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
SNX13	23161	broad.mit.edu	37	7	17879515	17879515	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr7:17879515C>T	ENST00000409389.1	-	13	1446	c.1274G>A	c.(1273-1275)aGa>aAa	p.R425K	SNX13_ENST00000428135.3_Missense_Mutation_p.R425K			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	425	RGS.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TTTTCCATCTCTCTGACGACT	0.413000													6	34					0	0	1	0	0
ARHGEF10L	55160	broad.mit.edu	37	1	17958953	17958953	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:17958953C>G	ENST00000361221.3	+	16	1881	c.1722C>G	c.(1720-1722)atC>atG	p.I574M	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.I535M|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.I574M|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.I352M|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.I535M|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.I332M|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.I282M	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	574					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		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;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GTGCCAACATCAACTTCAAGT	0.597000													19	132					0	0	1	0	0
WDTC1	23038	broad.mit.edu	37	1	27631682	27631682	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:27631682G>C	ENST00000319394.3	+	15	2369	c.1834G>C	c.(1834-1836)Gag>Cag	p.E612Q	WDTC1_ENST00000361771.3_Missense_Mutation_p.E611Q	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	612							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CCCCCGACCAGAGGTGAGGGT	0.617000													7	24					0	0	1	0	0
PDZD7	79955	broad.mit.edu	37	10	102789913	102789913	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:102789913G>A	ENST00000370215.3	-	2	289	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L	PDZD7_ENST00000470414.1_Silent_p.L22L	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	22						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		AGGGAGCTCAGAGAGCCGGAG	0.662000													4	24					0	0	1	0	0
RTTN	25914	broad.mit.edu	37	18	67816249	67816249	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr18:67816249G>C	ENST00000255674.6	-	17	2483	c.2197C>G	c.(2197-2199)Ctg>Gtg	p.L733V	RTTN_ENST00000437017.1_Missense_Mutation_p.L733V|RTTN_ENST00000454359.1_Missense_Mutation_p.L733V	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	733							binding	p.L733V(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CAGTTACCCAGAGGATCTTCT	0.368000													19	91					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29633900	29633900	+	Missense_Mutation	SNP	A	A	G	rs60081496	by1000genomes	TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:29633900A>G	ENST00000278882.3	+	9	919	c.539A>G	c.(538-540)gAa>gGa	p.E180G	FRG1B_ENST00000358464.4_Missense_Mutation_p.E180G														p.E180G(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TAAACAAGAGAACCAAATTGA	0.264000													3	52					0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3211439	3211439	+	Silent	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:3211439G>T	ENST00000380059.3	-	11	1451	c.1350C>A	c.(1348-1350)ctC>ctA	p.L450L	SLC4A11_ENST00000380056.3_Silent_p.L423L|SLC4A11_ENST00000539553.2_Silent_p.L407L	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	423	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GCCCAGAGAAGAGCGCGTAGA	0.687000													6	32					0.335167	0.337632	1	1	0
UHRF1BP1L	23074	broad.mit.edu	37	12	100453074	100453074	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:100453074C>T	ENST00000279907.7	-	14	2193	c.1981G>A	c.(1981-1983)Gct>Act	p.A661T	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.A311T	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	661										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGTTCATGAGCATGTCTCTGG	0.318000													3	56					0	0	1	0	0
VPS13D	55187	broad.mit.edu	37	1	12389897	12389897	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:12389897C>G	ENST00000358136.3	+	37	8339	c.8209C>G	c.(8209-8211)Ctt>Gtt	p.L2737V	VPS13D_ENST00000356315.4_Missense_Mutation_p.L2737V	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2737					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCTGAATTTTCTTCAGCGTGT	0.428000													11	39					0	0	1	0	0
EPS8L2	64787	broad.mit.edu	37	11	720214	720214	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:720214C>T	ENST00000533256.1	+	6	693	c.318C>T	c.(316-318)atC>atT	p.I106I	EPS8L2_ENST00000526198.1_Silent_p.I106I|EPS8L2_ENST00000318562.8_Silent_p.I106I|EPS8L2_ENST00000530636.1_Silent_p.I106I|AP006621.9_ENST00000527021.2_RNA			Q9H6S3	ES8L2_HUMAN	EPS8-like 2	106	PID.					cytoplasm				NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|pancreas(1)|prostate(2)|soft_tissue(1)|urinary_tract(1)	13		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;4.37e-27)|Epithelial(43;2.81e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-20)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTGGACATCGAGTCACAGG	0.672000													6	31					0	0	1	0	0
ABCG5	64240	broad.mit.edu	37	2	44040419	44040419	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:44040419G>A	ENST00000543989.1	-	9	2312	c.607C>T	c.(607-609)Cca>Tca	p.P203S	ABCG5_ENST00000405322.1_Missense_Mutation_p.P427S|ABCG5_ENST00000260645.1_Missense_Mutation_p.P598S			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	598	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GCACACATTGGATTAGTTGTC	0.363000													9	29					0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44778410	44778410	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:44778410G>C	ENST00000391958.2	+	5	1724	c.1597G>C	c.(1597-1599)Gag>Cag	p.E533Q	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Missense_Mutation_p.E515Q|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TCACAAAGGAGAGAAGCCATA	0.468000													8	59					0	0	1	0	0
HHLA2	11148	broad.mit.edu	37	3	108076964	108076964	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:108076964C>G	ENST00000357759.5	+	6	1373	c.959C>G	c.(958-960)tCt>tGt	p.S320C	HHLA2_ENST00000489514.2_Missense_Mutation_p.S320C|HHLA2_ENST00000467761.1_Missense_Mutation_p.S320C|HHLA2_ENST00000491820.1_Missense_Mutation_p.S320C|HHLA2_ENST00000467562.1_Missense_Mutation_p.S256C	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	320	Ig-like V-type 2.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TGCAATATTTCTTCGGATGAA	0.378000													3	63					0	0	1	0	0
MAT1A	4143	broad.mit.edu	37	10	82043687	82043687	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:82043687C>T	ENST00000372213.3	-	3	537	c.277G>A	c.(277-279)Gat>Aat	p.D93N		NM_000429.2	NP_000420.1	Q00266	METK1_HUMAN	methionine adenosyltransferase I, alpha	93					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	GCTGAGTCATCGTAGCCGATG	0.587000													15	75					0	0	1	0	0
ATP1A1	476	broad.mit.edu	37	1	116931580	116931580	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:116931580C>T	ENST00000537345.1	+	7	1056	c.693C>T	c.(691-693)ttC>ttT	p.F231F	ATP1A1_ENST00000491156.1_3'UTR|ATP1A1_ENST00000295598.5_Silent_p.F231F|ATP1A1_ENST00000369496.4_Silent_p.F200F	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	231					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	CTCCAGATTTCACAAATGAAA	0.443000													5	60					0	0	1	0	0
PHACTR4	65979	broad.mit.edu	37	1	28818294	28818294	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:28818294G>A	ENST00000373839.3	+	12	2272	c.2011G>A	c.(2011-2013)Gac>Aac	p.D671N	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Missense_Mutation_p.D681N	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	671							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		GACCCCTGCTGACAAGGTACC	0.423000													3	63					0	0	1	0	0
ADPRHL1	113622	broad.mit.edu	37	13	114077230	114077230	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr13:114077230G>A	ENST00000356501.4	-	7	901	c.726C>T	c.(724-726)ctC>ctT	p.L242L	ADPRHL1_ENST00000375418.3_Silent_p.L324L	NM_199162.1	NP_954631.1	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	324					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CTTTGGGAACGAGGTCCAGGC	0.617000													27	83					0	0	1	0	0
COL23A1	91522	broad.mit.edu	37	5	177690246	177690246	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:177690246G>A	ENST00000390654.3	-	9	959	c.602C>T	c.(601-603)aCt>aTt	p.T201I	COL23A1_ENST00000407622.1_Missense_Mutation_p.T165I	NM_173465.3	NP_775736.2	Q86Y22	CONA1_HUMAN	collagen, type XXIII, alpha 1	201	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		ATCTTTCCCAGTGTCGCCAGG	0.647000													7	27					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64950860	64950860	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:64950860C>T	ENST00000399262.2	-	17	6303	c.6085G>A	c.(6085-6087)Gaa>Aaa	p.E2029K	JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.E1847K|JMJD1C_ENST00000402544.1_Missense_Mutation_p.E1792K	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2029					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGGGTAAGTTCTTTGTTTTCT	0.398000													6	30					0	0	1	0	0
LRRC19	64922	broad.mit.edu	37	9	26995683	26995683	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:26995683C>T	ENST00000380055.5	-	5	1059	c.949G>A	c.(949-951)Gaa>Aaa	p.E317K	IFT74_ENST00000443698.1_Intron|IFT74_ENST00000380062.5_Intron|IFT74_ENST00000429045.2_Intron|IFT74_ENST00000433700.1_Intron|LRRC19_ENST00000482770.1_5'UTR	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	317						integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		AAACCATCTTCATAGGTTTCT	0.343000													9	67					0	0	1	0	0
ATP8B2	57198	broad.mit.edu	37	1	154300640	154300640	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:154300640G>A	ENST00000368489.3	+	2	122	c.122G>A	c.(121-123)cGc>cAc	p.R41H	ATP8B2_ENST00000368487.3_Missense_Mutation_p.R8H	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	24					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GCAAAAAAGCGCCCCCCAGGT	0.542000													6	58					0	0	1	0	0
LARP4B	23185	broad.mit.edu	37	10	888915	888915	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:888915C>A	ENST00000316157.3	-	6	643	c.603G>T	c.(601-603)aaG>aaT	p.K201N		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	201	HTH La-type RNA-binding.						nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TGCTGAGCTTCTTGATGTGGT	0.388000													5	47					3.59834e-05	3.80673e-05	1	1	0
DBR1	51163	broad.mit.edu	37	3	137888979	137888979	+	Silent	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:137888979C>G	ENST00000260803.4	-	4	612	c.459G>C	c.(457-459)gtG>gtC	p.V153V	DBR1_ENST00000505015.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	153						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CAATATTTCTCACATGATATA	0.299000													12	77					0	0	1	0	0
DYNC2LI1	51626	broad.mit.edu	37	2	44036905	44036905	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:44036905G>A	ENST00000260605.8	+	13	1155	c.1055G>A	c.(1054-1056)tGa>tAa	p.*352*	DYNC2LI1_ENST00000443170.3_Silent_p.*226*|DYNC2LI1_ENST00000605786.1_Silent_p.*353*	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	0						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTTGATTCTTGAACCTATTTC	0.274000													4	13					0	0	1	0	0
SLC4A11	83959	broad.mit.edu	37	20	3211823	3211823	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:3211823G>T	ENST00000380059.3	-	9	1244	c.1143C>A	c.(1141-1143)ttC>ttA	p.F381L	SLC4A11_ENST00000380056.3_Missense_Mutation_p.F354L|SLC4A11_ENST00000539553.2_Missense_Mutation_p.F338L	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	354	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGTACAAGGGGAACCTGCGTG	0.602000													13	128					1.5739e-10	1.76019e-10	1	1	0
RAB11FIP5	26056	broad.mit.edu	37	2	73315528	73315528	+	Silent	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:73315528C>G	ENST00000258098.6	-	3	1458	c.1218G>C	c.(1216-1218)ctG>ctC	p.L406L	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	406					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	p.L406L(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CCTGAGCACTCAGCTCCTCCT	0.657000													14	53					0	0	1	0	0
EXPH5	23086	broad.mit.edu	37	11	108384321	108384321	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:108384321C>T	ENST00000265843.4	-	6	2023	c.1913G>A	c.(1912-1914)aGa>aAa	p.R638K	EXPH5_ENST00000428840.1_Missense_Mutation_p.R562K|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000525344.1_Missense_Mutation_p.R631K|EXPH5_ENST00000443411.1_Missense_Mutation_p.R450K	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	638					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGGATTCCTTCTGTCATCAGA	0.408000													12	75					0	0	1	0	0
TP73	7161	broad.mit.edu	37	1	3640003	3640003	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:3640003G>A	ENST00000378295.4	+	6	857	c.702G>A	c.(700-702)caG>caA	p.Q234Q	TP73_ENST00000354437.4_Silent_p.Q234Q|TP73_ENST00000357733.3_Silent_p.Q234Q|TP73_ENST00000604479.1_Silent_p.Q234Q|TP73_ENST00000604074.1_Silent_p.Q234Q|TP73_ENST00000378290.4_Silent_p.Q163Q|TP73_ENST00000346387.4_Silent_p.Q234Q|TP73_ENST00000378285.1_Silent_p.Q185Q|TP73_ENST00000603362.1_Silent_p.Q234Q|TP73_ENST00000378280.1_Silent_p.Q185Q|TP73_ENST00000378288.4_Silent_p.Q185Q	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	234	DNA-binding (Potential).				cellular response to UV|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|mismatch repair|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of JUN kinase activity|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|protein tetramerization|response to gamma radiation|response to X-ray	chromatin|cytosol|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|metal ion binding|p53 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|transcription repressor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CCGGCAGGCAGAGCGTCGTGG	0.657000													5	39					0	0	1	0	0
FAM83H	286077	broad.mit.edu	37	8	144811408	144811408	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr8:144811408T>C	ENST00000388913.3	-	3	658	c.533A>G	c.(532-534)tAc>tGc	p.Y178C		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	178					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGCAGGATGTAGACTGGGAC	0.632000													24	99					0	0	1	0	0
EXOC8	149371	broad.mit.edu	37	1	231471422	231471422	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:231471422C>G	ENST00000366645.1	-	1	2176	c.2058G>C	c.(2056-2058)gaG>gaC	p.E686D	EXOC8_ENST00000360394.2_Missense_Mutation_p.E690D			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	690					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CAAACCTTTTCTCCACCACAG	0.423000													30	130					0	0	1	0	0
CLIP1	6249	broad.mit.edu	37	12	122825899	122825899	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:122825899C>T	ENST00000358808.2	-	10	1973	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N	CLIP1_ENST00000361654.4_Missense_Mutation_p.D572N|CLIP1_ENST00000302528.7_Missense_Mutation_p.D607N|CLIP1_ENST00000540338.1_Missense_Mutation_p.D618N|CLIP1_ENST00000545889.1_Missense_Mutation_p.D308N|CLIP1_ENST00000537178.1_Missense_Mutation_p.D572N	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	618					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GCTATCACATCTGAGTTCTCT	0.478000													18	67					0	0	1	0	0
POLG2	11232	broad.mit.edu	37	17	62486958	62486958	+	Missense_Mutation	SNP	A	A	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:62486958A>C	ENST00000539111.2	-	4	991	c.924T>G	c.(922-924)gaT>gaG	p.D308E		NM_007215.3	NP_009146.2	Q9UHN1	DPOG2_HUMAN	polymerase (DNA directed), gamma 2, accessory subunit	308					DNA repair|DNA-dependent DNA replication|glycyl-tRNA aminoacylation	mitochondrial chromosome	ATP binding|DNA-directed DNA polymerase activity|glycine-tRNA ligase activity|identical protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(4)|skin(2)|stomach(1)|urinary_tract(1)	15	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;4.97e-11)			AAAGTTCGTGATCTCCTAGGT	0.393000													9	101					0	0	1	0	0
FANCE	2178	broad.mit.edu	37	6	35426107	35426107	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:35426107C>T	ENST00000229769.2	+	5	1188	c.1003C>T	c.(1003-1005)Cag>Tag	p.Q335*		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	335	Interaction with FANCC.				DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						GCAGCTCCCTCAGCTCTCAGA	0.602000			"""N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				43	146					0	0	1	0	0
FKBP15	23307	broad.mit.edu	37	9	115950730	115950730	+	Silent	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:115950730A>G	ENST00000238256.3	-	13	1332	c.1215T>C	c.(1213-1215)acT>acC	p.T405T		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	405					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GGACGGACGGAGTCACCACAG	0.567000													9	53					0	0	1	0	0
HCN1	348980	broad.mit.edu	37	5	45303768	45303768	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:45303768G>A	ENST00000303230.4	-	6	1608	c.1551C>T	c.(1549-1551)caC>caT	p.H517H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	517						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.H517H(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CAGCAACACCGTGTTGAATGA	0.388000													7	69					0	0	1	0	0
CLEC4A	50856	broad.mit.edu	37	12	8288244	8288244	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:8288244C>G	ENST00000229332.5	+	4	609	c.362C>G	c.(361-363)tCt>tGt	p.S121C	CLEC4A_ENST00000360500.3_Missense_Mutation_p.S82C|CLEC4A_ENST00000345999.3_Missense_Mutation_p.S49C|CLEC4A_ENST00000352620.3_Missense_Mutation_p.S88C	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A	121	C-type lectin.				cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		TACTTTATTTCTACTGAATCA	0.438000													3	69					0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137293529	137293529	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:137293529C>G	ENST00000481739.1	+	2	132	c.80C>G	c.(79-81)tCc>tGc	p.S27C	RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	27	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GGGCGAGGCTCCATGGCTGCC	0.662000													25	54					0	0	1	0	0
PHOSPHO2	493911	broad.mit.edu	37	2	170557854	170557854	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:170557854C>T	ENST00000359744.3	+	4	761	c.373C>T	c.(373-375)Cca>Tca	p.P125S	KLHL23_ENST00000602521.1_Intron|KLHL23_ENST00000272797.4_Intron	NM_001008489.3|NM_001199285.1|NM_001199286.1|NM_001199288.1	NP_001008489.1|NP_001186214.1|NP_001186215.1|NP_001186217.1	Q8TCD6	PHOP2_HUMAN	phosphatase, orphan 2	125							metal ion binding|pyridoxal phosphatase activity			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						GTTTACAAATCCAGCAGCTTT	0.323000													6	34					0	0	1	0	0
CEP55	55165	broad.mit.edu	37	10	95275294	95275294	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:95275294A>G	ENST00000371485.3	+	5	965	c.661A>G	c.(661-663)Aaa>Gaa	p.K221E		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	221	Interaction with TSG101.				cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				ACAGCAGACAAAAAAGCCTGA	0.378000													16	61					0	0	1	0	0
CNTLN	54875	broad.mit.edu	37	9	17502622	17502622	+	Missense_Mutation	SNP	A	A	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:17502622A>T	ENST00000380647.3	+	26	4277	c.4193A>T	c.(4192-4194)tAt>tTt	p.Y1398F	CNTLN_ENST00000425824.1_Missense_Mutation_p.Y1398F			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	0	Poly-Ser.					centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GTTGAAGGATATTTCACAATT	0.279000													4	14					0	0	1	0	0
SLC26A4	5172	broad.mit.edu	37	7	107329646	107329646	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr7:107329646G>A	ENST00000265715.3	+	9	1373		c.e9+1			NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4						regulation of pH|regulation of protein localization|sensory perception of sound	apical plasma membrane|integral to membrane	chloride transmembrane transporter activity|inorganic anion exchanger activity|iodide transmembrane transporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGGGAACCAGGTATGGGTGCC	0.433000									Pendred syndrome				18	105					0	0	1	0	0
TGM4	7047	broad.mit.edu	37	3	44943347	44943347	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:44943347G>C	ENST00000296125.4	+	8	963	c.895G>C	c.(895-897)Gaa>Caa	p.E299Q		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	299					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TCACGACACAGAAAGGAACCT	0.542000													11	57					0	0	1	0	0
FRS3	10817	broad.mit.edu	37	6	41738604	41738604	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:41738604G>T	ENST00000373018.3	-	7	1483	c.1232C>A	c.(1231-1233)cCc>cAc	p.P411H	FRS3_ENST00000259748.2_Missense_Mutation_p.P411H	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	411					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGCCTTGGGGGCTCGGGCCC	0.687000													9	30					7.48243e-07	8.1035e-07	1	1	0
OSM	5008	broad.mit.edu	37	22	30659990	30659990	+	Missense_Mutation	SNP	T	T	C	rs150499755		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr22:30659990T>C	ENST00000215781.2	-	3	681	c.641A>G	c.(640-642)gAg>gGg	p.E214G	OSM_ENST00000403389.1_Missense_Mutation_p.E193G	NM_020530.4	NP_065391.1	P13725	ONCM_HUMAN	oncostatin M	214					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			GTTCGGGCTCTCCCCCCACTT	0.642000													4	66					0	0	1	0	0
SLC25A47	283600	broad.mit.edu	37	14	100795895	100795895	+	Silent	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr14:100795895C>G	ENST00000361529.3	+	6	918	c.840C>G	c.(838-840)ctC>ctG	p.L280L	SLC25A47_ENST00000557052.1_Silent_p.L134L	NM_207117.2	NP_997000.2	Q6Q0C1	S2547_HUMAN	solute carrier family 25, member 47	280					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	13						GGCTGGTACTCAATTGCTGCC	0.647000													27	83					0	0	1	0	0
IGKV3-11	28914	broad.mit.edu	37	2	89326712	89326712	+	RNA	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:89326712C>T	ENST00000483158.1	-	0	347																											GCAAAATCTTCAGGCTCTAGG	0.502000													25	107					0	0	1	0	0
TIAM1	7074	broad.mit.edu	37	21	32617837	32617837	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr21:32617837G>A	ENST00000286827.3	-	7	2022	c.1551C>T	c.(1549-1551)ctC>ctT	p.L517L	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Silent_p.L517L	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	517	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GGGAATTGCTGAGGCAGAAGA	0.522000													11	32					0	0	1	0	0
SEMA5B	54437	broad.mit.edu	37	3	122667459	122667459	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:122667459G>A	ENST00000195173.4	-	3	525	c.222C>T	c.(220-222)ctC>ctT	p.L74L	SEMA5B_ENST00000357599.3_Silent_p.L74L|SEMA5B_ENST00000465147.1_5'UTR|SEMA5B_ENST00000451055.2_Silent_p.L128L			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	74					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CCAGCAGTGTGAGGCTGGGCA	0.647000													10	29					0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36959492	36959492	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:36959492G>A	ENST00000262865.4	+	12	1373	c.1284G>A	c.(1282-1284)ccG>ccA	p.P428P	BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	428					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GCCCCTTCCCGGTGAGTCTGA	0.572000													9	95					0	0	1	0	0
MYH7B	57644	broad.mit.edu	37	20	33586326	33586326	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:33586326G>C	ENST00000262873.7	+	32	4105	c.4013G>C	c.(4012-4014)cGc>cCc	p.R1338P		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1296						membrane|myosin filament	actin binding|ATP binding|motor activity	p.R1338H(1)		NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GAGCTGAGTCGCCTGCTAGAG	0.642000													4	43					0	0	1	0	0
KLF11	8462	broad.mit.edu	37	2	10192502	10192502	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:10192502G>A	ENST00000535335.1	+	4	1572	c.1356G>A	c.(1354-1356)ctG>ctA	p.L452L	KLF11_ENST00000540845.1_Silent_p.L452L|KLF11_ENST00000305883.1_Silent_p.L469L	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	469					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GTGACCACCTGACGAAGCATG	0.602000													8	60					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133257231	133257231	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:133257231C>G	ENST00000320574.5	-	3	290	c.247G>C	c.(247-249)Gat>Cat	p.D83H	POLE_ENST00000535270.1_Intron	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	83					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AAGTAGTAATCCACTGCACTG	0.428000								DNA polymerases (catalytic subunits)					15	64					0	0	1	0	0
FRZB	2487	broad.mit.edu	37	2	183703267	183703267	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:183703267G>C	ENST00000295113.4	-	4	1276	c.667C>G	c.(667-669)Cta>Gta	p.L223V		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	223	NTR.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GAGGACTTTAGAATCTCCTTC	0.433000													21	99					0	0	1	0	0
TSEN54	283989	broad.mit.edu	37	17	73512921	73512921	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:73512921C>T	ENST00000333213.6	+	2	187	c.151C>T	c.(151-153)Cag>Tag	p.Q51*	TSEN54_ENST00000580013.1_3'UTR	NM_207346.2	NP_997229.2	Q7Z6J9	SEN54_HUMAN	TSEN54 tRNA splicing endonuclease subunit	51					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)	13	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCGGCAGCTCAGGCCGAGCG	0.736000													3	15					0	0	1	0	0
GUCA1A	2978	broad.mit.edu	37	6	42146620	42146620	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:42146620C>T	ENST00000394237.1	+	5	1408	c.432C>T	c.(430-432)gaC>gaT	p.D144D	GUCA1A_ENST00000541991.1_Silent_p.D144D|GUCA1A_ENST00000053469.4_Silent_p.D144D|GUCA1A_ENST00000372958.1_Silent_p.D144D			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	144	EF-hand 4.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCAAGATTGACGTCAACGGGG	0.607000													32	143					0	0	1	0	0
DIP2C	22982	broad.mit.edu	37	10	468809	468809	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:468809C>T	ENST00000280886.6	-	5	646	c.559G>A	c.(559-561)Ggg>Agg	p.G187R	DIP2C_ENST00000381496.3_Missense_Mutation_p.G80R	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	187						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGGGCAGCCCCGCTGCCCCCG	0.617000													10	61					0	0	1	0	0
GAD1	2571	broad.mit.edu	37	2	171710417	171710417	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:171710417G>C	ENST00000358196.3	+	14	1848	c.1298G>C	c.(1297-1299)gGa>gCa	p.G433A		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	433					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	ATGTGTGCAGGATACCTCTTC	0.483000													6	120					0	0	1	0	0
HSPB2	3316	broad.mit.edu	37	11	111784264	111784264	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:111784264C>A	ENST00000304298.3	+	2	782	c.194C>A	c.(193-195)tCc>tAc	p.S65Y	CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000527950.1_Intron|HSPB2_ENST00000537382.1_Missense_Mutation_p.S65Y|HSPB2-C11orf52_ENST00000534100.1_Intron	NM_001541.3	NP_001532.1	Q16082	HSPB2_HUMAN	heat shock 27kDa protein 2	65					response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GCAGGGGCCTCCGAGCTTAGG	0.622000													7	106					0.000157383	0.000165222	1	1	0
P4HA1	5033	broad.mit.edu	37	10	74803686	74803686	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:74803686C>T	ENST00000263556.3	-	9	1347	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E	P4HA1_ENST00000394890.2_Intron|P4HA1_ENST00000412021.2_Intron|P4HA1_ENST00000440381.1_Silent_p.E369E|P4HA1_ENST00000373008.2_Silent_p.E369E|P4HA1_ENST00000307116.2_Intron	NM_000917.3	NP_000908.2	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	369						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATTTTCCAGTCTCAGGGTCAT	0.408000													27	225					0	0	1	0	0
MYO1E	4643	broad.mit.edu	37	15	59500904	59500904	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr15:59500904G>A	ENST00000288235.4	-	14	1905	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	502	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GATGAATGATGAAGCCTTGGT	0.453000													8	150					0	0	1	0	0
WAPAL	23063	broad.mit.edu	37	10	88206121	88206121	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:88206121T>C	ENST00000298767.5	-	16	3672	c.3200A>G	c.(3199-3201)gAt>gGt	p.D1067G	WAPAL_ENST00000372075.1_Missense_Mutation_p.D279G|WAPAL_ENST00000263070.7_Missense_Mutation_p.D279G	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	1067	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TCCACTCTTATCATGCTGAGT	0.438000													9	90					0	0	1	0	0
SETD5	55209	broad.mit.edu	37	3	9482170	9482170	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:9482170G>A	ENST00000402466.1	+	9	1072	c.304G>A	c.(304-306)Gag>Aag	p.E102K	SETD5_ENST00000302463.6_Missense_Mutation_p.E102K|SETD5_ENST00000406341.1_Missense_Mutation_p.E200K|SETD5_ENST00000407969.1_Missense_Mutation_p.E219K|SETD5_ENST00000402198.1_Missense_Mutation_p.E200K			Q9C0A6	SETD5_HUMAN	SET domain containing 5	200								p.E200K(1)|p.E102K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GAATTTAGATGAGAATACAAC	0.433000													7	18					0	0	1	0	0
ELMO1	9844	broad.mit.edu	37	7	37252967	37252967	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr7:37252967C>T	ENST00000310758.4	-	12	1574	c.927G>A	c.(925-927)atG>atA	p.M309I	ELMO1_ENST00000448602.1_Missense_Mutation_p.M309I|ELMO1_ENST00000442504.1_Missense_Mutation_p.M309I	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	309					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TTTTGGTCATCATCCTGTCTT	0.498000													11	71					0	0	1	0	0
GRHL1	29841	broad.mit.edu	37	2	10136044	10136044	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:10136044G>A	ENST00000324907.9	+	13	1673	c.1537G>A	c.(1537-1539)Gac>Aac	p.D513N	GRHL1_ENST00000324883.5_Missense_Mutation_p.D324N|GRHL1_ENST00000480736.1_5'UTR|GRHL1_ENST00000405379.2_Missense_Mutation_p.D513N	NM_198182.2	NP_937825.2	Q9NZI5	GRHL1_HUMAN	grainyhead-like 1 (Drosophila)	513					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CACAGAAGATGACTTTGCTGT	0.458000													30	202					0	0	1	0	0
SPTBN1	6711	broad.mit.edu	37	2	54876994	54876994	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:54876994G>A	ENST00000333896.5	+	25	5791	c.5406G>A	c.(5404-5406)aaG>aaA	p.K1802K	SPTBN1_ENST00000356805.4_Silent_p.K1815K	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1815	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACGATGCCAAGGAGATCTTTG	0.493000													11	51					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5790413	5790413	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:5790413G>A	ENST00000328090.5	+	15	5654	c.5029G>A	c.(5029-5031)Gag>Aag	p.E1677K		NM_017782.4	NP_060252	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1677																	AATAAATGCAGAGCCAGTGTT	0.453000													9	51					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92616261	92616261	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:92616261C>T	ENST00000298047.6	+	23	12656	c.12639C>T	c.(12637-12639)cgC>cgT	p.R4213R	FAT3_ENST00000525166.1_Silent_p.R4063R|FAT3_ENST00000533797.1_Silent_p.R548R|FAT3_ENST00000409404.2_Silent_p.R4213R			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4213					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GGAACCTGCGCGGCAGTGGGG	0.657000										TCGA Ovarian(4;0.039)			15	72					0	0	1	0	0
SIM1	6492	broad.mit.edu	37	6	100911253	100911253	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:100911253G>A	ENST00000369208.3	-	2	874	c.92C>T	c.(91-93)tCg>tTg	p.S31L	SIM1_ENST00000262901.4_Missense_Mutation_p.S31L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	31	Helix-loop-helix motif.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.S31L(1)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGTGATAGCCGAGGGCAAAGG	0.458000													16	80					0	0	1	0	0
MYOM3	127294	broad.mit.edu	37	1	24388577	24388577	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:24388577C>T	ENST00000330966.7	-	33	3964	c.3802G>A	c.(3802-3804)Gat>Aat	p.D1268N	MYOM3_ENST00000374434.3_Missense_Mutation_p.D1265N|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.D158N			Q5VTT5	MYOM3_HUMAN	myomesin 3	1265										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTTATCCGATCACCACTCTCC	0.527000													19	147					0	0	1	0	0
ZNF781	163115	broad.mit.edu	37	19	38160986	38160986	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:38160986G>C	ENST00000358582.4	-	4	812	c.64C>G	c.(64-66)Caa>Gaa	p.Q22E	ZFP30_ENST00000586732.1_Intron|ZNF781_ENST00000590008.1_Missense_Mutation_p.Q22E	NM_152605.3	NP_689818.2	Q8N8C0	ZN781_HUMAN	zinc finger protein 781	22					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						ATTTGATATTGAGTTAGTTGA	0.343000													17	123					0	0	1	0	0
AMZ2P1	201283	broad.mit.edu	37	17	62968690	62968690	+	RNA	SNP	A	A	G	rs138671696	by1000genomes	TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:62968690A>G	ENST00000430983.1	-	0	1554					NR_026903.1																						AAAATTCCACAAGTCTCTTGG	0.373000													3	122					0	0	1	0	0
PLB1	151056	broad.mit.edu	37	2	28801013	28801013	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:28801013G>A	ENST00000422425.2	+	22	1550	c.1506G>A	c.(1504-1506)atG>atA	p.M502I	PLB1_ENST00000329020.6_Missense_Mutation_p.M179I|PLB1_ENST00000327757.5_Missense_Mutation_p.M491I	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	491	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGGACCTGATGAAGAATGACA	0.582000													4	58					0	0	1	0	0
SIGIRR	59307	broad.mit.edu	37	11	408082	408082	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:408082G>A	ENST00000431843.2	-	4	637	c.331C>T	c.(331-333)Cag>Tag	p.Q111*	SIGIRR_ENST00000332725.3_Nonsense_Mutation_p.Q111*|SIGIRR_ENST00000529486.1_5'UTR|SIGIRR_ENST00000382520.2_Nonsense_Mutation_p.Q111*|SIGIRR_ENST00000397632.3_Nonsense_Mutation_p.Q111*|SIGIRR_ENST00000531205.1_Nonsense_Mutation_p.Q111*	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	111					acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGCTCTCTGAAGAGTGAAG	0.592000													18	69					0	0	1	0	0
ZNF75A	7627	broad.mit.edu	37	16	3367786	3367786	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:3367786G>C	ENST00000574298.1	+	6	1281	c.808G>C	c.(808-810)Gag>Cag	p.E270Q	ZNF75A_ENST00000498240.2_3'UTR	NM_153028.2	NP_694573.1	Q96N20	ZN75A_HUMAN	zinc finger protein 75a	270					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(7)|prostate(1)	12						CCACACAGGTGAGCAGCCATA	0.453000													17	70					0	0	1	0	0
AMIGO3	386724	broad.mit.edu	37	3	49756493	49756493	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:49756493C>T	ENST00000535833.1	-	10	3856	c.406G>A	c.(406-408)Gag>Aag	p.E136K	RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.E136K|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000497099.1_Intron|RNF123_ENST00000433785.1_Intron			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	136					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGCAGCTTCTCCAGCGCCCCC	0.632000											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	85					0	0	1	0	0
FNDC1	84624	broad.mit.edu	37	6	159654497	159654497	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:159654497C>T	ENST00000297267.9	+	11	3153	c.2953C>T	c.(2953-2955)Cgg>Tgg	p.R985W	FNDC1_ENST00000340366.6_Missense_Mutation_p.R922W	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	985						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCGCAGCACGGTCACAGCA	0.677000													3	14					0	0	1	0	0
FAT4	79633	broad.mit.edu	37	4	126237764	126237764	+	Silent	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr4:126237764G>C	ENST00000394329.3	+	1	211	c.198G>C	c.(196-198)acG>acC	p.T66T		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	66	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCATCCAGACGCGCCCCGGCT	0.647000											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	30					0	0	1	0	0
IL20RA	53832	broad.mit.edu	37	6	137330458	137330458	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:137330458C>T	ENST00000367748.1	-	3	828	c.242G>A	c.(241-243)aGa>aAa	p.R81K	IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000541547.1_Missense_Mutation_p.R143K|IL20RA_ENST00000367746.3_Missense_Mutation_p.R192K|IL20RA_ENST00000316649.5_Missense_Mutation_p.R192K	NM_001278723.1	NP_001265652.1	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	192	Fibronectin type-III 1.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		GCTTACCGTTCTGTTTGATTT	0.403000													14	91					0	0	1	0	0
VPS13A	23230	broad.mit.edu	37	9	79959136	79959136	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:79959136C>T	ENST00000360280.3	+	51	7354	c.7094C>T	c.(7093-7095)cCt>cTt	p.P2365L	VPS13A_ENST00000376634.4_Missense_Mutation_p.P2365L|VPS13A_ENST00000376636.3_Missense_Mutation_p.P2326L|VPS13A_ENST00000357409.5_Missense_Mutation_p.P2365L	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2365					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGTGAAGATCCTCCCAAAAGG	0.303000													15	57					0	0	1	0	0
TRPM5	29850	broad.mit.edu	37	11	2428020	2428020	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:2428020C>T	ENST00000452833.1	-	21	3136	c.3128G>A	c.(3127-3129)aGa>aAa	p.R1043K	TRPM5_ENST00000533060.1_Missense_Mutation_p.R1041K|TRPM5_ENST00000528453.1_Missense_Mutation_p.R1041K|TRPM5_ENST00000155858.6_Missense_Mutation_p.R1041K|AC124057.5_ENST00000433035.1_RNA			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	1041						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGGCAGGTCTCTCTCTGGGAA	0.632000													6	44					0	0	1	0	0
ELAVL4	1996	broad.mit.edu	37	1	50642770	50642770	+	Nonsense_Mutation	SNP	T	T	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:50642770T>G	ENST00000371824.1	+	3	517	c.260T>G	c.(259-261)tTa>tGa	p.L87*	ELAVL4_ENST00000448907.2_Nonsense_Mutation_p.L90*|ELAVL4_ENST00000371827.1_Nonsense_Mutation_p.L87*|ELAVL4_ENST00000371823.4_Nonsense_Mutation_p.L87*|ELAVL4_ENST00000371819.1_Nonsense_Mutation_p.L92*|ELAVL4_ENST00000371821.1_Nonsense_Mutation_p.L92*|ELAVL4_ENST00000357083.4_Nonsense_Mutation_p.L104*|ELAVL4_ENST00000492299.1_3'UTR			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	87	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						GGACAGAGTTTAGGGTATGGA	0.393000													5	29					0	0	1	0	0
ITGAM	3684	broad.mit.edu	37	16	31341460	31341460	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:31341460C>A	ENST00000544665.3	+	26	3109	c.3038C>A	c.(3037-3039)gCt>gAt	p.A1013D	ITGAM_ENST00000287497.8_Missense_Mutation_p.A1012D	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	1012					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GACTTTCTGGCTGAGCTTCGG	0.597000													6	22					8.12818e-05	8.56586e-05	1	1	0
PCNT	5116	broad.mit.edu	37	21	47850003	47850003	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr21:47850003G>A	ENST00000359568.5	+	36	7877	c.7770G>A	c.(7768-7770)gaG>gaA	p.E2590E	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2590					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AAGAGCAAGAGAAGGCAAACA	0.512000													11	37					0	0	1	0	0
PLXND1	23129	broad.mit.edu	37	3	129290522	129290522	+	Silent	SNP	G	G	C	rs111780083		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:129290522G>C	ENST00000393239.1	-	16	3421	c.3243C>G	c.(3241-3243)gtC>gtG	p.V1081V	PLXND1_ENST00000324093.4_Silent_p.V1081V			Q9Y4D7	PLXD1_HUMAN	plexin D1	1081	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						AGTCTCACCTGACAGGGCTGC	0.657000													19	95					0	0	1	0	0
SLC26A8	116369	broad.mit.edu	37	6	35923092	35923092	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:35923092G>C	ENST00000490799.1	-	17	2422	c.2069C>G	c.(2068-2070)tCa>tGa	p.S690*	SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.S690*|SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.S585*	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	690	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GCTGTTTCTTGATGAGTTATT	0.512000													4	60					0	0	1	0	0
TAS2R1	50834	broad.mit.edu	37	5	9629539	9629539	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:9629539C>T	ENST00000382492.2	-	1	924	c.606G>A	c.(604-606)ggG>ggA	p.G202G	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	202					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						GGGTGTGCCTCCCCAGAGAGA	0.502000													10	31					0	0	1	0	0
SGOL2	151246	broad.mit.edu	37	2	201400832	201400832	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:201400832G>C	ENST00000357799.4	+	4	452	c.354G>C	c.(352-354)ttG>ttC	p.L118F	SGOL2_ENST00000409203.3_Missense_Mutation_p.L118F|SGOL2_ENST00000469840.1_3'UTR	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	118					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						ACAATAACTTGATAACTGCAA	0.294000													8	82					0	0	1	0	0
FOXR1	283150	broad.mit.edu	37	11	118851213	118851213	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:118851213T>C	ENST00000317011.3	+	5	850	c.625T>C	c.(625-627)Ttt>Ctt	p.F209L		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	209					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GCACTTCCCCTTTTTCCGGAC	0.562000													3	74					0	0	1	0	0
MFSD10	10227	broad.mit.edu	37	4	2934873	2934873	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr4:2934873G>C	ENST00000329687.4	-	3	866	c.332C>G	c.(331-333)tCt>tGt	p.S111C	MFSD10_ENST00000355443.4_Missense_Mutation_p.S111C|MFSD10_ENST00000508221.1_Missense_Mutation_p.S111C|MFSD10_ENST00000507555.1_Missense_Mutation_p.S111C|MFSD10_ENST00000514800.1_Missense_Mutation_p.S111C	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	111					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CAAGCAGTCAGAGGTGGCCCC	0.632000													5	28					0	0	1	0	0
UTP11L	51118	broad.mit.edu	37	1	38484964	38484964	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:38484964C>T	ENST00000373014.4	+	6	537	c.476C>T	c.(475-477)cCg>cTg	p.P159L	UTP11L_ENST00000537711.1_Intron|UTP11L_ENST00000488453.1_3'UTR	NM_016037.3	NP_057121.2	Q9Y3A2	UTP11_HUMAN	UTP11-like, U3 small nucleolar ribonucleoprotein, (yeast)	159					induction of apoptosis|nerve growth factor receptor signaling pathway|nervous system development|rRNA processing	cytoplasm|extracellular space|nucleolus|small-subunit processome	protein binding			NS(1)|cervix(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CAAACAGCCCCGGAGCTAGTC	0.433000													25	115					0	0	1	0	0
MAST4	375449	broad.mit.edu	37	5	66259613	66259613	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:66259613G>C	ENST00000405643.1	+	2	504	c.126G>C	c.(124-126)tgG>tgC	p.W42C	MAST4_ENST00000404260.3_Intron|MAST4_ENST00000490016.2_Intron|MAST4_ENST00000407621.1_Missense_Mutation_p.W42C|MAST4_ENST00000403666.1_Intron|MAST4_ENST00000406374.1_Intron|MAST4_ENST00000403625.2_Intron|MAST4_ENST00000406039.1_Intron			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1308						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TTCACTTTTGGAGGTAAGCAT	0.512000													21	61					0	0	1	0	0
NELFE	7936	broad.mit.edu	37	6	31922614	31922614	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:31922614C>G	ENST00000375429.3	-	7	686	c.460G>C	c.(460-462)Gag>Cag	p.E154Q	NELFE_ENST00000444811.2_Intron|NELFE_ENST00000375425.5_Missense_Mutation_p.E161Q	NM_002904.5	NP_002895.3			negative elongation factor complex member E																		CCTGGGCCCTCTGCCTCTTCT	0.577000													22	133					0	0	1	0	0
CLUH	23277	broad.mit.edu	37	17	2603983	2603983	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:2603983T>C	ENST00000570628.2	-	8	1153	c.1048A>G	c.(1048-1050)Att>Gtt	p.I350V	CLUH_ENST00000538975.1_Missense_Mutation_p.I350V|CLUH_ENST00000435359.1_Missense_Mutation_p.I350V					clustered mitochondria (cluA/CLU1) homolog																		TGTCCAGGAATGTGCTCCTCA	0.662000													4	35					0	0	1	0	0
CMSS1	84319	broad.mit.edu	37	3	99881261	99881261	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:99881261G>A	ENST00000421999.2	+	4	486	c.340G>A	c.(340-342)Gaa>Aaa	p.E114K	CMSS1_ENST00000489081.1_Missense_Mutation_p.E96K	NM_032359.3	NP_115735.2			cms1 ribosomal small subunit homolog (yeast)																		TGAATTAGAAGAACTGAACCT	0.408000													7	30					0	0	1	0	0
APC	324	broad.mit.edu	37	5	112176224	112176224	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:112176224G>C	ENST00000457016.1	+	16	5313	c.4933G>C	c.(4933-4935)Gaa>Caa	p.E1645Q	APC_ENST00000508376.2_Missense_Mutation_p.E1645Q|APC_ENST00000257430.4_Missense_Mutation_p.E1645Q|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1645	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.E1645Q(1)|p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GTATTGTGTTGAAGGGACACC	0.453000		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			3	73					0	0	1	0	0
ORMDL1	94101	broad.mit.edu	37	2	190640311	190640311	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:190640311G>A	ENST00000325795.3	-	2	1092	c.306C>T	c.(304-306)ttC>ttT	p.F102F	ORMDL1_ENST00000392350.3_Silent_p.F102F|ORMDL1_ENST00000392349.4_Silent_p.F102F|ORMDL1_ENST00000409519.1_Silent_p.F102F			Q9P0S3	ORML1_HUMAN	ORM1-like 1 (S. cerevisiae)	102					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane				breast(1)|urinary_tract(1)	2			OV - Ovarian serous cystadenocarcinoma(117;0.00177)|Epithelial(96;0.0317)|all cancers(119;0.0889)			GAGAAATTGTGAAAAACTTCC	0.383000													4	34					0	0	1	0	0
WDTC1	23038	broad.mit.edu	37	1	27623588	27623588	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:27623588C>T	ENST00000319394.3	+	11	1534	c.999C>T	c.(997-999)tcC>tcT	p.S333S	WDTC1_ENST00000361771.3_Silent_p.S332S	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	333							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		acggtgtgtccaaTGGCCTGC	0.562000											OREG0013279	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	7	21					0	0	1	0	0
DSG1	1828	broad.mit.edu	37	18	28908201	28908201	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr18:28908201G>C	ENST00000257192.4	+	4	478	c.266G>C	c.(265-267)gGa>gCa	p.G89A		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	89	Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CGCATCTCTGGAGTAGGAATT	0.388000													15	65					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179575377	179575377	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:179575377G>A	ENST00000589042.1	-	98	28671	c.28447C>T	c.(28447-28449)Cag>Tag	p.Q9483*	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q9166*|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q8239*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9166							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATTCAGCTGAGCTGTGCAA	0.398000													10	110					0	0	1	0	0
NT5DC1	221294	broad.mit.edu	37	6	116436852	116436852	+	Splice_Site	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:116436852A>G	ENST00000319550.4	+	5	446		c.e5-1			NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1								hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		GTTCTTTTTTAGGAAAGTATT	0.368000													8	20					0	0	1	0	0
SPIRE2	84501	broad.mit.edu	37	16	89925754	89925754	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:89925754G>C	ENST00000378247.3	+	9	1497	c.1454G>C	c.(1453-1455)cGa>cCa	p.R485P	SPIRE2_ENST00000393062.2_Missense_Mutation_p.R485P	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	485					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		CCCGGCTCCCGAGACCAGGGC	0.697000													2	14					0	0	1	0	0
TBC1D20	128637	broad.mit.edu	37	20	422526	422526	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:422526C>A	ENST00000354200.4	-	4	646	c.499G>T	c.(499-501)Gaa>Taa	p.E167*	TBC1D20_ENST00000461188.1_5'UTR	NM_144628.2	NP_653229.1	Q96BZ9	TBC20_HUMAN	TBC1 domain family, member 20	167	Rab-GAP TBC.				interspecies interaction between organisms	integral to membrane|intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(17;0.228)|Breast(17;0.231)				GATAATTTTTCTACCAGGGAT	0.537000													6	92					1.33987e-11	1.50461e-11	1	1	0
ADAM21P1	145241	broad.mit.edu	37	14	70714135	70714135	+	RNA	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr14:70714135G>C	ENST00000530196.1	-	0	383					NR_003951.1																						TAGAAACCAAGAGCTTCTTAA	0.498000													3	61					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049523	36049523	+	Splice_Site	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:36049523C>T	ENST00000282507.3	-	4	413		c.e4-1		UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Splice_Site|UGT3A2_ENST00000545528.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2							integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAATTTTCCTCTGTAAGAAAA	0.284000													5	22					0	0	1	0	0
NOS1	4842	broad.mit.edu	37	12	117698400	117698400	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:117698400G>C	ENST00000317775.6	-	14	2922	c.2237C>G	c.(2236-2238)tCg>tGg	p.S746W	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.S746W	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	746	Calmodulin-binding (Potential).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CAGCTTGGCCGAGAACTTGAC	0.522000													4	31					0	0	1	0	0
SF3B3	23450	broad.mit.edu	37	16	70562947	70562947	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:70562947G>A	ENST00000302516.5	+	3	453	c.242G>A	c.(241-243)gGc>gAc	p.G81D		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	81					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				ATTGTAGTTGGCAGTGACTCT	0.458000													12	79					0	0	1	0	0
PCDHA2	56146	broad.mit.edu	37	5	140175188	140175188	+	Silent	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:140175188G>T	ENST00000526136.1	+	1	639	c.639G>T	c.(637-639)gtG>gtT	p.V213V	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Silent_p.V213V|PCDHA2_ENST00000378132.1_Silent_p.V213V	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTACTGGTGGCTACTGATG	0.428000													23	66					7.92952e-12	8.94111e-12	1	1	0
PGM1	5236	broad.mit.edu	37	1	64095755	64095755	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:64095755C>T	ENST00000371083.4	+	3	974	c.606C>T	c.(604-606)ttC>ttT	p.F202F	PGM1_ENST00000371084.3_Silent_p.F184F|PGM1_ENST00000540265.1_5'UTR	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	184					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TCAAACCCTTCACAGGCATGT	0.428000													7	83					0	0	1	0	0
MCM3AP	8888	broad.mit.edu	37	21	47690422	47690422	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr21:47690422C>A	ENST00000397708.1	-	10	2775	c.2521G>T	c.(2521-2523)Gtt>Ttt	p.V841F	MCM3AP_ENST00000291688.1_Missense_Mutation_p.V841F			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	841					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AAAGCCTGAACAGCAAATTTC	0.363000													3	68					0.115264	0.116972	1	1	0
ARID4A	5926	broad.mit.edu	37	14	58831244	58831244	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr14:58831244G>T	ENST00000355431.3	+	20	2810	c.2437G>T	c.(2437-2439)Ggc>Tgc	p.G813C	ARID4A_ENST00000348476.3_Missense_Mutation_p.G813C|ARID4A_ENST00000395168.3_Missense_Mutation_p.G813C|ARID4A_ENST00000431317.2_Missense_Mutation_p.G813C	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	813					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTCATCATTTGGCCAGAATGA	0.333000													8	22					2.74318e-10	3.05541e-10	1	1	0
NELFE	7936	broad.mit.edu	37	6	31922347	31922347	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:31922347C>G	ENST00000375429.3	-	7	953	c.727G>C	c.(727-729)Gag>Cag	p.E243Q	NELFE_ENST00000444811.2_Missense_Mutation_p.E213Q|NELFE_ENST00000375425.5_Missense_Mutation_p.E250Q	NM_002904.5	NP_002895.3			negative elongation factor complex member E																		AAAGGACCCtctcggtctcgg	0.562000													10	50					0	0	1	0	0
SEC24A	10802	broad.mit.edu	37	5	134023941	134023941	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:134023941C>T	ENST00000398844.2	+	11	1963	c.1675C>T	c.(1675-1677)Cag>Tag	p.Q559*	SEC24A_ENST00000322887.4_Nonsense_Mutation_p.Q559*	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	559					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTACGGTCTTCAGGAAAGTCT	0.313000													13	41					0	0	1	0	0
EEA1	8411	broad.mit.edu	37	12	93247696	93247696	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:93247696G>A	ENST00000322349.8	-	6	665	c.401C>T	c.(400-402)tCa>tTa	p.S134L		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	134					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GTTACCTGCTGATGAATCAGT	0.308000													8	28					0	0	1	0	0
AHNAK	79026	broad.mit.edu	37	11	62296070	62296070	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:62296070A>G	ENST00000378024.4	-	5	6093	c.5819T>C	c.(5818-5820)gTg>gCg	p.V1940A	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1940					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CGACACATCCACATCCCCTTT	0.502000													5	259					0	0	1	0	0
PCDH15	65217	broad.mit.edu	37	10	55587219	55587219	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:55587219G>A	ENST00000373965.2	-	33	4716	c.4322C>T	c.(4321-4323)gCg>gTg	p.A1441V	PCDH15_ENST00000395433.1_Missense_Mutation_p.A1409V|PCDH15_ENST00000320301.6_Missense_Mutation_p.A1434V|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1434V|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1436V|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1363V|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1441V|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1434V|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1431V|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1394V|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.A1045V|PCDH15_ENST00000395446.1_Intron	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1434	Poly-Pro.				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)				cggcgggggcgCTGCCACTGG	0.577000										HNSCC(58;0.16)			10	59					0	0	1	0	0
RALGAPB	57148	broad.mit.edu	37	20	37182716	37182716	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:37182716G>A	ENST00000262879.6	+	22	3653	c.3369G>A	c.(3367-3369)ctG>ctA	p.L1123L	RALGAPB_ENST00000397042.3_Silent_p.L1119L|RALGAPB_ENST00000397040.1_Silent_p.L1123L|RALGAPB_ENST00000397038.1_Silent_p.L901L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1123					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TAGAAGCACTGAAGGTAATTT	0.383000													25	69					0	0	1	0	0
TTLL9	164395	broad.mit.edu	37	20	30525290	30525290	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:30525290C>A	ENST00000375938.4	+	13	1349	c.1096C>A	c.(1096-1098)Cat>Aat	p.H366N	TTLL9_ENST00000535842.1_Missense_Mutation_p.H366N|TTLL9_ENST00000375934.4_3'UTR|TTLL9_ENST00000375922.4_Missense_Mutation_p.H308N|TTLL9_ENST00000375921.2_3'UTR|TTLL9_ENST00000310998.4_Missense_Mutation_p.H331N			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	366	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			AGACACCCTGCATGTTGTGGA	0.572000													11	40					5.50884e-06	5.9193e-06	1	1	0
PHACTR4	65979	broad.mit.edu	37	1	28819542	28819542	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:28819542G>T	ENST00000373839.3	+	13	2293	c.2032G>T	c.(2032-2034)Gaa>Taa	p.E678*	PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Nonsense_Mutation_p.E688*	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	678							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CATAAGAAAAGAATTAAATGA	0.388000													4	77					0.150653	0.152321	1	1	0
NTHL1	4913	broad.mit.edu	37	16	2094652	2094652	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:2094652G>C	ENST00000219066.1	-	3	546	c.528C>G	c.(526-528)atC>atG	p.I176M		NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN	nth endonuclease III-like 1 (E. coli)	176			I -> T (in dbSNP:rs1805378).		depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CGACGGGGTAGATGAGCTTGC	0.682000								Base excision repair (BER), DNA glycosylases					5	70					0	0	1	0	0
TTYH2	94015	broad.mit.edu	37	17	72233573	72233573	+	Silent	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:72233573C>G	ENST00000269346.4	+	4	629	c.555C>G	c.(553-555)ctC>ctG	p.L185L	TTYH2_ENST00000529107.1_Silent_p.L164L	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	185						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TTGTTCAGCTCTCAGGACTGC	0.602000													6	83					0	0	1	0	0
ATP11A	23250	broad.mit.edu	37	13	113532571	113532571	+	Missense_Mutation	SNP	T	T	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr13:113532571T>A	ENST00000487903.1	+	29	3456	c.3368T>A	c.(3367-3369)tTt>tAt	p.F1123Y	ATP11A_ENST00000283558.8_Missense_Mutation_p.F1123Y|ATP11A_ENST00000375630.2_Intron|ATP11A_ENST00000375645.3_Missense_Mutation_p.F1123Y			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	1123					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TCAACCATCTTTATGCTTTCT	0.547000													4	80					0	0	1	0	0
ATF6	22926	broad.mit.edu	37	1	161823073	161823073	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:161823073G>A	ENST00000367942.3	+	12	1560	c.1493G>A	c.(1492-1494)aGa>aAa	p.R498K	ATF6_ENST00000476437.1_3'UTR	NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	498					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			ACCAAGTCAAGAAGAATGACA	0.328000													3	32					0	0	1	0	0
SURF1	6834	broad.mit.edu	37	9	136220672	136220672	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:136220672G>A	ENST00000371974.3	-	5	478	c.447C>T	c.(445-447)ggC>ggT	p.G149G	SURF1_ENST00000495952.1_5'UTR	NM_001280787.1|NM_003172.2	NP_001267716.1|NP_003163.1	Q15526	SURF1_HUMAN	surfeit 1	149					aerobic respiration|respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			breast(2)|endometrium(1)|ovary(2)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05)		AGATGAGGCCGCCCTCCCGGG	0.612000													4	159					0	0	1	0	0
CUL9	23113	broad.mit.edu	37	6	43181255	43181255	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:43181255C>T	ENST00000252050.4	+	28	5522	c.5438C>T	c.(5437-5439)tCa>tTa	p.S1813L	CUL9_ENST00000502937.1_3'UTR|CUL9_ENST00000372647.2_Missense_Mutation_p.S1813L|CUL9_ENST00000354495.3_Missense_Mutation_p.S1703L	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1813					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						CCCCTCACCTCAGGGAATGGC	0.632000													12	65					0	0	1	0	0
CLUH	23277	broad.mit.edu	37	17	2601720	2601720	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:2601720G>A	ENST00000570628.2	-	10	1422	c.1317C>T	c.(1315-1317)ttC>ttT	p.F439F	CLUH_ENST00000538975.1_Silent_p.F439F|CLUH_ENST00000435359.1_Silent_p.F439F					clustered mitochondria (cluA/CLU1) homolog																		CGTCCCCCCCGAAGTCCTTGT	0.622000													11	17					0	0	1	0	0
DYNC2LI1	51626	broad.mit.edu	37	2	44036863	44036863	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:44036863G>C	ENST00000260605.8	+	13	1113	c.1013G>C	c.(1012-1014)aGa>aCa	p.R338T	DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.R212T|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.R339T	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	338						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAGTACAAAAGAAGTTCTTCC	0.284000													5	22					0	0	1	0	0
SF3B5	83443	broad.mit.edu	37	6	144416498	144416498	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:144416498T>C	ENST00000367569.2	-	1	256	c.137A>G	c.(136-138)cAc>cGc	p.H46R		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa	46					nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex				lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		AAGGTCGAAGTGGCCCATGTA	0.572000													20	68					0	0	1	0	0
ITGA2	3673	broad.mit.edu	37	5	52361774	52361774	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:52361774C>T	ENST00000296585.5	+	15	2053	c.1910C>T	c.(1909-1911)tCt>tTt	p.S637F		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	637					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ACCGATGTGTCTATTGGTGCC	0.458000													21	91					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113353910	113353910	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr8:113353910G>A	ENST00000297405.5	-	42	6692	c.6448C>T	c.(6448-6450)Cat>Tat	p.H2150Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.H2110Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.H2080Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.H2046Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2150	CUB 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AACTGGAGATGTACACCTGAA	0.343000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			5	19					0	0	1	0	0
MAPK13	5603	broad.mit.edu	37	6	36098379	36098379	+	Missense_Mutation	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:36098379A>G	ENST00000211287.4	+	1	282	c.20A>G	c.(19-21)aAg>aGg	p.K7R	MAPK13_ENST00000373766.5_Missense_Mutation_p.K7R|MAPK13_ENST00000373761.6_Missense_Mutation_p.K7R	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	7					cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						ATCCGGAAAAAGGGCTTCTAC	0.697000													2	10					0	0	1	0	0
ZNF521	25925	broad.mit.edu	37	18	22807156	22807156	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr18:22807156C>T	ENST00000361524.3	-	4	874	c.726G>A	c.(724-726)atG>atA	p.M242I	ZNF521_ENST00000584787.1_Missense_Mutation_p.M22I|ZNF521_ENST00000538137.2_Missense_Mutation_p.M242I	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	242					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GAGTGTCCTTCATCTTCCAGT	0.527000			T	PAX5	ALL								16	59					0	0	1	0	0
FOXF2	2295	broad.mit.edu	37	6	1390569	1390569	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:1390569C>A	ENST00000259806.1	+	1	501	c.387C>A	c.(385-387)ttC>ttA	p.F129L		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	129					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TCTACCAGTTCCTGCAGGCGC	0.632000													6	29					3.59834e-05	3.80673e-05	1	1	0
RALGAPB	57148	broad.mit.edu	37	20	37182516	37182516	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:37182516G>C	ENST00000262879.6	+	22	3453	c.3169G>C	c.(3169-3171)Gag>Cag	p.E1057Q	RALGAPB_ENST00000397042.3_Missense_Mutation_p.E1053Q|RALGAPB_ENST00000397040.1_Missense_Mutation_p.E1057Q|RALGAPB_ENST00000397038.1_Missense_Mutation_p.E835Q			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1057					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ACAGTTAGAAGAGAGACACGA	0.328000													7	20					0	0	1	0	0
RCOR2	283248	broad.mit.edu	37	11	63681907	63681907	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:63681907C>T	ENST00000301459.4	-	6	974	c.587G>A	c.(586-588)cGc>cAc	p.R196H		NM_173587.3	NP_775858.2	Q8IZ40	RCOR2_HUMAN	REST corepressor 2	196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	17						TTTGTCCTTGCGGCCCCCCAG	0.602000													4	97					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166848189	166848189	+	Missense_Mutation	SNP	C	C	A	rs121918815		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:166848189C>A	ENST00000423058.2	-	26	5613	c.5596G>T	c.(5596-5598)Gat>Tat	p.D1866Y	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.D1838Y|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.D1855Y|SCN1A_ENST00000303395.4_Missense_Mutation_p.D1866Y	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1866			D -> Y (in GEFS+2; causes a positive shift in the voltage dependence of sodium channel fast inactivation; causes an increase in the magnitude of the persistent current and a delay in the kinetics of inactivation; dbSNP:rs121918815).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AATAAGATATCAAGACAGTGG	0.483000													10	79					2.17888e-05	2.32301e-05	1	1	0
LDLR	3949	broad.mit.edu	37	19	11213402	11213402	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:11213402C>T	ENST00000558518.1	+	3	440	c.253C>T	c.(253-255)Cag>Tag	p.Q85*	LDLR_ENST00000455727.2_Nonsense_Mutation_p.Q85*|LDLR_ENST00000545707.1_Nonsense_Mutation_p.Q85*|LDLR_ENST00000535915.1_Intron|LDLR_ENST00000557933.1_Nonsense_Mutation_p.Q85*|LDLR_ENST00000558013.1_Nonsense_Mutation_p.Q85*	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	85	LDL-receptor class A 2.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CTGCATTCCTCAGTTCTGGAG	0.547000													27	125					0	0	1	0	0
CYP39A1	51302	broad.mit.edu	37	6	46607286	46607286	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:46607286C>A	ENST00000275016.2	-	3	636	c.433G>T	c.(433-435)Gaa>Taa	p.E145*		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	145					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TCCAGTTGTTCATGTAATTCT	0.363000													9	82					2.17888e-05	2.32301e-05	1	1	0
ABHD15	116236	broad.mit.edu	37	17	27889911	27889911	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:27889911C>T	ENST00000307201.4	-	2	1245	c.1075G>A	c.(1075-1077)Gac>Aac	p.D359N	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	359						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						ACGGGGTCGTCAGCACTGCAG	0.602000													9	69					0	0	1	0	0
GIGYF2	26058	broad.mit.edu	37	2	233655998	233655998	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:233655998C>A	ENST00000373566.3	+	13	1387	c.1190C>A	c.(1189-1191)tCa>tAa	p.S397*	GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.S375*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.S206*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.S375*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.S397*|GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.S396*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.S369*			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	375					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CAGACCTCATCATCATCTGCT	0.428000													14	62					0.00074312	0.000771269	1	1	0
ZNF660	285349	broad.mit.edu	37	3	44636265	44636265	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:44636265G>C	ENST00000322734.2	+	3	913	c.580G>C	c.(580-582)Gag>Cag	p.E194Q	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		CAAATGTAAGGAGTGTGGGAA	0.393000													14	56					0	0	1	0	0
MTMR3	8897	broad.mit.edu	37	22	30403279	30403279	+	Missense_Mutation	SNP	A	A	G	rs138787389	byFrequency	TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr22:30403279A>G	ENST00000333027.3	+	10	1176	c.848A>G	c.(847-849)aAt>aGt	p.N283S	MTMR3_ENST00000406629.1_Missense_Mutation_p.N283S|MTMR3_ENST00000351488.3_Missense_Mutation_p.N283S|MTMR3_ENST00000323630.5_Missense_Mutation_p.N147S|MTMR3_ENST00000401950.2_Missense_Mutation_p.N283S	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	283	Myotubularin phosphatase.				phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			GACTTTCCCAATGGGGGAGAC	0.493000													10	42					0	0	1	0	0
UGT1A1	54658	broad.mit.edu	37	2	234669201	234669201	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:234669201G>T	ENST00000360418.3	+	1	268	c.268G>T	c.(268-270)Gag>Tag	p.E90*	UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000609767.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A8_ENST00000305208.5_Nonsense_Mutation_p.E90*|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000608383.1_Nonsense_Mutation_p.E90*|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron			P22309	UD11_HUMAN		90					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GGATGTGAAAGAGTCTTTTGT	0.423000													11	158					4.3838e-07	4.76651e-07	1	1	0
PNLIP	5406	broad.mit.edu	37	10	118321149	118321149	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:118321149G>A	ENST00000369221.2	+	12	1362		c.e12+1			NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase						lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TTGGAAAACAGTAAGTAATGA	0.363000													19	70					0	0	1	0	0
MIR99AHG	388815	broad.mit.edu	37	21	17443531	17443531	+	RNA	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr21:17443531C>G	ENST00000458468.1	+	0	125					NR_027790.1																						GAGGGAGACTCTCTCTTAGGG	0.522000													30	78					0	0	1	0	0
TMEM104	54868	broad.mit.edu	37	17	72781647	72781647	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:72781647C>T	ENST00000335464.5	+	3	234	c.72C>T	c.(70-72)ctC>ctT	p.L24L	TMEM104_ENST00000582773.1_Silent_p.L24L|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Silent_p.L24L	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	24						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TGTTTAACCTCATCGTGGGCA	0.572000													21	195					0	0	1	0	0
PHF20L1	51105	broad.mit.edu	37	8	133851656	133851656	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr8:133851656G>A	ENST00000395386.2	+	18	2515	c.2216G>A	c.(2215-2217)cGt>cAt	p.R739H	AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.R126H|AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000395390.2_Missense_Mutation_p.R714H	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	739							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			GCAAAATATCGTTATGATAAG	0.368000													20	113					0	0	1	0	0
DYNC2LI1	51626	broad.mit.edu	37	2	44036898	44036898	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:44036898G>C	ENST00000260605.8	+	13	1148	c.1048G>C	c.(1048-1050)Gat>Cat	p.D350H	DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.D224H|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.D351H	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	350						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AATCGAGCTTGATTCTTGAAC	0.269000													3	13					0	0	1	0	0
OR14J1	442191	broad.mit.edu	37	6	29274561	29274561	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:29274561C>T	ENST00000377160.2	+	1	159	c.95C>T	c.(94-96)aCa>aTa	p.T32I		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TTTCTGGTGACATACCTGCTG	0.438000													12	71					0	0	1	0	0
PAN3	255967	broad.mit.edu	37	13	28834599	28834599	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr13:28834599C>T	ENST00000399613.1	+	7	727	c.664C>T	c.(664-666)Cat>Tat	p.H222Y	PAN3_ENST00000282391.5_Missense_Mutation_p.H110Y|PAN3_ENST00000380958.3_Missense_Mutation_p.H422Y			Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	422	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TCCAAACTATCATATTTATCC	0.428000													24	56					0	0	1	0	0
TAPBP	6892	broad.mit.edu	37	6	33271748	33271748	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:33271748C>T	ENST00000434618.2	-	7	1664	c.1319G>A	c.(1318-1320)tGc>tAc	p.C440Y	TAPBP_ENST00000489157.1_Missense_Mutation_p.C353Y|TAPBP_ENST00000456592.2_Missense_Mutation_p.C440Y|TAPBP_ENST00000426633.2_Missense_Mutation_p.C440Y|TAPBP_ENST00000475304.1_Missense_Mutation_p.C458Y	NM_003190.4|NM_172209.2	NP_003181.3|NP_757346.2	O15533	TPSN_HUMAN	TAP binding protein (tapasin)	440					antigen processing and presentation of endogenous peptide antigen via MHC class I|immune response|peptide antigen stabilization|protein complex assembly|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|MHC class I peptide loading complex|microsome	MHC class I protein binding|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|unfolded protein binding			endometrium(2)|large_intestine(5)|lung(8)|ovary(3)	18						TGAATCCTTGCAGGTGGACAG	0.532000													14	83					0	0	1	0	0
LRP1B	53353	broad.mit.edu	37	2	141812761	141812761	+	Silent	SNP	G	G	A	rs149937533		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:141812761G>A	ENST00000389484.3	-	10	2447	c.1476C>T	c.(1474-1476)ctC>ctT	p.L492L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	492					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AACTGCTGCTGAGTAGACAGA	0.428000										TSP Lung(27;0.18)			7	71					0	0	1	0	0
VENTX	27287	broad.mit.edu	37	10	135053307	135053307	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:135053307G>T	ENST00000325980.9	+	2	880	c.369G>T	c.(367-369)agG>agT	p.R123S		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	123					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		AGCGGAAGAGGCTGGCCAGGG	0.687000													3	31					1	1	1	1	0
SLC26A10	65012	broad.mit.edu	37	12	58017661	58017661	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:58017661C>T	ENST00000379218.2	+	8	1407	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L	SLC26A10_ENST00000320442.4_Silent_p.L366L			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	366						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					GTCGGTGCTGCTGTGGCTGGG	0.562000													14	84					0	0	1	0	0
VWA3B	200403	broad.mit.edu	37	2	98744726	98744726	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:98744726G>A	ENST00000477737.1	+	6	931	c.727G>A	c.(727-729)Gtg>Atg	p.V243M	VWA3B_ENST00000451075.2_Missense_Mutation_p.V93M|VWA3B_ENST00000435344.1_Missense_Mutation_p.V243M	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	243										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTACTTTGTGGTGGGGGATGT	0.498000													31	106					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46567156	46567156	+	Silent	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:46567156G>C	ENST00000458649.2	-	5	967	c.549C>G	c.(547-549)gtC>gtG	p.V183V	AMBRA1_ENST00000314845.3_Silent_p.V183V|AMBRA1_ENST00000426438.1_Silent_p.V183V|AMBRA1_ENST00000534300.1_Silent_p.V183V|AMBRA1_ENST00000533727.1_Silent_p.V183V|AMBRA1_ENST00000528950.1_Silent_p.V183V|AMBRA1_ENST00000298834.3_Silent_p.V183V			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	183					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GCACTCACCGGACCCGTTCCA	0.547000													14	97					0	0	1	0	0
NFATC3	4775	broad.mit.edu	37	16	68224692	68224692	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:68224692G>A	ENST00000349223.5	+	9	2344	c.2120G>A	c.(2119-2121)aGa>aAa	p.R707K	NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000346183.3_Missense_Mutation_p.R707K|NFATC3_ENST00000575270.1_Missense_Mutation_p.R707K|NFATC3_ENST00000329524.4_Missense_Mutation_p.R707K	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	707					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		CAAGAACACAGAGAAGAGATT	0.388000													6	120					0	0	1	0	0
SLIT3	6586	broad.mit.edu	37	5	168100246	168100246	+	Silent	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:168100246T>C	ENST00000519560.1	-	33	4196	c.3777A>G	c.(3775-3777)ccA>ccG	p.P1259P	SLIT3_ENST00000404867.3_Silent_p.P1259P|SLIT3_ENST00000332966.8_Silent_p.P1266P	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1259	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCAGGCTCTTTGGAGTTCCTT	0.552000													19	60					0	0	1	0	0
CADPS2	93664	broad.mit.edu	37	7	122130270	122130270	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr7:122130270C>A	ENST00000334010.7	-	11	2138	c.1717G>T	c.(1717-1719)Gat>Tat	p.D573Y	CADPS2_ENST00000449022.2_Missense_Mutation_p.D573Y|CADPS2_ENST00000412584.2_Missense_Mutation_p.D573Y|CADPS2_ENST00000313070.7_Missense_Mutation_p.D573Y	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	573	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TGTTCATCATCACTGGCAAAG	0.388000													6	133					1.26484e-09	1.39745e-09	1	1	0
GLA	2717	broad.mit.edu	37	X	100656704	100656704	+	Missense_Mutation	SNP	C	C	G	rs113419388		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chrX:100656704C>G	ENST00000218516.3	-	3	484	c.463G>C	c.(463-465)Gat>Cat	p.D155H	RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000479445.1_5'UTR	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	155					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	GTCTGGGCATCAATGTCGTAG	0.428000													29	42					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62783261	62783261	+	Silent	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:62783261A>G	ENST00000280377.5	+	12	1582	c.1524A>G	c.(1522-1524)gcA>gcG	p.A508A	USP15_ENST00000393654.3_Silent_p.A483A|USP15_ENST00000353364.3_Silent_p.A479A	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	508					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TTTGTACAGCATTGTCTGCTT	0.308000													14	51					0	0	1	0	0
REC8	9985	broad.mit.edu	37	14	24648055	24648055	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr14:24648055G>A	ENST00000311457.3	+	15	1732	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	REC8_ENST00000559919.1_Missense_Mutation_p.R378Q			O95072	REC8_HUMAN	REC8 meiotic recombination protein	379	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GCCCTCAGGCGAGAGCTGCCT	0.582000													14	186					0	0	1	0	0
GDF9	2661	broad.mit.edu	37	5	132198223	132198223	+	Silent	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:132198223T>C	ENST00000378673.2	-	3	1289	c.423A>G	c.(421-423)ctA>ctG	p.L141L	GDF9_ENST00000464378.1_5'UTR|GDF9_ENST00000296875.2_Silent_p.L141L			O60383	GDF9_HUMAN	growth differentiation factor 9	141					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCAGGTTAAATAGCAGTTCCA	0.383000													11	29					0	0	1	0	0
SYNM	23336	broad.mit.edu	37	15	99670051	99670051	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr15:99670051C>G	ENST00000336292.6	+	5	1603	c.1483C>G	c.(1483-1485)Ctg>Gtg	p.L495V	SYNM_ENST00000560674.1_Missense_Mutation_p.L210V|SYNM_ENST00000328642.7_Missense_Mutation_p.L495V|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	496	Tail.				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						GACCGTCATTCTGGGAAAGAA	0.493000													3	21					0	0	1	0	0
MFSD10	10227	broad.mit.edu	37	4	2934901	2934901	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr4:2934901G>A	ENST00000329687.4	-	3	838	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L	MFSD10_ENST00000355443.4_Silent_p.L102L|MFSD10_ENST00000508221.1_Silent_p.L102L|MFSD10_ENST00000507555.1_Silent_p.L102L|MFSD10_ENST00000514800.1_Silent_p.L102L	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	102					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCGCACACAGAAACTGCAGG	0.617000													3	31					0	0	1	0	0
ABCC6	368	broad.mit.edu	37	16	16276399	16276399	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:16276399G>A	ENST00000205557.7	-	17	2146	c.2117C>T	c.(2116-2118)tCt>tTt	p.S706F	ABCC6_ENST00000574094.1_Intron	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	706	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		CTCTACCACAGAGGTGTTCTG	0.577000													10	51					0	0	1	0	0
MAK	4117	broad.mit.edu	37	6	10796367	10796367	+	Missense_Mutation	SNP	T	T	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:10796367T>G	ENST00000313243.2	-	9	1389	c.1007A>C	c.(1006-1008)cAg>cCg	p.Q336P	MAK_ENST00000354489.2_Missense_Mutation_p.Q336P|MAK_ENST00000536370.1_3'UTR|MAK_ENST00000538030.1_Missense_Mutation_p.Q336P|RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000474039.1_Missense_Mutation_p.Q336P			P20794	MAK_HUMAN	male germ cell-associated kinase	336	Glu/Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|cyclin-dependent protein kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				AGTTTTTGGCTGGGGTTGTCC	0.502000													9	77					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21613156	21613156	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chrX:21613156G>A	ENST00000425654.2	+	15	2285	c.1805G>A	c.(1804-1806)cGc>cAc	p.R602H	CNKSR2_ENST00000543067.1_Missense_Mutation_p.R583H|CNKSR2_ENST00000279451.4_Missense_Mutation_p.R632H|CNKSR2_ENST00000379510.3_Missense_Mutation_p.R632H	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	632	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding	p.R632H(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGTGAATGCCGCAAAAAATAG	0.323000													8	9					0	0	1	0	0
TXLNB	167838	broad.mit.edu	37	6	139583802	139583802	+	Missense_Mutation	SNP	C	C	G	rs140293549		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:139583802C>G	ENST00000358430.3	-	5	1028	c.796G>C	c.(796-798)Gag>Cag	p.E266Q		NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	266						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		ATATTTCGCTCACTCTGCTGC	0.502000													17	57					0	0	1	0	0
RPGR	6103	broad.mit.edu	37	X	38156638	38156638	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chrX:38156638G>C	ENST00000378505.2	-	11	1489	c.1313C>G	c.(1312-1314)tCt>tGt	p.S438C	TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000339363.3_Missense_Mutation_p.S438C|RPGR_ENST00000342811.3_Missense_Mutation_p.S438C|RPGR_ENST00000309513.3_Missense_Mutation_p.S376C|RPGR_ENST00000318842.7_Missense_Mutation_p.S438C|RPGR_ENST00000338898.3_Missense_Mutation_p.S438C	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	438					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						AAAACAAGCAGAAAGGCCAAG	0.428000													10	20					0	0	1	0	0
VWCE	220001	broad.mit.edu	37	11	61026231	61026231	+	Silent	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:61026231G>C	ENST00000335613.5	-	20	3170	c.2784C>G	c.(2782-2784)ctC>ctG	p.L928L	VWCE_ENST00000535710.1_Silent_p.L393L	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	928						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGCTGTGGAGAGTCTAGAGG	0.642000													13	64					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32015617	32015617	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:32015617C>T	ENST00000375244.3	-	30	10419	c.10218G>A	c.(10216-10218)cgG>cgA	p.R3406R	TNXB_ENST00000375247.2_Silent_p.R3404R			P22105	TENX_HUMAN	tenascin XB	3451	Fibronectin type-III 26.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGTGACCTCCCGCTGGTTGG	0.602000													4	15					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140782758	140782758	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:140782758G>T	ENST00000573521.1	+	1	239	c.239G>T	c.(238-240)cGc>cTc	p.R80L	PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAACCCGCGCAGCGGCACC	0.612000													8	37					0.00307968	0.0031723	1	1	0
MEFV	4210	broad.mit.edu	37	16	3293384	3293384	+	Silent	SNP	C	C	T	rs104895095		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:3293384C>T	ENST00000219596.1	-	10	2142	c.2103G>A	c.(2101-2103)gcG>gcA	p.A701A	MEFV_ENST00000536379.1_Silent_p.A490A|MEFV_ENST00000339854.4_Silent_p.A521A|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	701	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.A701A(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	GAACGCTGGACGCCTGGTACT	0.517000													14	69					0	0	1	0	0
METRNL	284207	broad.mit.edu	37	17	81052039	81052039	+	Missense_Mutation	SNP	G	G	A	rs147805686		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:81052039G>A	ENST00000571814.1	+	3	1350	c.409G>A	c.(409-411)Gag>Aag	p.E137K	METRNL_ENST00000570778.1_Missense_Mutation_p.E137K|METRNL_ENST00000571940.1_3'UTR|METRNL_ENST00000320095.7_Missense_Mutation_p.E219K			Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	219						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			CCACGAGCCTGAGCGGCAGGA	0.637000													4	167					0	0	1	0	0
NSD1	64324	broad.mit.edu	37	5	176696618	176696618	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:176696618G>C	ENST00000439151.2	+	16	5364	c.5319G>C	c.(5317-5319)gaG>gaC	p.E1773D	NSD1_ENST00000361032.4_Missense_Mutation_p.E1670D|NSD1_ENST00000347982.4_Missense_Mutation_p.E1504D|NSD1_ENST00000354179.4_Missense_Mutation_p.E1504D	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1773	PWWP 2.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GGCCAGCTGAGATCTGCCATC	0.433000			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			3	48					0	0	1	0	0
ZFP30	22835	broad.mit.edu	37	19	38126225	38126225	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:38126225C>T	ENST00000351218.2	-	6	1774	c.1217G>A	c.(1216-1218)gGa>gAa	p.G406E	ZFP30_ENST00000589018.1_Intron|ZFP30_ENST00000392144.1_Missense_Mutation_p.G406E|ZFP30_ENST00000514101.2_Missense_Mutation_p.G406E	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGTTTCTCTCCAATGTGAAT	0.388000													8	47					0	0	1	0	0
GRAMD3	65983	broad.mit.edu	37	5	125813438	125813438	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:125813438C>A	ENST00000285689.3	+	6	1002	c.541C>A	c.(541-543)Cta>Ata	p.L181I	GRAMD3_ENST00000511134.1_Missense_Mutation_p.L165I|GRAMD3_ENST00000502348.1_Missense_Mutation_p.L72I|GRAMD3_ENST00000513040.1_Missense_Mutation_p.L196I|GRAMD3_ENST00000515200.1_Missense_Mutation_p.L158I|GRAMD3_ENST00000542322.1_Missense_Mutation_p.L189I|GRAMD3_ENST00000544396.1_Missense_Mutation_p.L77I|GRAMD3_ENST00000543198.1_Missense_Mutation_p.L158I|RP11-517I3.1_ENST00000515808.1_RNA	NM_023927.2	NP_076416.2	Q96HH9	GRAM3_HUMAN	GRAM domain containing 3	181										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		AACTGCTCTTCTAGTGCCAAA	0.478000													21	68					3.28513e-13	3.73496e-13	1	1	0
C16orf11	146325	broad.mit.edu	37	16	613542	613542	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:613542C>T	ENST00000409413.3	+	2	527	c.248C>T	c.(247-249)cCt>cTt	p.P83L		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	83	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						TCCACCACGCCTAGGCCCCAC	0.692000													4	23					0	0	1	0	0
BPTF	2186	broad.mit.edu	37	17	65907091	65907091	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:65907091C>A	ENST00000321892.4	+	13	3530	c.3469C>A	c.(3469-3471)Cag>Aag	p.Q1157K	BPTF_ENST00000335221.5_Missense_Mutation_p.Q1157K|BPTF_ENST00000306378.6_Missense_Mutation_p.Q1031K|BPTF_ENST00000424123.3_Missense_Mutation_p.Q1018K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1157					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGTAAATTGTCAGGAGAGTTC	0.383000													9	62					0.000274275	0.000286837	1	1	0
PROS1	5627	broad.mit.edu	37	3	93611862	93611862	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:93611862C>A	ENST00000394236.3	-	10	1386	c.1070G>T	c.(1069-1071)gGa>gTa	p.G357V	PROS1_ENST00000407433.1_Missense_Mutation_p.G226V	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	357	Laminin G-like 1.		G -> R (in PROS1D).		leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTCAATCTTTCCACCACGAAG	0.403000													7	66					0.00198382	0.00205119	1	1	0
CSMD3	114788	broad.mit.edu	37	8	113353795	113353795	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr8:113353795G>C	ENST00000297405.5	-	42	6807	c.6563C>G	c.(6562-6564)tCt>tGt	p.S2188C	CSMD3_ENST00000343508.3_Missense_Mutation_p.S2148C|CSMD3_ENST00000352409.3_Missense_Mutation_p.S2118C|CSMD3_ENST00000455883.2_Missense_Mutation_p.S2084C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2188	CUB 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GAATAAGGAAGATGGTATTTG	0.368000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			20	87					0	0	1	0	0
XDH	7498	broad.mit.edu	37	2	31572693	31572693	+	Missense_Mutation	SNP	C	C	T	rs138396004		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:31572693C>T	ENST00000379416.3	-	26	2876	c.2828G>A	c.(2827-2829)cGg>cAg	p.R943Q		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	943					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTTTTTTCTCCGCACCTTCCC	0.542000													4	54					0	0	1	0	0
FAM135B	51059	broad.mit.edu	37	8	139163874	139163874	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr8:139163874C>A	ENST00000395297.1	-	13	3014	c.2844G>T	c.(2842-2844)agG>agT	p.R948S		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	948										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGTTGAGTTCCTGTTGATGG	0.488000										HNSCC(54;0.14)			29	114					1.75199e-13	2.00018e-13	1	1	0
USP28	57646	broad.mit.edu	37	11	113683113	113683113	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:113683113G>A	ENST00000003302.4	-	16	1925	c.1857C>T	c.(1855-1857)atC>atT	p.I619I	USP28_ENST00000545540.1_Silent_p.I494I|USP28_ENST00000260188.5_Silent_p.I619I|USP28_ENST00000544967.1_Silent_p.I327I	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	619					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CAGTAACAGAGATGTCATTGT	0.418000													10	77					0	0	1	0	0
CEP152	22995	broad.mit.edu	37	15	49074365	49074365	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr15:49074365T>C	ENST00000380950.2	-	11	1571	c.1384A>G	c.(1384-1386)Atg>Gtg	p.M462V	CEP152_ENST00000399334.3_Missense_Mutation_p.M462V|CEP152_ENST00000325747.5_Missense_Mutation_p.M369V	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	462					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTTGCACTCATAGCATGTGCC	0.443000													10	61					0	0	1	0	0
AMIGO3	386724	broad.mit.edu	37	3	49756494	49756494	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:49756494C>T	ENST00000535833.1	-	10	3855	c.405G>A	c.(403-405)ctG>ctA	p.L135L	RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Silent_p.L135L|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000497099.1_Intron|RNF123_ENST00000433785.1_Intron			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	135					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCAGCTTCTCCAGCGCCCCCA	0.637000											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	85					0	0	1	0	0
PJA1	64219	broad.mit.edu	37	X	68381656	68381656	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chrX:68381656C>T	ENST00000361478.1	-	2	1803	c.1426G>A	c.(1426-1428)Gat>Aat	p.D476N	PJA1_ENST00000374584.3_Missense_Mutation_p.D288N|PJA1_ENST00000374571.4_Missense_Mutation_p.D421N|PJA1_ENST00000374583.1_Missense_Mutation_p.D476N	NM_001032396.2|NM_022368.4|NM_145119.3	NP_001027568.1|NP_071763.2|NP_660095.1	Q8NG27	PJA1_HUMAN	praja ring finger 1, E3 ubiquitin protein ligase	476							zinc ion binding			endometrium(3)|large_intestine(5)|lung(12)|ovary(1)	21						GAATCATTATCCCCCTCACTG	0.478000													4	115					0	0	1	0	0
EPS8	2059	broad.mit.edu	37	12	15815014	15815014	+	Silent	SNP	A	A	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:15815014A>G	ENST00000281172.5	-	9	1192	c.756T>C	c.(754-756)taT>taC	p.Y252Y	EPS8_ENST00000543612.1_Silent_p.Y252Y|EPS8_ENST00000543523.1_Silent_p.Y252Y|EPS8_ENST00000540613.1_5'UTR|EPS8_ENST00000542903.1_5'UTR	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	252					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CCTGCTCATGATACTGCCTTG	0.383000													3	136					0	0	1	0	0
ZIK1	284307	broad.mit.edu	37	19	58101415	58101415	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:58101415C>T	ENST00000597850.1	+	4	451	c.236C>T	c.(235-237)tCt>tTt	p.S79F	ZIK1_ENST00000307468.4_Silent_p.L24L|ZIK1_ENST00000536878.2_Missense_Mutation_p.S66F|ZIK1_ENST00000599456.1_Missense_Mutation_p.S24F	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GAGACACCTTCTGACCAGAAT	0.458000													8	45					0	0	1	0	0
ZFPL1	7542	broad.mit.edu	37	11	64855481	64855481	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:64855481C>T	ENST00000294258.3	+	8	980	c.828C>T	c.(826-828)ttC>ttT	p.F276F		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	276					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						TGCTGGGCTTCCTGGCCCTCC	0.687000													7	101					0	0	1	0	0
USP15	9958	broad.mit.edu	37	12	62798096	62798096	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:62798096G>A	ENST00000280377.5	+	22	2945	c.2887G>A	c.(2887-2889)Gaa>Aaa	p.E963K	USP15_ENST00000393654.3_Missense_Mutation_p.E938K|USP15_ENST00000353364.3_Missense_Mutation_p.E934K	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	963					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AGAAAGTGATGAAGATAGCAA	0.403000													14	46					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32745308	32745308	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr13:32745308G>A	ENST00000380250.3	+	18	2548	c.2052G>A	c.(2050-2052)tcG>tcA	p.S684S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	684					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCCTTGATTCGTCCCTGAAGT	0.443000													30	51					0	0	1	0	0
CSMD2	114784	broad.mit.edu	37	1	34166245	34166245	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:34166245C>T	ENST00000373381.4	-	23	3781	c.3605G>A	c.(3604-3606)cGt>cAt	p.R1202H	CSMD2_ENST00000373388.2_5'UTR|CSMD2_ENST00000373380.1_Missense_Mutation_p.R75H	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1162	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCCAGCAAACGGGCGGAGTT	0.498000													20	52					0	0	1	0	0
ATP2A1	487	broad.mit.edu	37	16	28913966	28913966	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:28913966C>G	ENST00000395503.4	+	18	2774	c.2590C>G	c.(2590-2592)Cat>Gat	p.H864D	ATP2A1_ENST00000536376.1_Missense_Mutation_p.H739D|ATP2A1_ENST00000357084.3_Missense_Mutation_p.H864D	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	864					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						GGATGGGCCTCATGTCAACTA	0.652000													14	54					0	0	1	0	0
KRT2	3849	broad.mit.edu	37	12	53044194	53044194	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:53044194G>A	ENST00000309680.3	-	2	750	c.729C>T	c.(727-729)ctC>ctT	p.L243L		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	243	Coil 1B.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton	p.L243L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TTTCTGCAGTGAGCCCATCCA	0.488000													47	177					0	0	1	0	0
PCDHGA9	56107	broad.mit.edu	37	5	140782853	140782853	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:140782853G>C	ENST00000573521.1	+	1	334	c.334G>C	c.(334-336)Gac>Cac	p.D112H	PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGTTGAAGACAGAGTGAA	0.507000													18	59					0	0	1	0	0
NOL3	8996	broad.mit.edu	37	16	67208978	67208978	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:67208978G>A	ENST00000568146.1	+	4	691	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	NOL3_ENST00000432069.2_3'UTR|NOL3_ENST00000564053.1_3'UTR|NOL3_ENST00000268605.7_3'UTR			O60936	NOL3_HUMAN	nucleolar protein 3 (apoptosis repressor with CARD domain)	213					anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		TCTGACAGGCGGTGCCCCGCC	0.612000													31	162					0	0	1	0	0
BTBD11	121551	broad.mit.edu	37	12	108006588	108006588	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:108006588G>A	ENST00000280758.5	+	6	2369	c.1841G>A	c.(1840-1842)cGt>cAt	p.R614H	BTBD11_ENST00000420571.2_Missense_Mutation_p.R614H|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Missense_Mutation_p.R151H|BTBD11_ENST00000490090.2_Missense_Mutation_p.R614H	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	614						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCCTGCGTCCGTGGGGACGAG	0.577000													7	41					0	0	1	0	0
SLC25A1	6576	broad.mit.edu	37	22	19164697	19164697	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr22:19164697C>G	ENST00000215882.5	-	5	618	c.462G>C	c.(460-462)caG>caC	p.Q154H	SLC25A1_ENST00000461267.1_5'UTR|SLC25A1_ENST00000451283.1_Missense_Mutation_p.Q51H	NM_005984.3	NP_005975.1	P53007	TXTP_HUMAN	solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1	154					gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		TTGGGGAGGTCTGGTCGTGGA	0.602000													12	33					0	0	1	0	0
ZNF214	7761	broad.mit.edu	37	11	7022459	7022459	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:7022459C>G	ENST00000278314.4	-	3	770	c.455G>C	c.(454-456)aGa>aCa	p.R152T	ZNF214_ENST00000536068.1_Missense_Mutation_p.R152T	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		GTAGATTTCTCTACCATAGTC	0.378000													12	74					0	0	1	0	0
OR8B8	26493	broad.mit.edu	37	11	124310774	124310774	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:124310774C>A	ENST00000328064.2	-	1	280	c.208G>T	c.(208-210)Gat>Tat	p.D70Y		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAGCAGAAATCTATGAAGGAC	0.453000													5	56					0.000602214	0.000627402	1	1	0
SPTBN2	6712	broad.mit.edu	37	11	66453742	66453742	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:66453742G>A	ENST00000529997.1	-	35	7065	c.7066C>T	c.(7066-7068)Cga>Tga	p.R2356*	SPTBN2_ENST00000533211.1_Intron|SPTBN2_ENST00000309996.2_Intron			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	0					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						TGCGGCCGTCGCACACATCCA	0.552000													5	37					0	0	1	0	0
NCR2	9436	broad.mit.edu	37	6	41304071	41304071	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:41304071G>C	ENST00000373083.4	+	2	521	c.299G>C	c.(298-300)aGa>aCa	p.R100T	NCR2_ENST00000373089.5_Missense_Mutation_p.R100T|NCR2_ENST00000373086.3_Missense_Mutation_p.R100T	NM_001199510.1	NP_001186439.1	O95944	NCTR2_HUMAN	natural cytotoxicity triggering receptor 2	100	Ig-like.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	14	Ovarian(28;0.0327)|Colorectal(47;0.196)					ACTGATCTGAGAGAGGAAGAC	0.517000													3	72					0	0	1	0	0
CYP39A1	51302	broad.mit.edu	37	6	46607298	46607298	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:46607298C>T	ENST00000275016.2	-	3	624	c.421G>A	c.(421-423)Gaa>Aaa	p.E141K		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	141					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TGTAATTCTTCAGTCAGTTGC	0.378000													7	75					0	0	1	0	0
CASR	846	broad.mit.edu	37	3	121980624	121980624	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:121980624G>A	ENST00000498619.1	+	4	1180	c.742G>A	c.(742-744)Gat>Aat	p.D248N	CASR_ENST00000490131.1_Missense_Mutation_p.D248N|CASR_ENST00000296154.5_Missense_Mutation_p.D248N	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	248					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CCAGTACTCTGATGAGGAAGA	0.502000													5	207					0	0	1	0	0
ARAP2	116984	broad.mit.edu	37	4	36195235	36195235	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr4:36195235C>A	ENST00000303965.4	-	7	2011	c.1522G>T	c.(1522-1524)Gat>Tat	p.D508Y		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	508	PH 1.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						CTAAGGCCATCAAATTTCACC	0.279000													5	25					2.7689e-08	3.02262e-08	1	1	0
ZDHHC5	25921	broad.mit.edu	37	11	57457644	57457644	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:57457644G>A	ENST00000287169.3	+	5	1888	c.526G>A	c.(526-528)Gag>Aag	p.E176K	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.E123K	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	176						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CTACCACATAGAGGAACTCTC	0.502000													6	75					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47851509	47851509	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr21:47851509G>A	ENST00000359568.5	+	38	8238	c.8131G>A	c.(8131-8133)Gag>Aag	p.E2711K	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2711					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACTGAAACACGAGCAGACGGC	0.597000													12	55					0	0	1	0	0
UGT3A2	167127	broad.mit.edu	37	5	36049133	36049133	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:36049133C>G	ENST00000282507.3	-	4	802	c.701G>C	c.(700-702)aGg>aCg	p.R234T	UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.R200T|UGT3A2_ENST00000545528.1_Intron	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	234						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAAACTGGCCTAGAGCCTTC	0.418000													22	83					0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23966391	23966391	+	Silent	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:23966391G>T	ENST00000335694.4	-	5	648	c.444C>A	c.(442-444)ggC>ggA	p.G148G	GGTLC1_ENST00000278765.4_Silent_p.G148G|GGTLC1_ENST00000286890.4_Silent_p.G148G	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	148							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						TCACGTCATAGCCGAACCAGA	0.612000													55	129					4.45325e-31	5.12686e-31	1	1	0
AARS	16	broad.mit.edu	37	16	70299548	70299548	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:70299548G>A	ENST00000261772.8	-	10	1383	c.1240C>T	c.(1240-1242)Ctc>Ttc	p.L414F		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	414					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GTGTCATAGAGGAGCCAAGCA	0.507000													11	21					0	0	1	0	0
WNT7A	7476	broad.mit.edu	37	3	13916516	13916516	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:13916516G>A	ENST00000285018.4	-	2	530	c.226C>T	c.(226-228)Cag>Tag	p.Q76*	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	76					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TTGCGGAACTGAAACTGACAC	0.617000													9	59					0	0	1	0	0
SUZ12	23512	broad.mit.edu	37	17	30315444	30315444	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:30315444C>T	ENST00000322652.5	+	10	1358	c.1129C>T	c.(1129-1131)Ctt>Ttt	p.L377F	SUZ12_ENST00000580398.1_Missense_Mutation_p.L354F	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	377					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TGCCAAACCTCTTGCCACTAG	0.413000			T	JAZF1	endometrial stromal tumours								8	41					0	0	1	0	0
YEATS2	55689	broad.mit.edu	37	3	183442274	183442274	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:183442274C>T	ENST00000305135.5	+	6	800	c.605C>T	c.(604-606)tCa>tTa	p.S202L		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	202					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GATGAGACTTCACGACTTTTT	0.343000													6	39					0	0	1	0	0
GRIP1	23426	broad.mit.edu	37	12	66770815	66770815	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:66770815C>T	ENST00000359742.4	-	22	3000	c.2760G>A	c.(2758-2760)ttG>ttA	p.L920L	GRIP1_ENST00000398016.3_Silent_p.L868L|GRIP1_ENST00000286445.7_Intron			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	920					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TCATGTTTCTCAAAGACACAC	0.393000													15	95					0	0	1	0	0
ZNF233	353355	broad.mit.edu	37	19	44778580	44778580	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:44778580G>C	ENST00000391958.2	+	5	1894	c.1767G>C	c.(1765-1767)gaG>gaC	p.E589D	ZNF235_ENST00000589799.1_Intron|ZNF233_ENST00000334152.1_Missense_Mutation_p.E571D|ZNF233_ENST00000592581.1_3'UTR	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	589					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E589E(1)		breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				ACACAGGAGAGAAACCATACA	0.438000													3	103					0	0	1	0	0
SMARCA2	6595	broad.mit.edu	37	9	2088542	2088542	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr9:2088542C>A	ENST00000382203.1	+	19	3021	c.2812C>A	c.(2812-2814)Cta>Ata	p.L938I	SMARCA2_ENST00000349721.2_Missense_Mutation_p.L938I|SMARCA2_ENST00000382194.1_Missense_Mutation_p.L938I|SMARCA2_ENST00000357248.2_Missense_Mutation_p.L938I			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	938					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CATCAGGCGTCTACATAAGGT	0.343000													9	78					9.70103e-10	1.07615e-09	1	1	0
ATAD2	29028	broad.mit.edu	37	8	124383930	124383930	+	Silent	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr8:124383930C>A	ENST00000287394.5	-	4	623	c.516G>T	c.(514-516)ctG>ctT	p.L172L	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	172					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)			GTTTGTCAAACAGCATGGACT	0.363000													7	48					1.76689e-08	1.93652e-08	1	1	0
TUBA3E	112714	broad.mit.edu	37	2	130951802	130951802	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:130951802C>T	ENST00000312988.7	-	4	713	c.613G>A	c.(613-615)Gac>Aac	p.D205N		NM_207312.2	NP_997195	Q6PEY2	TBA3E_HUMAN	tubulin, alpha 3e	205					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2)	28	Colorectal(110;0.1)					GCTTCATTGTCGACCATGAAG	0.552000													9	62					0	0	1	0	0
WDR45	11152	broad.mit.edu	37	X	48933234	48933234	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chrX:48933234C>A	ENST00000356463.3	-	9	1136	c.698G>T	c.(697-699)cGc>cTc	p.R233L	WDR45_ENST00000485908.1_Missense_Mutation_p.R197L|AF196779.12_ENST00000376358.3_Missense_Mutation_p.R130L|WDR45_ENST00000376372.3_Missense_Mutation_p.R232L|WDR45_ENST00000322995.8_Missense_Mutation_p.R243L|WDR45_ENST00000553851.1_Missense_Mutation_p.R130L|WDR45_ENST00000376368.2_Missense_Mutation_p.R233L|WDR45_ENST00000396681.4_Missense_Mutation_p.R232L|WDR45_ENST00000473974.1_Missense_Mutation_p.R232L	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	232					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						AGTGCCTCGGCGCAGCTCCAC	0.567000													7	17					0.00448238	0.0045999	1	1	0
AMIGO3	386724	broad.mit.edu	37	3	49756011	49756011	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr3:49756011C>T	ENST00000535833.1	-	10	4338	c.888G>A	c.(886-888)ctG>ctA	p.L296L	RNF123_ENST00000327697.6_Intron|AMIGO3_ENST00000320431.7_Silent_p.L296L|GMPPB_ENST00000480687.1_3'UTR|RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000433785.1_Intron			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	296	Ig-like C2-type.				heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AGTAAAGCCTCAGGGACCGAC	0.652000													5	22					0	0	1	0	0
ZC3H18	124245	broad.mit.edu	37	16	88694357	88694357	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:88694357G>C	ENST00000301011.5	+	15	2499	c.2299G>C	c.(2299-2301)Gag>Cag	p.E767Q	ZC3H18_ENST00000452588.2_Missense_Mutation_p.E791Q	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	767						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CGGTGTTAAAGAGGAAAAGCG	0.522000													13	75					0	0	1	0	0
SECISBP2L	9728	broad.mit.edu	37	15	49285034	49285034	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr15:49285034C>T	ENST00000559471.1	-	18	2976	c.2713G>A	c.(2713-2715)Gaa>Aaa	p.E905K	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E860K	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	905										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTGGGTTTTTCAGAAGTGCTG	0.433000													27	95					0	0	1	0	0
F5	2153	broad.mit.edu	37	1	169512142	169512142	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:169512142C>G	ENST00000367796.3	-	13	2402	c.2201G>C	c.(2200-2202)aGa>aCa	p.R734T	F5_ENST00000367797.3_Missense_Mutation_p.R729T			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	729	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGCAGCCAGTCTGTTCTGGTA	0.433000													34	182					0	0	1	0	0
CALML3	810	broad.mit.edu	37	10	5567418	5567418	+	Missense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:5567418G>A	ENST00000315238.1	+	1	495	c.370G>A	c.(370-372)Gag>Aag	p.E124K	RP11-116G8.5_ENST00000442008.2_RNA|CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	124	EF-hand 4.						calcium ion binding			endometrium(3)|lung(2)	5						GGAGGTGGACGAGATGATCCG	0.657000													10	32					0	0	1	0	0
TELO2	9894	broad.mit.edu	37	16	1552951	1552951	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:1552951C>T	ENST00000262319.6	+	15	2069	c.1790C>T	c.(1789-1791)tCa>tTa	p.S597L	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	597						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				TATCTGACCTCACAGTTCTAT	0.657000													12	137					0	0	1	0	0
MAPK3	5595	broad.mit.edu	37	16	30129483	30129483	+	Splice_Site	SNP	A	A	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:30129483A>T	ENST00000484663.1	-	3	1336	c.203T>A	c.(202-204)aTt>aAt	p.I68N	MAPK3_ENST00000395202.1_Splice_Site_p.I182N|MAPK3_ENST00000395200.1_Intron|MAPK3_ENST00000322266.5_Splice_Site_p.I182N|MAPK3_ENST00000263025.4_Splice_Site_p.I182N|MAPK3_ENST00000403394.1_Splice_Site_p.I182N|MAPK3_ENST00000395199.3_Splice_Site_p.I182N			P27361	MK03_HUMAN	mitogen-activated protein kinase 3	182	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	GAAATCACAAATCTGGAATCA	0.592000													5	38					0	0	1	0	0
MYO1F	4542	broad.mit.edu	37	19	8617036	8617036	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr19:8617036C>G	ENST00000338257.8	-	7	784	c.517G>C	c.(517-519)Gag>Cag	p.E173Q		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	173	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						AACTGGATCTCAAAGTACTTG	0.557000													7	125					0	0	1	0	0
RBPJL	11317	broad.mit.edu	37	20	43940280	43940280	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:43940280G>A	ENST00000343694.3	+	4	381	c.309G>A	c.(307-309)gtG>gtA	p.V103V	RBPJL_ENST00000372743.1_Silent_p.V103V|RBPJL_ENST00000372741.3_Silent_p.V103V	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	103					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)				GCTGGAGGGTGAAGCCAGGGC	0.642000											OREG0025979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	26	37					0	0	1	0	0
BRD1	23774	broad.mit.edu	37	22	50192221	50192221	+	Splice_Site	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr22:50192221G>A	ENST00000542442.1	-	5	915	c.849C>T	c.(847-849)ccC>ccT	p.P283P	BRD1_ENST00000404034.1_Silent_p.P590P|BRD1_ENST00000457780.2_Silent_p.P590P|BRD1_ENST00000216267.8_Silent_p.P590P|BRD1_ENST00000404760.1_Silent_p.P590P|BRD1_ENST00000342989.5_Silent_p.P185P			O95696	BRD1_HUMAN	bromodomain containing 1	590					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCAGACTCACGGGCTGCGCAA	0.622000													14	70					0	0	1	0	0
PCNT	5116	broad.mit.edu	37	21	47851760	47851760	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr21:47851760G>A	ENST00000359568.5	+	38	8489	c.8382G>A	c.(8380-8382)ctG>ctA	p.L2794L	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2794					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					TGCAGAAGCTGAAGGAGGAGA	0.612000													7	35					0	0	1	0	0
TICRR	90381	broad.mit.edu	37	15	90119305	90119305	+	Missense_Mutation	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr15:90119305C>T	ENST00000268138.7	+	1	593	c.488C>T	c.(487-489)tCg>tTg	p.S163L	RP11-429B14.1_ENST00000559041.1_RNA|TICRR_ENST00000560985.1_Missense_Mutation_p.S163L					TOPBP1-interacting checkpoint and replication regulator																		TGTCCGCACTCGCAGAGGGAG	0.682000													3	23					0	0	1	0	0
OLFML1	283298	broad.mit.edu	37	11	7531263	7531263	+	Silent	SNP	C	C	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:7531263C>T	ENST00000329293.3	+	3	1447	c.1053C>T	c.(1051-1053)atC>atT	p.I351I	CTD-2516F10.2_ENST00000530201.1_RNA|OLFML1_ENST00000530135.1_Silent_p.I351I|OLFML1_ENST00000528758.1_3'UTR	NM_198474.3	NP_940876.2	Q6UWY5	OLFL1_HUMAN	olfactomedin-like 1	351	Olfactomedin-like.					extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TGGGCACTATCAGTGAGGAGG	0.517000													9	77					0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	24048864	24048864	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:24048864C>A	ENST00000546136.1	-	1	96	c.94G>T	c.(94-96)Gac>Tac	p.D32Y	SOX5_ENST00000545921.1_Missense_Mutation_p.D35Y|SOX5_ENST00000309359.1_Missense_Mutation_p.D32Y|SOX5_ENST00000381381.2_Missense_Mutation_p.D32Y|SOX5_ENST00000441133.2_Missense_Mutation_p.D45Y|SOX5_ENST00000451604.2_Missense_Mutation_p.D45Y|SOX5_ENST00000541536.1_Missense_Mutation_p.D32Y|SOX5_ENST00000541847.1_Missense_Mutation_p.D35Y|SOX5_ENST00000537393.1_Missense_Mutation_p.D45Y			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	45					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GGGAGCCCGTCACTCTCCTCT	0.527000													35	183					1.04594e-18	1.19911e-18	1	1	0
COL5A2	1290	broad.mit.edu	37	2	189909924	189909924	+	Missense_Mutation	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:189909924G>C	ENST00000374866.3	-	47	3618	c.3344C>G	c.(3343-3345)gCt>gGt	p.A1115G		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1115					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ACGTTTCCCAGCTCGACCAGG	0.299000													5	27					0	0	1	0	0
SHISA3	152573	broad.mit.edu	37	4	42403249	42403249	+	Silent	SNP	G	G	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr4:42403249G>C	ENST00000319234.4	+	2	716	c.498G>C	c.(496-498)acG>acC	p.T166T		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	166					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						GCACAGCCACGAGCTCCAGCT	0.672000													16	116					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43485074	43485074	+	Missense_Mutation	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr7:43485074C>A	ENST00000395891.2	+	11	2908	c.2303C>A	c.(2302-2304)cCg>cAg	p.P768Q	HECW1_ENST00000453890.1_Missense_Mutation_p.P768Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGCGCTGGGCCGTGGCAAGAC	0.647000													3	21					1	1	1	1	0
ANO1	55107	broad.mit.edu	37	11	70003070	70003070	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:70003070G>A	ENST00000355303.5	+	16	1826	c.1521G>A	c.(1519-1521)ctG>ctA	p.L507L	ANO1_ENST00000530676.1_Silent_p.L361L|ANO1_ENST00000398543.2_Silent_p.L361L|ANO1_ENST00000316296.5_Silent_p.L449L|ANO1_ENST00000531349.1_Silent_p.L216L|ANO1_ENST00000538023.1_Silent_p.L507L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	507					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AAGTGAAGCTGACATGGAGAG	0.502000													4	17					0	0	1	0	0
ADRM1	11047	broad.mit.edu	37	20	60878630	60878630	+	Silent	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr20:60878630G>A	ENST00000253003.2	+	2	52	c.6G>A	c.(4-6)acG>acA	p.T2T	ADRM1_ENST00000462554.1_3'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	2	Interaction with PSMD1.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			TCAGGATGACGACCTCAGGCG	0.667000													9	108					0	0	1	0	0
CCDC147	159686	broad.mit.edu	37	10	106214254	106214254	+	Missense_Mutation	SNP	G	G	T			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr10:106214254G>T	ENST00000369704.3	+	18	2719	c.2585G>T	c.(2584-2586)gGa>gTa	p.G862V		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	862										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACTGGGGGCGGATTTCCTCTC	0.463000													19	102					1.56452e-12	1.7714e-12	1	1	0
FOXF2	2295	broad.mit.edu	37	6	1390560	1390560	+	Silent	SNP	C	C	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:1390560C>A	ENST00000259806.1	+	1	492	c.378C>A	c.(376-378)atC>atA	p.I126I		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	126					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TCAGCGAGATCTACCAGTTCC	0.647000													8	28					5.18039e-06	5.5883e-06	1	1	0
BTN3A3	10384	broad.mit.edu	37	6	26443857	26443857	+	Missense_Mutation	SNP	T	T	C			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr6:26443857T>C	ENST00000244519.2	+	3	298	c.55T>C	c.(55-57)Ttc>Ctc	p.F19L	BTN3A3_ENST00000339789.4_Intron|BTN3A3_ENST00000361232.3_Intron	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	19						integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						TGTCTCCCTCTTCTTGGTCCA	0.428000													5	52					0	0	1	0	0
RGS9	8787	broad.mit.edu	37	17	63173909	63173909	+	Silent	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:63173909C>G	ENST00000449996.3	+	9	714	c.642C>G	c.(640-642)gtC>gtG	p.V214V	RGS9_ENST00000262406.9_Silent_p.V214V|RGS9_ENST00000577186.1_3'UTR|RGS9_ENST00000443584.3_Silent_p.V214V	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	214					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CGAATGAAGTCAAGGTAAACC	0.493000													33	130					0	0	1	0	0
AMBRA1	55626	broad.mit.edu	37	11	46567257	46567257	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr11:46567257G>A	ENST00000458649.2	-	5	866	c.448C>T	c.(448-450)Cag>Tag	p.Q150*	AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.Q150*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.Q150*|AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.Q150*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.Q150*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.Q150*|AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.Q150*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	150					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGCAGGAGCTGAGCCGTAGGG	0.527000													13	57					0	0	1	0	0
ATP2B1	490	broad.mit.edu	37	12	90036059	90036059	+	Missense_Mutation	SNP	C	C	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:90036059C>G	ENST00000428670.3	-	3	738	c.282G>C	c.(280-282)aaG>aaC	p.K94N	ATP2B1_ENST00000261173.2_Missense_Mutation_p.K94N|ATP2B1_ENST00000359142.3_Missense_Mutation_p.K94N|ATP2B1_ENST00000348959.3_Missense_Mutation_p.K94N			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	94					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						AGGTTTTTGGCTTTTTAGGAG	0.318000													41	241					0	0	1	0	0
RIT1	6016	broad.mit.edu	37	1	155874559	155874561	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr1:155874559_155874561delTCA	ENST00000368323.3	-	4	402_404	c.198_200delTGA	c.(196-201)gatgag>gag	p.D66del	RIT1_ENST00000368322.3_In_Frame_Del_p.D83del|RIT1_ENST00000539040.1_In_Frame_Del_p.D30del	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	66					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			ATTGGCAGGCTCATCATCAATAC	0.409													11	100	---	---	---	---					
RBM43	375287	broad.mit.edu	37	2	152108088	152108088	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:152108088delT	ENST00000331426.5	-	4	557	c.406delA	c.(406-408)atcfs	p.I136fs		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	136							nucleotide binding|RNA binding	p.I136fs*4(1)		endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		AAACTCGGGATTTTTTTTTTC	0.388													7	103	---	---	---	---					
TTN	7273	broad.mit.edu	37	2	179650463	179650470	+	Splice_Site	DEL	TCTTGATC	TCTTGATC	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr2:179650463_179650470delTCTTGATC	ENST00000589042.1	-	15	2595_2601	c.2371_2377delGATCAAGA	c.(2371-2379)gatcaagaa>aa	p.DQE791fs	TTN_ENST00000342175.6_Splice_Site_p.DQE745fs|TTN_ENST00000342992.6_Splice_Site_p.DQE791fs|TTN_ENST00000591111.1_Splice_Site_p.DQE791fs|TTN_ENST00000360870.5_Splice_Site_p.DQE791fs|TTN_ENST00000460472.2_Splice_Site_p.DQE745fs|TTN_ENST00000359218.5_Splice_Site_p.DQE745fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	791							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGTAGTTTTCTTGATCTGCATTGAAA	0.418													11	81	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187557747	187557747	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr4:187557747delT	ENST00000441802.2	-	5	4173	c.3964delA	c.(3964-3966)attfs	p.I1322fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1322	Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTGAAAGAATATCATATTCT	0.338										HNSCC(5;0.00058)			14	300	---	---	---	---					
RHOBTB3	22836	broad.mit.edu	37	5	95116086	95116086	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr5:95116086delC	ENST00000379982.3	+	9	1921	c.1413delC	c.(1411-1413)ttcfs	p.F471fs	GLRX_ENST00000508780.1_Intron|RHOBTB3_ENST00000504179.1_Frame_Shift_Del_p.F102fs	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	471	BTB 2.|Interaction with Rab9.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		AAGAGACTTTCTTGTCATTTT	0.418													20	73	---	---	---	---					
WNK1	65125	broad.mit.edu	37	12	970296	970297	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:970296_970297insA	ENST00000537687.1	+	7	2381_2382	c.1738_1739insA	c.(1738-1740)gaafs	p.E580fs	WNK1_ENST00000535572.1_Frame_Shift_Ins_p.E580fs|WNK1_ENST00000315939.6_Frame_Shift_Ins_p.E580fs|WNK1_ENST00000530271.2_Frame_Shift_Ins_p.E580fs|WNK1_ENST00000540360.1_3'UTR|WNK1_ENST00000340908.4_Frame_Shift_Ins_p.E173fs	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	580					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	p.?(1)		breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGAGGAGCAAGAAAAAAAAAAG	0.470													7	96	---	---	---	---					
DUSP6	1848	broad.mit.edu	37	12	89744602	89744603	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:89744602_89744603insG	ENST00000279488.7	-	2	1831_1832	c.600_601insC	c.(598-603)tccaacfs	p.N201fs	DUSP6_ENST00000547140.1_5'UTR|DUSP6_ENST00000308385.6_Intron|DUSP6_ENST00000547291.1_Frame_Shift_Ins_p.N76fs	NM_001946.2	NP_001937.2	Q16828	DUS6_HUMAN	dual specificity phosphatase 6	201					dorsal/ventral pattern formation|inactivation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|nerve growth factor receptor signaling pathway|positive regulation of apoptosis|regulation of endodermal cell fate specification|regulation of fibroblast growth factor receptor signaling pathway|regulation of heart growth|response to nitrosative stress|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(5)|lung(8)|skin(2)|urinary_tract(1)	16						GGCTGGCTGTTGGACAGCGGAC	0.564													19	138	---	---	---	---					
UTP20	27340	broad.mit.edu	37	12	101680157	101680157	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr12:101680157delT	ENST00000261637.4	+	5	559	c.385delT	c.(385-387)tttfs	p.F130fs		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	130					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CTTTCCAGAGTTTTTTTTGAC	0.398													8	241	---	---	---	---					
IGHV3-48	28424	broad.mit.edu	37	14	106993939	106993941	+	RNA	DEL	TAC	TAC	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr14:106993939_106993941delTAC	ENST00000390624.2	-	0	302_304																											TAGTATATGGTACTACTACTACT	0.502													8	350	---	---	---	---					
LOC102723841	102723841	broad.mit.edu	37	16	33365420	33365420	+	RNA	DEL	A	A	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:33365420delA	ENST00000568520.1	-	0	249																											TACAAACTATAAAAAAACAGA	0.358													3	3	---	---	---	---					
IRX6	79190	broad.mit.edu	37	16	55362674	55362676	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:55362674_55362676delGAG	ENST00000290552.7	+	5	2116_2118	c.784_786delGAG	c.(784-786)gagdel	p.E268del	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	268						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						CCTggaggaagaggaggaggagg	0.626													7	71	---	---	---	---					
RP11-863P13.2	0	broad.mit.edu	37	16	88226895	88226897	+	RNA	DEL	TGG	TGG	-	rs62047004		TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr16:88226895_88226897delTGG	ENST00000568587.1	-	0	91																											gtggtggagatggtggtggtggg	0.537													4	5	---	---	---	---					
LINC00469	283982	broad.mit.edu	37	17	71754148	71754151	+	RNA	DEL	CCTT	CCTT	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr17:71754148_71754151delCCTT	ENST00000321800.7	-	0	303																											ccctcccctcccttcccttcccct	0.569													2	4	---	---	---	---					
COL18A1	80781	broad.mit.edu	37	21	46913126	46913126	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DK-A3IQ-01A-31D-A20D-08	TCGA-DK-A3IQ-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3da3cc2-2299-4a3e-9de8-7a1d0a10345d	a35775c2-b069-4eb4-8b54-631a4d99907d	g.chr21:46913126delC	ENST00000359759.4	+	24	3530	c.3509delC	c.(3508-3510)tccfs	p.S1170fs	COL18A1_ENST00000459895.1_3'UTR|COL18A1_ENST00000400337.2_Frame_Shift_Del_p.S755fs|COL18A1_ENST00000355480.5_Frame_Shift_Del_p.S935fs			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1170	Triple-helical region 5 (COL5).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GAACGAGGCTCCCCGGGACCC	0.672													2	4	---	---	---	---					
