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
SPICE1	152185	broad.mit.edu	37	3	113207801	113207801	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr3:113207801T>C	ENST00000295872.4	-	7	861	c.602A>G	c.(601-603)aAt>aGt	p.N201S		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	201					cell division|mitosis	centriole|spindle	protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						CCTGTCTGTATTCGTGTTAGA	0.358000													3	153					0	0	0.115264	0	0
SRRM2	23524	broad.mit.edu	37	16	2807800	2807800	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr16:2807800G>T	ENST00000301740.8	+	4	918	c.369G>T	c.(367-369)caG>caT	p.Q123H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	123						Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGACTCACCAgttggcagaat	0.443000													42	97					1.76056e-25	2.05398e-25	0.859065	1	0
PRDM9	56979	broad.mit.edu	37	5	23524563	23524563	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr5:23524563T>A	ENST00000296682.3	+	10	1253	c.1071T>A	c.(1069-1071)taT>taA	p.Y357*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	357	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGGTCTGGTATGGGGATGAAT	0.507000										HNSCC(3;0.000094)			10	128					0	0	0.387290	0	0
DCUN1D4	23142	broad.mit.edu	37	4	52777312	52777312	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr4:52777312T>C	ENST00000334635.5	+	9	872	c.692T>C	c.(691-693)cTt>cCt	p.L231P	DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P|DCUN1D4_ENST00000381441.3_Intron	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	231	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			ATCTGGCCCCTTTTTCCAGTT	0.383000													3	156					0	0	0.115264	0	0
OR10K1	391109	broad.mit.edu	37	1	158436162	158436162	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr1:158436162G>A	ENST00000289451.2	+	1	891	c.811G>A	c.(811-813)Gac>Aac	p.D271N		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TTCAAGCCAAGACACCCTAAT	0.418000													4	137					0	0	0.217242	0	0
OR10H2	26538	broad.mit.edu	37	19	15839268	15839268	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr19:15839268C>T	ENST00000305899.3	+	1	435	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R139W(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CATGAGCCCACGGGGCTGCGC	0.637000													4	89					0	0	0.184627	0	0
DNAH6	1768	broad.mit.edu	37	2	84811124	84811124	+	Splice_Site	SNP	T	T	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr2:84811124T>A	ENST00000389394.3	+	15	2368	c.2229_splice	c.e15-1	p.I744_splice	DNAH6_ENST00000398278.2_Splice_Site_p.I744_splice|DNAH6_ENST00000237449.6_Splice_Site_p.I744_splice	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	744	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						TCCATTTAGATTGAAAGCCTT	0.373000													18	71					0	0	0.608945	0	0
SPR	6697	broad.mit.edu	37	2	73115548	73115548	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr2:73115548G>A	ENST00000234454.5	+	2	483	c.410G>A	c.(409-411)aGc>aAc	p.S137N	SPR_ENST00000498749.1_Splice_Site	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	137					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity			lung(4)|ovary(2)	6						CTGACTTCCAGCGTCCTGAAG	0.562000											OREG0014704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	25	102					0	0	0.693898	0	0
COL9A1	1297	broad.mit.edu	37	6	70964879	70964879	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:70964879C>T	ENST00000357250.6	-	23	1743	c.1585G>A	c.(1585-1587)Ggt>Agt	p.G529S	COL9A1_ENST00000370499.4_Missense_Mutation_p.G286S|COL9A1_ENST00000320755.7_Missense_Mutation_p.G286S|COL9A1_ENST00000489611.1_5'UTR	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	529	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAGGGAGACCAGGAATTCCT	0.423000													33	218					0	0	0.796494	0	0
MT-ND4	4538	broad.mit.edu	37	MT	11403	11403	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chrM:11403G>A	ENST00000361381.2	+	1	644	c.644G>A	c.(643-645)tGa>tAa	p.215_215ins*						mitochondrially encoded NADH dehydrogenase 4											breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|prostate(1)	13						ACTCCACTTATGACTCCCTAA	0.443000													272	3					0	0	0.870114	0	0
MYBPC2	4606	broad.mit.edu	37	19	50940753	50940753	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr19:50940753C>T	ENST00000357701.5	+	6	538	c.487C>T	c.(487-489)Cag>Tag	p.Q163*		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	163					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGCCTCTGGGCAGAGTCTAGA	0.587000													5	11					0	0	0.248553	0	0
MAGEB18	286514	broad.mit.edu	37	X	26157885	26157885	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chrX:26157885C>A	ENST00000325250.1	+	2	970	c.783C>A	c.(781-783)aaC>aaA	p.N261K		NM_173699.3	NP_775970.1	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	261	MAGE.						protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AAGTGCCCAACAGTGATCCTC	0.488000													3	44					0.00909568	0.0103248	0.150653	1	0
HSP90B1	7184	broad.mit.edu	37	12	104336889	104336889	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr12:104336889A>G	ENST00000299767.5	+	13	1864	c.1682A>G	c.(1681-1683)aAg>aGg	p.K561R		NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	561					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CTTCTGAAAAAGGGCTATGAA	0.418000													4	223					0	0	0.184627	0	0
ZFP57	346171	broad.mit.edu	37	6	29641302	29641302	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:29641302C>A	ENST00000376883.1	-	6	937	c.526G>T	c.(526-528)Gtt>Ttt	p.V176F	ZFP57_ENST00000376881.3_Missense_Mutation_p.V176F|ZFP57_ENST00000488757.1_Missense_Mutation_p.V196F			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	112					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GGATTGTGAACAAACTGGTGG	0.542000													3	114					0.150653	0.154328	0.150653	1	0
ECE1	1889	broad.mit.edu	37	1	21573852	21573852	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr1:21573852A>G	ENST00000415912.2	-	9	1102	c.977T>C	c.(976-978)tTg>tCg	p.L326S	ECE1_ENST00000528294.1_5'UTR|ECE1_ENST00000436918.2_Missense_Mutation_p.L342S|ECE1_ENST00000374893.6_Missense_Mutation_p.L342S|ECE1_ENST00000357071.4_Missense_Mutation_p.L330S|ECE1_ENST00000264205.6_Missense_Mutation_p.L339S	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	342					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GGCGGGTGCCAAGGTCTGCAA	0.532000													3	96					0	0	0.184627	0	0
MT-ND1	4535	broad.mit.edu	37	MT	3880	3880	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chrM:3880G>A	ENST00000361390.2	+	1	574	c.574G>A	c.(574-576)Gag>Aag	p.192_192insK						mitochondrially encoded NADH dehydrogenase 1											breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34						CCACACTAGCAGAGACCAACC	0.512000													206	161					0	0	0.870114	0	0
ZNF267	10308	broad.mit.edu	37	16	31925925	31925925	+	Missense_Mutation	SNP	A	A	G			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr16:31925925A>G	ENST00000300870.10	+	4	564	c.355A>G	c.(355-357)Agg>Ggg	p.R119G	ZNF267_ENST00000394846.3_3'UTR|RP11-170L3.8_ENST00000575471.1_RNA	NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405.3	Q14586	ZN267_HUMAN	zinc finger protein 267	119					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AAGGTGGAAAAGGGAGGAGTG	0.378000													3	142					0	0	0.115264	0	0
ZBTB24	9841	broad.mit.edu	37	6	109802299	109802299	+	Missense_Mutation	SNP	T	T	C	rs141429160		TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:109802299T>C	ENST00000230122.3	-	2	1098	c.931A>G	c.(931-933)Atc>Gtc	p.I311V		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CTCTGGTGGATTGCTAAAAAG	0.458000													7	268					0	0	0.307466	0	0
MT-CYB	4519	broad.mit.edu	37	MT	15511	15511	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chrM:15511T>C	ENST00000361789.2	+	1	765	c.765T>C	c.(763-765)aaT>aaC	p.255_255insN						mitochondrially encoded cytochrome b											breast(6)|endometrium(25)|kidney(33)|prostate(1)	65						GACCCAGACAATTATACCCTA	0.468000											OREG0007583	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	127	218					0	0	0.870114	0	0
MEPCE	56257	broad.mit.edu	37	7	100028454	100028454	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr7:100028454G>C	ENST00000310512.2	+	1	1201	c.813G>C	c.(811-813)caG>caC	p.Q271H	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	271							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCACCACCAGCAGCAGCAGG	0.647000													5	289					0	0	0.217242	0	0
BAP1	8314	broad.mit.edu	37	3	52443600	52443600	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr3:52443600T>C	ENST00000460680.1	-	3	563	c.92A>G	c.(91-93)gAg>gGg	p.E31G	BAP1_ENST00000296288.5_Missense_Mutation_p.E31G	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	31					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	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.E31A(1)		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)		GTCGTAGATCTCCTCCACTTG	0.617000			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""							9	493					0	0	0.335167	0	0
OR51M1	390059	broad.mit.edu	37	11	5410737	5410737	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr11:5410737C>T	ENST00000328611.3	+	1	131	c.109C>T	c.(109-111)Cac>Tac	p.H37Y	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	37						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCATCAAACACTGGATTTT	0.423000													10	144					0	0	0.335167	0	0
CDK12	51755	broad.mit.edu	37	17	37682293	37682293	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr17:37682293G>A	ENST00000447079.4	+	13	3517	c.3484G>A	c.(3484-3486)Gaa>Aaa	p.E1162K	CDK12_ENST00000430627.2_Missense_Mutation_p.E1162K	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1162					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TGCCCTGACGGAAGCTACTTC	0.567000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			12	38					0	0	0.387290	0	0
SRRM1	10250	broad.mit.edu	37	1	24993386	24993386	+	Missense_Mutation	SNP	G	G	T	rs78787676	byFrequency	TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr1:24993386G>T	ENST00000323848.9	+	13	2024	c.1709G>T	c.(1708-1710)cGc>cTc	p.R570L	SRRM1_ENST00000374389.4_Missense_Mutation_p.R579L|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R582L	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	570	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	p.R570L(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTCGACGGCGCAGGACTCCC	0.557000													3	61					0.115264	0.121027	0.115264	1	0
SFMBT2	57713	broad.mit.edu	37	10	7412244	7412244	+	Splice_Site	SNP	T	T	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr10:7412244T>C	ENST00000361972.4	-	3	284	c.195_splice	c.e3+1	p.H65_splice	SFMBT2_ENST00000397160.3_Splice_Site_p.H65_splice|SFMBT2_ENST00000397167.1_Splice_Site_p.H65_splice|SFMBT2_ENST00000379713.3_Splice_Site_p.H65_splice|SFMBT2_ENST00000379711.2_Splice_Site_p.H65_splice	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	65					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TTTACATACGTGTTTGAATGA	0.473000													3	108					0	0	0.150653	0	0
POM121	9883	broad.mit.edu	37	7	72412636	72412636	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr7:72412636C>T	ENST00000395270.1	+	14	2350	c.1309C>T	c.(1309-1311)Caa>Taa	p.Q437*	POM121_ENST00000446813.1_Nonsense_Mutation_p.Q437*|POM121_ENST00000257622.4_Nonsense_Mutation_p.Q437*|POM121_ENST00000358357.3_Nonsense_Mutation_p.Q437*|POM121_ENST00000434423.2_Nonsense_Mutation_p.Q702*	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	702	Pore side (Potential).|Ser-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CGCCCCCAAGCAAAGCTTCCT	0.597000													5	113					0	0	0.217242	0	0
GRIA4	0	broad.mit.edu	37	11	105795388	105795388	+	Silent	SNP	C	C	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr11:105795388C>T	ENST00000393127.2	+	12	2186	c.1740C>T	c.(1738-1740)gaC>gaT	p.D580D	GRIA4_ENST00000530497.1_Silent_p.D580D|GRIA4_ENST00000525187.1_Silent_p.D580D|GRIA4_ENST00000282499.5_Silent_p.D580D	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	580					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	AGCCAGAGGACGGAAAGGAAG	0.473000													9	53					0	0	0.335167	0	0
ZBTB24	9841	broad.mit.edu	37	6	109787521	109787521	+	Missense_Mutation	SNP	G	G	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:109787521G>C	ENST00000230122.3	-	7	1794	c.1627C>G	c.(1627-1629)Caa>Gaa	p.Q543E		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		GTAGAGAGTTGATATGGCTGT	0.448000													5	177					0	0	0.278610	0	0
BTBD7	55727	broad.mit.edu	37	14	93717850	93717850	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr14:93717850T>C	ENST00000334746.5	-	8	2208	c.1901A>G	c.(1900-1902)aAc>aGc	p.N634S	BTBD7_ENST00000554565.1_Missense_Mutation_p.N283S|BTBD7_ENST00000393170.2_Missense_Mutation_p.N208S	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	634										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTTGACTGGTTGCTGCTGAT	0.418000													40	239					0	0	0.859065	0	0
BMS1	9790	broad.mit.edu	37	10	43318571	43318571	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr10:43318571G>A	ENST00000374518.4	+	20	3201	c.3138G>A	c.(3136-3138)atG>atA	p.M1046I		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor	1046					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity	p.M1046I(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TGTAGGGAATGTTTAATTCTG	0.393000													5	179					0	0	0.278610	0	0
RALGAPA2	57186	broad.mit.edu	37	20	20621386	20621386	+	Missense_Mutation	SNP	G	G	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr20:20621386G>T	ENST00000202677.6	-	6	651	c.509C>A	c.(508-510)aCa>aAa	p.T170K		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	170					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGTCTCCAGTGTGCAAGGGCC	0.468000													3	116					0.115264	0.121027	0.115264	1	0
RMND1	55005	broad.mit.edu	37	6	151726916	151726916	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr6:151726916T>G	ENST00000367303.4	-	11	1378	c.1256A>C	c.(1255-1257)cAc>cCc	p.H419P	RMND1_ENST00000336451.3_Missense_Mutation_p.H208P	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	419										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		CTCATTCAGGTGATTCCGCAT	0.373000													10	43					0	0	0.361761	0	0
MROH2B	133558	broad.mit.edu	37	5	41065518	41065518	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr5:41065518C>A	ENST00000399564.4	-	4	726	c.276G>T	c.(274-276)atG>atT	p.M92I		NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		GTACTTCATACATCACAGAGT	0.418000													3	79					0.115264	0.121027	0.115264	1	0
CCDC74B-AS1	0	broad.mit.edu	37	2	130893081	130893082	+	RNA	DEL	AA	AA	-			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr2:130893081_130893082delAA	ENST00000427638.1	+	0	542_543					NR_033903.1																						actccatctcaaaaaaaaaaaa	0.559													2	4	---	---	---	---					
LINC00620	0	broad.mit.edu	37	3	13716891	13716891	+	RNA	DEL	C	C	-			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr3:13716891delC	ENST00000419618.1	+	0	113				LINC00620_ENST00000438915.1_RNA	NR_027103.1																						ACATAATCAGCCCCCCCGGCC	0.592													2	4	---	---	---	---					
KMT2C	58508	broad.mit.edu	37	7	151970890	151970891	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr7:151970890_151970891insT	ENST00000355193.2	-	7	1129_1130	c.911_912insA	c.(910-912)catfs	p.H304fs	KMT2C_ENST00000262189.6_Frame_Shift_Ins_p.H304fs					lysine (K)-specific methyltransferase 2C																		AATGATACATCTGGGTACATTT	0.436													7	318	---	---	---	---					
RP11-958J22.1	0	broad.mit.edu	37	11	45536103	45536103	+	RNA	DEL	T	T	-			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr11:45536103delT	ENST00000533315.1	-	0	490																											TTGTTGTACCTTTTTTTAAGC	0.378													2	4	---	---	---	---					
POLD3	10714	broad.mit.edu	37	11	74336608	74336609	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr11:74336608_74336609insA	ENST00000263681.2	+	8	1018_1019	c.889_890insA	c.(889-891)aaafs	p.K297fs	POLD3_ENST00000532497.1_Frame_Shift_Ins_p.K191fs|POLD3_ENST00000527458.1_Frame_Shift_Ins_p.K258fs	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	297					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					GCTGCAGAAGGAAAAAAAAAGG	0.460													7	57	---	---	---	---					
DNM1P47	0	broad.mit.edu	37	15	102299886	102299887	+	RNA	INS	-	-	G			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr15:102299886_102299887insG	ENST00000561463.1	+	0	7932_7933																											AACCTGTACTCGCGTCGGAACC	0.589													3	6	---	---	---	---					
RP11-252A24.2	0	broad.mit.edu	37	16	74372915	74372915	+	RNA	DEL	T	T	-	rs67181940		TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr16:74372915delT	ENST00000429810.2	-	0	1404																											ACGTAGtttgttttttttttt	0.438													6	3	---	---	---	---					
PIEZO1	9780	broad.mit.edu	37	16	88789666	88789667	+	In_Frame_Ins	INS	-	-	CCTGCT	rs143959641	by1000genomes	TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr16:88789666_88789667insCCTGCT	ENST00000301015.9	-	32	4651_4652	c.4405_4406insAGCAGG	c.(4405-4407)aag>AGCAGGaag	p.1468_1469insSR		NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	1468						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|plasma membrane	ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						TTCCTGCCTTGCCTGCTCCTGC	0.693													3	4	---	---	---	---					
LSR	51599	broad.mit.edu	37	19	35753538	35753540	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr19:35753538_35753540delTGC	ENST00000602122.1	+	4	1295_1297	c.808_810delTGC	c.(808-810)del	p.C272del	LSR_ENST00000427250.1_Intron|LSR_ENST00000361790.3_In_Frame_Del_p.C291del|LSR_ENST00000360798.3_Intron|LSR_ENST00000354900.3_In_Frame_Del_p.C272del|LSR_ENST00000347609.4_In_Frame_Del_p.C254del|LSR_ENST00000597933.1_3'UTR			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	291					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCGCACACTTGCTGCTGCTACG	0.621													8	143	---	---	---	---					
CTC-512J12.4	0	broad.mit.edu	37	19	44915710	44915710	+	RNA	DEL	C	C	-			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chr19:44915710delC	ENST00000588655.1	-	0	488																											tactctccaaccacgcccaga	0.542													3	3	---	---	---	---					
TXLNG2P	0	broad.mit.edu	37	Y	21758004	21758005	+	RNA	DEL	AG	AG	-			TCGA-EM-A3O9-01A-11D-A21Z-08	TCGA-EM-A3O9-10A-01D-A21Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41f16ea2-75e3-4257-b53d-2fe305ce9ff4	e91ddb5f-f587-4569-98ea-7473379e654f	g.chrY:21758004_21758005delAG	ENST00000253320.4	+	0	3085_3086							Q9BZA5	CY15A_HUMAN												haematopoietic_and_lymphoid_tissue(1)	1						GAAAGACATCAGAGAGAGAGAG	0.347													2	4	---	---	---	---					
