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
LCE2D	353141	broad.mit.edu	37	1	152636831	152636831	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr1:152636831C>T	ENST00000368784.1	+	2	305	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	84	Cys-rich.				keratinization					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTCCACCGGCGCCGGCACCA	0.682													8	86	---	---	---	---
NFASC	23114	broad.mit.edu	37	1	204985658	204985658	+	Silent	SNP	T	T	C			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr1:204985658T>C	ENST00000367172.4	+	32	4363	c.4035T>C	c.(4033-4035)tcT>tcC	p.S1345S	NFASC_ENST00000513543.1_Silent_p.S1167S|NFASC_ENST00000367169.4_Silent_p.S1069S|NFASC_ENST00000360049.4_Silent_p.S1167S|NFASC_ENST00000539706.1_Silent_p.S1172S|NFASC_ENST00000404076.1_Silent_p.S1155S|NFASC_ENST00000338586.6_Silent_p.S1222S|NFASC_ENST00000495396.1_3'UTR|NFASC_ENST00000404907.1_Silent_p.S1172S|NFASC_ENST00000367171.4_Silent_p.S1330S|NFASC_ENST00000367170.4_Silent_p.S1266S|NFASC_ENST00000401399.1_Silent_p.S1238S|NFASC_ENST00000338515.6_Silent_p.S1255S|NFASC_ENST00000339876.6_Silent_p.S1238S			O94856	NFASC_HUMAN	neurofascin	1345					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CTATCTACTCTCTGGCCTAAC	0.567													8	29	---	---	---	---
LY75	4065	broad.mit.edu	37	2	160737746	160737746	+	Missense_Mutation	SNP	T	T	C			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr2:160737746T>C	ENST00000263636.4	-	8	1279	c.1252A>G	c.(1252-1254)Aaa>Gaa	p.K418E	LY75_ENST00000554112.1_Missense_Mutation_p.K418E|LY75_ENST00000553424.1_Missense_Mutation_p.K418E|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.K418E|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.K418E	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ACTTCTTCTTTGATATCTAAA	0.284													6	79	---	---	---	---
ITGAV	3685	broad.mit.edu	37	2	187495563	187495563	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr2:187495563G>A	ENST00000261023.3	+	5	837	c.563G>A	c.(562-564)gGa>gAa	p.G188E	ITGAV_ENST00000374907.3_Intron|ITGAV_ENST00000433736.2_Missense_Mutation_p.G142E	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	188					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TGTCAAGGAGGATTCAGCATT	0.303													16	169	---	---	---	---
HEMK1	51409	broad.mit.edu	37	3	50615277	50615277	+	Missense_Mutation	SNP	T	T	G			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr3:50615277T>G	ENST00000232854.4	+	7	1187	c.635T>G	c.(634-636)aTt>aGt	p.I212S	HEMK1_ENST00000434410.1_Missense_Mutation_p.I212S|HEMK1_ENST00000455834.1_Missense_Mutation_p.I212S	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	212					DNA methylation		DNA binding|N-methyltransferase activity|protein methyltransferase activity			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		CAGGACAGGATTTGGATCATC	0.557													5	103	---	---	---	---
FAT4	79633	broad.mit.edu	37	4	126241810	126241810	+	Missense_Mutation	SNP	A	A	C			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr4:126241810A>C	ENST00000394329.3	+	1	4257	c.4244A>C	c.(4243-4245)gAc>gCc	p.D1415A		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1415	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GACTTTAATGACAATCCTCCT	0.398													4	188	---	---	---	---
ADAM29	11086	broad.mit.edu	37	4	175896818	175896818	+	Missense_Mutation	SNP	C	C	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr4:175896818C>A	ENST00000359240.3	+	5	812	c.142C>A	c.(142-144)Cct>Act	p.P48T	ADAM29_ENST00000445694.1_Missense_Mutation_p.P48T|ADAM29_ENST00000404450.4_Missense_Mutation_p.P48T|ADAM29_ENST00000514159.1_Missense_Mutation_p.P48T	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	48					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AGGCATGACACCTCCAGGCTG	0.512													3	42	---	---	---	---
HEXB	3074	broad.mit.edu	37	5	74014787	74014787	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr5:74014787G>A	ENST00000511181.1	+	11	1645	c.733G>A	c.(733-735)Gat>Aat	p.D245N	HEXB_ENST00000261416.7_Missense_Mutation_p.D470N|HEXB_ENST00000513539.1_3'UTR			P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)	470					cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		GGAACCTCTTGATTTTGGCGG	0.413													7	95	---	---	---	---
FBXW11	23291	broad.mit.edu	37	5	171299876	171299876	+	Splice_Site	SNP	C	C	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr5:171299876C>A	ENST00000296933.6	-	9	1608	c.1238G>T	c.(1237-1239)aGg>aTg	p.R413M	FBXW11_ENST00000425623.2_Splice_Site_p.R394M|FBXW11_ENST00000265094.5_Splice_Site_p.R426M|FBXW11_ENST00000393802.2_Splice_Site_p.R392M	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	426					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTCTACCCACCTAATGGTATT	0.463													4	30	---	---	---	---
AZGP1P1	646282	broad.mit.edu	37	7	99578417	99578417	+	RNA	SNP	C	C	G			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr7:99578417C>G	ENST00000425474.1	+	0	33					NR_036679.1																						GGTGTCTGTCCTGCTGTCTCT	0.582													14	155	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100682744	100682744	+	Missense_Mutation	SNP	C	C	T	rs71286275		TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr7:100682744C>T	ENST00000306151.4	+	3	8111	c.8047C>T	c.(8047-8049)Cca>Tca	p.P2683S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2683	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P2683S(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TAGCAGCATGCCAACCTCAAC	0.493													6	351	---	---	---	---
TRBV29-1	28558	broad.mit.edu	37	7	142448468	142448468	+	RNA	SNP	A	A	C			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr7:142448468A>C	ENST00000422143.2	+	0	129																											GTCATCTCTCAAAAGCCAAGC	0.517													13	91	---	---	---	---
PROSC	11212	broad.mit.edu	37	8	37632949	37632949	+	Missense_Mutation	SNP	A	A	G			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr8:37632949A>G	ENST00000328195.3	+	6	614	c.547A>G	c.(547-549)Ata>Gta	p.I183V		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	183							pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	GCTGATGACCATAGGAAGCTT	0.517													13	183	---	---	---	---
EFCAB1	79645	broad.mit.edu	37	8	49641689	49641689	+	Missense_Mutation	SNP	C	C	G			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr8:49641689C>G	ENST00000433756.1	-	4	491	c.332G>C	c.(331-333)gGg>gCg	p.G111A	EFCAB1_ENST00000262103.3_Missense_Mutation_p.G163A|EFCAB1_ENST00000523092.1_Missense_Mutation_p.G111A|EFCAB1_ENST00000521002.1_Intron	NM_001142857.1	NP_001136329.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	163	EF-hand 2.						calcium ion binding			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				AGACAGCTTCCCATCATGGTC	0.408													3	50	---	---	---	---
KIAA2026	158358	broad.mit.edu	37	9	5919991	5919991	+	Nonsense_Mutation	SNP	G	G	C			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr9:5919991G>C	ENST00000399933.3	-	8	6004	c.6005C>G	c.(6004-6006)tCa>tGa	p.S2002*	KIAA2026_ENST00000381461.2_Nonsense_Mutation_p.S1972*	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	2002										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TGAAGTCAGTGATACTGTTGG	0.433													7	103	---	---	---	---
ASTN2	23245	broad.mit.edu	37	9	119202943	119202943	+	Missense_Mutation	SNP	G	G	T			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr9:119202943G>T	ENST00000313400.4	-	22	3827	c.3727C>A	c.(3727-3729)Cac>Aac	p.H1243N	ASTN2_ENST00000288520.5_Missense_Mutation_p.H344N|ASTN2_ENST00000341734.4_Missense_Mutation_p.H295N|ASTN2_ENST00000361209.2_Missense_Mutation_p.H1192N|ASTN2_ENST00000361477.3_Missense_Mutation_p.H295N|ASTN2_ENST00000373996.3_Missense_Mutation_p.H1239N			O75129	ASTN2_HUMAN	astrotactin 2	1243						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						TTTTCATAGTGAGAGTTGTAG	0.512													7	58	---	---	---	---
CRAT	1384	broad.mit.edu	37	9	131860406	131860406	+	Silent	SNP	G	G	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr9:131860406G>A	ENST00000318080.2	-	11	1644	c.1350C>T	c.(1348-1350)gcC>gcT	p.A450A	RP11-247A12.1_ENST00000434250.1_RNA	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	450					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TTTCATAGGTGGCACATGCCT	0.627													7	139	---	---	---	---
DDX6	1656	broad.mit.edu	37	11	118636057	118636057	+	Missense_Mutation	SNP	A	A	C			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr11:118636057A>C	ENST00000264018.4	-	6	811	c.506T>G	c.(505-507)gTg>gGg	p.V169G	DDX6_ENST00000534980.1_Missense_Mutation_p.V169G|DDX6_ENST00000526070.2_Missense_Mutation_p.V169G	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	169	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GGGAACAATCACCATTGCTGA	0.408			T	IGH@	B-NHL								27	142	---	---	---	---
FREM2	341640	broad.mit.edu	37	13	39265100	39265100	+	Missense_Mutation	SNP	G	G	C			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr13:39265100G>C	ENST00000280481.7	+	1	3835	c.3619G>C	c.(3619-3621)Gta>Cta	p.V1207L		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1207					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CATGAGTCTGGTAATTGATAC	0.418													46	293	---	---	---	---
ARHGAP5	394	broad.mit.edu	37	14	32560879	32560879	+	Missense_Mutation	SNP	G	G	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr14:32560879G>A	ENST00000345122.3	+	2	1319	c.1004G>A	c.(1003-1005)aGa>aAa	p.R335K	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.R335K|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.R335K|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.R335K	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	335					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGAAAAAGGAGAGAAGAGTAT	0.313													11	88	---	---	---	---
SPTB	6710	broad.mit.edu	37	14	65270402	65270402	+	Missense_Mutation	SNP	T	T	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr14:65270402T>A	ENST00000389722.3	-	3	450	c.397A>T	c.(397-399)Atg>Ttg	p.M133L	SPTB_ENST00000542895.1_Missense_Mutation_p.M133L|SPTB_ENST00000389720.3_Missense_Mutation_p.M133L|SPTB_ENST00000389721.5_Missense_Mutation_p.M133L|SPTB_ENST00000556626.1_Missense_Mutation_p.M133L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	133	Actin-binding.|CH 1.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGGGAGCCCATGTTCTCCAGG	0.597													4	42	---	---	---	---
SNHG14	104472715	broad.mit.edu	37	15	25321077	25321077	+	RNA	SNP	G	G	C			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr15:25321077G>C	ENST00000549804.2	+	0	1109				SNORD116-11_ENST00000383882.1_RNA																							ACTGTGCATGGATCAATGATG	0.448													6	50	---	---	---	---
AQR	9716	broad.mit.edu	37	15	35207358	35207358	+	Silent	SNP	C	C	T			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr15:35207358C>T	ENST00000156471.5	-	16	1590	c.1365G>A	c.(1363-1365)ttG>ttA	p.L455L		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	455						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ACTGCAAATTCAATTTGGGAA	0.363													3	41	---	---	---	---
SNX22	79856	broad.mit.edu	37	15	64445496	64445496	+	Missense_Mutation	SNP	G	G	T			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr15:64445496G>T	ENST00000325881.4	+	4	376	c.317G>T	c.(316-318)aGa>aTa	p.R106I		NM_024798.2	NP_079074.2	Q96L94	SNX22_HUMAN	sorting nexin 22	106	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			large_intestine(3)|lung(1)|urinary_tract(2)	6						GAATTCCTGAGACTTCGGCAC	0.597													3	40	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102291938	102291938	+	RNA	SNP	G	G	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr15:102291938G>A	ENST00000561463.1	+	0	704																											TGCATGCACCGCCTCATGGGG	0.587													5	29	---	---	---	---
CD68	968	broad.mit.edu	37	17	7484694	7484694	+	Splice_Site	SNP	A	A	T			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr17:7484694A>T	ENST00000250092.6	+	6	1142		c.e6-1		CD68_ENST00000380498.6_Splice_Site	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule							endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane				endometrium(1)|lung(1)|skin(1)	3						TCCTTCCGCCAGGTTTCTCCT	0.567													4	160	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10355471	10355471	+	Silent	SNP	G	G	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr17:10355471G>A	ENST00000255381.2	-	27	3635	c.3525C>T	c.(3523-3525)ttC>ttT	p.F1175F	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1175					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCATTTTCTGGAACTCAGCCT	0.597													5	161	---	---	---	---
TMEM132E	124842	broad.mit.edu	37	17	32964623	32964623	+	Missense_Mutation	SNP	C	C	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr17:32964623C>A	ENST00000321639.5	+	10	2655	c.2327C>A	c.(2326-2328)cCc>cAc	p.P776H		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	776						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTCGTGCCACCCACAGAAGAC	0.736													4	27	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8130923	8130923	+	Silent	SNP	A	A	C			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr19:8130923A>C	ENST00000600128.1	-	64	8724	c.8310T>G	c.(8308-8310)ccT>ccG	p.P2770P	FBN3_ENST00000601739.1_Silent_p.P2770P|FBN3_ENST00000270509.2_Silent_p.P2770P			Q75N90	FBN3_HUMAN	fibrillin 3	2770						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGTAGGTTCCAGGCCCCGGCC	0.677													14	51	---	---	---	---
SLC44A2	57153	broad.mit.edu	37	19	10747165	10747165	+	Missense_Mutation	SNP	C	C	T			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr19:10747165C>T	ENST00000586078.1	+	15	1509	c.1400C>T	c.(1399-1401)aCg>aTg	p.T467M	SLC44A2_ENST00000335757.5_Missense_Mutation_p.T467M|SLC44A2_ENST00000407327.4_Missense_Mutation_p.T465M	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	467					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GGCCAGGTCACGCTGGCCGGG	0.667													9	82	---	---	---	---
ZNF112	7665	broad.mit.edu	37	19	44832431	44832431	+	Missense_Mutation	SNP	C	C	G			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr19:44832431C>G	ENST00000354340.4	-	4	1930	c.1879G>C	c.(1879-1881)Gga>Cga	p.G627R	ZNF112_ENST00000337401.4_Missense_Mutation_p.G633R|ZNF112_ENST00000536500.1_Missense_Mutation_p.G650R	NM_013380.3	NP_037512.3			zinc finger protein 112																		GGTTTTTCTCCAGTGTGGACT	0.453													11	232	---	---	---	---
ZNF417	147687	broad.mit.edu	37	19	58420529	58420529	+	Missense_Mutation	SNP	C	C	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr19:58420529C>A	ENST00000312026.5	-	3	1281	c.1117G>T	c.(1117-1119)Gtt>Ttt	p.V373F	ZNF417_ENST00000536263.1_Missense_Mutation_p.V174F|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.V372F	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		CCAGTGTGAACACGCTGATGG	0.448													10	192	---	---	---	---
MYH9	4627	broad.mit.edu	37	22	36708179	36708179	+	Missense_Mutation	SNP	T	T	A			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr22:36708179T>A	ENST00000216181.5	-	14	1873	c.1643A>T	c.(1642-1644)cAg>cTg	p.Q548L		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	548	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCCCTGCTCCTGCATCACCTT	0.607			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated				8	64	---	---	---	---
TLR8	51311	broad.mit.edu	37	X	12938245	12938245	+	Silent	SNP	C	C	T			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chrX:12938245C>T	ENST00000218032.6	+	2	1173	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N	TLR8_ENST00000311912.5_Silent_p.N380N	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	362					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TTTCCAGAAACTTCTCTAAAC	0.403													11	106	---	---	---	---
DDX53	168400	broad.mit.edu	37	X	23018291	23018291	+	Missense_Mutation	SNP	G	G	T			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chrX:23018291G>T	ENST00000327968.5	+	1	205	c.117G>T	c.(115-117)caG>caT	p.Q39H	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	39						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						TCGGCCATCAGGGACCGAGAG	0.542													4	13	---	---	---	---
ERCC6L	54821	broad.mit.edu	37	X	71425375	71425375	+	Missense_Mutation	SNP	C	C	G			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chrX:71425375C>G	ENST00000373657.1	-	3	3475	c.2873G>C	c.(2872-2874)aGt>aCt	p.S958T	ERCC6L_ENST00000334463.3_Missense_Mutation_p.S1081T|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	1081					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					ATTTACACTACTGGGTATTTG	0.388													9	60	---	---	---	---
ASPA	443	broad.mit.edu	37	17	3386885	3386885	+	Splice_Site	DEL	G	G	-			TCGA-M7-A721-01A-12D-A32B-08	TCGA-M7-A721-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	292347c6-bf93-4cea-a220-25a1054e259c	aee1ef24-f3b6-446c-8ea1-d1d713c501db	g.chr17:3386885delG	ENST00000263080.2	+	3	683	c.525delG	c.(523-525)gtg>gt	p.V175fs	ASPA_ENST00000456349.2_Splice_Site_p.V175fs|SPATA22_ENST00000541913.1_Intron	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	175					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	AGTATCCTGTGGGTAAGTCAT	0.383													12	113	---	---	---	---
