Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
DHRS4	10901	broad.mit.edu	37	14	24475192	24475192	+	Missense_Mutation	SNP	A	C	C			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr14:24475192A>C	uc001wlc.4	+	7	853	c.820A>C	c.(820-822)Acc>Ccc	p.T274P	DHRS4_uc021rrd.1_Intron|DHRS4_uc021rrf.1_Intron|DHRS4_uc001wld.4_3'UTR|DHRS4_uc001wle.4_Missense_Mutation_p.T188P|DHRS4_uc021rrb.1_3'UTR|DHRS4_uc021rrc.1_3'UTR|DHRS4_uc021rre.1_3'UTR|DHRS4_uc001wli.4_3'UTR|DHRS4_uc010alb.3_Missense_Mutation_p.T129P	NM_021004	NP_066284	Q9BTZ2	DHRS4_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 4 (DHRS4), mRNA.	274						mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	GGGTGGAGGAACCCCGTCCCG	0.602000														37			10		0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31540710	31540710	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:31540710G>A	uc001rkh.1	-	22	3908	c.3757C>T	c.(3757-3759)Ctc>Ttc	p.L1253F	DENND5B_uc001rki.1_Missense_Mutation_p.L1218F	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	1218	RUN 2.					integral to membrane		p.R1252*(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CACTGTGGGAGCAGGCGATCC	0.517000														84			57		0	0	1	0	0
SLC6A19	340024	broad.mit.edu	37	5	1214087	1214087	+	Missense_Mutation	SNP	C	T	T	rs148139045	by1000genomes	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr5:1214087C>T	uc003jbw.4	+	5	850	c.794C>T	c.(793-795)cCg>cTg	p.P265L		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	265					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGGCCCAGCCGGACACCTGG	0.657000														45			61		0	0	1	0	0
GNG7	2788	broad.mit.edu	37	19	2515020	2515020	+	Nonstop_Mutation	SNP	T	A	A			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr19:2515020T>A	uc002lwd.2	-	4	444	c.207A>T	c.(205-207)taA>taT	p.*69Y		NM_052847	NP_443079	O60262	GBG7_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 7 (GNG7), mRNA.	0					G-protein coupled receptor protein signaling pathway|cellular response to glucagon stimulus|energy reserve metabolic process|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity	p.L68V(1)		central_nervous_system(2)|large_intestine(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAGAACACAGTTATAAAATAA	0.478000														42			7		0	0	1	0	0
SLC1A3	6507	broad.mit.edu	37	5	36680556	36680556	+	Missense_Mutation	SNP	G	A	A	rs115702388	byFrequency	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr5:36680556G>A	uc003jkj.4	+	7	1630	c.1154G>A	c.(1153-1155)cGc>cAc	p.R385H	SLC1A3_uc011cox.2_Missense_Mutation_p.R278H|SLC1A3_uc010iuy.3_Missense_Mutation_p.R385H	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	385					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	GTGGACAAGCGCGTCACCAGA	0.522000														52			44		0	0	1	0	0
ATP13A3	79572	broad.mit.edu	37	3	194158061	194158061	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr3:194158061C>T	uc003fty.4	-	17	2380	c.1978G>A	c.(1978-1980)Ggt>Agt	p.G660S	ATP13A3_uc003ftz.1_Missense_Mutation_p.G366S	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	660					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TTACAGAGACCGGCAATGGCC	0.443000														72			3		0	0	1	0	0
RAPGEF6	51735	broad.mit.edu	37	5	131008278	131008278	+	Missense_Mutation	SNP	T	A	A			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr5:131008278T>A	uc003kvs.1	-	13	2001	c.1859A>T	c.(1858-1860)cAa>cTa	p.Q620L	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Missense_Mutation_p.Q592L|RAPGEF6_uc010jdm.1_Missense_Mutation_p.Q575L	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	584					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|Ras GTPase binding|guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		CTCTACATTTTGCCCAAGGAG	0.373000														97			79		0	0	1	0	0
GRIN3A	116443	broad.mit.edu	37	9	104432589	104432589	+	Missense_Mutation	SNP	C	A	A			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr9:104432589C>A	uc004bbp.2	-	2	2706	c.2105G>T	c.(2104-2106)gGt>gTt	p.G702V	GRIN3A_uc004bbq.1_Missense_Mutation_p.G702V	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	702					response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GGGAGTCAAACCAAATGGACT	0.473000														5			33		1.74807e-11	1.91455e-11	1	1	0
HNRNPF	3185	broad.mit.edu	37	10	43882268	43882268	+	Missense_Mutation	SNP	T	A	A			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr10:43882268T>A	uc009xmh.1	-	2	1552	c.1065A>T	c.(1063-1065)agA>agT	p.R355S	HNRNPF_uc001jar.2_Missense_Mutation_p.R355S|HNRNPF_uc001jas.2_Missense_Mutation_p.R355S|HNRNPF_uc001jat.2_Missense_Mutation_p.R355S|HNRNPF_uc001jav.2_Missense_Mutation_p.R355S|HNRNPF_uc001jau.2_Missense_Mutation_p.R355S|HNRNPF_uc021ppg.1_Missense_Mutation_p.R355S|HNRNPF_uc010qfa.1_5'UTR	NM_001098208	NP_004957	P52597	HNRPF_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein F (HNRNPF), transcript variant 1, mRNA.	355	Interaction with RNA.|RRM 3.				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						GTTCTATATATCTGTGCTGCA	0.517000														140			34		0	0	1	0	0
UGGT1	56886	broad.mit.edu	37	2	128945096	128945096	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr2:128945096A>G	uc002tps.3	+	39	4728	c.4550A>G	c.(4549-4551)gAc>gGc	p.D1517G	UGGT1_uc002tpr.3_Missense_Mutation_p.D1493G	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	1517	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	ER-Golgi intermediate compartment|endoplasmic reticulum lumen	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAGGACTACGACCAAGAGATC	0.478000														68			4		0	0	1	0	0
CELSR3	1951	broad.mit.edu	37	3	48681698	48681698	+	Missense_Mutation	SNP	G	A	A			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr3:48681698G>A	uc003cuf.1	-	28	8407	c.8407C>T	c.(8407-8409)Cgc>Tgc	p.R2803C	CELSR3_uc010hkf.3_5'Flank|CELSR3_uc010hkg.3_Missense_Mutation_p.R689C|CELSR3_uc003cul.3_Missense_Mutation_p.R2706C|CELSR3_uc021wxq.1_Non-coding_Transcript	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2706					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding|protein binding	p.G2803R(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGGATGTGCGGGCAGCGAGG	0.622000														44			15		0	0	1	0	0
ACSS3	79611	broad.mit.edu	37	12	81503375	81503375	+	Silent	SNP	C	T	T			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:81503375C>T	uc001szl.1	+	1	439	c.348C>T	c.(346-348)gcC>gcT	p.A116A	ACSS3_uc001szm.1_Silent_p.A115A	NM_024560	NP_078836	Q9H6R3	ACSS3_HUMAN	Homo sapiens acyl-CoA synthetase short-chain family member 3 (ACSS3), mRNA.	116						mitochondrion	ATP binding|acetate-CoA ligase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GTTACAATGCCGTTGATCGTC	0.328000														230			4		0	0	1	0	0
HSD11B2	3291	broad.mit.edu	37	16	67470735	67470735	+	Missense_Mutation	SNP	C	A	A			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr16:67470735C>A	uc002etd.3	+	4	1163	c.1047C>A	c.(1045-1047)ttC>ttA	p.F349L		NM_000196	NP_000187	P80365	DHI2_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 2 (HSD11B2), mRNA.	349					glucocorticoid biosynthetic process	endoplasmic reticulum|microsome				breast(1)|endometrium(1)|liver(2)|lung(3)|upper_aerodigestive_tract(1)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0401)|Epithelial(162;0.0891)	NADH(DB00157)	TCATGTACTTCATCCACTACT	0.647000														66			45		1.21353e-23	1.39556e-23	1	1	0
DPM3	54344	broad.mit.edu	37	1	155112594	155112594	+	Silent	SNP	C	A	A			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr1:155112594C>A	uc001fhm.3	-	0	290	c.213G>T	c.(211-213)ctG>ctT	p.L71L	DPM3_uc001fhn.3_Silent_p.L41L	NM_018973	NP_714963	Q9P2X0	DPM3_HUMAN	Homo sapiens dolichyl-phosphate mannosyltransferase polypeptide 3 (DPM3), transcript variant 1, mRNA.	41					C-terminal protein lipidation|GPI anchor biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|protein C-linked glycosylation via 2'-alpha-mannosyl-L-tryptophan|protein N-linked glycosylation via asparagine|protein O-linked mannosylation|regulation of protein stability	dolichol-phosphate-mannose synthase complex|integral to endoplasmic reticulum membrane	protein binding			endometrium(2)	2	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGTAGGCGGGCAGTGGCCACA	0.662000														32			5		0.000602214	0.000629588	1	1	0
GLS	2744	broad.mit.edu	37	2	191765397	191765397	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr2:191765397C>T	uc002usf.2	+	3	977	c.713C>T	c.(712-714)gCt>gTt	p.A238V	GLS_uc002use.2_Missense_Mutation_p.A238V	NM_014905	NP_055720	O94925	GLSK_HUMAN	Homo sapiens glutaminase (GLS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	238					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TATGAAAGTGCTAAAAAGCAG	0.328000														40			3		0	0	1	0	0
C12orf35	55196	broad.mit.edu	37	12	32136955	32136955	+	Silent	SNP	T	A	A			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:32136955T>A	uc001rks.3	+	3	3480	c.3066T>A	c.(3064-3066)ccT>ccA	p.P1022P		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	1022										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			ATATTTACCCTCAGGAAATAG	0.433000														42			41		0	0	1	0	0
USH2A	7399	broad.mit.edu	37	1	215953292	215953292	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr1:215953292C>T	uc001hku.1	-	54	11219	c.10832G>A	c.(10831-10833)aGt>aAt	p.S3611N		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3611	Fibronectin type-III 21.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCAGGGACACTCCAGCTCAG	0.532000										HNSCC(13;0.011)				88			3		0	0	1	0	0
ABCE1	6059	broad.mit.edu	37	4	146044440	146044440	+	Missense_Mutation	SNP	A	G	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:146044440A>G	uc003ijx.3	+	14	1888	c.1448A>G	c.(1447-1449)tAt>tGt	p.Y483C	ABCE1_uc003ijy.3_Missense_Mutation_p.Y483C|ABCE1_uc010iot.3_Non-coding_Transcript	NM_001040876	NP_002931	P61221	ABCE1_HUMAN	Homo sapiens ATP-binding cassette, sub-family E (OABP), member 1 (ABCE1), transcript variant 2, mRNA.	483	ABC transporter 2.				RNA catabolic process|interspecies interaction between organisms|response to virus	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GCTGATGTCTATTTAATTGAT	0.423000														146			140		0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82579610	82579610	+	Missense_Mutation	SNP	C	T	T			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr7:82579610C>T	uc003uhx.2	-	5	10583	c.10294G>A	c.(10294-10296)Gat>Aat	p.D3432N	PCLO_uc003uhv.2_Missense_Mutation_p.D3432N|PCLO_uc010lec.3_Missense_Mutation_p.D397N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3363					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CGGGGATCATCTGTCATATTT	0.418000														180			4		0	0	1	0	0
CTSF	8722	broad.mit.edu	37	11	66335107	66335107	+	Silent	SNP	C	T	T			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr11:66335107C>T	uc001oip.3	-	2	429	c.339G>A	c.(337-339)gaG>gaA	p.E113E		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	Homo sapiens cathepsin F (CTSF), mRNA.	113					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GTCTTCCGAGCTCATCCAGGA	0.612000														34			3		0	0	1	0	0
NIN	51199	broad.mit.edu	37	14	51196406	51196406	+	Silent	SNP	C	T	T	rs145555295		TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr14:51196406C>T	uc001wyi.3	-	28	6104	c.5913G>A	c.(5911-5913)ccG>ccA	p.P1971P	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Silent_p.P1971P|NIN_uc001wyk.3_Silent_p.P1258P|NIN_uc001wyo.3_Silent_p.P1971P|NIN_uc001wyn.3_Non-coding_Transcript	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1971					centrosome localization	centrosome|microtubule	GTP binding|calcium ion binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CATGAGGGGACGGGCTAGGCG	0.597000			T	PDGFRB	MPD									67			52		0	0	1	0	0
ENO1	2023	broad.mit.edu	37	1	8922983	8922983	+	Nonsense_Mutation	SNP	G	A	A			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr1:8922983G>A	uc001apj.2	-	10	1720	c.1198C>T	c.(1198-1200)Cga>Tga	p.R400*	ENO1_uc001api.2_Nonsense_Mutation_p.R307*	NM_001428	NP_001188412	P06733	ENOA_HUMAN	Homo sapiens enolase 1, (alpha) (ENO1), transcript variant 1, mRNA.	400					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CGCTCAGATCGGCAAGGGGCA	0.562000											OREG0013068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		38			3		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117954	117954	+	RNA	SNP	C	A	A			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chrGL000205.1:117954C>A	uc002kgk.4	+	0		c.1332C>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		CTTGTGAACGCAGCCCGTGGT	0.527000														60			5		0.00198382	0.00198382	1	1	0
ACTR3BP2	440888	broad.mit.edu	37	2	92129663	92129663	+	Frame_Shift_Del	DEL	T	-	-			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr2:92129663delT	uc010yuc.2	+	0	505	c.454delT	c.(454-456)tttfs	p.F152fs						Homo sapiens ARP3 actin-related protein 3 homolog B (yeast) pseudogene 2 (ACTR3BP2), non-coding RNA.																		ACCTGAAATATTTTTTTACCC	0.388													---	4	---	---	2	---					
GAL3ST2	64090	broad.mit.edu	37	2	242743069	242743070	+	Frame_Shift_Del	DEL	CA	-	-			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr2:242743069_242743070delCA	uc002wcj.1	+	3	816_817	c.685_686delCA	c.(685-687)cacfs	p.H229fs		NM_022134	NP_071417	Q9H3Q3	G3ST2_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 2 (GAL3ST2), mRNA.	229	Arg-rich.				biosynthetic process	Golgi cisterna membrane|integral to membrane	galactosylceramide sulfotransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CATCGCCGAGCACCTGGACGAG	0.733													---	4	---	---	2	---					
FAT1	2195	broad.mit.edu	37	4	187584589	187584589	+	Frame_Shift_Del	DEL	G	-	-			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr4:187584589delG	uc003izf.3	-	2	3632	c.3444delC	c.(3442-3444)atcfs	p.I1148fs		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	1148	Cadherin 10.				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						AATTTTCCATGATTTCTGGGT	0.413										HNSCC(5;0.00058)			---	114	---	---	90	---					
NKD2	85409	broad.mit.edu	37	5	1038447	1038461	+	In_Frame_Del	DEL	CACCACCACCACCAC	-	-	rs3840989	by1000genomes	TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr5:1038447_1038461delCACCACCACCACCAC	uc003jbt.1	+	9	1320_1334	c.1315_1329delCACCACCACCACCAC	c.(1315-1329)caccaccaccaccacdel	p.HHHHH439del	NKD2_uc010itf.1_3'UTR	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	Homo sapiens naked cuticle homolog 2 (Drosophila) (NKD2), mRNA.	439	His-rich.				Wnt receptor signaling pathway|exocytosis	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	p.E438delE(1)		breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccaccaccaccaccacc	0.688													---	4	---	---	2	---					
NDST2	8509	broad.mit.edu	37	10	75563396	75563397	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr10:75563396_75563397insG	uc001jvk.2	-	10	2881_2882	c.2077_2078insC	c.(2077-2079)ctgfs	p.L693fs	NDST2_uc010qks.1_Frame_Shift_Ins_p.L319fs|NDST2_uc010qkt.1_Frame_Shift_Ins_p.L570fs|NDST2_uc001jvl.1_Frame_Shift_Ins_p.L100fs|NDST2_uc009xro.2_Frame_Shift_Ins_p.L319fs|NDST2_uc010qku.1_Frame_Shift_Ins_p.L568fs	NM_003635	NP_003626	P52849	NDST2_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 2 (NDST2), mRNA.	693	Heparan sulfate N-sulfotransferase 2.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	30	Prostate(51;0.0112)					GGCTCGTGGCAGGAGGGCAGCC	0.535													---	169	---	---	7	---					
LOC100288778	100288778	broad.mit.edu	37	12	90833	90834	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:90833_90834insG	uc010scy.2	+	9	1254_1255	c.699_700insG	c.(697-702)cccggafs	p.P233fs	LOC100288778_uc010scz.2_Non-coding_Transcript|LOC100288778_uc010sdd.2_3'UTR|LOC100288778_uc010sde.2_Frame_Shift_Ins_p.P233fs|LOC100288778_uc010sdf.2_Frame_Shift_Ins_p.P233fs|LOC100288778_uc010sdg.2_Frame_Shift_Ins_p.P233fs|LOC100288778_uc010sdh.2_Non-coding_Transcript					Homo sapiens WAS protein family homolog 1 pseudogene (LOC100288778), non-coding RNA.																		GTGAGGGGCCCGGAGGAGCCTT	0.653													---	123	---	---	7	---					
RECQL	5965	broad.mit.edu	37	12	21623272	21623272	+	Frame_Shift_Del	DEL	C	-	-			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:21623272delC	uc001rex.3	-	15	2154	c.1806delG	c.(1804-1806)tcgfs	p.S602fs	RECQL_uc001rey.3_Frame_Shift_Del_p.S602fs|PYROXD1_uc001rew.3_3'UTR|PYROXD1_uc009ziq.3_3'UTR	NM_032941	NP_116559	P46063	RECQ1_HUMAN	Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA.	602					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						AAGTTTGAGACGATTCAGCCT	0.333								Other identified genes with known or suspected DNA repair function					---	278	---	---	7	---					
HVCN1	84329	broad.mit.edu	37	12	111099110	111099112	+	In_Frame_Del	DEL	CTC	-	-			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr12:111099110_111099112delCTC	uc001trs.1	-	3	328_330	c.163_165delGAG	c.(163-165)gagdel	p.E55del	HVCN1_uc001trq.1_In_Frame_Del_p.E55del|HVCN1_uc001trt.1_In_Frame_Del_p.E55del|HVCN1_uc010syd.1_In_Frame_Del_p.E35del	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.	55	Poly-Glu.				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GTGGTGGCTGctcctcctcctcc	0.606													---	113	---	---	7	---					
UNC13C	440279	broad.mit.edu	37	15	54527276	54527276	+	Frame_Shift_Del	DEL	A	-	-			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr15:54527276delA	uc021smr.1	+	3	3120	c.3120delA	c.(3118-3120)agafs	p.R1040fs	UNC13C_uc021sms.1_Frame_Shift_Del_p.R1040fs	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1040					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.R1039G(1)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATCTTCGCAGAAAAAAAACTT	0.368													---	243	---	---	7	---					
LOC100506874	100506874	broad.mit.edu	37	15	85121557	85121557	+	RNA	DEL	A	-	-			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr15:85121557delA	uc021stt.1	+	3		c.825delA			LOC100506874_uc021stu.1_Non-coding_Transcript|LOC100506874_uc002bko.2_Non-coding_Transcript					Homo sapiens uncharacterized LOC100506874 (LOC100506874), transcript variant 2, non-coding RNA.																		TTCTTGCCTTAAAAAAAAAAA	0.279													---	4	---	---	2	---					
ERCC4	2072	broad.mit.edu	37	16	14041910	14041911	+	Frame_Shift_Ins	INS	-	A	A			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr16:14041910_14041911insA	uc002dce.2	+	10	2466_2467	c.2457_2458insA	c.(2455-2460)agcaagfs	p.S819fs	ERCC4_uc010uyz.1_Frame_Shift_Ins_p.S369fs	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	819	Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TGAAACAAAGCAAGCCACAGCC	0.515			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				---	118	---	---	7	---					
ABCC6	368	broad.mit.edu	37	16	16278826	16278827	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr16:16278826_16278827insG	uc002den.4	-	14	1969_1970	c.1932_1933insC	c.(1930-1935)ccctgcfs	p.P644fs	ABCC6_uc010bvo.3_Non-coding_Transcript|ABCC6_uc010uzz.1_Frame_Shift_Ins_p.P656fs	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	644	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)		CTGTGGAGGCAGGGAGGGCTTT	0.579													---	258	---	---	7	---					
MUC16	94025	broad.mit.edu	37	19	9054266	9054267	+	Frame_Shift_Ins	INS	-	G	G			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr19:9054266_9054267insG	uc002mkp.3	-	3	31559_31560	c.31355_31356insC	c.(31354-31356)cctfs	p.P10452fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10454	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGGATGTCTGAGGGCCTTTGAC	0.470													---	311	---	---	8	---					
SIGLEC8	27181	broad.mit.edu	37	19	51961617	51961619	+	In_Frame_Del	DEL	GCA	-	-			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chr19:51961617_51961619delGCA	uc002pwt.3	-	0	90_92	c.23_25delTGC	c.(22-27)ctgccc>ccc	p.L8del	SIGLEC8_uc010yda.2_In_Frame_Del_p.L8del|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_In_Frame_Del_p.L8del	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	8					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CAGagcaggggcagcagcagcag	0.596													---	191	---	---	7	---					
ATP6AP1	537	broad.mit.edu	37	X	153662709	153662745	+	Frame_Shift_Del	DEL	CCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	-	-			TCGA-KN-8436-01A-11D-2310-10	TCGA-KN-8436-11A-01D-2311-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f150a5ed-a759-488c-8e9f-ef78b544382a	eebc909a-ec85-460b-8c31-fa959090bf28	g.chrX:153662709_153662745delCCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	uc004flf.1	+	6	901_937	c.840_876delCCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTG	c.(838-876)gaccagtgggaggacctgactcccctcacctttggggtgfs	p.D280fs	ATP6AP1_uc004flg.1_Non-coding_Transcript|ATP6AP1_uc004flh.1_Frame_Shift_Del_p.D240fs|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.4_5'Flank	NM_001183	NP_001174	Q15904	VAS1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1 (ATP6AP1), mRNA.	280					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism	p.L288R(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGTACAAGGACCAGTGGGAGGACCTGACTCCCCTCACCTTTGGGGTGCAGGAACTCA	0.570													---	28	---	---	27	---					
