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
DGUOK	1716	broad.mit.edu	37	2	74184338	74184338	+	Silent	SNP	C	T	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:74184338C>T	uc002sjx.3	+	4	763	c.678C>T	c.(676-678)caC>caT	p.H226H	DGUOK_uc002sjy.3_Intron|DGUOK_uc002sjz.3_Intron	NM_080916	NP_550438	Q16854	DGUOK_HUMAN	Homo sapiens deoxyguanosine kinase (DGUOK), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	226					guanosine metabolic process|purine base metabolic process|purine deoxyribonucleoside metabolic process|purine-containing compound salvage	mitochondrial matrix	ATP binding|deoxyguanosine kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(1)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	8						ATGGCCAACACGAAGCCTGGC	0.478000														141			26		0	0	1	0	0
RING1	6015	broad.mit.edu	37	6	33180151	33180151	+	Missense_Mutation	SNP	A	G	G			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr6:33180151A>G	uc003odk.3	+	6	1390	c.1196A>G	c.(1195-1197)tAt>tGt	p.Y399C	RING1_uc003odl.3_Missense_Mutation_p.Y370C	NM_002931	NP_002922	Q06587	RING1_HUMAN	Homo sapiens ring finger protein 1 (RING1), mRNA.	399	Necessary for interaction with CBX2 (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex|cytoplasm|nuclear speck	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						GAGCTGTGCTATGCTCCCACC	0.577000														31			8		0	0	1	0	0
PPIL2	23759	broad.mit.edu	37	22	22049265	22049265	+	Nonsense_Mutation	SNP	G	T	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr22:22049265G>T	uc010gtj.1	+	18	1488	c.1372G>T	c.(1372-1374)Gag>Tag	p.E458*	PPIL2_uc002zvh.4_Nonsense_Mutation_p.E458*|PPIL2_uc002zvi.4_Nonsense_Mutation_p.E458*|PPIL2_uc002zvg.4_Nonsense_Mutation_p.E458*|PPIL2_uc011aij.2_Intron|PPIL2_uc002zvk.4_Nonsense_Mutation_p.E204*	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA.	458					blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					GGTAGCCCCGGAGACCAAAGT	0.642000														456			107		1.44786e-46	1.6216e-46	1	1	0
NDUFA4	4697	broad.mit.edu	37	7	10979660	10979660	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:10979660C>T	uc003srx.2	-	0	154	c.25G>A	c.(25-27)Gcc>Acc	p.A9T		NM_002489	NP_002480	O00483	NDUA4_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa (NDUFA4), nuclear gene encoding mitochondrial protein, mRNA.	9					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(2)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	NADH(DB00157)	TGCTTCTTGGCCTGACCGATG	0.552000														772			57		0	0	1	0	0
PCDHB2	56133	broad.mit.edu	37	5	140476009	140476009	+	Silent	SNP	C	T	T	rs147433427		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr5:140476009C>T	uc003lil.3	+	0	1773	c.1635C>T	c.(1633-1635)agC>agT	p.S545S	PCDHB2_uc003lim.1_Silent_p.S206S	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	545	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGTTGAGCAGCGAGGCGCTGG	0.706000														263			24		0	0	1	0	0
ZNF276	92822	broad.mit.edu	37	16	89789731	89789731	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr16:89789731C>T	uc002fos.4	+	3	717	c.620C>T	c.(619-621)gCg>gTg	p.A207V	C16orf7_uc002fom.1_5'Flank|ZNF276_uc010ciq.3_Missense_Mutation_p.R4W|ZNF276_uc002foq.4_Missense_Mutation_p.A132V|ZNF276_uc010cir.3_Non-coding_Transcript|ZNF276_uc002for.4_Missense_Mutation_p.R4W|ZNF276_uc010cis.3_5'UTR|ZNF276_uc002fot.4_Non-coding_Transcript|ZNF276_uc010vpm.2_Missense_Mutation_p.A45V|ZNF276_uc010cit.2_5'UTR	NM_001113525	NP_001106997	Q8N554	ZN276_HUMAN	Homo sapiens zinc finger protein 276 (ZNF276), transcript variant a, mRNA.	207					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CATGGACATGCGGCCAGCTGC	0.642000														303			67		0	0	1	0	0
FAT2	2196	broad.mit.edu	37	5	150911268	150911268	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr5:150911268C>T	uc003lue.4	-	12	9704	c.9691G>A	c.(9691-9693)Gcc>Acc	p.A3231T	FAT2_uc003lud.4_5'UTR	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3231	Cadherin 29.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGGTGGGGCGTCCTCGGGC	0.677000														179			35		0	0	1	0	0
DNAH3	55567	broad.mit.edu	37	16	21065824	21065824	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr16:21065824G>A	uc010vbe.2	-	27	3956	c.3956C>T	c.(3955-3957)gCg>gTg	p.A1319V		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1319	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.A1319A(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GACAATCTGCGCAATCTGATC	0.542000														201			58		0	0	1	0	0
SOX5	6660	broad.mit.edu	37	12	23728637	23728637	+	Missense_Mutation	SNP	G	C	C			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:23728637G>C	uc001rfw.3	-	9	1402	c.1300C>G	c.(1300-1302)Cca>Gca	p.P434A	SOX5_uc001rfx.3_Missense_Mutation_p.P421A|SOX5_uc001rfy.3_Intron|SOX5_uc001rfv.3_Missense_Mutation_p.P48A|SOX5_uc010siv.2_Missense_Mutation_p.P421A|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Missense_Mutation_p.P386A	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	434					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						AACGCTGCTGGGACAGAGGCT	0.483000														593			23		0	0	1	0	0
HYAL4	23553	broad.mit.edu	37	7	123508827	123508827	+	Nonsense_Mutation	SNP	C	G	G			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:123508827C>G	uc003vlc.3	+	2	1138	c.500C>G	c.(499-501)tCa>tGa	p.S167*	HYAL4_uc011knz.2_Nonsense_Mutation_p.S167*	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	167					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AGACAGAAGTCAAGAAAGCTT	0.408000														336			74		0	0	1	0	0
DHX16	8449	broad.mit.edu	37	6	30640601	30640601	+	Silent	SNP	A	C	C			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr6:30640601A>C	uc003nqz.3	-	0	230	c.18T>G	c.(16-18)ggT>ggG	p.G6G	DHX16_uc011dmo.2_Intron	NM_003587	NP_003578	O60231	DHX16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 16 (DHX16), transcript variant 1, mRNA.	6					RNA splicing|mRNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA helicase activity|nucleic acid binding	p.G6G(1)		kidney(2)|ovary(2)	4						AGCGCTCCAGACCCGCCGGCG	0.706000														145			15		0	0	1	0	0
TNPO3	23534	broad.mit.edu	37	7	128658021	128658021	+	Missense_Mutation	SNP	A	T	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:128658021A>T	uc010lly.2	-	1	714	c.311T>A	c.(310-312)aTt>aAt	p.I104N	TNPO3_uc003vol.2_Missense_Mutation_p.I104N|TNPO3_uc010llz.2_Missense_Mutation_p.I104N|TNPO3_uc003vom.2_Missense_Mutation_p.I38N	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.	104					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CTGCGTTACAATAACAGGTGA	0.408000														198			44		0	0	1	0	0
SCFD2	152579	broad.mit.edu	37	4	54231749	54231749	+	Silent	SNP	C	T	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr4:54231749C>T	uc003gzu.3	-	0	494	c.360G>A	c.(358-360)gcG>gcA	p.A120A	SCFD2_uc010igm.3_Silent_p.A120A	NM_152540	NP_689753	Q8WU76	SCFD2_HUMAN	Homo sapiens sec1 family domain containing 2 (SCFD2), mRNA.	120	Poly-Ala.				protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CCGCTGCCGCCGCTGGGACAT	0.592000														193			57		0	0	1	0	0
ECEL1	9427	broad.mit.edu	37	2	233351013	233351013	+	Silent	SNP	G	A	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:233351013G>A	uc002vsv.2	-	1	556	c.351C>T	c.(349-351)gaC>gaT	p.D117D	ECEL1_uc010fya.1_Silent_p.D117D|ECEL1_uc010fyb.1_5'UTR	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	117					neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		CGATGCTGGCGTCCAGGTTGG	0.726000														57			11		0	0	1	0	0
LOC440518	440518	broad.mit.edu	37	19	22780172	22780172	+	RNA	SNP	C	A	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr19:22780172C>A	uc002nqu.4	+	1		c.250C>A								Homo sapiens golgin A2 pseudogene (LOC440518), non-coding RNA.																		CCGAGACAACCACTTCTGGTG	0.507000														207			63		6.75472e-32	7.27432e-32	1	1	0
IL2RA	3559	broad.mit.edu	37	10	6067953	6067953	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:6067953C>T	uc001iiz.2	-	1	319	c.100G>A	c.(100-102)Gcc>Acc	p.A34T	IL2RA_uc009xih.2_Missense_Mutation_p.A34T|IL2RA_uc001ija.1_5'UTR	NM_000417	NP_000408	P01589	IL2RA_HUMAN	Homo sapiens interleukin 2 receptor, alpha (IL2RA), mRNA.	34	Sushi 1.				cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TTGAATGTGGCGTGTGGGATC	0.478000														248			56		0	0	1	0	0
U2AF2	11338	broad.mit.edu	37	19	56171880	56171880	+	Splice_Site	SNP	A	C	C			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr19:56171880A>C	uc002qlu.3	+	4	1286	c.231_splice	c.e4-2	p.I77_splice	U2AF2_uc002qlt.3_Splice_Site_p.I77_splice	NM_007279	NP_009210	P26368	U2AF2_HUMAN	Homo sapiens U2 small nuclear RNA auxiliary factor 2 (U2AF2), transcript variant 1, mRNA.	77					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	RNA binding|enzyme binding|nucleotide binding	p.?(2)		biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CACCTCCCCCAGTCGTTCCCC	0.637000														72			8		0	0	1	0	0
RAB6B	51560	broad.mit.edu	37	3	133560230	133560230	+	Missense_Mutation	SNP	C	G	G			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:133560230C>G	uc003epy.3	-	3	569	c.188G>C	c.(187-189)cGa>cCa	p.R63P	RAB6B_uc011blu.1_Missense_Mutation_p.R50P	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN	Homo sapiens RAB6B, member RAS oncogene family (RAB6B), mRNA.	63					protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	Golgi membrane|cytoplasmic membrane-bounded vesicle	GTP binding|GTPase activity|protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						GAGCTGCAGTCGCACCTGTCT	0.647000														274			56		0	0	1	0	0
THSD1P1	374500	broad.mit.edu	37	13	52803481	52803481	+	RNA	SNP	A	C	C			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr13:52803481A>C	uc001vgn.3	-	3		c.343T>G			THSD1P1_uc001vgm.1_Non-coding_Transcript					Homo sapiens mRNA; cDNA DKFZp434F1622 (from clone DKFZp434F1622).																		ATAAATAACGAATCTTTTTAT	0.363000														36			3		0	0	1	0	0
KIF26B	55083	broad.mit.edu	37	1	245850589	245850589	+	Missense_Mutation	SNP	T	A	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:245850589T>A	uc001ibf.1	+	11	4744	c.4304T>A	c.(4303-4305)aTg>aAg	p.M1435K	KIF26B_uc001ibg.1_Missense_Mutation_p.M1053K|KIF26B_uc001ibh.1_Missense_Mutation_p.M677K	NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	1435					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AAGAAAGAGATGAAATTTGAG	0.552000														53			12		0	0	1	0	0
GMPPA	29926	broad.mit.edu	37	2	220371072	220371072	+	Missense_Mutation	SNP	G	T	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:220371072G>T	uc002vlv.3	+	11	1465	c.1090G>T	c.(1090-1092)Gat>Tat	p.D364Y	GMPPA_uc002vlr.3_Missense_Mutation_p.D364Y	NM_205847	NP_995319	Q96IJ6	GMPPA_HUMAN	Homo sapiens GDP-mannose pyrophosphorylase A (GMPPA), transcript variant 2, mRNA.	364					GDP-mannose biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TAACCCCAACGATCCCCGAGC	0.657000														292			70		7.75977e-34	8.4652e-34	1	1	0
LOC441666	441666	broad.mit.edu	37	10	42832122	42832122	+	RNA	SNP	C	T	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:42832122C>T	uc010qey.2	-	2		c.1853G>A								Homo sapiens zinc finger protein 91 pseudogene (LOC441666), non-coding RNA.																		CAGTAAAAGGCTTTGCCACAT	0.348000														48			4		0	0	1	0	0
FCGBP	8857	broad.mit.edu	37	19	40367841	40367841	+	Silent	SNP	T	G	G			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr19:40367841T>G	uc002omp.4	-	28	13127	c.13119A>C	c.(13117-13119)gcA>gcC	p.A4373A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4373	TIL 10.					extracellular region	protein binding	p.A4373A(4)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTAAGGGGTGCAGGGGACG	0.627000														123			52		0	0	1	0	0
MPZL1	9019	broad.mit.edu	37	1	167734835	167734835	+	Missense_Mutation	SNP	C	T	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:167734835C>T	uc001geo.3	+	1	309	c.107C>T	c.(106-108)tCa>tTa	p.S36L	MPZL1_uc001gen.4_Missense_Mutation_p.S36L|MPZL1_uc001gep.3_Missense_Mutation_p.S36L|MPZL1_uc001geq.3_Missense_Mutation_p.S36L|MPZL1_uc009wvh.3_Non-coding_Transcript	NM_003953	NP_003944	O95297	MPZL1_HUMAN	Homo sapiens myelin protein zero-like 1 (MPZL1), transcript variant 1, mRNA.	36	Ig-like V-type.				cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					GCTGGAGTATCAGCCTTGGAA	0.433000														198			41		0	0	1	0	0
PTPRE	5791	broad.mit.edu	37	10	129847884	129847884	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:129847884G>A	uc009yat.3	+	6	824	c.407G>A	c.(406-408)cGt>cAt	p.R136H	PTPRE_uc001lkb.3_Missense_Mutation_p.R125H|PTPRE_uc010qup.1_Non-coding_Transcript|PTPRE_uc009yau.2_Missense_Mutation_p.R125H|PTPRE_uc001lkc.1_Non-coding_Transcript|PTPRE_uc001lkd.3_Missense_Mutation_p.R67H|PTPRE_uc010quq.1_Missense_Mutation_p.R26H	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	125	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GAGGAGATCCGTATCAGATCC	0.587000														319			69		0	0	1	0	0
USP13	8975	broad.mit.edu	37	3	179472528	179472528	+	Missense_Mutation	SNP	A	G	G			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:179472528A>G	uc003fkh.3	+	14	1888	c.1807A>G	c.(1807-1809)Att>Gtt	p.I603V		NM_003940	NP_003931	Q92995	UBP13_HUMAN	Homo sapiens ubiquitin specific peptidase 13 (isopeptidase T-3) (USP13), mRNA.	603					ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			AGATGTTTCTATTGATATGCC	0.443000														512			14		0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161529826	161529826	+	Silent	SNP	T	C	C			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr6:161529826T>C	uc003qtn.3	+	21	4313	c.4171T>C	c.(4171-4173)Ttg>Ctg	p.L1391L	MAP3K4_uc010kkc.1_Silent_p.L1387L|MAP3K4_uc003qto.3_Silent_p.L1341L|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Silent_p.L844L|MAP3K4_uc003qtp.3_Silent_p.L327L|MAP3K4_uc003qtq.3_Silent_p.L80L	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	1391	Protein kinase.				JNK cascade|activation of MAPKK activity|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TGCAGACGAATTGAAAATATT	0.408000														410			119		0	0	1	0	0
TGFBR1	7046	broad.mit.edu	37	9	101911535	101911535	+	Missense_Mutation	SNP	G	A	A	rs113605875		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr9:101911535G>A	uc004azc.3	+	8	1536	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	TGFBR1_uc004azd.3_Missense_Mutation_p.R410Q|TGFBR1_uc004aze.3_Missense_Mutation_p.R491Q|TGFBR1_uc011lvc.2_Missense_Mutation_p.R418Q	NM_004612	NP_004603	P36897	TGFR1_HUMAN	Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 1, mRNA.	487	Protein kinase.		R -> P (in LDS1A and LDS2A).|R -> Q (in LDS2A and AAT5).|R -> W (in LDS2A).		activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of SMAD protein import into nucleus|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding	p.R487W(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ACAGCATTGCGGATTAAGAAA	0.373000														111			37		0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16946438	16946438	+	RNA	SNP	G	A	A	rs28392876	by1000genomes	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:16946438G>A	uc010ocf.2	-	2		c.460C>T			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		GCCTTCCGCCGGGCCAGCAGC	0.672000														125			6		0	0	1	0	0
RPF2	84154	broad.mit.edu	37	6	111346773	111346773	+	Silent	SNP	T	A	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr6:111346773T>A	uc003pun.3	+	9	928	c.909T>A	c.(907-909)atT>atA	p.I303I	RPF2_uc003puo.3_Silent_p.I240I	NM_032194	NP_115570	Q9H7B2	RPF2_HUMAN	Homo sapiens ribosome production factor 2 homolog (S. cerevisiae) (RPF2), mRNA.	303						nucleolus	protein binding	p.I303I(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|ovary(2)	7						CAAAAAGAATTAAAAAAAATT	0.368000														72			11		0	0	1	0	0
LOC441666	441666	broad.mit.edu	37	10	42832147	42832147	+	RNA	SNP	G	T	T	rs144592176	by1000genomes	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:42832147G>T	uc010qey.2	-	2		c.1828C>A								Homo sapiens zinc finger protein 91 pseudogene (LOC441666), non-coding RNA.																		CACAATTGTAGGGTTTCTCTC	0.353000														43			9		2.80697e-09	2.91094e-09	1	1	0
DCHS2	54798	broad.mit.edu	37	4	155176731	155176731	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr4:155176731G>A	uc003inw.2	-	20	5516	c.5516C>T	c.(5515-5517)gCa>gTa	p.A1839V		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1839	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACCACTCAGTGCATCAATCTG	0.458000														138			26		0	0	1	0	0
B4GALNT2	124872	broad.mit.edu	37	17	47246916	47246916	+	Silent	SNP	C	A	A	rs148956387	byFrequency	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr17:47246916C>A	uc002ion.2	+	10	1586	c.1527C>A	c.(1525-1527)ctC>ctA	p.L509L	B4GALNT2_uc010wlt.1_Silent_p.L423L|B4GALNT2_uc010wlu.1_Silent_p.L449L	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	509					UDP-N-acetylgalactosamine metabolic process|lipid glycosylation|negative regulation of cell-cell adhesion	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			GGACCCTACTCGTGGGGTCAT	0.522000														365			83		2.88734e-31	3.07008e-31	1	1	0
RPL23AP32	56969	broad.mit.edu	37	2	54756736	54756736	+	Missense_Mutation	SNP	T	C	C			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:54756736T>C	uc010yot.1	+	0	378	c.254T>C	c.(253-255)tTt>tCt	p.F85S	SPTBN1_uc002rxu.3_Intron|SPTBN1_uc002rxv.1_Intron					Homo sapiens ribosomal protein L23a pseudogene 32 (RPL23AP32), non-coding RNA.																		ACCACTGAGTTTGCCATGAAG	0.483000														184			7		0	0	1	0	0
SDHAP1	255812	broad.mit.edu	37	3	195717061	195717061	+	Splice_Site	SNP	C	A	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:195717061C>A	uc011btq.1	-	1	90	c.-539_splice	c.e1+1		SDHAP1_uc003fvx.3_Splice_Site|SDHAP1_uc011btp.1_Splice_Site					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1 (SDHAP1), non-coding RNA.																		AGGGACTCACCGCCTTGGCCA	0.791000														12			5		0.000602214	0.000602214	1	1	0
LONRF3	79836	broad.mit.edu	37	X	118140187	118140187	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chrX:118140187G>A	uc004eqw.3	+	5	1550	c.1519G>A	c.(1519-1521)Ggt>Agt	p.G507S	LONRF3_uc004eqx.3_Missense_Mutation_p.G466S|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_Missense_Mutation_p.G251S	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.	507					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						GTGCAAAGACGGTCTTTCACA	0.368000														369			199		0	0	1	0	0
LNX2	222484	broad.mit.edu	37	13	28127529	28127529	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr13:28127529G>A	uc001url.4	-	7	1903	c.1594C>T	c.(1594-1596)Cac>Tac	p.H532Y	LNX2_uc001urm.1_Missense_Mutation_p.H532Y	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Homo sapiens ligand of numb-protein X 2 (LNX2), mRNA.	532	PDZ 3.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		GCCTCACTGTGACTTAAATTG	0.473000														311			62		0	0	1	0	0
CTNNB1	1499	broad.mit.edu	37	3	41277892	41277892	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:41277892G>A	uc010hia.1	+	12	2012	c.1856G>A	c.(1855-1857)tGt>tAt	p.C619Y	CTNNB1_uc003ckq.2_Missense_Mutation_p.C619Y|CTNNB1_uc003ckp.2_Missense_Mutation_p.C619Y|CTNNB1_uc003ckr.2_Missense_Mutation_p.C619Y|CTNNB1_uc011azf.1_Missense_Mutation_p.C612Y|CTNNB1_uc011azg.1_Missense_Mutation_p.C547Y|CTNNB1_uc003cks.3_3'UTR|CTNNB1_uc003ckt.1_Missense_Mutation_p.C54Y	NM_001904	NP_001895	P35222	CTNB1_HUMAN	Homo sapiens catenin (cadherin-associated protein), beta 1, 88kDa (CTNNB1), transcript variant 1, mRNA.	619					Schwann cell proliferation|T cell differentiation in thymus|adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of T cell proliferation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|Z disc|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|zonula adherens	I-SMAD binding|R-SMAD binding|RPTP-like protein binding|alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|ion channel binding|protein C-terminus binding|protein binding|protein kinase binding|protein phosphatase binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding	p.C619Y(2)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GGGGTCCTCTGTGAACTTGCT	0.438000		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of					538			115		0	0	1	0	0
GDI2	2665	broad.mit.edu	37	10	5808002	5808002	+	Silent	SNP	C	T	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:5808002C>T	uc009xid.3	-	11	1679	c.1317G>A	c.(1315-1317)aaG>aaA	p.K439K	GDI2_uc001iil.4_Silent_p.K435K|GDI2_uc001iim.4_Silent_p.K390K			P50395	GDIB_HUMAN	Homo sapiens GDP dissociation inhibitor 2 (GDI2), transcript variant 1, mRNA.	435					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	Rab GDP-dissociation inhibitor activity|protein binding			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						TCTTCTTGCGCTTCATTTCCT	0.348000														528			95		0	0	1	0	0
KIAA0907	22889	broad.mit.edu	37	1	155887393	155887393	+	Missense_Mutation	SNP	T	G	G			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:155887393T>G	uc001fmi.1	-	10	1361	c.1337A>C	c.(1336-1338)cAg>cCg	p.Q446P	KIAA0907_uc001fmj.1_Missense_Mutation_p.Q446P|KIAA0907_uc009wrl.1_Non-coding_Transcript	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	Homo sapiens KIAA0907 (KIAA0907), mRNA.	446	Pro-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggctgggg	0.567000														99			14		0	0	1	0	0
TXNRD1	7296	broad.mit.edu	37	12	104682725	104682725	+	Silent	SNP	G	A	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:104682725G>A	uc021rcx.1	+	3	343	c.321G>A	c.(319-321)ctG>ctA	p.L107L	TXNRD1_uc021rcy.1_Silent_p.L9L|TXNRD1_uc021rcz.1_5'UTR|TXNRD1_uc021rda.1_Intron|TXNRD1_uc021rdb.1_Intron|TXNRD1_uc010swp.2_5'UTR|TXNRD1_uc010swq.2_Silent_p.L7L|TXNRD1_uc001tku.3_Non-coding_Transcript|TXNRD1_uc001tkv.2_5'Flank	NM_001093771		Q16881	TRXR1_HUMAN	Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.	107	Glutaredoxin.				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	NADP binding|electron carrier activity|flavin adenine dinucleotide binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						GTCGGGCCCTGGAAGGAACGC	0.612000														505			92		0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	A	A	rs121913529		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:25398284C>A	uc001rgp.1	-	1	216	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_uc001rgq.1_Missense_Mutation_p.G12V|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348000	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				112			17		5.35267e-07	5.48322e-07	1	1	0
LIAS	11019	broad.mit.edu	37	4	39462521	39462521	+	Missense_Mutation	SNP	C	G	G			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr4:39462521C>G	uc003guf.3	+	1	230	c.157C>G	c.(157-159)Ctt>Gtt	p.L53V	RPL9_uc003gub.3_5'Flank|RPL9_uc003guc.3_5'Flank|RPL9_uc011byk.2_5'Flank|RPL9_uc011byl.1_5'Flank|RPL9_uc003gud.1_5'Flank|LIAS_uc003gue.4_Missense_Mutation_p.L53V|LIAS_uc011bym.2_Missense_Mutation_p.L53V|LIAS_uc003gug.3_Missense_Mutation_p.L53V	NM_006859	NP_006850	O43766	LIAS_HUMAN	Homo sapiens lipoic acid synthetase (LIAS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	53					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	ATCTGGTGATCTTGCAGACAG	0.403000														427			90		0	0	1	0	0
THSD1P1	374500	broad.mit.edu	37	13	52803480	52803480	+	RNA	SNP	G	T	T	rs142077571	by1000genomes	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr13:52803480G>T	uc001vgn.3	-	3		c.344C>A			THSD1P1_uc001vgm.1_Non-coding_Transcript					Homo sapiens mRNA; cDNA DKFZp434F1622 (from clone DKFZp434F1622).									p.F117L(1)									AATAAATAACGAATCTTTTTA	0.363000														36			3		6.4e-05	6.47711e-05	1	1	0
LPHN1	22859	broad.mit.edu	37	19	14262129	14262129	+	Silent	SNP	A	C	C			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr19:14262129A>C	uc010xnn.2	-	23	4277	c.3981T>G	c.(3979-3981)ggT>ggG	p.G1327G	LPHN1_uc010xno.2_Silent_p.G1322G|LOC100507373_uc002myf.3_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	1327					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCGGTCAGCACCCCCGGGCC	0.716000														34			10		0	0	1	0	0
BAP1	8314	broad.mit.edu	37	3	52439312	52439312	+	Splice_Site	SNP	T	G	G	rs112194987		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:52439312T>G	uc003ddx.3	-	11	1047	c.932_splice	c.e11-1	p.D311_splice	BAP1_uc003ddw.3_5'Flank|BAP1_uc010hmg.3_5'Flank|BAP1_uc010hmh.3_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA.	311					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	PR-DUB complex|cytoplasm|nucleolus	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CTGCACCATCTGAGACAGGGC	0.587000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""								386			125		0	0	1	0	0
SUN1	23353	broad.mit.edu	37	7	897577	897577	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:897577G>A	uc021zym.1	+	12	1527	c.1507G>A	c.(1507-1509)Gat>Aat	p.D503N	GET4_uc003sjj.1_Non-coding_Transcript|SUN1_uc011jvq.2_Missense_Mutation_p.D400N|SUN1_uc003sjf.3_Missense_Mutation_p.D420N|SUN1_uc003sjg.3_Missense_Mutation_p.D408N|SUN1_uc011jvr.2_Missense_Mutation_p.D301N|SUN1_uc003sji.3_Missense_Mutation_p.D341N|SUN1_uc003sjk.3_Missense_Mutation_p.D142N	NM_001130965	NP_001124437	O94901	SUN1_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 1 (SUN1), transcript variant 1, mRNA.	530					cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	SUN-KASH complex|integral to membrane|nuclear inner membrane	protein binding	p.D420N(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGAGACAGTGGATGCCGTACA	0.458000														548			123		0	0	1	0	0
AGPAT3	56894	broad.mit.edu	37	21	45402220	45402220	+	Missense_Mutation	SNP	G	A	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr21:45402220G>A	uc002zdx.3	+	10	2004	c.1339G>A	c.(1339-1341)Gag>Aag	p.E447K	AGPAT3_uc002zdv.3_Missense_Mutation_p.E360K|AGPAT3_uc002zdw.3_Missense_Mutation_p.E360K|AGPAT3_uc002zdy.3_Missense_Mutation_p.E298K	NM_020132	NP_064517	Q9NRZ7	PLCC_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 3 (AGPAT3), transcript variant 1, mRNA.	360					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		AGGAGTAACTGAGATAGAAAA	0.453000														547			115		0	0	1	0	0
GRM8	2918	broad.mit.edu	37	7	126173847	126173847	+	Missense_Mutation	SNP	T	G	G			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:126173847T>G	uc003vlr.2	-	7	1900	c.1589A>C	c.(1588-1590)aAa>aCa	p.K530T	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.K530T|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	530					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGGGACCCCTTTCACCGTTTT	0.557000										HNSCC(24;0.065)				499			12		0	0	1	0	0
CHD3	1107	broad.mit.edu	37	17	7796815	7796815	+	Missense_Mutation	SNP	G	C	C	rs150799852		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr17:7796815G>C	uc002gjd.2	+	4	900	c.898G>C	c.(898-900)Gcc>Ccc	p.A300P	CHD3_uc002gje.2_Missense_Mutation_p.A241P|CHD3_uc002gjf.2_Missense_Mutation_p.A241P|CHD3_uc002gjg.1_Missense_Mutation_p.A73P	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	241					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	p.A241P(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CGGACCCCCCGCCCTTCCACC	0.632000														78			8		0	0	1	0	0
CLEC1B	51266	broad.mit.edu	37	12	10145836	10145836	+	Missense_Mutation	SNP	T	C	C			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:10145836T>C	uc001qwu.3	-	5	796	c.596A>G	c.(595-597)cAt>cGt	p.H199R	CLEC1B_uc009zhd.3_Missense_Mutation_p.H166R	NM_016509	NP_057593	Q9P126	CLC1B_HUMAN	Homo sapiens C-type lectin domain family 1, member B (CLEC1B), transcript variant 1, mRNA.	199	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						TTTCCCATTATGAAAATAAGC	0.368000														451			81		0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88534045	88534045	+	Missense_Mutation	SNP	A	T	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr4:88534045A>T	uc003hqu.3	+	3	827	c.707A>T	c.(706-708)gAt>gTt	p.D236V		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	236					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		ACTGGAGAAGATGCTGGCCTG	0.473000														152			38		0	0	1	0	0
EPHB6	2051	broad.mit.edu	37	7	142562188	142562188	+	Silent	SNP	C	T	T			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr7:142562188C>T	uc011kst.2	+	6	1417	c.630C>T	c.(628-630)taC>taT	p.Y210Y	EPHB6_uc011ksu.2_Silent_p.Y210Y|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_Intron|EPHB6_uc003wbu.3_5'UTR|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	210						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity	p.A209T(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GCGGCTTCTACGTGGCCTTCC	0.657000														877			18		0	0	1	0	0
RPL23AP32	56969	broad.mit.edu	37	2	54756737	54756737	+	Silent	SNP	T	C	C			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:54756737T>C	uc010yot.1	+	0	379	c.255T>C	c.(253-255)ttT>ttC	p.F85F	SPTBN1_uc002rxu.3_Intron|SPTBN1_uc002rxv.1_Intron					Homo sapiens ribosomal protein L23a pseudogene 32 (RPL23AP32), non-coding RNA.																		CCACTGAGTTTGCCATGAAGA	0.478000														181			8		0	0	1	0	0
NUP153	9972	broad.mit.edu	37	6	17688753	17688753	+	Missense_Mutation	SNP	T	C	C	rs138192099		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr6:17688753T>C	uc003ncd.1	-	1	408	c.208A>G	c.(208-210)Aca>Gca	p.T70A	NUP153_uc011dje.1_Missense_Mutation_p.T70A|NUP153_uc010jpl.1_Missense_Mutation_p.T70A	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	70					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTTGTGTCTGTTGAACAGCTG	0.443000														526			25		0	0	1	0	0
GPS2	2874	broad.mit.edu	37	17	7227181	7227181	+	Missense_Mutation	SNP	C	A	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr17:7227181C>A	uc002gga.1	-	11	2220	c.2213G>T	c.(2212-2214)cGc>cTc	p.R738L	GPS2_uc002ggb.1_Missense_Mutation_p.R738L|GPS2_uc002ggc.1_Missense_Mutation_p.R84L	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	0					JNK cascade|cell cycle|inactivation of MAPK activity|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				ACAGTTGTGGCGGAGGGCGGT	0.622000											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		500			73		1.76847e-28	1.85689e-28	1	1	0
AP1B1	162	broad.mit.edu	37	22	29727462	29727462	+	Missense_Mutation	SNP	G	C	C			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr22:29727462G>C	uc003afj.3	-	18	2687	c.2500C>G	c.(2500-2502)Ctc>Gtc	p.L834V	AP1B1_uc003afl.3_Missense_Mutation_p.L807V|AP1B1_uc003afi.3_Missense_Mutation_p.L827V|AP1B1_uc003afh.3_Missense_Mutation_p.L31V|AP1B1_uc011ako.2_Missense_Mutation_p.L387V	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	834					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	Golgi membrane|clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TCCACAAAGAGGATGTGCAGT	0.577000														710			133		0	0	1	0	0
DISP2	85455	broad.mit.edu	37	15	40662363	40662363	+	Missense_Mutation	SNP	C	G	G			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr15:40662363C>G	uc001zlk.1	+	7	4139	c.4050C>G	c.(4048-4050)gaC>gaG	p.D1350E		NM_033510	NP_277045	A7MBM2	DISP2_HUMAN	Homo sapiens dispatched homolog 2 (Drosophila) (DISP2), mRNA.	1350					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CAGTGTATGACCCATCATTGC	0.637000														585			34		0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106165	27106165	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:27106165delG	uc001bmv.1	+	19	6149	c.5776delG	c.(5776-5778)ggafs	p.G1926fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.G1709fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.G772fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.G254fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.G168fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1926					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding	p.G1926A(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GACCGAGGATGGAGCTAAGAG	0.537			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								---	424	---	---	131	---					
ANKRD35	148741	broad.mit.edu	37	1	145562117	145562117	+	Frame_Shift_Del	DEL	A	-	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:145562117delA	uc001eob.1	+	9	1913	c.1805delA	c.(1804-1806)gaafs	p.E602fs	ANKRD35_uc010oyx.1_Frame_Shift_Del_p.E445fs	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	602										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTTGGAGGGGAAAAGGCCCTA	0.577													---	450	---	---	7	---					
MCL1	4170	broad.mit.edu	37	1	150551492	150551494	+	In_Frame_Del	DEL	TCC	-	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr1:150551492_150551494delTCC	uc001euz.3	-	0	721_723	c.513_515delGGA	c.(511-516)gaggac>gac	p.E171del	MCL1_uc010pch.2_In_Frame_Del_p.E61del|MCL1_uc021oyf.1_Intron|MCL1_uc001eva.3_In_Frame_Del_p.E171del	NM_021960	NP_068779	Q07820	MCL1_HUMAN	Homo sapiens myeloid cell leukemia sequence 1 (BCL2-related) (MCL1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	171	PEST-like.				anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTACAACTCGTCCTCCTCCTCCT	0.635													---	511	---	---	8	---					
MRPL35	51318	broad.mit.edu	37	2	86433365	86433366	+	Frame_Shift_Ins	INS	-	A	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:86433365_86433366insA	uc002srg.4	+	1	238_239	c.180_181insA	c.(178-183)cttaccfs	p.L60fs	MRPL35_uc002srf.4_Frame_Shift_Ins_p.L60fs	NM_016622	NP_057706	Q9NZE8	RM35_HUMAN	Homo sapiens mitochondrial ribosomal protein L35 (MRPL35), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	60					translation	mitochondrial ribosome	structural constituent of ribosome	p.T61T(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						CTCCCAGACTTACCACATCTGA	0.406													---	606	---	---	129	---					
ANKRD36C	400986	broad.mit.edu	37	2	96525717	96525718	+	Frame_Shift_Ins	INS	-	T	T	rs77057279	by1000genomes	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr2:96525717_96525718insT	uc002suz.1	-	28	2345_2346	c.868_869insA	c.(868-870)ctgfs	p.L290fs	ANKRD36C_uc002sva.1_Non-coding_Transcript|ANKRD36C_uc002svb.1_Frame_Shift_Ins_p.L290fs					SubName: Full=Uncharacterized protein;											breast(1)|endometrium(8)|kidney(5)|lung(4)	18						CTTATTTTTCAGTTTTCGAATT	0.282													---	3	---	---	4	---					
TNIK	23043	broad.mit.edu	37	3	170783996	170783996	+	Frame_Shift_Del	DEL	G	-	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr3:170783996delG	uc003fhh.2	-	31	4324	c.3979delC	c.(3979-3981)ctafs	p.L1327fs	TNIK_uc003fhi.2_Frame_Shift_Del_p.L1272fs|TNIK_uc003fhj.2_Frame_Shift_Del_p.L1298fs|TNIK_uc003fhk.2_Frame_Shift_Del_p.L1319fs|TNIK_uc003fhl.2_Frame_Shift_Del_p.L1243fs|TNIK_uc003fhm.2_Frame_Shift_Del_p.L1264fs|TNIK_uc003fhn.2_Frame_Shift_Del_p.L1290fs|TNIK_uc003fho.2_Frame_Shift_Del_p.L1235fs|TNIK_uc003fhg.2_Frame_Shift_Del_p.L505fs	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	1327	CNH.				Wnt receptor signaling pathway|actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTTTCACATAGAAACTTTAAC	0.393													---	364	---	---	47	---					
OTOP1	133060	broad.mit.edu	37	4	4204225	4204229	+	Frame_Shift_Del	DEL	TTGAG	-	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr4:4204225_4204229delTTGAG	uc003ghp.1	-	3	706_710	c.676_680delCTCAA	c.(676-681)ctcaatfs	p.L226fs		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	226					biomineral tissue development	extracellular space|integral to membrane		p.L226fs*1(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTTGTGCTCATTGAGTTGGTGCTTT	0.502													---	568	---	---	7	---					
PCDHAC2	56134	broad.mit.edu	37	5	140230590	140230590	+	Frame_Shift_Del	DEL	T	-	-	rs17844337		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr5:140230590delT	uc003lht.1	+	0	3234	c.2510delT	c.(2509-2511)attfs	p.I837fs	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron	NM_014005	NP_054724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 2, mRNA.	0					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCAGCAGATTTTTTTTCTG	0.279													---	1176	---	---	9	---					
OSR2	116039	broad.mit.edu	37	8	99961401	99961402	+	Frame_Shift_Ins	INS	-	G	G			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr8:99961401_99961402insG	uc011lgx.2	+	2	1005_1006	c.584_585insG	c.(583-585)gcgfs	p.A195fs	OSR2_uc010mbn.2_Frame_Shift_Ins_p.A74fs|OSR2_uc003yir.3_Frame_Shift_Ins_p.A74fs|OSR2_uc003yiq.3_Frame_Shift_Ins_p.A74fs	NM_001142462	NP_001135934	Q8N2R0	OSR2_HUMAN	Homo sapiens odd-skipped related 2 (Drosophila) (OSR2), transcript variant 1, mRNA.	74					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GAGATGGCGGCGGCGCAGGGCC	0.649													---	579	---	---	7	---					
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	-	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	uc001jcx.4	-	0	234_254	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_uc021pps.1_In_Frame_Del_p.36_43AGDRMAGA>A|AGAP4_uc010qfl.2_In_Frame_Del_p.36_43AGDRMAGA>A|AGAP4_uc001jcy.4_5'UTR	NM_133446	NP_597703	Q96P64	AGAP4_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 4 (AGAP4), mRNA.	36					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G37_A43delGDRMAGA(2)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588													---	22	---	---	7	---					
HTR7P1	93164	broad.mit.edu	37	12	13154583	13154583	+	RNA	DEL	G	-	-	rs75373880		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr12:13154583delG	uc010shq.2	+	0		c.1208delG			HEBP1_uc001rbd.3_5'Flank|HTR7P1_uc001rbh.3_Intron					Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 pseudogene 1 (HTR7P1), non-coding RNA.																		TCTGCTGAGCGGGGGCCCCCG	0.731													---	4	---	---	4	---					
ADAL	161823	broad.mit.edu	37	15	43641114	43641115	+	Frame_Shift_Ins	INS	-	A	A			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr15:43641114_43641115insA	uc010udo.2	+	9	1136_1137	c.562_563insA	c.(562-564)caafs	p.Q188fs	ADAL_uc001zrh.3_Frame_Shift_Ins_p.Q215fs|ADAL_uc001zri.2_Frame_Shift_Ins_p.Q100fs	NM_001159280	NP_001152752	Q6DHV7	ADAL_HUMAN	Homo sapiens adenosine deaminase-like (ADAL), transcript variant 1, mRNA.	215					adenosine catabolic process|inosine biosynthetic process|purine ribonucleoside monophosphate biosynthetic process		adenosine deaminase activity|metal ion binding			endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)	7		all_cancers(109;7.96e-11)|all_epithelial(112;2.96e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;9.31e-07)		GATTCCAAACCAAAAAAAAGAA	0.455													---	348	---	---	7	---					
ELMO3	79767	broad.mit.edu	37	16	67237464	67237484	+	In_Frame_Del	DEL	TCATTGCCCCCTCCAAGCGGG	-	-	rs148378199	by1000genomes	TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr16:67237464_67237484delTCATTGCCCCCTCCAAGCGGG	uc002esa.3	+	18	2130_2150	c.2087_2107delTCATTGCCCCCTCCAAGCGGG	c.(2086-2109)ttcattgccccctccaagcgggag>tag	p.696_703FIAPSKRE>*	ELMO3_uc002esb.3_In_Frame_Del_p.679_686FIAPSKRE>*|ELMO3_uc002esc.3_In_Frame_Del_p.530_537FIAPSKRE>*|MIR328_uc010vjf.1_5'Flank	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.	643					apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		TACCTCAACTTCATTGCCCCCTCCAAGCGGGAGGTGAGTGT	0.629													---	341	---	---	24	---					
MYOCD	93649	broad.mit.edu	37	17	12647692	12647694	+	In_Frame_Del	DEL	CAG	-	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr17:12647692_12647694delCAG	uc002gno.2	+	7	1209_1211	c.910_912delCAG	c.(910-912)cagdel	p.Q310del	MYOCD_uc002gnn.2_In_Frame_Del_p.Q310del|MYOCD_uc002gnp.1_In_Frame_Del_p.Q214del|MYOCD_uc002gnq.2_In_Frame_Del_p.Q29del	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	310	Gln-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	RNA polymerase II transcription factor binding transcription factor activity|nucleic acid binding|transcription factor binding	p.Q309Q(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AATCCTCAGCcagcagcagcagc	0.596													---	202	---	---	10	---					
LILRB2	10288	broad.mit.edu	37	19	54780707	54780709	+	In_Frame_Del	DEL	GAG	-	-			TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr19:54780707_54780709delGAG	uc002qfb.3	-	9	1701_1703	c.1435_1437delCTC	c.(1435-1437)ctcdel	p.L479del	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_In_Frame_Del_p.L479del|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_In_Frame_Del_p.L478del|LILRB2_uc010yet.2_In_Frame_Del_p.L363del	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	479					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.L479L(2)|p.L478F(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ggatgaggaagaggaggaggagg	0.611													---	623	---	---	10	---					
SLC23A2	9962	broad.mit.edu	37	20	4850569	4850569	+	Frame_Shift_Del	DEL	G	-	-	rs138961929		TCGA-FZ-5922-01A-11D-1609-08	TCGA-FZ-5922-11A-01D-1609-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f015222f-24cd-4c16-8b94-af45b261e907	6207d556-6646-4a17-bb29-e80c8052e2af	g.chr20:4850569delG	uc002wlg.1	-	11	1608	c.1233delC	c.(1231-1233)cccfs	p.P411fs	SLC23A2_uc010zqr.1_Frame_Shift_Del_p.P296fs|SLC23A2_uc002wlh.1_Frame_Shift_Del_p.P411fs|SLC23A2_uc002wli.3_Frame_Shift_Del_p.P410fs	NM_005116	NP_976072	Q9UGH3	S23A2_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 2 (SLC23A2), transcript variant 1, mRNA.	411					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	p.I412fs*4(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTGCGTGGATGGGGGGGGGTG	0.527													---	455	---	---	16	---					
