation_p.R518W	NM_002235.3	NP_002226.1	P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	518						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						TACACCACATCGGGCCTATGC	0.597000										HNSCC(72;0.22)			12	337					0	0	1	0	0
ACTBL2	345651	broad.mit.edu	37	5	56778497	56778497	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:56778497T>C	ENST00000423391.1	-	1	139	c.38A>G	c.(37-39)aAt>aGt	p.N13S	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	13						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		CCCTGACCCATTATCCACTAC	0.542000													18	148					0	0	1	0	0
AMFR	267	broad.mit.edu	37	16	56401435	56401435	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr16:56401435G>A	ENST00000290649.5	-	12	1730	c.1520C>T	c.(1519-1521)tCa>tTa	p.S507L		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	507					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GATGCTATCTGACCGCTGGAA	0.498000													25	1009					0	0	1	0	0
ZSCAN21	7589	broad.mit.edu	37	7	99662020	99662020	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:99662020C>T	ENST00000292450.4	+	4	1366	c.1202C>T	c.(1201-1203)gCg>gTg	p.A401V	ZSCAN21_ENST00000543588.1_Missense_Mutation_p.R367W|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.R367W|ZNF3_ENST00000413658.2_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	401					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGTCAGCATGCGGGCCTCAGC	0.522000													5	345					0	0	1	0	0
PTENP1	0	broad.mit.edu	37	9	33675379	33675379	+	RNA	SNP	C	C	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:33675379C>A	ENST00000532280.1	-	0	2118					NR_023917.1																						AAAAAGGTCCCTTTTCAGTTT	0.318000													4	142					3.59834e-05	3.6783e-05	1	1	0
HERC2P2	0	broad.mit.edu	37	15	23312250	23312250	+	RNA	SNP	A	A	G	rs139598302	by1000genomes	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr15:23312250A>G	ENST00000560464.1	-	0	3176																											CATGTCCCTCACCCTTTCGGT	0.458000													4	156					0	0	1	0	0
EFNB2	1948	broad.mit.edu	37	13	107148161	107148161	+	Missense_Mutation	SNP	A	A	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr13:107148161A>G	ENST00000245323.4	-	3	583	c.434T>C	c.(433-435)cTg>cCg	p.L145P		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	145					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CTGGTTATCCAGGCCCTCCAA	0.413000													6	891					0	0	1	0	0
CD1B	910	broad.mit.edu	37	1	158299919	158299919	+	Splice_Site	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:158299919G>A	ENST00000368168.3	-	3	437	c.328_splice	c.e3-1	p.Y110_splice		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	110					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TCTCAAAGGGGTCTATGTAGA	0.428000													34	1287					0	0	1	0	0
ZNF304	57343	broad.mit.edu	37	19	57868610	57868610	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:57868610G>A	ENST00000391705.3	+	4	1657	c.1373G>A	c.(1372-1374)tGc>tAc	p.C458Y	ZNF304_ENST00000598744.1_Missense_Mutation_p.C416Y|ZNF304_ENST00000282286.5_Missense_Mutation_p.C458Y|ZNF304_ENST00000443917.2_Missense_Mutation_p.C505Y	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GCCTTTGGCTGCAAAGACACA	0.478000													5	433					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522786	95522786	+	RNA	SNP	T	T	C			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:95522786T>C	ENST00000432432.2	-	0	241					NR_040113.1													p.K44K(1)									CGGCGTCGCCTTTGACAGCTG	0.687000													5	224					0	0	1	0	0
PIK3C2B	5287	broad.mit.edu	37	1	204412697	204412697	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:204412697G>A	ENST00000367187.3	-	20	3452	c.2896C>T	c.(2896-2898)Cag>Tag	p.Q966*	PIK3C2B_ENST00000424712.2_Nonsense_Mutation_p.Q938*	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	966					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			ATGCTGAACTGAGAGTCCTTG	0.567000													59	1528					0	0	1	0	0
ACTL9	284382	broad.mit.edu	37	19	8807880	8807880	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:8807880C>T	ENST00000324436.3	-	1	1292	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H		NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN	actin-like 9	391						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CTGGAAGGCGCGCAGGGAGGC	0.652000													36	218					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33134064	33134064	+	Silent	SNP	A	A	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:33134064A>T	ENST00000306065.4	-	9	905	c.747T>A	c.(745-747)ctT>ctA	p.L249L	ANKRD27_ENST00000587352.1_Silent_p.L249L	NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	249	VPS9.				early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					CTTTCTGCTGAAGATCTTGAA	0.473000													14	409					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856761	53856761	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:53856761T>C	ENST00000458035.1	+	4	2950	c.2833T>C	c.(2833-2835)Tgt>Cgt	p.C945R	ZNF845_ENST00000595091.1_Missense_Mutation_p.C945R	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	945					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C945R(1)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCTTACAAGTGTAATGAATG	0.348000													7	170					0	0	1	0	0
OR2A7	401427	broad.mit.edu	37	7	143956698	143956698	+	Silent	SNP	G	G	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:143956698G>T	ENST00000493325.1	-	1	117	c.24C>A	c.(22-24)atC>atA	p.I8I	RP4-798C17.6_ENST00000487102.1_RNA|RP4-798C17.6_ENST00000476560.1_RNA|ARHGEF35_ENST00000543357.1_Intron|RP4-798C17.6_ENST00000461843.1_RNA|RP4-798C17.6_ENST00000463561.1_RNA|RP4-798C17.6_ENST00000489488.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|RP4-798C17.6_ENST00000478806.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					GGAACTCTGTGATGGATGTTA	0.448000													59	440					1.93748e-29	2.06067e-29	1	1	0
KBTBD6	89890	broad.mit.edu	37	13	41705888	41705888	+	Missense_Mutation	SNP	G	G	A	rs61999308		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr13:41705888G>A	ENST00000379485.1	-	1	994	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	KBTBD6_ENST00000499385.2_Missense_Mutation_p.R188W	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	254							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CTGGGACCCCGCTCTTTGGGA	0.582000													101	277					0	0	1	0	0
PRLHR	2834	broad.mit.edu	37	10	120354499	120354499	+	Silent	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr10:120354499C>T	ENST00000239032.2	-	2	396	c.258G>A	c.(256-258)gcG>gcA	p.A86A	PRLHR_ENST00000369169.1_Silent_p.A86A	NM_004248.2	NP_004239.1	P49683	PRLHR_HUMAN	prolactin releasing hormone receptor	86					female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GGCGCACCCGCGCGATCACCA	0.657000													5	348					0	0	1	0	0
FAM155A	728215	broad.mit.edu	37	13	108518661	108518661	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr13:108518661T>C	ENST00000375915.2	-	1	422	c.284A>G	c.(283-285)cAg>cGg	p.Q95R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	95	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgccgccgctgctgctgctg	0.731000													5	123					0	0	1	0	0
ZMYND8	23613	broad.mit.edu	37	20	45853160	45853160	+	Silent	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr20:45853160C>T	ENST00000311275.7	-	19	3259	c.3006G>A	c.(3004-3006)cgG>cgA	p.R1002R	ZMYND8_ENST00000352431.2_Silent_p.R976R|ZMYND8_ENST00000471951.2_Silent_p.R1022R|ZMYND8_ENST00000262975.4_Silent_p.R956R|ZMYND8_ENST00000372023.3_Silent_p.R924R|ZMYND8_ENST00000540497.1_Silent_p.R950R|ZMYND8_ENST00000446994.2_Silent_p.R893R|ZMYND8_ENST00000536340.1_Silent_p.R1029R|ZMYND8_ENST00000360911.3_Silent_p.R951R|ZMYND8_ENST00000355972.4_Silent_p.R1002R|ZMYND8_ENST00000396281.4_Silent_p.R1002R|ZMYND8_ENST00000461685.1_Silent_p.R976R|ZMYND8_ENST00000458360.2_Silent_p.R870R			Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	1002							protein binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CGGCGATGAGCCGGTCCCGCT	0.627000													6	646					0	0	1	0	0
DNM1P47	0	broad.mit.edu	37	15	102292812	102292812	+	RNA	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr15:102292812G>A	ENST00000561463.1	+	0	858																											CTGCACTCGCGTGGGAACGAG	0.607000													8	128					0	0	1	0	0
NAV1	89796	broad.mit.edu	37	1	201777998	201777998	+	Splice_Site	SNP	A	A	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:201777998A>G	ENST00000367296.4	+	20	4626	c.4207_splice	c.e20+1	p.T1402_splice	NAV1_ENST00000367295.1_Splice_Site_p.T1008_splice|NAV1_ENST00000367302.1_Splice_Site_p.T1355_splice|NAV1_ENST00000295624.6_Splice_Site_p.T1399_splice|NAV1_ENST00000367300.3_Splice_Site_p.T1342_splice|NAV1_ENST00000367297.4_Splice_Site_p.T1394_splice|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1402					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TTGCAGACACAGGTACCTGTG	0.537000													6	524					0	0	1	0	0
LRRN3	54674	broad.mit.edu	37	7	110763403	110763403	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:110763403T>C	ENST00000451085.1	+	4	1621	c.575T>C	c.(574-576)aTt>aCt	p.I192T	LRRN3_ENST00000422987.3_Missense_Mutation_p.I192T|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.I192T|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000452895.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	192						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AATCTAGAGATTCTGATGATT	0.373000													60	302					0	0	1	0	0
RUNX2	860	broad.mit.edu	37	6	45390463	45390463	+	Silent	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736000													5	94					0	0	1	0	0
OBSCN	84033	broad.mit.edu	37	1	228495118	228495118	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:228495118C>T	ENST00000570156.2	+	57	15297	c.15223C>T	c.(15223-15225)Cgg>Tgg	p.R5075W	OBSCN_ENST00000422127.1_Missense_Mutation_p.R4118W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R1237W|OBSCN_ENST00000284548.11_Missense_Mutation_p.R4118W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R1752W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4118					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTACGAGATGCGGAGCCAGGG	0.662000													4	172					0	0	1	0	0
CDH9	1007	broad.mit.edu	37	5	26890658	26890658	+	Silent	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:26890658C>T	ENST00000231021.4	-	8	1441	c.1269G>A	c.(1267-1269)cgG>cgA	p.R423R		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	423	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TATCAGTATGCCGATCAACAG	0.388000													5	482					0	0	1	0	0
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328	byFrequency	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642000													7	539					0	0	1	0	0
IYD	389434	broad.mit.edu	37	6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGTTTCGCCGCAAATGGCAA	0.433000													8	567					0	0	1	0	0
AR	367	broad.mit.edu	37	X	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	rs71905623		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667000									Androgen Insensitivity Syndrome				5	117					0	0	1	0	0
CXorf23	256643	broad.mit.edu	37	X	19955570	19955570	+	Nonsense_Mutation	SNP	G	G	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:19955570G>T	ENST00000379682.4	-	8	1859	c.1826C>A	c.(1825-1827)tCa>tAa	p.S609*	CXorf23_ENST00000356980.3_Intron|CXorf23_ENST00000379687.3_Intron			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	609						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TCTAAAATTTGATTTTATAAA	0.289000													28	189					7.38237e-10	7.76203e-10	1	1	0
NLRC5	84166	broad.mit.edu	37	16	57075463	57075463	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr16:57075463C>G	ENST00000436936.1	+	18	3231	c.3006C>G	c.(3004-3006)tgC>tgG	p.C1002W	NLRC5_ENST00000262510.6_Missense_Mutation_p.C1002W|NLRC5_ENST00000539144.1_Missense_Mutation_p.C1002W|NLRC5_ENST00000308149.7_Missense_Mutation_p.C1002W			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1002					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GAGGAAGCTGCCACCTCGGTC	0.552000													27	176					0	0	1	0	0
FAM182B	0	broad.mit.edu	37	20	25848614	25848614	+	Translation_Start_Site	SNP	C	C	A	rs144456407	by1000genomes	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr20:25848614C>A	ENST00000376404.2	-	0	172				FAM182B_ENST00000478164.1_5'UTR																lung(1)	1						ccgggcaggcctgaggctggg	0.667000													7	32					5.18039e-06	5.3251e-06	1	1	0
XRCC5	7520	broad.mit.edu	37	2	216990661	216990661	+	Silent	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:216990661C>T	ENST00000392133.3	+	9	1166	c.705C>T	c.(703-705)tgC>tgT	p.C235C	XRCC5_ENST00000392132.2_Silent_p.C235C			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	235					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GAAAACTGTGCGTCTTCAAGA	0.368000								Non-homologous end-joining					5	472					0	0	1	0	0
SAMD7	344658	broad.mit.edu	37	3	169644499	169644499	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:169644499T>C	ENST00000428432.2	+	6	838	c.449T>C	c.(448-450)cTg>cCg	p.L150P	SAMD7_ENST00000335556.3_Missense_Mutation_p.L150P	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	150										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GCCGGTGACCTGCATTTTCAC	0.592000													44	246					0	0	1	0	0
ACE2	59272	broad.mit.edu	37	X	15609901	15609901	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:15609901C>T	ENST00000427411.1	-	5	734	c.518G>A	c.(517-519)gGc>gAc	p.G173D	ACE2_ENST00000252519.3_Missense_Mutation_p.G173D	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	173					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CAGCTGCTTGCCGACCTCAGA	0.438000													7	1268					0	0	1	0	0
SH3TC1	54436	broad.mit.edu	37	4	8230216	8230216	+	Missense_Mutation	SNP	T	T	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:8230216T>A	ENST00000539824.1	+	12	2941	c.2567T>A	c.(2566-2568)cTg>cAg	p.L856Q	SH3TC1_ENST00000245105.3_Missense_Mutation_p.L932Q			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	932							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GCCGTGCGGCTGTTCTCGAGG	0.706000													22	132					0	0	1	0	0
KRT74	121391	broad.mit.edu	37	12	52964517	52964517	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:52964517C>T	ENST00000549343.1	-	5	982	c.944G>A	c.(943-945)cGc>cAc	p.R315H	KRT74_ENST00000305620.2_Missense_Mutation_p.R315H			Q7RTS7	K2C74_HUMAN	keratin 74	315	Coil 2.|Rod.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		ATAATGCATGCGGACCTCAGC	0.592000													5	217					0	0	1	0	0
ZFYVE26	23503	broad.mit.edu	37	14	68249561	68249561	+	Silent	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr14:68249561G>A	ENST00000347230.4	-	21	4446	c.4308C>T	c.(4306-4308)taC>taT	p.Y1436Y	ZFYVE26_ENST00000555452.1_Silent_p.Y1436Y	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1436					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CATCTCGCCCGTACACTTCAG	0.527000													6	639					0	0	1	0	0
RP11-343N15.1	0	broad.mit.edu	37	1	121116689	121116689	+	RNA	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:121116689C>T	ENST00000437515.1	-	0	329																											CTTTTCAGCACCAAGCCAAGT	0.403000													5	330					0	0	1	0	0
CNGA3	1261	broad.mit.edu	37	2	99013711	99013711	+	Missense_Mutation	SNP	A	A	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:99013711A>G	ENST00000393504.1	+	8	2495	c.2078A>G	c.(2077-2079)cAa>cGa	p.Q693R	CNGA3_ENST00000409937.1_Missense_Mutation_p.Q697R|CNGA3_ENST00000272602.2_Missense_Mutation_p.Q693R|CNGA3_ENST00000436404.2_Missense_Mutation_p.Q675R	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	693					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GAGGACAAACAACAGTGAAAA	0.562000													7	143					0	0	1	0	0
NPR1	4881	broad.mit.edu	37	1	153661467	153661467	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:153661467G>A	ENST00000368680.3	+	16	2928	c.2456G>A	c.(2455-2457)cGc>cAc	p.R819H		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	819					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CTGCTGTCCCGCATGGAGCAG	0.627000													6	872					0	0	1	0	0
GATA2	2624	broad.mit.edu	37	3	128200783	128200783	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:128200783G>A	ENST00000341105.2	-	5	1353	c.1022C>T	c.(1021-1023)gCc>gTc	p.A341V	GATA2_ENST00000430265.2_Intron|GATA2_ENST00000487848.1_Missense_Mutation_p.A341V|GATA2_ENST00000489987.1_5'UTR	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	341					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.A341_G346del(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		TCTTCTGGCGGCCGACTGGGA	0.667000			Mis		AML(CML blast transformation)								4	161					0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112024240	112024240	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:112024240G>A	ENST00000371959.3	-	9	2346	c.2347C>T	c.(2347-2349)Cgg>Tgg	p.R783W	AMOT_ENST00000371962.1_Missense_Mutation_p.R551W|AMOT_ENST00000371958.1_Missense_Mutation_p.R551W|AMOT_ENST00000524145.1_Missense_Mutation_p.R783W|AMOT_ENST00000304758.1_Missense_Mutation_p.R374W	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	783					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TTCGCTGGCCGCATGCACGAC	0.552000													8	1066					0	0	1	0	0
SAMD12	401474	broad.mit.edu	37	8	119391680	119391680	+	Silent	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr8:119391680G>A	ENST00000314727.4	-	4	718	c.582C>T	c.(580-582)atC>atT	p.I194I	SAMD12_ENST00000527515.1_Intron|AC023590.1_ENST00000430457.1_Intron|SAMD12_ENST00000409003.4_Intron	NM_207506.2	NP_997389.2	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	194										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TATTTTCTATGATGGAAATTC	0.368000													5	234					0	0	1	0	0
CBWD1	55871	broad.mit.edu	37	9	164038	164038	+	Splice_Site	SNP	C	C	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:164038C>G	ENST00000377447.3	-	5	486		c.e5-1		CBWD1_ENST00000431099.2_Splice_Site|CBWD1_ENST00000356521.4_Splice_Site|CBWD1_ENST00000377400.4_Splice_Site|CBWD1_ENST00000382447.4_Splice_Site|CBWD1_ENST00000314367.10_Splice_Site			Q9BRT8	CBWD1_HUMAN	COBW domain containing 1								ATP binding|protein binding	p.?(2)		kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCACTGCACCTGAAAATATA	0.284000													8	802					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23528647	23528647	+	Missense_Mutation	SNP	T	T	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr14:23528647T>G	ENST00000262710.1	-	19	4063	c.3736A>C	c.(3736-3738)Aag>Cag	p.K1246Q	ACIN1_ENST00000457657.1_Missense_Mutation_p.K1206Q|ACIN1_ENST00000605057.1_Missense_Mutation_p.K1188Q|ACIN1_ENST00000555053.1_Missense_Mutation_p.K1233Q|ACIN1_ENST00000557515.1_Missense_Mutation_p.K487Q|ACIN1_ENST00000357481.2_Missense_Mutation_p.K488Q|ACIN1_ENST00000338631.6_Missense_Mutation_p.K519Q|ACIN1_ENST00000397341.3_Missense_Mutation_p.K488Q	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1246	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		tcccgctccttGGCCCGTTCG	0.582000													54	178					0	0	1	0	0
TGOLN2	10618	broad.mit.edu	37	2	85554633	85554633	+	Silent	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:85554633C>T	ENST00000377386.3	-	2	684	c.222G>A	c.(220-222)gcG>gcA	p.A74A	TGOLN2_ENST00000409015.1_Silent_p.A74A|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000409232.3_Silent_p.A74A|TGOLN2_ENST00000444342.2_Silent_p.A74A|TGOLN2_ENST00000398263.2_Silent_p.A74A			O43493	TGON2_HUMAN	trans-golgi network protein 2	74	14 X 14 AA tandem repeats.			A -> P (in Ref. 4; BAD96783).		integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										CTGGGGTCTGCGCCTCCGCAC	0.607000													9	1299					0	0	1	0	0
MUSK	4593	broad.mit.edu	37	9	113547892	113547892	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:113547892C>T	ENST00000416899.2	+	11	1774	c.1648C>T	c.(1648-1650)Ccg>Tcg	p.P550S	MUSK_ENST00000189978.5_Missense_Mutation_p.P558S|MUSK_ENST00000374438.1_Missense_Mutation_p.P74S|MUSK_ENST00000374448.4_Missense_Mutation_p.P558S			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	558					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						CCAGAGGATGCCGCTCCTTCT	0.498000													6	852					0	0	1	0	0
SORT1	6272	broad.mit.edu	37	1	109865648	109865648	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:109865648G>A	ENST00000256637.6	-	15	1988	c.1930C>T	c.(1930-1932)Cgg>Tgg	p.R644W	SORT1_ENST00000538502.1_Missense_Mutation_p.R507W	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	644	Interactions with LRPAP1 and NGFB.				endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		TTGCGTAGCCGCAGAAACTGT	0.488000													4	265					0	0	1	0	0
FAM171B	165215	broad.mit.edu	37	2	187626909	187626909	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:187626909C>T	ENST00000304698.5	+	8	2043	c.1840C>T	c.(1840-1842)Cca>Tca	p.P614S		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	614						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						ACAGAGCCTGCCATCCCAGGC	0.483000													33	287					0	0	1	0	0
ZNF184	7738	broad.mit.edu	37	6	27419236	27419236	+	Missense_Mutation	SNP	T	T	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:27419236T>A	ENST00000211936.6	-	6	2386	c.2102A>T	c.(2101-2103)aAt>aTt	p.N701I	ZNF184_ENST00000377419.1_Missense_Mutation_p.N701I	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	701					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TCTGCATTCATTACAGTTATA	0.403000													5	600					0	0	1	0	0
FLG2	388698	broad.mit.edu	37	1	152326017	152326017	+	Missense_Mutation	SNP	C	C	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:152326017C>A	ENST00000388718.5	-	3	4317	c.4245G>T	c.(4243-4245)agG>agT	p.R1415S	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1415							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCAGTTGTCCTGGACCCTC	0.527000													9	2242					8.12818e-05	8.21751e-05	1	1	0
LINC00969	0	broad.mit.edu	37	3	195400848	195400848	+	RNA	SNP	G	G	A	rs7635190	by1000genomes	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:195400848G>A	ENST00000445430.1	+	0	1444																											TCGCAGAGTCGTGCAGGCCTG	0.552000													4	103					0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1201792	1201792	+	Silent	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:1201792C>T	ENST00000304460.10	+	1	83	c.27C>T	c.(25-27)ccC>ccT	p.P9P		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	9					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGCCCAACCCCGGCCTAGACG	0.697000													8	74					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1921002	1921002	+	Silent	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:1921002C>T	ENST00000399161.2	-	11	2340	c.1593G>A	c.(1591-1593)ccG>ccA	p.P531P	MYT1L_ENST00000428368.2_Silent_p.P529P	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	531					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P531P(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TATCTTTGTGCGGGCATCCGG	0.562000													7	704					0	0	1	0	0
PRKACG	5568	broad.mit.edu	37	9	71628843	71628843	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:71628843C>T	ENST00000377276.2	-	1	196	c.166G>A	c.(166-168)Ggg>Agg	p.G56R		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	56	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						ATCACCCGCCCGAAGGAGCCC	0.592000													7	267					0	0	1	0	0
LZTS2	84445	broad.mit.edu	37	10	102763860	102763860	+	Silent	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr10:102763860C>T	ENST00000370220.1	+	2	4068	c.1005C>T	c.(1003-1005)gaC>gaT	p.D335D	LZTS2_ENST00000370223.3_Silent_p.D335D			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	335					cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		AGCTCCGAGACCGGGAGGCAG	0.632000													9	244					0	0	1	0	0
CALCA	796	broad.mit.edu	37	11	14991575	14991575	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:14991575C>T	ENST00000361010.3	-	3	207	c.133G>A	c.(133-135)Gac>Aac	p.D45N	CALCA_ENST00000331587.4_Missense_Mutation_p.D45N|CALCA_ENST00000396372.2_Missense_Mutation_p.D45N|CALCA_ENST00000359642.3_Missense_Mutation_p.D45N|CALCB_ENST00000523376.1_Intron|CALCA_ENST00000486207.1_Missense_Mutation_p.D45N	NM_001033953.2	NP_001029125.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	45					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	CGCGCTTCGTCCTCACTGAGC	0.647000											OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	113					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145359109	145359109	+	Missense_Mutation	SNP	T	T	A	rs3967942		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:145359109T>A	ENST00000342960.5	+	72	9084	c.9049T>A	c.(9049-9051)Tgt>Agt	p.C3017S	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3017								p.C3017S(1)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TCTTGAACTGTGTGACTCATG	0.483000													6	515					0	0	1	0	0
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537000													6	223					0	0	1	0	0
GPR34	2857	broad.mit.edu	37	X	41555137	41555137	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:41555137G>A	ENST00000378142.4	+	3	535	c.251G>A	c.(250-252)cGt>cAt	p.R84H	CASK_ENST00000318588.9_Intron|CASK_ENST00000442742.2_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.R84H|CASK_ENST00000378154.1_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378163.1_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000421587.2_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	84						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R84H(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						GGTATTCACCGTAAAAGAAAT	0.383000													5	618					0	0	1	0	0
ACKR4	51554	broad.mit.edu	37	3	132319910	132319910	+	Silent	SNP	A	A	G	rs149577867	by1000genomes	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:132319910A>G	ENST00000249887.2	+	2	765	c.669A>G	c.(667-669)acA>acG	p.T223T	ACAD11_ENST00000264990.6_Intron|ACAD11_ENST00000545291.1_Intron|ACAD11_ENST00000355458.3_Intron	NM_016557.2|NM_178445.2	NP_057641.1|NP_848540.1			atypical chemokine receptor 4									p.T223T(1)									ACTTTATCACAGCAAGGACAC	0.388000													7	453					0	0	1	0	0
HERC2P3	0	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097																		p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463000													4	140					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													4	90					0	0	1	0	0
ANKRD20A8P	0	broad.mit.edu	37	2	95522772	95522772	+	RNA	SNP	T	T	C			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:95522772T>C	ENST00000432432.2	-	0	255					NR_040113.1													p.E49G(1)									GCGCTCCACCTCCGCGGCGTC	0.682000													5	195					0	0	1	0	0
ATE1	11101	broad.mit.edu	37	10	123503198	123503198	+	Silent	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr10:123503198G>A	ENST00000369043.3	-	12	1640	c.1554C>T	c.(1552-1554)aaC>aaT	p.N518N	ATE1_ENST00000535655.1_Silent_p.N219N|ATE1_ENST00000369040.3_Silent_p.N422N|ATE1_ENST00000540606.1_Silent_p.N511N|ATE1_ENST00000543447.1_Silent_p.N403N|ATE1_ENST00000224652.6_Silent_p.N518N	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	518					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GAACAGGTCAGTTTCTGAACA	0.522000													11	182					0	0	1	0	0
VLDLR	7436	broad.mit.edu	37	9	2641436	2641436	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:2641436C>T	ENST00000382100.2	+	4	741	c.385C>T	c.(385-387)Cca>Tca	p.P129S	VLDLR_ENST00000382099.2_Missense_Mutation_p.P129S	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	129	LDL-receptor class A 3.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TCAGTGTATCCCAGTGTCCTG	0.433000													6	337					0	0	1	0	0
POM121L9P	0	broad.mit.edu	37	22	24659675	24659675	+	RNA	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr22:24659675G>A	ENST00000414583.2	+	0	3200					NR_003714.1																						ATGCCTCGGCGCTCGATCTCC	0.622000													7	87					0	0	1	0	0
RBPJL	11317	broad.mit.edu	37	20	43943060	43943060	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr20:43943060G>A	ENST00000343694.3	+	9	947	c.875G>A	c.(874-876)cGt>cAt	p.R292H	RBPJL_ENST00000372743.1_Missense_Mutation_p.R292H|RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372741.3_Missense_Mutation_p.R292H	NM_014276.2	NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	292					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CAGATCATCCGTAAAGTAGCA	0.572000													5	508					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128685	45128685	+	RNA	SNP	T	T	C	rs145089594	by1000genomes	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr17:45128685T>C	ENST00000575173.1	-	0	418																											TTCCAGGATATGGCTATACTG	0.303000													7	780					0	0	1	0	0
ATXN7	6314	broad.mit.edu	37	3	63965627	63965627	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:63965627C>T	ENST00000398590.3	+	6	1089	c.536C>T	c.(535-537)gCc>gTc	p.A179V	ATXN7_ENST00000488239.1_3'UTR|ATXN7_ENST00000484332.1_Missense_Mutation_p.A34V|ATXN7_ENST00000295900.6_Missense_Mutation_p.A179V|ATXN7_ENST00000487717.1_Missense_Mutation_p.A179V|ATXN7_ENST00000538065.1_Missense_Mutation_p.A179V	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	179	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CCGCCTTTGGCCGTTCCTCCC	0.443000													5	366					0	0	1	0	0
NBPF20	100288142	broad.mit.edu	37	1	148346684	148346684	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:148346684G>A	ENST00000369202.1	-	2	270	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	NBPF20_ENST00000414710.2_Missense_Mutation_p.R25C					neuroblastoma breakpoint family, member 20									p.R25C(1)		breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						AACTGGGGGCGCAATTTCTCG	0.507000													10	1729					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192261178	192261178	+	Silent	SNP	A	A	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:192261178A>G	ENST00000392318.3	+	21	2497	c.2250A>G	c.(2248-2250)acA>acG	p.T750T	MYO1B_ENST00000339514.4_Silent_p.T750T|MYO1B_ENST00000392316.1_Silent_p.T750T|MYO1B_ENST00000439065.2_Silent_p.T24T|MYO1B_ENST00000304164.4_Silent_p.T750T	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	750	IQ 3.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			ACCAGCAGACAAAGAGTTCCG	0.368000													20	548					0	0	1	0	0
KRTAP5-3	387266	broad.mit.edu	37	11	1629152	1629152	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:1629152C>G	ENST00000399685.1	-	1	541	c.464G>C	c.(463-465)tGc>tCc	p.C155S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	155	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGACTGGGAGCAGCTGGGCTT	0.627000													7	1043					0	0	1	0	0
NCEH1	57552	broad.mit.edu	37	3	172353825	172353825	+	Missense_Mutation	SNP	G	G	A	rs149894663		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:172353825G>A	ENST00000475381.1	-	4	723	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	NCEH1_ENST00000543711.1_Missense_Mutation_p.R31W|NCEH1_ENST00000538775.1_Missense_Mutation_p.R204W|NCEH1_ENST00000273512.3_Missense_Mutation_p.R196W			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1	164					lipid catabolic process	endoplasmic reticulum|integral to membrane|microsome	carboxylesterase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						TTTGTGGCCCGTACAACATCA	0.403000													5	516					0	0	1	0	0
PCDH19	57526	broad.mit.edu	37	X	99662436	99662436	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:99662436C>T	ENST00000373034.4	-	1	2835	c.1160G>A	c.(1159-1161)cGt>cAt	p.R387H	PCDH19_ENST00000255531.7_Missense_Mutation_p.R387H|PCDH19_ENST00000420881.2_Missense_Mutation_p.R387H	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	387	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCCCAGCAAACGGCACTGCAC	0.607000													41	348					0	0	1	0	0
CLCA1	1179	broad.mit.edu	37	1	86964283	86964283	+	Silent	SNP	T	T	C			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:86964283T>C	ENST00000234701.3	+	14	2493	c.2142T>C	c.(2140-2142)ccT>ccC	p.P714P	CLCA1_ENST00000394711.1_Silent_p.P714P			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	714					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CACCAAGACCTGAAATTAATA	0.393000													5	379					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89395322	89395322	+	RNA	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:89395322C>T	ENST00000532352.1	+	0	720							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCAGAATACGCTTATAGGC	0.343000													4	142					0	0	1	0	0
COPA	1314	broad.mit.edu	37	1	160261696	160261696	+	Silent	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:160261696G>A	ENST00000241704.7	-	30	3400	c.3171C>T	c.(3169-3171)tgC>tgT	p.C1057C	COPA_ENST00000368069.3_Silent_p.C1066C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1057					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGTACTCACGGCAAATGGTGA	0.522000											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	1467					0	0	1	0	0
CCDC28A	25901	broad.mit.edu	37	6	139101019	139101019	+	Silent	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:139101019G>A	ENST00000332797.6	+	3	644	c.489G>A	c.(487-489)ccG>ccA	p.P163P		NM_015439.2	NP_056254.1	Q8IWP9	CC28A_HUMAN	coiled-coil domain containing 28A	163										autonomic_ganglia(1)|large_intestine(3)|lung(8)|ovary(1)	13				OV - Ovarian serous cystadenocarcinoma(155;0.000201)|GBM - Glioblastoma multiforme(68;0.000306)		AGTCAACTCCGATCCAGCACT	0.453000													5	445					0	0	1	0	0
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:53856730G>A	ENST00000458035.1	+	4	2919	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000595091.1_Silent_p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368000													7	182					0	0	1	0	0
OGFR	11054	broad.mit.edu	37	20	61444217	61444217	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr20:61444217G>A	ENST00000370461.1	+	5	3371	c.1094G>A	c.(1093-1095)tGt>tAt	p.C365Y	OGFR_ENST00000370468.3_Missense_Mutation_p.C417Y|OGFR_ENST00000290291.6_Missense_Mutation_p.C417Y			Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	417					regulation of cell growth	cytoplasm|membrane|nucleus	opioid receptor activity			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					TTGGAGGGGTGTGCCCTCAGC	0.682000													11	190					0	0	1	0	0
MPP4	58538	broad.mit.edu	37	2	202552087	202552087	+	Missense_Mutation	SNP	T	T	C			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:202552087T>C	ENST00000409474.3	-	5	494	c.287A>G	c.(286-288)gAg>gGg	p.E96G	MPP4_ENST00000396886.3_Missense_Mutation_p.E96G|MPP4_ENST00000315506.7_Missense_Mutation_p.E96G|MPP4_ENST00000428900.2_Missense_Mutation_p.E96G|MPP4_ENST00000359962.5_Missense_Mutation_p.E96G|MPP4_ENST00000409143.1_Intron|MPP4_ENST00000447335.2_Missense_Mutation_p.E96G	NM_033066.2	NP_149055.1	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	96	L27 2.					cytoplasm	protein binding			kidney(1)|lung(11)	12						ACGTAATAACTCCACTACCTG	0.393000													3	52					0	0	1	0	0
SLC12A5	57468	broad.mit.edu	37	20	44675062	44675062	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr20:44675062C>T	ENST00000454036.1	+	14	1919	c.1843C>T	c.(1843-1845)Cga>Tga	p.R615*	SLC12A5_ENST00000243964.3_Nonsense_Mutation_p.R592*|SLC12A5_ENST00000539566.1_3'UTR	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	615					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCCACGCTTTCGATATTACCA	0.552000													13	357					0	0	1	0	0
HTR2C	3358	broad.mit.edu	37	X	114141325	114141325	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:114141325C>T	ENST00000276198.1	+	6	1452	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	HTR2C_ENST00000371950.3_Missense_Mutation_p.A210V|HTR2C_ENST00000371951.1_Missense_Mutation_p.R242C	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	242					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CTACGTTCTGCGCCGACAAGC	0.502000													9	1655					0	0	1	0	0
CECR1	51816	broad.mit.edu	37	22	17669277	17669277	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr22:17669277C>T	ENST00000399839.1	-	7	1303	c.1033G>A	c.(1033-1035)Gcc>Acc	p.A345T	CECR1_ENST00000330232.4_Missense_Mutation_p.A104T|CECR1_ENST00000399837.2_Missense_Mutation_p.A345T|CECR1_ENST00000449907.2_Missense_Mutation_p.A303T|CECR1_ENST00000262607.3_Missense_Mutation_p.A345T			Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	345					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CCATCCTTGGCGGGGATCATC	0.607000													8	322					0	0	1	0	0
CACNA1C	775	broad.mit.edu	37	12	2566843	2566843	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:2566843G>A	ENST00000399655.1	+	5	993	c.728G>A	c.(727-729)cGc>cAc	p.R243H	CACNA1C_ENST00000480911.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R243H|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R243H|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000347598.4_Missense_Mutation_p.R243H|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000344100.3_Missense_Mutation_p.R243H|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R243H|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R243H|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R243H|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R243H	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	243					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGCGTGCTGCGCCCCCTGCGG	0.562000													65	991					0	0	1	0	0
PEX14	5195	broad.mit.edu	37	1	10689967	10689967	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:10689967G>A	ENST00000356607.4	+	9	1137	c.1057G>A	c.(1057-1059)Ggg>Agg	p.G353R	PEX14_ENST00000538836.1_Missense_Mutation_p.G289R	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	353					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		CCGCCGGGGCGGGGATGGGCA	0.677000													4	122					0	0	1	0	0
PMFBP1	83449	broad.mit.edu	37	16	72162994	72162994	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr16:72162994G>A	ENST00000537465.1	-	13	2094	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	PMFBP1_ENST00000237353.10_Missense_Mutation_p.R641W|PMFBP1_ENST00000355636.6_Missense_Mutation_p.R496W			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	646										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				AATTCCTGCCGCAAAGCTTCA	0.527000													6	929					0	0	1	0	0
TMEM104	54868	broad.mit.edu	37	17	72832228	72832228	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr17:72832228C>G	ENST00000335464.5	+	10	1055	c.893C>G	c.(892-894)tCc>tGc	p.S298C	TMEM104_ENST00000582330.1_Missense_Mutation_p.S298C|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	298						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					ACCCCCGTCTCCTCCAAGCGC	0.622000													32	286					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43171608	43171608	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:43171608C>T	ENST00000252050.4	+	20	4126	c.4042C>T	c.(4042-4044)Cgc>Tgc	p.R1348C	CUL9_ENST00000354495.3_Missense_Mutation_p.R1238C|CUL9_ENST00000372647.2_Missense_Mutation_p.R1348C	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1348					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAGGGTTTTGCGCCACGAGCA	0.582000													8	1075					0	0	1	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000225576.3_Intron					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													5	368					0	0	1	0	0
ALX4	60529	broad.mit.edu	37	11	44286499	44286499	+	Missense_Mutation	SNP	C	C	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:44286499C>G	ENST00000329255.3	-	4	1244	c.1141G>C	c.(1141-1143)Gag>Cag	p.E381Q		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	381					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CCGTTGAGCTCGTAGCCATTG	0.652000													14	355					0	0	1	0	0
ZNF645	158506	broad.mit.edu	37	X	22292216	22292216	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:22292216G>A	ENST00000323684.1	+	1	1152	c.1108G>A	c.(1108-1110)Gaa>Aaa	p.E370K		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	370						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TCAGTTCACCGAAAATCAAGA	0.448000													31	404					0	0	1	0	0
MST1R	4486	broad.mit.edu	37	3	49932677	49932677	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:49932677G>A	ENST00000296474.3	-	14	3221	c.3194C>T	c.(3193-3195)gCg>gTg	p.A1065V	MST1R_ENST00000344206.4_Missense_Mutation_p.A1016V	NM_002447.2	NP_002438.2	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1065					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		AGCCAAGAGCGCAGAGTCCAG	0.577000													6	798					0	0	1	0	0
FAM104B	90736	broad.mit.edu	37	X	55172537	55172537	+	Nonsense_Mutation	SNP	G	G	A	rs1047054	by1000genomes	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:55172537G>A	ENST00000425133.2	-	3	369	c.331C>T	c.(331-333)Cga>Tga	p.R111*	FAM104B_ENST00000472571.2_3'UTR|FAM104B_ENST00000477847.2_Nonsense_Mutation_p.R107*|FAM104B_ENST00000358460.4_Intron|FAM104B_ENST00000332132.4_Intron|FAM104B_ENST00000489298.1_Nonsense_Mutation_p.R109*	NM_001166700.1|NM_001166701.1|NM_001166704.1	NP_001160172.1|NP_001160173.1|NP_001160176.1	Q5XKR9	F104B_HUMAN	family with sequence similarity 104, member B	0								p.R111*(5)		endometrium(3)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	8						GCTTGCCCTCGCTGCTGCAGG	0.438000													4	158					0	0	1	0	0
PRRG4	79056	broad.mit.edu	37	11	32852139	32852139	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:32852139G>A	ENST00000257836.3	+	2	317	c.64G>A	c.(64-66)Gca>Aca	p.A22T		NM_024081.5	NP_076986.1	Q9BZD6	TMG4_HUMAN	proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane)	22						extracellular region|Golgi apparatus|integral to membrane	calcium ion binding			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					TCCTCATTGCGCAAGAGGTCC	0.478000													5	613					0	0	1	0	0
RFTN1	23180	broad.mit.edu	37	3	16475415	16475415	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:16475415C>T	ENST00000334133.4	-	3	547	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	RFTN1_ENST00000432519.1_Missense_Mutation_p.R56Q	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	92						plasma membrane		p.R92L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						CGTCTTCTCCCGCTCATGGGT	0.632000													10	668					0	0	1	0	0
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072	by1000genomes	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr17:45128671T>G	ENST00000575173.1	-	0	418																											GCTCACAAAATAAGTTCCAGG	0.323000													7	721					0	0	1	0	0
WBSCR28	135886	broad.mit.edu	37	7	73279489	73279489	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:73279489G>A	ENST00000320531.2	+	2	275	c.239G>A	c.(238-240)gGg>gAg	p.G80E		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	80						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				CTCTGGGCTGGGCTGGCTCTG	0.697000													58	452					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	89979973	89979973	+	Missense_Mutation	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:89979973C>T	ENST00000405460.2	+	28	6331	c.6235C>T	c.(6235-6237)Ctc>Ttc	p.L2079F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2079					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TATCGAACTACTCAACTCTAC	0.363000													20	143					0	0	1	0	0
FRAS1	80144	broad.mit.edu	37	4	79396679	79396679	+	Silent	SNP	C	C	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:79396679C>T	ENST00000264895.6	+	54	8210	c.7770C>T	c.(7768-7770)cgC>cgT	p.R2590R		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2589	Calx-beta 1.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCCTGTGTCGCACCGAGCAAG	0.582000													5	281					0	0	1	0	0
OR8K1	390157	broad.mit.edu	37	11	56113884	56113884	+	Missense_Mutation	SNP	A	A	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr11:56113884A>G	ENST00000279783.2	+	1	464	c.370A>G	c.(370-372)Atg>Gtg	p.M124V		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					TCTATCAGCAATGGCCTATGA	0.403000										HNSCC(65;0.19)			245	794					0	0	1	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12887606	12887606	+	Missense_Mutation	SNP	C	C	G	rs58074988		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:12887606C>G	ENST00000535591.1	-	3	446	c.251G>C	c.(250-252)tGc>tCc	p.C84S		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	84								p.C84S(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATTGAGGAAGCACCCATGGGC	0.483000													7	1163					0	0	1	0	0
RP11-798G7.5	0	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs149697015	by1000genomes	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr17:43587569G>C	ENST00000253803.2	+	0	267				LRRC37A4P_ENST00000579913.1_RNA																							aactccgtctgaaaagaaaag	0.443000													5	247					0	0	1	0	0
KRTAP4-9	100132386	broad.mit.edu	37	17	39262103	39262103	+	Missense_Mutation	SNP	A	A	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr17:39262103A>T	ENST00000391415.1	+	1	520	c.463A>T	c.(463-465)Agc>Tgc	p.S155C		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	155	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ccccagctgcagcatctccag	0.672000													5	66					0	0	1	0	0
TRPM3	80036	broad.mit.edu	37	9	73461435	73461435	+	Missense_Mutation	SNP	G	G	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:73461435G>T	ENST00000377110.2	-	4	778	c.535C>A	c.(535-537)Ctt>Att	p.L179I	TRPM3_ENST00000396285.1_Missense_Mutation_p.L26I|TRPM3_ENST00000377106.1_Missense_Mutation_p.L26I|TRPM3_ENST00000358082.3_Missense_Mutation_p.L26I|TRPM3_ENST00000423814.3_Missense_Mutation_p.L181I|TRPM3_ENST00000360823.2_Missense_Mutation_p.L26I|TRPM3_ENST00000377111.2_Missense_Mutation_p.L179I|TRPM3_ENST00000361823.5_Missense_Mutation_p.L26I|TRPM3_ENST00000377097.3_Missense_Mutation_p.L26I|TRPM3_ENST00000396292.4_Missense_Mutation_p.L26I|TRPM3_ENST00000377105.1_Missense_Mutation_p.L26I|TRPM3_ENST00000408909.2_Missense_Mutation_p.L26I|TRPM3_ENST00000396283.1_Missense_Mutation_p.L26I|TRPM3_ENST00000377101.1_Missense_Mutation_p.L26I|TRPM3_ENST00000357533.2_Missense_Mutation_p.L181I|TRPM3_ENST00000396280.5_Missense_Mutation_p.L26I	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	179						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGCTTGGGAAGCTCCAACTGC	0.463000													5	386					1	1	1	1	0
TAS2R1	50834	broad.mit.edu	37	5	9629850	9629850	+	Missense_Mutation	SNP	G	G	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:9629850G>A	ENST00000382492.2	-	1	613	c.295C>T	c.(295-297)Ctc>Ttc	p.L99F	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	99					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AAAACGCCGAGCCATGTGGCA	0.433000													6	174					0	0	1	0	0
CPE	1363	broad.mit.edu	37	4	166418761	166418761	+	Nonstop_Mutation	SNP	A	A	T	rs34858186		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:166418761A>T	ENST00000402744.4	+	9	1710	c.1430A>T	c.(1429-1431)tAa>tTa	p.*477L		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	0					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTAAATTTTTAAAAAGGCTTC	0.299000													37	114					0	0	1	0	0
PADI6	353238	broad.mit.edu	37	1	17721702	17721703	+	RNA	INS	-	-	C			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:17721702_17721703insC	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	Cttgtttttttttttttttgtt	0.485													10	64	---	---	---	---					
CCDC28B	79140	broad.mit.edu	37	1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:32670247_32670248delTG	ENST00000421922.2	+	5	674_675	c.574_575delTG	c.(574-576)tfs	p.C192fs	CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.500													9	839	---	---	---	---					
ANKRD35	148741	broad.mit.edu	37	1	145562117	145562117	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:145562117delA	ENST00000355594.4	+	10	1892	c.1805delA	c.(1804-1806)gafs	p.E602fs		NM_144698.3	NP_653299.3	Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	602										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTGGAGGGGAAAAGGCCCTA	0.577													7	548	---	---	---	---					
SPRR4	163778	broad.mit.edu	37	1	152944387	152944389	+	In_Frame_Del	DEL	GCG	GCG	-	rs73010454	byFrequency	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:152944387_152944389delGCG	ENST00000328051.2	+	2	70_72	c.21_23delGCG	c.(19-24)cag>ca	p.QR7del		NM_173080.1	NP_775103.1	Q96PI1	SPRR4_HUMAN	small proline-rich protein 4	7	Gln-rich.				keratinization|peptide cross-linking	cell cortex				lung(1)|prostate(1)	2	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			agcagcagcagcggcagcagcag	0.552													31	1295	---	---	---	---					
COPA	1314	broad.mit.edu	37	1	160295426	160295427	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:160295426_160295427insT	ENST00000241704.7	-	7	741_742	c.512_513insA	c.(511-513)actfs	p.T171fs	COPA_ENST00000368069.3_Frame_Shift_Ins_p.T171fs	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	171					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CAGGGGACAGGTTTTTTTTCCT	0.406													8	934	---	---	---	---					
POU2F1	5451	broad.mit.edu	37	1	167385016	167385018	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:167385016_167385018delCCA	ENST00000367862.5	+	16	2472_2474	c.2237_2239delCCA	c.(2236-2241)tcc>t	p.ST746del	POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	734					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GGGGCTGCGTCCACCACCACCAC	0.601													7	1106	---	---	---	---					
SLC9C2	284525	broad.mit.edu	37	1	173552688	173552688	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:173552688delA	ENST00000367714.3	-	6	1019	c.597delT	c.(595-597)ttfs	p.F199fs	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Frame_Shift_Del_p.F97fs	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN	solute carrier family 9, member C2 (putative)	199					sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity										GAAAATTTCCAAAAAAAATTG	0.279													9	1224	---	---	---	---					
DHX9	1660	broad.mit.edu	37	1	182845333	182845333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:182845333delT	ENST00000367549.3	+	17	2074	c.1964delT	c.(1963-1965)gtfs	p.V655fs		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	655	Helicase C-terminal.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GCTGTGTTGGTTTTTTTGCCT	0.378													8	1331	---	---	---	---					
CENPF	1063	broad.mit.edu	37	1	214818826	214818826	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:214818826delA	ENST00000366955.3	+	13	6081	c.5913delA	c.(5911-5913)tcfs	p.S1971fs		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	2067					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATACTATGTCAAAAAAAACCA	0.408													7	595	---	---	---	---					
ARID4B	51742	broad.mit.edu	37	1	235357387	235357387	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:235357387delT	ENST00000264183.3	-	19	2563	c.2066delA	c.(2065-2067)acfs	p.N689fs	ARID4B_ENST00000349213.3_Frame_Shift_Del_p.N603fs|ARID4B_ENST00000366603.2_Frame_Shift_Del_p.N689fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	689					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			AGTATCAGAGTTTTTGGCATC	0.373													7	1213	---	---	---	---					
ERO1LB	56605	broad.mit.edu	37	1	236388388	236388388	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr1:236388388delT	ENST00000354619.5	-	13	1305	c.1104delA	c.(1102-1104)aafs	p.K368fs		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	368					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			ACTTGGCCCCTTTTTTGTCAC	0.403													10	1078	---	---	---	---					
ITGA6	0	broad.mit.edu	37	2	173335733	173335733	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr2:173335733delT	ENST00000375221.2	+	5	878	c.675delT	c.(673-675)acfs	p.T225fs	ITGA6_ENST00000343713.4_Intron|ITGA6_ENST00000409532.1_Intron|ITGA6_ENST00000264106.6_Frame_Shift_Del_p.T225fs|ITGA6_ENST00000409080.1_Frame_Shift_Del_p.T225fs|ITGA6_ENST00000264107.7_Frame_Shift_Del_p.T225fs			P23229	ITA6_HUMAN	integrin, alpha 6	225					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			AGAATAACACTTTTTTTGACA	0.348													8	520	---	---	---	---					
CNTN6	27255	broad.mit.edu	37	3	1371501	1371501	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:1371501delA	ENST00000446702.2	+	11	1873	c.1246delA	c.(1246-1248)aafs	p.K418fs	CNTN6_ENST00000350110.2_Frame_Shift_Del_p.K418fs|CNTN6_ENST00000539053.1_Frame_Shift_Del_p.K346fs			Q9UQ52	CNTN6_HUMAN	contactin 6	418	Ig-like C2-type 5.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.K418fs*63(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AAGTCCAGTTAAAAAAAAGTC	0.393													7	506	---	---	---	---					
EDEM1	9695	broad.mit.edu	37	3	5248941	5248941	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:5248941delT	ENST00000256497.4	+	7	1454	c.1321delT	c.(1321-1323)ttfs	p.F442fs	EDEM1_ENST00000445686.1_Frame_Shift_Del_p.F247fs	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	442					ER-associated protein catabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		TCTGCAGGCCTTTTTCCCTGG	0.463													9	415	---	---	---	---					
XIRP1	165904	broad.mit.edu	37	3	39228955	39228958	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:39228955_39228958delTGTC	ENST00000340369.3	-	2	2207_2210	c.1979_1982delGACA	c.(1978-1983)acfs	p.RH660fs	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Frame_Shift_Del_p.RH660fs	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	660							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CTCAAAGACGTGTCTGTCTGTCTG	0.618													7	233	---	---	---	---					
RBM15B	29890	broad.mit.edu	37	3	51430822	51430824	+	In_Frame_Del	DEL	CCA	CCA	-	rs147738916	byFrequency	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:51430822_51430824delCCA	ENST00000323686.4	+	1	2092_2094	c.1992_1994delCCA	c.(1990-1995)ggc>gg	p.GH664del		NM_013286.4	NP_037418.3	Q8NDT2	RB15B_HUMAN	RNA binding motif protein 15B	664	His-rich.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGGAACGGGGCCACCACCACCAC	0.635													7	107	---	---	---	---					
GABRR3	200959	broad.mit.edu	37	3	97731544	97731545	+	RNA	INS	-	-	AAGTAGATCT	rs148460547	by1000genomes	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr3:97731544_97731545insAAGTAGATCT	ENST00000472788.1	-	0	308					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						ATTGTAGTTTCaagtagatcta	0.381													7	13	---	---	---	---					
TAPT1	202018	broad.mit.edu	37	4	16189980	16189981	+	Splice_Site	INS	-	-	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:16189980_16189981insA	ENST00000405303.2	-	5	696		c.e5-2		TAPT1_ENST00000304584.8_Splice_Site|TAPT1_ENST00000508888.1_Splice_Site|TAPT1_ENST00000399920.3_Splice_Site	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1							integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						ATCAGCTACCTAAAAAAAAAAA	0.317													7	91	---	---	---	---					
WDFY3	23001	broad.mit.edu	37	4	85678099	85678099	+	Frame_Shift_Del	DEL	G	G	-	rs138292353		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:85678099delG	ENST00000322366.6	-	33	5811	c.5404delC	c.(5404-5406)ggfs	p.R1802fs	WDFY3_ENST00000295888.4_Frame_Shift_Del_p.R1802fs			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1802						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGCTTACTCCGGCAGCTGATG	0.488													91	850	---	---	---	---					
MFSD8	256471	broad.mit.edu	37	4	128861111	128861112	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:128861111_128861112insCA	ENST00000296468.3	-	7	721_722	c.594_595insTG	c.(592-597)gtcatgfs	p.M199fs	MFSD8_ENST00000541133.1_Intron|MFSD8_ENST00000513559.1_Frame_Shift_Ins_p.M154fs|MFSD8_ENST00000515130.1_5'UTR	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	199					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						ACATCCCATGTCACACCTTTTT	0.307													42	695	---	---	---	---					
OTUD4	54726	broad.mit.edu	37	4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:146077123_146077125delCAG	ENST00000454497.2	-	8	595_597	c.458_460delCTG	c.(457-462)gat>g	p.AD153del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.AD218del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	218	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.340													8	400	---	---	---	---					
FRG1	2483	broad.mit.edu	37	4	190873437	190873439	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr4:190873437_190873439delAAG	ENST00000226798.4	+	3	476_478	c.254_256delAAG	c.(253-258)aaa>a	p.KE85del	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	85					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		GCTCCACACAAAGAAGGTTTGTG	0.414													7	619	---	---	---	---					
CTD-2503O16.4	0	broad.mit.edu	37	5	74227325	74227325	+	RNA	DEL	C	C	-	rs146363494		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:74227325delC	ENST00000505200.1	-	0	335																											cagagaattgcttgaacccag	0.463													3	5	---	---	---	---					
AGGF1	55109	broad.mit.edu	37	5	76358966	76358967	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:76358966_76358967insA	ENST00000312916.7	+	14	2416_2417	c.2034_2035insA	c.(2032-2037)aaaaaafs	p.KK678fs		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	678					angiogenesis|cell adhesion|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|RNA processing|vasculogenesis	extracellular region|perinuclear region of cytoplasm	eukaryotic cell surface binding|nucleic acid binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		AAAACAAGAACAAAAAAAACTG	0.465													10	866	---	---	---	---					
AP3B1	8546	broad.mit.edu	37	5	77334906	77334907	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr5:77334906_77334907insT	ENST00000255194.6	-	23	2944_2945	c.2769_2770insA	c.(2767-2772)aattccfs	p.NS923fs	AP3B1_ENST00000523204.1_5'UTR|AP3B1_ENST00000519295.1_Frame_Shift_Ins_p.NS874fs	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	923					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	p.K923fs*4(1)		breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CCTATAGGAAGTTTTTTTTCCC	0.287									Hermansky-Pudlak syndrome				7	427	---	---	---	---					
DST	667	broad.mit.edu	37	6	56476324	56476324	+	Frame_Shift_Del	DEL	A	A	-	rs35805169		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:56476324delA	ENST00000370754.5	-	37	5029	c.5030delT	c.(5029-5031)tgfs	p.L1677fs	DST_ENST00000361203.3_Frame_Shift_Del_p.L1499fs|DST_ENST00000244364.6_Frame_Shift_Del_p.L1173fs|DST_ENST00000312431.6_Frame_Shift_Del_p.L1499fs|DST_ENST00000370769.4_Frame_Shift_Del_p.L1499fs|DST_ENST00000446842.2_Frame_Shift_Del_p.L1173fs|DST_ENST00000421834.2_Frame_Shift_Del_p.L1499fs|DST_ENST00000370788.2_Frame_Shift_Del_p.L1499fs			Q03001	DYST_HUMAN	dystonin	1499					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATGTTTTGCCAAAAAAAGCTG	0.353													7	293	---	---	---	---					
ASCC3	10973	broad.mit.edu	37	6	101248245	101248245	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:101248245delT	ENST00000369162.2	-	6	1402	c.1058delA	c.(1057-1059)agfs	p.K353fs	ASCC3_ENST00000522650.1_Frame_Shift_Del_p.K353fs	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		TTCTCCAGCCTTTTTTTCTCG	0.373													7	717	---	---	---	---					
WISP3	8838	broad.mit.edu	37	6	112389434	112389434	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:112389434delA	ENST00000361714.1	+	4	715	c.670delA	c.(670-672)aafs	p.K226fs	WISP3_ENST00000409166.1_5'UTR|WISP3_ENST00000368666.2_Frame_Shift_Del_p.K208fs|WISP3_ENST00000368663.3_Frame_Shift_Del_p.K185fs|WISP3_ENST00000604763.1_Frame_Shift_Del_p.K208fs|WISP3_ENST00000230529.5_Frame_Shift_Del_p.K208fs			O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	208	TSP type-1.				cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		ACTTATTTGGAAAAAAAAATG	0.333													14	331	---	---	---	---					
PHACTR2	9749	broad.mit.edu	37	6	144086413	144086414	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr6:144086413_144086414insA	ENST00000427704.2	+	6	807_808	c.677_678insA	c.(676-678)taafs	p.*226fs	PHACTR2_ENST00000305766.6_Frame_Shift_Ins_p.*146fs|PHACTR2_ENST00000367584.4_Frame_Shift_Ins_p.*214fs|PHACTR2_ENST00000367582.3_Frame_Shift_Ins_p.*157fs|PHACTR2_ENST00000440869.2_Frame_Shift_Ins_p.*237fs	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	226							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TCCTCTCATTCAAAAAAAACAA	0.396													11	603	---	---	---	---					
PHF14	9678	broad.mit.edu	37	7	11075380	11075381	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:11075380_11075381delAG	ENST00000403050.3	+	8	2021_2022	c.1569_1570delAG	c.(1567-1572)caagfs	p.QE523fs	PHF14_ENST00000445996.2_Frame_Shift_Del_p.QE238fs	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	523							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TGTCTTTGCAAGAGAGAGAGAA	0.376													8	859	---	---	---	---					
SP4	6671	broad.mit.edu	37	7	21469543	21469544	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:21469543_21469544insT	ENST00000222584.3	+	3	978_979	c.760_761insT	c.(760-762)aacfs	p.N254fs		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	254					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	35						GGCTCAAGTTGTAACAACCCTA	0.500													55	312	---	---	---	---					
HOXA1	3198	broad.mit.edu	37	7	27135317	27135319	+	In_Frame_Del	DEL	TGG	TGG	-	rs2074398	byFrequency	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:27135317_27135319delTGG	ENST00000343060.4	-	1	274_276	c.213_215delCCA	c.(211-216)cat>ca	p.HH71del	HOXA1_ENST00000355633.5_In_Frame_Del_p.HH71del|HOTAIRM1_ENST00000495032.1_RNA	NM_005522.4	NP_005513.1	P49639	HXA1_HUMAN	homeobox A1	71	Poly-His.					nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ggggtggcgatggtggtggtggt	0.640											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	10	269	---	---	---	---					
TRBV7-3	0	broad.mit.edu	37	7	142247473	142247474	+	RNA	DEL	AT	AT	-	rs150154096	by1000genomes	TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr7:142247473_142247474delAT	ENST00000390361.3	-	0	99																											acacacacacatacagacacac	0.559													7	759	---	---	---	---					
TOX	9760	broad.mit.edu	37	8	59750796	59750798	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr8:59750796_59750798delCTT	ENST00000361421.1	-	5	986_988	c.766_768delAAG	c.(766-768)del	p.K256del		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	256						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CATTGGGATCCTTCTTCTTCTTC	0.453													11	537	---	---	---	---					
DCAF13	25879	broad.mit.edu	37	8	104439486	104439487	+	Frame_Shift_Ins	INS	-	-	T			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr8:104439486_104439487insT	ENST00000521971.1	+	4	590_591	c.510_511insT	c.(508-513)atttttfs	p.IF170fs	DCAF13_ENST00000521999.1_Intron|DCAF13_ENST00000297579.5_Intron|DCAF13_ENST00000519682.1_Frame_Shift_Ins_p.IF206fs			Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TTGAGGTAATGTTTTTTTTTAA	0.277													30	170	---	---	---	---					
ATAD2	29028	broad.mit.edu	37	8	124368685	124368685	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr8:124368685delA	ENST00000287394.5	-	13	1697	c.1590delT	c.(1588-1590)ttfs	p.F530fs	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CAATTTCGTCAAAAAAAATAA	0.413													7	193	---	---	---	---					
ANKRD19P	0	broad.mit.edu	37	9	95600104	95600105	+	RNA	INS	-	-	T	rs75973812		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:95600104_95600105insT	ENST00000473204.1	+	0	2103																											AGTTATGGTTATTTTTTTTTTT	0.282													2	4	---	---	---	---					
FOXE1	2304	broad.mit.edu	37	9	100616701	100616706	+	In_Frame_Del	DEL	GCCGCC	GCCGCC	-	rs11279082		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:100616701_100616706delGCCGCC	ENST00000375123.3	+	1	1166_1171	c.505_510delGCCGCC	c.(505-510)del	p.AA177del		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	177	Ala-rich.|Poly-Ala.				cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				Ggctgccgcagccgccgccgccgccg	0.767													7	42	---	---	---	---					
GPSM1	26086	broad.mit.edu	37	9	139235482	139235482	+	Frame_Shift_Del	DEL	C	C	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr9:139235482delC	ENST00000392945.3	+	9	1459	c.1239delC	c.(1237-1239)ctfs	p.L413fs	GPSM1_ENST00000440944.1_Intron	NM_015597.4	NP_056412.4	Q86YR5	GPSM1_HUMAN	G-protein signaling modulator 1	0	Interaction with STK11/LKB1 (By similarity).|Mediates association with membranes (By similarity).				cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		GGGTCTTGCTCCCCACAGGCA	0.687													15	10	---	---	---	---					
DNAJC1	64215	broad.mit.edu	37	10	22208818	22208818	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr10:22208818delT	ENST00000376980.3	-	5	868	c.578delA	c.(577-579)agfs	p.K193fs		NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	193					negative regulation of proteolysis|regulation of protein secretion|regulation of transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	ATPase activator activity|DNA binding|heat shock protein binding|unfolded protein binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GCTGCCAGTCTTTTTTTTCTT	0.303													8	829	---	---	---	---					
CUL2	8453	broad.mit.edu	37	10	35327850	35327850	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr10:35327850delT	ENST00000374748.1	-	10	1188	c.875delA	c.(874-876)atfs	p.N292fs	CUL2_ENST00000374742.1_Frame_Shift_Del_p.N292fs|CUL2_ENST00000374751.3_Frame_Shift_Del_p.N292fs|CUL2_ENST00000602371.1_Frame_Shift_Del_p.N235fs|CUL2_ENST00000374746.1_Frame_Shift_Del_p.N292fs|CUL2_ENST00000537177.1_Frame_Shift_Del_p.N311fs|CUL2_ENST00000374749.3_Frame_Shift_Del_p.N292fs			Q13617	CUL2_HUMAN	cullin 2	292					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TCACTTACCATTTTTTTTCTC	0.313													7	600	---	---	---	---					
PCDH15	65217	broad.mit.edu	37	10	55587198	55587200	+	In_Frame_Del	DEL	GGC	GGC	-	rs12246234		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr10:55587198_55587200delGGC	ENST00000373965.2	-	33	4735_4737	c.4341_4343delGCC	c.(4339-4344)cct>cc	p.PP1449del	PCDH15_ENST00000361849.3_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395445.1_In_Frame_Del_p.PP1449del|PCDH15_ENST00000409834.1_In_Frame_Del_p.PP1053del|PCDH15_ENST00000437009.1_In_Frame_Del_p.PP1371del|PCDH15_ENST00000414778.1_In_Frame_Del_p.PP1444del|PCDH15_ENST00000395433.1_In_Frame_Del_p.PP1417del|PCDH15_ENST00000395432.2_In_Frame_Del_p.PP1402del|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000320301.6_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395438.1_In_Frame_Del_p.PP1442del|PCDH15_ENST00000395430.1_In_Frame_Del_p.PP1439del	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1442					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACCTggcggaggcggcggcggcg	0.571										HNSCC(58;0.16)			7	405	---	---	---	---					
ANK3	288	broad.mit.edu	37	10	61828745	61828747	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr10:61828745_61828747delGTG	ENST00000280772.1	-	37	12083_12085	c.11892_11894delCAC	c.(11890-11895)act>ac	p.TT3964del	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3964	Thr-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ggtggtggcagtggtggtggtgg	0.498													8	590	---	---	---	---					
PRB2	653247	broad.mit.edu	37	12	11546788	11546790	+	In_Frame_Del	DEL	GGA	GGA	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:11546788_11546790delGGA	ENST00000389362.4	-	3	257_259	c.222_224delTCC	c.(220-225)cca>cc	p.PP74del	PRB1_ENST00000546254.1_Intron	NM_006248.3	NP_006239.3			proline-rich protein BstNI subfamily 2											NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGCTTTCCTGGAGGAGGTGGGG	0.601													7	1312	---	---	---	---					
OR6C75	390323	broad.mit.edu	37	12	55759192	55759192	+	Frame_Shift_Del	DEL	T	T	-	rs75456529		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:55759192delT	ENST00000343399.3	+	1	298	c.298delT	c.(298-300)ttfs	p.F102fs		NM_001005497.1	NP_001005497.1	A6NL08	O6C75_HUMAN	olfactory receptor, family 6, subfamily C, member 75	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						GGCTCAGCTATTTTTTTTCAT	0.438													17	906	---	---	---	---					
HELB	92797	broad.mit.edu	37	12	66709127	66709128	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:66709127_66709128insA	ENST00000247815.4	+	6	2023_2024	c.1964_1965insA	c.(1963-1965)agcfs	p.S655fs		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	655					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		ACAAACCATAGAGCAGAATCTC	0.342													67	567	---	---	---	---					
HIP1R	9026	broad.mit.edu	37	12	123333155	123333170	+	Splice_Site	DEL	TGTGAGTAGCAGCTGC	TGTGAGTAGCAGCTGC	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr12:123333155_123333170delTGTGAGTAGCAGCTGC	ENST00000253083.4	+	3	425	c.300_splice	c.e3+1	p.100_splice		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	100	ENTH.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		GGCACCCCAATGTGAGTAGCAGCTGCTGCCTCTGCT	0.662													17	194	---	---	---	---					
SLITRK5	26050	broad.mit.edu	37	13	88330019	88330021	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr13:88330019_88330021delGCA	ENST00000325089.6	+	2	2595_2597	c.2376_2378delGCA	c.(2374-2379)ctg>ct	p.LQ792del	SLITRK5_ENST00000400028.3_In_Frame_Del_p.LQ551del	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	792						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					ACCACCACCTgcagcagcagcag	0.655													8	212	---	---	---	---					
TPP2	7174	broad.mit.edu	37	13	103266497	103266498	+	Frame_Shift_Ins	INS	-	-	A			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr13:103266497_103266498insA	ENST00000376052.3	+	3	357_358	c.341_342insA	c.(340-342)aaafs	p.K114fs	TPP2_ENST00000376065.4_Frame_Shift_Ins_p.K114fs			P29144	TPP2_HUMAN	tripeptidyl peptidase II	114					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CATATTGGCATAAAAAATGGCT	0.371													11	416	---	---	---	---					
SIPA1L1	26037	broad.mit.edu	37	14	72190482	72190484	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr14:72190482_72190484delTCC	ENST00000555818.1	+	16	4738_4740	c.4390_4392delTCC	c.(4390-4392)del	p.S1468del	SIPA1L1_ENST00000381232.3_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000358550.2_In_Frame_Del_p.S1447del|SIPA1L1_ENST00000537413.1_In_Frame_Del_p.S922del|SIPA1L1_ENST00000554874.1_3'UTR	NM_015556.1	NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1468	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ctcctcctcttcctcctcctcct	0.552													7	471	---	---	---	---					
PTPN21	11099	broad.mit.edu	37	14	88940113	88940113	+	Frame_Shift_Del	DEL	T	T	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr14:88940113delT	ENST00000556564.1	-	14	2829	c.2545delA	c.(2545-2547)ttfs	p.I849fs	PTPN21_ENST00000328736.3_Frame_Shift_Del_p.I849fs	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	849						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AGAGGACCAATTTTTTTTGCA	0.393													7	456	---	---	---	---					
PTPN21	11099	broad.mit.edu	37	14	88945628	88945630	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr14:88945628_88945630delTCC	ENST00000556564.1	-	13	2429_2431	c.2145_2147delGGA	c.(2143-2148)gac>ga	p.ED717del	PTPN21_ENST00000328736.3_In_Frame_Del_p.ED717del	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	717	Poly-Glu.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GAAGTCCTCGTCCTCCTCCTCCT	0.704													7	143	---	---	---	---					
TMEM121	80757	broad.mit.edu	37	14	105996050	105996052	+	In_Frame_Del	DEL	GCC	GCC	-	rs5811180		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr14:105996050_105996052delGCC	ENST00000392519.2	+	2	1043_1045	c.879_881delGCC	c.(877-882)gtg>gt	p.VP293del	TMEM121_ENST00000431372.1_In_Frame_Del_p.VP293del	NM_025268.2	NP_079544.1	Q9BTD3	TM121_HUMAN	transmembrane protein 121	293	Pro-rich.					integral to membrane				endometrium(2)|lung(1)	3		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.0959)|all cancers(159;0.235)		GCAACTCGGTgccgccgccgccg	0.768													4	4	---	---	---	---					
SNHG14	0	broad.mit.edu	37	15	25337049	25337050	+	RNA	DEL	GA	GA	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr15:25337049_25337050delGA	ENST00000546682.1	+	0	969				SNHG14_ENST00000549804.2_RNA|SNHG14_ENST00000553108.1_RNA	NR_003361.1																						ACTGGAGCTGGAGAGAGAGAGA	0.500													7	862	---	---	---	---					
Z97634.5	0	broad.mit.edu	37	16	437287	437288	+	RNA	INS	-	-	A	rs137908843		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr16:437287_437288insA	ENST00000412293.1	+	0	521					NR_024453.2																						cttgtcaccataaaaaaaaaaa	0.426													7	65	---	---	---	---					
SLC5A11	115584	broad.mit.edu	37	16	24921737	24921739	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr16:24921737_24921739delCAG	ENST00000347898.3	+	15	2383_2385	c.1761_1763delCAG	c.(1759-1764)gcc>gc	p.AS587del	SLC5A11_ENST00000569071.1_In_Frame_Del_p.AS431del|SLC5A11_ENST00000449109.2_In_Frame_Del_p.AS431del|SLC5A11_ENST00000567758.1_In_Frame_Del_p.AS552del|SLC5A11_ENST00000545376.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000568579.1_In_Frame_Del_p.AS517del|SLC5A11_ENST00000565769.1_In_Frame_Del_p.AS523del|SLC5A11_ENST00000424767.2_In_Frame_Del_p.AS552del|SLC5A11_ENST00000539472.1_In_Frame_Del_p.AS523del	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	587					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TGCCAGAGGCCAGCAGCAGCAGC	0.542													11	271	---	---	---	---					
CHD3	1107	broad.mit.edu	37	17	7801857	7801859	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr17:7801857_7801859delAAG	ENST00000380358.4	+	13	2273_2275	c.2272_2274delAAG	c.(2272-2274)del	p.K762del	CHD3_ENST00000330494.7_In_Frame_Del_p.K703del|CHD3_ENST00000358181.4_In_Frame_Del_p.K703del	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	703	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCGCAAGTATAAGAAGAAGAAGA	0.488													7	285	---	---	---	---					
RAI1	10743	broad.mit.edu	37	17	17699993	17699995	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr17:17699993_17699995delGCA	ENST00000353383.1	+	3	4200_4202	c.3731_3733delGCA	c.(3730-3735)cgc>c	p.RS1244del	RAI1_ENST00000261641.6_In_Frame_Del_p.RS1244del	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1244	Poly-Ser.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TTGCGGAGCCGCAGCAGCAGCAG	0.626													7	175	---	---	---	---					
PPM1D	8493	broad.mit.edu	37	17	58740624	58740624	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr17:58740624delA	ENST00000305921.3	+	6	1761	c.1529delA	c.(1528-1530)cafs	p.Q510fs		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	510					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity	p.N512fs*2(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GTCATGGACCAAAAAAATTTG	0.378											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	8	530	---	---	---	---					
SRP68	6730	broad.mit.edu	37	17	74068528	74068530	+	In_Frame_Del	DEL	GCC	GCC	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr17:74068528_74068530delGCC	ENST00000307877.2	-	1	204_206	c.43_45delGGC	c.(43-45)del	p.G15del	SRP68_ENST00000539137.1_In_Frame_Del_p.G15del|SRP68_ENST00000355113.5_5'UTR	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	15	Poly-Gly.			Missing (in Ref. 1).	response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						cgccgccactgccgccgccgccg	0.709													11	354	---	---	---	---					
TNFSF9	8744	broad.mit.edu	37	19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)ggg>gg	p.GL34del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	34					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768													7	186	---	---	---	---					
CTC-457E21.3	0	broad.mit.edu	37	19	22779215	22779215	+	RNA	DEL	G	G	-	rs113336402		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:22779215delG	ENST00000600260.1	+	0	157					NR_033899.1																						CAGCAGCAAAGAAAAAGGTAC	0.612													10	9	---	---	---	---					
PNMAL1	55228	broad.mit.edu	37	19	46973195	46973197	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:46973195_46973197delCTT	ENST00000313683.10	-	2	1401_1403	c.1096_1098delAAG	c.(1096-1098)del	p.K366del	PNMAL1_ENST00000602246.1_Intron|PNMAL1_ENST00000438932.2_Splice_Site_p.K366_splice	NM_001103149.1|NM_018215.3	NP_001096619.1|NP_060685.2	Q86V59	PNML1_HUMAN	paraneoplastic Ma antigen family-like 1	366										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CCAAGCTCACCTTCTTCTTCTTC	0.562													8	950	---	---	---	---					
SIGLEC8	27181	broad.mit.edu	37	19	51961617	51961619	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr19:51961617_51961619delGCA	ENST00000321424.3	-	1	89_91	c.23_25delTGC	c.(22-27)ccc>c	p.LP8del	SIGLEC8_ENST00000430817.1_In_Frame_Del_p.LP8del|SIGLEC8_ENST00000340550.5_In_Frame_Del_p.LP8del	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	8					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGagcaggggcagcagcagcag	0.596													7	289	---	---	---	---					
GDF5	8200	broad.mit.edu	37	20	34022447	34022448	+	Frame_Shift_Ins	INS	-	-	G			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr20:34022447_34022448insG	ENST00000374372.1	-	4	1268_1269	c.765_766insC	c.(763-768)ccgaggfs	p.R256fs	GDF5OS_ENST00000374375.1_Frame_Shift_Ins_p.R164fs|GDF5_ENST00000374369.3_Frame_Shift_Ins_p.R256fs			P43026	GDF5_HUMAN	growth differentiation factor 5	256				APGGG -> VPRSR (in Ref. 2; AAA57007).	cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CGCCCGCCTCCGGGGGCCGCTG	0.698													8	262	---	---	---	---					
BCAS1	8537	broad.mit.edu	37	20	52645037	52645037	+	Frame_Shift_Del	DEL	T	T	-	rs143209009		TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chr20:52645037delT	ENST00000395961.3	-	4	783	c.617delA	c.(616-618)agfs	p.K206fs	BCAS1_ENST00000371440.3_Frame_Shift_Del_p.K206fs|BCAS1_ENST00000371435.2_Frame_Shift_Del_p.K206fs|BCAS1_ENST00000411563.1_Frame_Shift_Del_p.K109fs	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	206						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			ACCTGGCACCTTTTCCTGTCC	0.552													7	1189	---	---	---	---					
RAI2	10742	broad.mit.edu	37	X	17818550	17818550	+	Frame_Shift_Del	DEL	A	A	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:17818550delA	ENST00000545871.1	-	3	2041	c.1581delT	c.(1579-1581)ttfs	p.F527fs	RAI2_ENST00000451717.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000415486.3_Frame_Shift_Del_p.F477fs|RAI2_ENST00000360011.1_Frame_Shift_Del_p.F527fs|RAI2_ENST00000331511.1_Frame_Shift_Del_p.F527fs	NM_001172739.1|NM_001172743.1	NP_001166210.1|NP_001166214.1	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	527					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ACTTTCTTGGAAAAAAGGTGG	0.333													8	2212	---	---	---	---					
CNKSR2	22866	broad.mit.edu	37	X	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:21627678_21627680delGAG	ENST00000425654.2	+	19	3025_3027	c.2545_2547delGAG	c.(2545-2547)del	p.E856del	CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517													7	167	---	---	---	---					
MED12	9968	broad.mit.edu	37	X	70360648	70360650	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:70360648_70360650delCAG	ENST00000333646.6	+	42	6416_6418	c.6217_6219delCAG	c.(6217-6219)del	p.Q2079del	MED12_ENST00000374102.1_In_Frame_Del_p.Q2075del|MED12_ENST00000478889.1_3'UTR|MED12_ENST00000374080.3_In_Frame_Del_p.Q2076del	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	2076	Gln-rich.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					gcaacagcaacagcagcagcagc	0.621			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						9	203	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76812945	76812947	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:76812945_76812947delTCT	ENST00000373344.5	-	30	6888_6890	c.6674_6676delAGA	c.(6673-6678)agg>a	p.KR2225del	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.KR2187del	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2225	Poly-Lys.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GGAGTATCCCTCTTCTTCTTCTT	0.365			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						8	1135	---	---	---	---					
HTATSF1	27336	broad.mit.edu	37	X	135585048	135585050	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-LB-A8F3-01A-11D-A36O-08	TCGA-LB-A8F3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d875181-2048-4fa9-9dda-6fd59784c583	2bbbc64a-f365-4fcb-8de2-b6ca00f3cb4a	g.chrX:135585048_135585050delAAG	ENST00000535601.1	+	6	1104_1106	c.682_684delAAG	c.(682-684)del	p.K232del	HTATSF1_ENST00000218364.4_In_Frame_Del_p.K232del	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	232	Poly-Lys.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGATGCCTCAAAGAAGAAGAAGA	0.335													13	606	---	---	---	---