Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
NCOA4	8031	broad.mit.edu	37	10	51579175	51579175	+	Missense_Mutation	SNP	A	A	C			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr10:51579175A>C	uc001jis.4	+	1	237	c.34A>C	c.(34-36)Agt>Cgt	p.S12R	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|NCOA4_uc009xon.3_Missense_Mutation_p.S28R|NCOA4_uc010qhd.2_Missense_Mutation_p.S28R|NCOA4_uc010qhe.2_Intron|NCOA4_uc010qhf.2_Intron|NCOA4_uc001jit.3_Missense_Mutation_p.S12R|NCOA4_uc009xoo.3_Missense_Mutation_p.S12R	NM_001145263	NP_005428	Q13772	NCOA4_HUMAN	Homo sapiens nuclear receptor coactivator 4 (NCOA4), transcript variant 4, mRNA.	12					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TGGCAGCTCCAGTAATAGAGA	0.408000			T	RET	papillary thyroid								5	37					0	0	1	0	0
TRANK1	9881	broad.mit.edu	37	3	36874430	36874430	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr3:36874430C>T	uc003cgj.3	-	20	6760	c.6512G>A	c.(6511-6513)cGt>cAt	p.R2171H		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2171					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GGCTTCACAACGCCGCAGAGG	0.438000													9	8					0	0	1	0	0
RFPL1	5988	broad.mit.edu	37	22	29837996	29837996	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr22:29837996A>G	uc003afn.3	+	1	1048	c.839A>G	c.(838-840)cAc>cGc	p.H280R	RFPL1-AS1_uc003afm.2_Non-coding_Transcript	NM_021026	NP_066306	O75677	RFPL1_HUMAN	Homo sapiens ret finger protein-like 1 (RFPL1), mRNA.	280	B30.2/SPRY.						zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						GAGCCACTGCACTTGTTTTTT	0.463000													4	155					0	0	1	0	0
DEFA6	1671	broad.mit.edu	37	8	6783427	6783427	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr8:6783427G>A	uc003wqt.3	-	0	172	c.131C>T	c.(130-132)gCa>gTa	p.A44V		NM_001926	NP_001917	Q01524	DEF6_HUMAN	Homo sapiens defensin, alpha 6, Paneth cell-specific (DEFA6), mRNA.	44					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				lung(4)	4			STAD - Stomach adenocarcinoma(24;0.0322)	COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CTGGTCATTTGCCCCACGCTG	0.557000													20	32					0	0	1	0	0
XRN1	54464	broad.mit.edu	37	3	142030528	142030528	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr3:142030528C>T	uc003eus.3	-	41	5013	c.4946G>A	c.(4945-4947)aGc>aAc	p.S1649N	XRN1_uc010huu.3_Missense_Mutation_p.S1103N|XRN1_uc003eut.3_Missense_Mutation_p.S1636N|XRN1_uc003euu.3_Missense_Mutation_p.S1637N	NM_019001	NP_061874	Q8IZH2	XRN1_HUMAN	Homo sapiens 5'-3' exoribonuclease 1 (XRN1), transcript variant 1, mRNA.	1649					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	Golgi apparatus|cytosol|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|RNA binding|protein binding	p.E1648G(1)		NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AGCTGATGAGCTCTCCCGTGG	0.448000													6	69					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118284349	118284349	+	Missense_Mutation	SNP	T	T	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chrX:118284349T>A	uc004era.4	-	0	194	c.194A>T	c.(193-195)gAg>gTg	p.E65V		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	65										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGGGCCAAGCTCCCCCTTGGT	0.567000													5	87					0	0	1	0	0
CAPN2	824	broad.mit.edu	37	1	223959597	223959597	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr1:223959597C>G	uc001hob.4	+	18	2214	c.1990C>G	c.(1990-1992)Cgg>Ggg	p.R664G	CAPN2_uc010puy.2_Missense_Mutation_p.R586G|CAPN2_uc001hoc.3_Missense_Mutation_p.R245G	NM_001748	NP_001139540	P17655	CAN2_HUMAN	Homo sapiens calpain 2, (m/II) large subunit (CAPN2), transcript variant 1, mRNA.	664	Domain IV.				proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TAATTTTGTTCGGTGTTTGGT	0.443000													48	120					0	0	1	0	0
SLC6A13	6540	broad.mit.edu	37	12	347126	347126	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr12:347126C>T	uc001qic.2	-	4	619	c.529G>A	c.(529-531)Gag>Aag	p.E177K	SLC6A13_uc009zdj.2_Missense_Mutation_p.E177K|SLC6A13_uc010sdl.2_Missense_Mutation_p.E85K|SLC6A13_uc010sdm.1_Missense_Mutation_p.E58K	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	177					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GTGGCATTCTCAGAGGTACCA	0.532000													6	159					0	0	1	0	0
ACADSB	36	broad.mit.edu	37	10	124800167	124800167	+	Silent	SNP	G	G	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr10:124800167G>A	uc001lhb.3	+	3	606	c.489G>A	c.(487-489)ttG>ttA	p.L163L	ACADSB_uc010qub.2_Silent_p.L61L	NM_001609	NP_001600	P45954	ACDSB_HUMAN	Homo sapiens acyl-CoA dehydrogenase, short/branched chain (ACADSB), nuclear gene encoding mitochondrial protein, mRNA.	163					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	CCACCTATTTGCCTCAGCTCA	0.353000													18	45					0	0	1	0	0
CUL1	8454	broad.mit.edu	37	7	148496376	148496376	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr7:148496376G>A	uc010lpg.3	+	20	2672	c.2146G>A	c.(2146-2148)Gtg>Atg	p.V716M	CUL1_uc003wey.3_Missense_Mutation_p.V716M|CUL1_uc003wez.3_Missense_Mutation_p.V606M|CUL1_uc003wfa.3_Missense_Mutation_p.V377M	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	716					G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination	SCF ubiquitin ligase complex|cytosol|nucleoplasm	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGCGGCCATCGTGAGAATCAT	0.478000													29	53					0	0	1	0	0
LOC100133050	100133050	broad.mit.edu	37	5	99715528	99715528	+	RNA	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr5:99715528C>T	uc011cuw.1	-	3		c.382G>A								Homo sapiens glucuronidase, beta pseudogene (LOC100133050), non-coding RNA.																		AGCGGACAGTCGAAGCCCTTC	0.607000													6	18					0	0	1	0	0
SDCCAG8	10806	broad.mit.edu	37	1	243419490	243419490	+	Silent	SNP	G	G	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr1:243419490G>A	uc001hzw.3	+	0	184	c.15G>A	c.(13-15)ccG>ccA	p.P5P	CEP170_uc021plo.1_5'Flank|CEP170_uc021plp.1_5'Flank|CEP170_uc021plq.1_5'Flank|CEP170_uc021pls.1_5'Flank|SDCCAG8_uc010pyk.2_5'UTR|SDCCAG8_uc010pyl.2_5'UTR	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA.	5					G2/M transition of mitotic cell cycle|establishment of cell polarity|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CGAAGTCCCCGGAGAACTCTA	0.617000													5	85					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88536460	88536460	+	Silent	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr4:88536460C>T	uc003hqu.3	+	4	2766	c.2646C>T	c.(2644-2646)agC>agT	p.S882S		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	882	Asp/Ser-rich.				biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	p.D881_S882insSSD(1)		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)		gcagtgatagcagtgacagca	0.498000													35	66					0	0	1	0	0
DYNC2H1	79659	broad.mit.edu	37	11	103006543	103006543	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr11:103006543A>G	uc001phn.1	+	16	2584	c.2440A>G	c.(2440-2442)Aag>Gag	p.K814E	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Missense_Mutation_p.K814E	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	814	Stem (By similarity).				Golgi organization|cell projection organization|microtubule-based movement|multicellular organismal development	Golgi apparatus|cilium axoneme|dynein complex|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AAATCAGTTTAAGGGAGTGGG	0.373000													22	19					0	0	1	0	0
PCDHB17	54661	broad.mit.edu	37	5	140537085	140537085	+	Silent	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr5:140537085C>T	uc003lis.3	+	0	1506	c.1506C>T	c.(1504-1506)tcC>tcT	p.S502S						Homo sapiens protocadherin beta 17 pseudogene (PCDHB17), non-coding RNA.																		CCCTCGCCTCCCTGGTCTCCA	0.647000													27	55					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29162089	29162089	+	Silent	SNP	T	T	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr17:29162089T>A	uc002hfs.1	+	1	1333	c.990T>A	c.(988-990)ccT>ccA	p.P330P	ATAD5_uc002hft.1_Silent_p.P227P	NM_024857	NP_079133	Q96QE3	ATAD5_HUMAN	Homo sapiens ATPase family, AAA domain containing 5 (ATAD5), mRNA.	330					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AGGTTCACCCTATTCCGCCCA	0.378000													59	75					0	0	1	0	0
FOXRED1	55572	broad.mit.edu	37	11	126146393	126146393	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr11:126146393A>G	uc001qdi.3	+	8	1243	c.1076A>G	c.(1075-1077)tAc>tGc	p.Y359C	FOXRED1_uc010sbn.2_Missense_Mutation_p.Y189C|FOXRED1_uc010sbq.2_Missense_Mutation_p.Y226C|FOXRED1_uc010sbo.2_Non-coding_Transcript|FOXRED1_uc010sbp.2_Missense_Mutation_p.Y172C|FOXRED1_uc010sbr.2_Missense_Mutation_p.Y345C|FOXRED1_uc001qdk.3_Missense_Mutation_p.Y148C	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 1 (FOXRED1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	359						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		GGTAGCAACTACCTAGGTGGT	0.542000													4	155					0	0	1	0	0
CARNS1	57571	broad.mit.edu	37	11	67186592	67186592	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr11:67186592G>C	uc001olc.4	+	2	1958	c.778G>C	c.(778-780)Gga>Cga	p.G260R	PPP1CA_uc001okx.1_Intron|CARNS1_uc010rpq.1_Missense_Mutation_p.G260R|CARNS1_uc010rpr.2_Missense_Mutation_p.G244R|CARNS1_uc009yrp.3_Missense_Mutation_p.G121R	NM_020811	NP_065862	A5YM72	CRNS1_HUMAN	Homo sapiens carnosine synthase 1 (CARNS1), transcript variant 2, mRNA.	121					carnosine biosynthetic process		ATP binding|carnosine synthase activity|metal ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						GCTGCTGCGGGGAGGGGATGC	0.652000													17	11					0	0	1	0	0
NCKAP1	10787	broad.mit.edu	37	2	183792879	183792879	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr2:183792879C>T	uc002upc.3	-	28	3548	c.3146G>A	c.(3145-3147)gGa>gAa	p.G1049E	NCKAP1_uc002upb.3_Missense_Mutation_p.G1055E	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.	1049					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTCAATGCTTCCTTTGTGAAT	0.358000													11	25					0	0	1	0	0
TNXB	7148	broad.mit.edu	37	6	32052212	32052212	+	Silent	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr6:32052212C>T	uc003nzl.2	-	7	3625	c.3423G>A	c.(3421-3423)ccG>ccA	p.P1141P		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1228					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CAGCCACCAGCGGACCATGCC	0.557000													39	75					0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144522452	144522452	+	Silent	SNP	G	G	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr8:144522452G>T	uc003yyd.2	-	10	2603	c.2574C>A	c.(2572-2574)ccC>ccA	p.P858P		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	858					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CTGGGCAGTGGGGAGGTGCAG	0.682000													14	14					1.49906e-05	1.5526e-05	1	1	0
ZDHHC8P1	150244	broad.mit.edu	37	22	23736241	23736241	+	RNA	SNP	G	G	A	rs34481096	by1000genomes	TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr22:23736241G>A	uc002zxa.4	-	3		c.1193C>T			ZDHHC8P1_uc002zxb.4_Intron|ZDHHC8P1_uc002zwz.4_Intron					Homo sapiens zinc finger, DHHC-type containing 8 pseudogene 1 (ZDHHC8P1), non-coding RNA.																		TCTCGGAAGGGGTTCTGGTCA	0.642000													4	63					0	0	1	0	0
FAM47A	158724	broad.mit.edu	37	X	34148936	34148936	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chrX:34148936C>T	uc004ddg.3	-	0	1512	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	487								p.R487Q(2)|p.R486L(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACTGGACCTCCGACGTGTCTT	0.642000													4	49					0	0	1	0	0
TAF3	83860	broad.mit.edu	37	10	8007636	8007636	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr10:8007636G>C	uc010qbd.2	+	2	2163	c.2163G>C	c.(2161-2163)aaG>aaC	p.K721N		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	721	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						agaaggagaaggaaagagaga	0.383000													16	45					0	0	1	0	0
PNMA2	10687	broad.mit.edu	37	8	26365721	26365721	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr8:26365721C>T	uc022atc.1	-	0	551	c.551G>A	c.(550-552)tGg>tAg	p.W184*	PNMA2_uc003xez.2_Nonsense_Mutation_p.W184*	NM_007257	NP_009188	Q9UL42	PNMA2_HUMAN	Homo sapiens paraneoplastic antigen MA2 (PNMA2), mRNA.	184					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		ctgttccaaccagacctcaaa	0.587000													3	70					0	0	1	0	0
SSFA2	6744	broad.mit.edu	37	2	182774650	182774650	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr2:182774650C>G	uc002uoi.3	+	8	1760	c.1438C>G	c.(1438-1440)Cct>Gct	p.P480A	SSFA2_uc002uoh.3_Missense_Mutation_p.P480A|SSFA2_uc002uoj.3_Missense_Mutation_p.P480A|SSFA2_uc002uok.3_Non-coding_Transcript|SSFA2_uc010zfo.2_Missense_Mutation_p.P327A|SSFA2_uc002uol.3_Missense_Mutation_p.P327A	NM_001130445	NP_001123917	P28290	SSFA2_HUMAN	Homo sapiens sperm specific antigen 2 (SSFA2), transcript variant 1, mRNA.	480						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GGGAGAAGCTCCTCATGTTCC	0.368000													26	36					0	0	1	0	0
SUSD2	56241	broad.mit.edu	37	22	24583996	24583996	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr22:24583996C>A	uc002zzn.1	+	12	2278	c.2234C>A	c.(2233-2235)tCc>tAc	p.S745Y		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	745	Sushi.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CTGGCGGGTTCCACCATCTAC	0.642000													97	169					6.25825e-54	7.07101e-54	1	1	0
INTS3	65123	broad.mit.edu	37	1	153740253	153740253	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr1:153740253G>T	uc009wom.3	+	21	2415	c.2194G>T	c.(2194-2196)Gag>Tag	p.E732*	INTS3_uc001fct.3_Nonsense_Mutation_p.E732*|INTS3_uc001fcu.3_Nonsense_Mutation_p.E424*|INTS3_uc001fcv.3_Nonsense_Mutation_p.E526*|INTS3_uc010peb.2_Nonsense_Mutation_p.E526*|INTS3_uc001fcw.3_Nonsense_Mutation_p.E245*|INTS3_uc010pec.2_Nonsense_Mutation_p.E245*|INTS3_uc001fcx.3_Nonsense_Mutation_p.E29*|INTS3_uc001fcy.3_Nonsense_Mutation_p.E29*	NM_023015	NP_075391	Q68E01	INT3_HUMAN	Homo sapiens integrator complex subunit 3 (INTS3), mRNA.	733					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	SOSS complex|integrator complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCCTGCCAGGAGGACGATGT	0.612000													27	52					1.80694e-10	1.89403e-10	1	1	0
TPI1	7167	broad.mit.edu	37	12	6976718	6976718	+	Silent	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr12:6976718C>T	uc001qrk.3	+	0	135	c.99C>T	c.(97-99)ctC>ctT	p.L33L	TPI1_uc010sfo.2_5'Flank	NM_000365	NP_000356	P60174	TPIS_HUMAN	Homo sapiens triosephosphate isomerase 1 (TPI1), transcript variant 1, mRNA.	0					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						TTCAGCGCCTCGGCTCCAGCG	0.642000													4	44					0	0	1	0	0
PRELP	5549	broad.mit.edu	37	1	203452573	203452573	+	Silent	SNP	C	C	G			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr1:203452573C>G	uc001gzs.3	+	1	461	c.261C>G	c.(259-261)ctC>ctG	p.L87L	PRELP_uc001gzt.3_Silent_p.L87L	NM_002725	NP_958505	P51888	PRELP_HUMAN	Homo sapiens proline/arginine-rich end leucine-rich repeat protein (PRELP), transcript variant 1, mRNA.	87	Cys-rich.				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			CATCTGCCCTCTACTGTGATA	0.587000													5	238					0	0	1	0	0
MECR	51102	broad.mit.edu	37	1	29557328	29557328	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr1:29557328C>T	uc001brq.1	-	0	127	c.91G>A	c.(91-93)Gcc>Acc	p.A31T	MECR_uc001brp.1_5'UTR|MECR_uc001brt.1_5'UTR|MECR_uc010ofz.1_Missense_Mutation_p.A31T	NM_016011	NP_001019903	Q9BV79	MECR_HUMAN	Homo sapiens mitochondrial trans-2-enoyl-CoA reductase (MECR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	31					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		TAGGAGGAGGCGGCAGGTCCG	0.701000													18	10					0	0	1	0	0
ACMSD	130013	broad.mit.edu	37	2	135621133	135621133	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr2:135621133G>A	uc002ttz.3	+	4	485	c.418G>A	c.(418-420)Ggg>Agg	p.G140R	ACMSD_uc002tua.3_Missense_Mutation_p.G82R	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA.	140					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		GGGCTTTCCCGGGGTCCAAAT	0.632000													3	67					0	0	1	0	0
C14orf39	317761	broad.mit.edu	37	14	60921717	60921717	+	Splice_Site	SNP	A	A	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr14:60921717A>T	uc001xez.4	-	16	1613	c.1503_splice	c.e16+1	p.Q501_splice	C14orf39_uc010apo.3_Splice_Site_p.Q212_splice	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	501										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TTCTCATATTACCTGATCTGA	0.313000													5	6					0	0	1	0	0
CDH18	1016	broad.mit.edu	37	5	19612631	19612631	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr5:19612631C>T	uc003jgd.3	-	5	1257	c.723G>A	c.(721-723)atG>atA	p.M241I	CDH18_uc011cnm.2_Missense_Mutation_p.M241I|CDH18_uc003jgc.3_Missense_Mutation_p.M241I|CDH18_uc021xwu.1_Missense_Mutation_p.M241I	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	241	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.M241I(3)|p.M241L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CTTGCCCAGCCATGTCTTTGG	0.418000													6	148					0	0	1	0	0
HPSE2	60495	broad.mit.edu	37	10	100481443	100481443	+	Silent	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr10:100481443C>T	uc001kpn.2	-	4	1000	c.927G>A	c.(925-927)ccG>ccA	p.P309P	HPSE2_uc009xwc.2_Silent_p.P309P|HPSE2_uc001kpo.2_Silent_p.P251P|HPSE2_uc009xwd.2_Silent_p.P197P	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.	309					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		CATTCTTCCTCGGCCGCCCAA	0.438000													6	41					0	0	1	0	0
FRG2B	441581	broad.mit.edu	37	10	135439107	135439107	+	Splice_Site	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr10:135439107C>T	uc010qvg.2	-	4	385	c.332_splice	c.e4-1	p.G111_splice		NM_001080998	NP_001074467	Q96QU4	FRG2B_HUMAN	Homo sapiens FSHD region gene 2 family, member B (FRG2B), mRNA.	111						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CTGGACAGTTCCCTGCAAAGA	0.512000													3	87					0	0	1	0	0
ZAN	7455	broad.mit.edu	37	7	100352929	100352929	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr7:100352929C>G	uc003uwj.3	+	14	3370	c.3205C>G	c.(3205-3207)Ctc>Gtc	p.L1069V	ZAN_uc003uwk.3_Missense_Mutation_p.L1069V|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1069	TIL 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTGTGGGCCCCTCTGTCGGGA	0.557000													34	54					0	0	1	0	0
MOGS	7841	broad.mit.edu	37	2	74688599	74688599	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr2:74688599C>T	uc010ffj.3	-	3	2480	c.2317G>A	c.(2317-2319)Gag>Aag	p.E773K	MOGS_uc010ffh.3_Missense_Mutation_p.E498K|MOGS_uc010yrt.2_Missense_Mutation_p.E654K|MOGS_uc010ffi.3_Missense_Mutation_p.E667K	NM_006302	NP_001139630	Q13724	MOGS_HUMAN	Homo sapiens mannosyl-oligosaccharide glucosidase (MOGS), transcript variant 1, mRNA.	773					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TGAGGACCCTCCAGATGCCCA	0.592000													49	112					0	0	1	0	0
CACNG2	10369	broad.mit.edu	37	22	37098581	37098581	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr22:37098581G>T	uc003aps.2	-	0	110	c.41C>A	c.(40-42)aCc>aAc	p.T14N	AK123632_uc003apt.1_5'Flank	NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	14					membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	p.T14T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						AGCACCAACGGTGGTTAAAAG	0.488000													40	75					4.0181e-32	4.48173e-32	1	1	0
DNA2	1763	broad.mit.edu	37	10	70182074	70182074	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr10:70182074C>T	uc021pru.1	-	16	2863	c.2863G>A	c.(2863-2865)Gaa>Aaa	p.E955K	DNA2_uc021prt.1_Missense_Mutation_p.E955K|DNA2_uc021prv.1_Missense_Mutation_p.E126K|DNA2_uc001jog.2_Intron|DNA2_uc001joh.2_Non-coding_Transcript	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	Homo sapiens DNA replication helicase 2 homolog (yeast) (DNA2), mRNA.	869					DNA replication, removal of RNA primer|S phase of mitotic cell cycle|base-excision repair|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						AATTCCAGTTCCAGCTTCACA	0.393000													39	72					0	0	1	0	0
RCOR3	55758	broad.mit.edu	37	1	211449723	211449723	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr1:211449723G>C	uc010psw.2	+	4	674	c.479G>C	c.(478-480)aGt>aCt	p.S160T	RCOR3_uc010psv.1_Non-coding_Transcript|RCOR3_uc001hie.3_Missense_Mutation_p.S160T|RCOR3_uc001hif.3_Missense_Mutation_p.S160T|RCOR3_uc001hig.3_Missense_Mutation_p.S102T	NM_001136223	NP_060724	Q9P2K3	RCOR3_HUMAN	Homo sapiens REST corepressor 3 (RCOR3), transcript variant 1, mRNA.	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.V160L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		CAAGCCTTTAGTTTTCATGGA	0.363000													8	72					0	0	1	0	0
CSGALNACT2	55454	broad.mit.edu	37	10	43659419	43659419	+	Missense_Mutation	SNP	G	G	T	rs80035763	byFrequency	TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr10:43659419G>T	uc001jan.3	+	4	1421	c.1086G>T	c.(1084-1086)ttG>ttT	p.L362F		NM_018590	NP_061060	Q8N6G5	CGAT2_HUMAN	Homo sapiens chondroitin sulfate N-acetylgalactosaminyltransferase 2 (CSGALNACT2), mRNA.	362					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding	p.L362F(10)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GAGAGGTCTTGATGTTTTTCT	0.433000													5	111					0.184627	0.186774	1	1	0
OR7G3	390883	broad.mit.edu	37	19	9237432	9237432	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr19:9237432G>C	uc010xkl.2	-	0	195	c.195C>G	c.(193-195)atC>atG	p.I65M		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S64S(1)		NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						CCAAGGACAGGATAGAGAGGA	0.547000													4	209					0	0	1	0	0
THSD7A	221981	broad.mit.edu	37	7	11675888	11675888	+	Silent	SNP	G	G	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr7:11675888G>A	uc021zzo.1	-	1	1143	c.891C>T	c.(889-891)cgC>cgT	p.R297R	THSD7A_uc021zzn.1_Silent_p.R297R	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	297						integral to membrane		p.R297C(1)		NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TAATAAGCTCGCGGGCTTCTG	0.463000										HNSCC(18;0.044)			20	20					0	0	1	0	0
GPR37L1	9283	broad.mit.edu	37	1	202097357	202097357	+	Silent	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr1:202097357C>T	uc001gxj.3	+	1	1182	c.1119C>T	c.(1117-1119)ctC>ctT	p.L373L		NM_004767	NP_004758	O60883	ETBR2_HUMAN	Homo sapiens G protein-coupled receptor 37 like 1 (GPR37L1), mRNA.	373						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						TCTGCACCCTCCCAGAGAACG	0.622000													6	85					0	0	1	0	0
KCNH8	131096	broad.mit.edu	37	3	19554559	19554559	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr3:19554559C>T	uc003cbk.1	+	12	2372	c.2177C>T	c.(2176-2178)tCc>tTc	p.S726F	KCNH8_uc010hex.1_Missense_Mutation_p.S187F	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	726						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						gaggCAGTCTCCCTCTCTCCC	0.532000													10	202					0	0	1	0	0
COL8A1	1295	broad.mit.edu	37	3	99514774	99514774	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr3:99514774G>A	uc003dti.1	+	2	2160	c.2032G>A	c.(2032-2034)Gct>Act	p.A678T	MIR548G_uc021xbq.1_Intron|COL8A1_uc003dtg.1_Missense_Mutation_p.A677T|COL8A1_uc003dth.1_Missense_Mutation_p.A677T	NM_020351	NP_065084	P27658	CO8A1_HUMAN	Homo sapiens collagen, type VIII, alpha 1 (COL8A1), transcript variant 2, mRNA.	677	C1q.|Nonhelical region (NC1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						CGTGTGGGTTGCTCTATTCAA	0.547000													66	25					0	0	1	0	0
EIF2C3	192669	broad.mit.edu	37	1	36475164	36475164	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr1:36475164C>T	uc001bzp.3	+	8	1463	c.1118C>T	c.(1117-1119)gCa>gTa	p.A373V	EIF2C3_uc001bzq.3_Missense_Mutation_p.A139V	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA.	373					mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	RNA binding|protein binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4)	33		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCAAGATCTGCACCAGATAGA	0.378000													79	121					0	0	1	0	0
KIAA1147	57189	broad.mit.edu	37	7	141365048	141365048	+	Silent	SNP	A	A	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr7:141365048A>T	uc003vwk.3	-	5	891	c.891T>A	c.(889-891)ccT>ccA	p.P297P		NM_001080392	NP_001073861	A4D1U4	LCHN_HUMAN	Homo sapiens KIAA1147 (KIAA1147), mRNA.	297										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					CGTAGAAGAAAGGTTTGGACT	0.597000													51	105					0	0	1	0	0
SIGLEC5	8778	broad.mit.edu	37	19	52131213	52131213	+	Missense_Mutation	SNP	T	T	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr19:52131213T>A	uc002pxe.3	-	4	1010	c.871A>T	c.(871-873)Acc>Tcc	p.T291S		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	291	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		GAGATGGGGGTGGCGTTCAGG	0.647000													27	38					0	0	1	0	0
C5AR1	728	broad.mit.edu	37	19	47823729	47823729	+	Missense_Mutation	SNP	G	G	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr19:47823729G>A	uc002pgj.1	+	1	744	c.695G>A	c.(694-696)cGc>cAc	p.R232H		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	232					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		ACGTGGAGCCGCAGGGCCACG	0.597000													4	121					0	0	1	0	0
DHTKD1	55526	broad.mit.edu	37	10	12139749	12139749	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr10:12139749G>C	uc001ild.4	+	7	1524	c.1425G>C	c.(1423-1425)gaG>gaC	p.E475D		NM_018706	NP_061176	Q96HY7	DHTK1_HUMAN	Homo sapiens dehydrogenase E1 and transketolase domain containing 1 (DHTKD1), nuclear gene encoding mitochondrial protein, mRNA.	475					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TGACGCAGGAGGAGGTGTCTG	0.488000													41	54					0	0	1	0	0
TGIF2	60436	broad.mit.edu	37	20	35219589	35219589	+	Missense_Mutation	SNP	C	C	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr20:35219589C>A	uc021wcv.1	+	2	683	c.469C>A	c.(469-471)Ctg>Atg	p.L157M	TGIF2_uc021wcu.1_Missense_Mutation_p.L157M|TGIF2_uc002xfn.3_Missense_Mutation_p.L157M|TGIF2_uc021wcw.1_Missense_Mutation_p.L157M|TGIF2_uc002xfo.3_Intron	NM_001199514	NP_001186443	Q9GZN2	TGIF2_HUMAN	Homo sapiens TGFB-induced factor homeobox 2 (TGIF2), transcript variant 1, mRNA.	157	Repressive function.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(3)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TCCCAAGCCCCTGGTGACCCC	0.632000													24	20					3.65163e-15	3.97115e-15	1	1	0
ALKBH8	91801	broad.mit.edu	37	11	107420530	107420530	+	Silent	SNP	A	A	G	rs645056	by1000genomes	TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr11:107420530A>G	uc010rvr.2	-	6	795	c.720T>C	c.(718-720)gaT>gaC	p.D240D	ALKBH8_uc001pjk.3_Intron|ALKBH8_uc010rvq.2_Silent_p.D103D|ALKBH8_uc009yxp.3_Silent_p.D240D|ALKBH8_uc001pjl.3_Intron	NM_138775	NP_620130	Q96BT7	ALKB8_HUMAN	Homo sapiens alkB, alkylation repair homolog 8 (E. coli) (ALKBH8), mRNA.	240	Fe2OG dioxygenase.				response to DNA damage stimulus	cytosol|nucleus	RNA binding|metal ion binding|nucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|protein binding|tRNA (uracil) methyltransferase activity			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		CGGAATGTGTATCAATATGAG	0.368000													3	63					0	0	1	0	0
CENPF	1063	broad.mit.edu	37	1	214815375	214815375	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr1:214815375G>T	uc001hkm.3	+	11	3868	c.3694G>T	c.(3694-3696)Gag>Tag	p.E1232*		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	1308					DNA replication|G2 phase of mitotic cell cycle|cell differentiation|cell division|cell proliferation|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.E1232*(2)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GAAGGAGAAGGAGTGCCTGCA	0.373000													26	63					9.65021e-13	1.02386e-12	1	1	0
CLDN11	5010	broad.mit.edu	37	3	170141043	170141043	+	Missense_Mutation	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr3:170141043C>T	uc003fgx.3	+	1	521	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	CLDN11_uc011bpt.1_Missense_Mutation_p.R107W|CLDN11_uc003fgy.3_Missense_Mutation_p.R23W	NM_005602	NP_001171985	O75508	CLD11_HUMAN	Homo sapiens claudin 11 (CLDN11), transcript variant 1, mRNA.	107					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TCCCTGCATCCGGATGGGCCA	0.607000													10	127					0	0	1	0	0
ORMDL3	94103	broad.mit.edu	37	17	38078866	38078866	+	Missense_Mutation	SNP	G	G	C			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr17:38078866G>C	uc002htj.2	-	3	569	c.399C>G	c.(397-399)agC>agG	p.S133R	ORMDL3_uc002hti.1_Non-coding_Transcript|ORMDL3_uc002htk.2_Missense_Mutation_p.S133R	NM_139280	NP_644809	Q8N138	ORML3_HUMAN	Homo sapiens ORM1-like 3 (S. cerevisiae) (ORMDL3), mRNA.	133					ceramide metabolic process	SPOTS complex|integral to membrane	protein binding	p.S133N(1)		endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			GGATAAGCACGCTCATCAGGG	0.557000													22	83					0	0	1	0	0
C11orf53	341032	broad.mit.edu	37	11	111156468	111156468	+	Missense_Mutation	SNP	A	A	C			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr11:111156468A>C	uc001plc.3	+	3	547	c.400A>C	c.(400-402)Agt>Cgt	p.S134R		NM_198498	NP_940900	Q8IXP5	CK053_HUMAN	Homo sapiens chromosome 11 open reading frame 53 (C11orf53), mRNA.	134										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		ACCCAGCACGAGTTGCCTCTC	0.632000													13	29					0	0	1	0	0
PTPRC	5788	broad.mit.edu	37	1	198678922	198678922	+	Silent	SNP	C	C	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr1:198678922C>T	uc001gur.1	+	10	1314	c.1134C>T	c.(1132-1134)aaC>aaT	p.N378N	PTPRC_uc001gut.1_Silent_p.N217N|PTPRC_uc009wzf.1_Silent_p.N266N|PTPRC_uc021pgy.1_Silent_p.N332N|PTPRC_uc010ppg.1_Silent_p.N314N	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	378					B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGTTTACTAACGCAAGTAAAA	0.269000													24	69					0	0	1	0	0
FGG	2266	broad.mit.edu	37	4	155526043	155526043	+	Silent	SNP	T	T	C			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr4:155526043T>C	uc003ioj.3	-	8	1446	c.1305A>G	c.(1303-1305)agA>agG	p.R435R	FGG_uc003iog.3_Intron	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	435	Platelet aggregation and Staphylococcus clumping.			R -> Y (in Ref. 15; AA sequence).	platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GGTGCTCTGGTCTGACCTGTT	0.433000													26	38					0	0	1	0	0
ZNF227	7770	broad.mit.edu	37	19	44739325	44739325	+	Nonsense_Mutation	SNP	A	A	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr19:44739325A>T	uc002oyu.3	+	5	947	c.742A>T	c.(742-744)Aaa>Taa	p.K248*	ZNF227_uc010xwu.2_Nonsense_Mutation_p.K197*|ZNF227_uc002oyv.3_Nonsense_Mutation_p.K248*|ZNF227_uc010xwv.2_Nonsense_Mutation_p.K197*|ZNF227_uc010xww.2_Nonsense_Mutation_p.K169*|ZNF227_uc002oyw.3_Nonsense_Mutation_p.K220*|ZNF227_uc010ejh.3_Nonsense_Mutation_p.K241*|ZNF235_uc002oyx.1_Intron	NM_182490	NP_872296	Q86WZ6	ZN227_HUMAN	Homo sapiens zinc finger protein 227 (ZNF227), mRNA.	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				CTTAGGAGAGAAACCCCATCC	0.428000													19	31					0	0	1	0	0
AMACR	23600	broad.mit.edu	37	5	34004755	34004755	+	Missense_Mutation	SNP	A	A	G	rs147265006	by1000genomes	TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr5:34004755A>G	uc003jij.3	-	2	572	c.476T>C	c.(475-477)aTg>aCg	p.M159T	AMACR_uc003jig.3_Missense_Mutation_p.M159T|AMACR_uc003jih.3_Intron|AMACR_uc003jik.2_Intron|AMACR_uc003jil.2_Missense_Mutation_p.M159T	NM_001167595	NP_001161067	Q9UHK6	AMACR_HUMAN	Homo sapiens alpha-methylacyl-CoA racemase (AMACR), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	159					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						CAGTGCACACATAAGGCCACC	0.463000													107	177					0	0	1	0	0
HELZ	9931	broad.mit.edu	37	17	65110487	65110487	+	Missense_Mutation	SNP	T	T	G			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr17:65110487T>G	uc010wqk.2	-	27	4061	c.3874A>C	c.(3874-3876)Att>Ctt	p.I1292L	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.I1291L	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ATCTTATTAATTTCAGGTCCG	0.348000													25	13					0	0	1	0	0
SETX	23064	broad.mit.edu	37	9	135163729	135163729	+	Missense_Mutation	SNP	A	A	G			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr9:135163729A>G	uc004cbk.3	-	16	6401	c.6218T>C	c.(6217-6219)tTa>tCa	p.L2073S	SETX_uc004cbj.3_Missense_Mutation_p.L1692S|SETX_uc010mzt.3_Missense_Mutation_p.L1692S	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	2073					RNA processing|cell death|double-strand break repair	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ATGAGAAGGTAACTCTTTTTC	0.358000													23	36					0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17086003	17086003	+	Silent	SNP	G	G	C	rs3982176		TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr1:17086003G>C	uc010ock.2	-	6	894	c.894C>G	c.(892-894)ggC>ggG	p.G298G	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.											breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						CCGCCCCCCCGCCCACCTCAC	0.657000													2	6					0	0	1	0	0
MFHAS1	9258	broad.mit.edu	37	8	8655002	8655002	+	Splice_Site	SNP	C	C	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr8:8655002C>A	uc003wsj.1	-	2	3562	c.2999_splice	c.e2-1	p.G1000_splice		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	Homo sapiens malignant fibrous histiocytoma amplified sequence 1 (MFHAS1), mRNA.	1000		Breakpoint for translocation to form chimeric MASL1.								endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		AGCAACTCCCCTGTAGGAGGA	0.547000													35	56					1.8453e-21	2.03216e-21	1	1	0
CREB3L3	84699	broad.mit.edu	37	19	4171149	4171149	+	Missense_Mutation	SNP	G	G	T			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr19:4171149G>T	uc002lzl.3	+	7	1068	c.952G>T	c.(952-954)Gcc>Tcc	p.A318S	CREB3L3_uc002lzm.3_Missense_Mutation_p.A308S|CREB3L3_uc010xib.2_Missense_Mutation_p.A307S|CREB3L3_uc010xic.2_Missense_Mutation_p.S273I	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	318					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGCAAGTCAGCCCAGACAGG	0.607000													33	54					1.67305e-13	1.79698e-13	1	1	0
IMMP2L	83943	broad.mit.edu	37	7	111161447	111161447	+	Silent	SNP	G	G	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr7:111161447G>A	uc003vfq.2	-	1	500	c.57C>T	c.(55-57)ttC>ttT	p.F19F	IMMP2L_uc010ljr.2_Silent_p.F19F|IMMP2L_uc003vfr.3_Silent_p.F19F	NM_032549	NP_115938	Q96T52	IMP2L_HUMAN	Homo sapiens IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae) (IMMP2L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	19					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		CCGCCACAAAGAAGCCTTTAC	0.433000													11	29					0	0	1	0	0
MFN1	55669	broad.mit.edu	37	3	179082985	179082985	+	Missense_Mutation	SNP	C	C	G			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr3:179082985C>G	uc003fjt.3	+	5	816	c.809C>G	c.(808-810)tCt>tGt	p.S270C	MFN1_uc003fjs.3_Missense_Mutation_p.S242C|MFN1_uc010hxb.3_Non-coding_Transcript|MFN1_uc010hxc.3_Missense_Mutation_p.S95C	NM_033540	NP_284941	Q8IWA4	MFN1_HUMAN	Homo sapiens mitofusin 1 (MFN1), nuclear gene encoding mitochondrial protein, mRNA.	242					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGGGATGCCTCTGCATCAGAG	0.328000													43	12					0	0	1	0	0
CROCCP2	84809	broad.mit.edu	37	1	16945182	16945184	+	RNA	DEL	AAT	AAT	-	rs59197507		TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr1:16945182_16945184delAAT	uc010ocf.2	-	3		c.973_975delATT			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.																		TACTGATGAAAATAATAACAGAT	0.325													2	4	---	---	---	---					
BAP1	8314	broad.mit.edu	37	3	52439271	52439271	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr3:52439271delG	uc003ddx.3	-	10	1086	c.971delC	c.(970-972)ccafs	p.P324fs	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.	324					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	p.P324fs*11(2)|p.A323fs*71(2)|p.P324fs*7(2)		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)		GCTGTGGGATGGGGCTTGTGC	0.592			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							60	21	---	---	---	---					
PPWD1	23398	broad.mit.edu	37	5	64867921	64867921	+	Frame_Shift_Del	DEL	C	C	-			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr5:64867921delC	uc003jtv.4	+	4	784	c.777delC	c.(775-777)ttcfs	p.F259fs	PPWD1_uc011cqv.2_Frame_Shift_Del_p.F229fs|PPWD1_uc011cqw.2_Frame_Shift_Del_p.F103fs	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN	Homo sapiens peptidylprolyl isomerase domain and WD repeat containing 1 (PPWD1), mRNA.	259					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		AATATAAATTCCCCAAAAATG	0.393													9	26	---	---	---	---					
GBF1	8729	broad.mit.edu	37	10	104123472	104123472	+	Frame_Shift_Del	DEL	A	A	-			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr10:104123472delA	uc001kux.2	+	16	2314	c.2020delA	c.(2020-2022)aaafs	p.K674fs	GBF1_uc001kuy.2_Frame_Shift_Del_p.K674fs|GBF1_uc001kuz.2_Frame_Shift_Del_p.K675fs	NM_004193	NP_004184	Q92538	GBF1_HUMAN	Homo sapiens golgi brefeldin A resistant guanine nucleotide exchange factor 1 (GBF1), transcript variant 1, mRNA.	674					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCTAGCTGACAAAAAGTTTGC	0.423													19	50	---	---	---	---					
CCDC168	643677	broad.mit.edu	37	13	103402101	103402102	+	Frame_Shift_Ins	INS	-	-	A			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr13:103402101_103402102insA	uc001vpm.3	-	3	1085_1086	c.945_946insT	c.(943-948)tttactfs	p.F315fs		NM_001146197	NP_001139669			Homo sapiens coiled-coil domain containing 168 (CCDC168), mRNA.																		GCTTGACTAGTAAATTGGACTT	0.391													9	17	---	---	---	---					
FLJ36000	284124	broad.mit.edu	37	17	21911266	21911267	+	RNA	INS	-	-	TGTGTG	rs66463211	by1000genomes	TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr17:21911266_21911267insTGTGTG	uc002gza.2	+	1		c.1994_1995insTGTGTG								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		gtttttgtttctgtgtgtgtgt	0.505													4	2	---	---	---	---					
LAMA3	3909	broad.mit.edu	37	18	21511115	21511115	+	Frame_Shift_Del	DEL	G	G	-			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr18:21511115delG	uc002kuq.3	+	64	8612	c.8526delG	c.(8524-8526)acgfs	p.T2842fs	LAMA3_uc002kur.3_Frame_Shift_Del_p.T2786fs|LAMA3_uc002kus.4_Frame_Shift_Del_p.T1233fs|LAMA3_uc002kut.4_Frame_Shift_Del_p.T1177fs	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2842	Laminin G-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCCACAGACGTATATGGATG	0.428													13	40	---	---	---	---					
LAMA3	3909	broad.mit.edu	37	18	21511118	21511118	+	Frame_Shift_Del	DEL	T	T	-			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr18:21511118delT	uc002kuq.3	+	64	8615	c.8529delT	c.(8527-8529)tatfs	p.Y2843fs	LAMA3_uc002kur.3_Frame_Shift_Del_p.Y2787fs|LAMA3_uc002kus.4_Frame_Shift_Del_p.Y1234fs|LAMA3_uc002kut.4_Frame_Shift_Del_p.Y1178fs	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2843	Laminin G-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACAGACGTATATGGATGGTT	0.428													13	45	---	---	---	---					
HNF4A	3172	broad.mit.edu	37	20	43052875	43052876	+	Frame_Shift_Ins	INS	-	-	C			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr20:43052875_43052876insC	uc002xma.3	+	7	1199_1200	c.1110_1111insC	c.(1108-1113)ttgcagfs	p.L370fs	HNF4A_uc002xlt.3_Frame_Shift_Ins_p.L348fs|HNF4A_uc002xlu.3_Frame_Shift_Ins_p.L348fs|HNF4A_uc002xlv.3_Frame_Shift_Ins_p.L348fs|HNF4A_uc002xly.3_Frame_Shift_Ins_p.L370fs|HNF4A_uc010ggq.3_Frame_Shift_Ins_p.L363fs|HNF4A_uc002xlz.3_Frame_Shift_Ins_p.L370fs	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	370					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|activating transcription factor binding|protein homodimerization activity|receptor binding|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ACAACCTGTTGCAGGAGATGCT	0.609													50	97	---	---	---	---					
NEFH	4744	broad.mit.edu	37	22	29885599	29885604	+	In_Frame_Del	DEL	AGGAAG	AGGAAG	-			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr22:29885599_29885604delAGGAAG	uc003afo.3	+	3	2041_2046	c.1970_1975delAGGAAG	c.(1969-1977)aaggaagag>aag	p.EE658del	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	664	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						TCCCCAGAGAAGGAAGAGGCCAAGTC	0.558													31	185	---	---	---	---					
NEFH	4744	broad.mit.edu	37	22	29885622	29885623	+	In_Frame_Ins	INS	-	-	AGGAAG			TCGA-MH-A560-01A-11D-A26P-10	TCGA-MH-A560-10A-01D-A26P-10								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf5deb22-f7eb-409d-a0e4-882716199c39	8fa7c1a8-e64c-4ee8-9012-187aa9da1210	g.chr22:29885622_29885623insAGGAAG	uc003afo.3	+	3	2064_2065	c.1993_1994insAGGAAG	c.(1993-1995)aag>aAGGAAGag	p.665_666insEE	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	671	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GTCCCCTGAGAAGGCCAAGTCC	0.579													10	269	---	---	---	---					
