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
MFAP3L	9848	broad.mit.edu	37	4	170913279	170913279	+	Silent	SNP	G	G	A			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr4:170913279G>A	uc003isp.4	-	2	658	c.480C>T	c.(478-480)gcC>gcT	p.A160A	MFAP3L_uc003isn.4_Silent_p.A57A|MFAP3L_uc021xuj.1_Silent_p.A57A	NM_021647	NP_001009554	O75121	MFA3L_HUMAN	Homo sapiens microfibrillar-associated protein 3-like (MFAP3L), transcript variant 1, mRNA.	160						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CGATGGTGAAGGCCACCAGGC	0.512000													7	159					0	0	1	0	0
SCN9A	6335	broad.mit.edu	37	2	167055182	167055182	+	Nonstop_Mutation	SNP	C	C	G			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr2:167055182C>G	uc010fpl.3	-	26	6275	c.5934G>C	c.(5932-5934)taG>taC	p.*1978Y	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	0						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AAATGAAGCTCTATTTTTTGC	0.318000													11	17					0	0	1	0	0
ANKRD42	338699	broad.mit.edu	37	11	82959006	82959006	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr11:82959006C>T	uc001ozz.1	+	9	1555	c.1133C>T	c.(1132-1134)gCc>gTc	p.A378V	ANKRD42_uc010rsv.1_Silent_p.G448G|ANKRD42_uc001paa.3_Silent_p.G448G|ANKRD42_uc001pab.1_Silent_p.G447G	NM_182603	NP_872409	Q8N9B4	ANR42_HUMAN	Homo sapiens ankyrin repeat domain 42 (ANKRD42), mRNA.	378										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						AACTGCAGGGCCAGCTGGAGT	0.343000													3	38					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25380276	25380276	+	Missense_Mutation	SNP	T	T	C	rs121913240		TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr12:25380276T>C	uc001rgp.1	-	2	363	c.182A>G	c.(181-183)cAa>cGa	p.Q61R	KRAS_uc001rgq.1_Missense_Mutation_p.Q61R	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	61			Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation).		Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway	plasma membrane	GTP binding|GTPase activity|protein binding	p.Q61H(208)|p.Q61L(144)|p.Q61R(112)|p.Q61K(32)|p.Q61P(24)|p.Q61E(10)|p.G60D(2)|p.G60V(1)|p.Q61D(1)|p.G60G(1)|p.G60A(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GTACTCCTCTTGACCTGCTGT	0.418000	Q61L(NCIH650_LUNG)|Q61L(SW948_LARGE_INTESTINE)|Q61R(PANC0213_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			34	76					0	0	1	0	0
RPUSD1	113000	broad.mit.edu	37	16	837367	837367	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr16:837367G>A	uc002cka.3	-	1	527	c.293C>T	c.(292-294)gCt>gTt	p.A98V	RPUSD1_uc002ckb.3_Missense_Mutation_p.A98V|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.4_5'Flank|CHTF18_uc002ckf.4_5'Flank|CHTF18_uc010brf.3_5'Flank|CHTF18_uc002ckg.4_5'Flank	NM_058192	NP_478072	Q9UJJ7	RUSD1_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 1 (RPUSD1), mRNA.	98					pseudouridine synthesis		RNA binding|pseudouridine synthase activity			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				TGCCAGGTAAGCCTTGGTCAC	0.657000													8	14					0	0	1	0	0
APOBEC3F	200316	broad.mit.edu	37	22	39475061	39475061	+	Missense_Mutation	SNP	C	C	A			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr22:39475061C>A	uc021wpr.1	+	1	435	c.142C>A	c.(142-144)Cct>Act	p.P48T	APOBEC3F_uc003awx.3_Missense_Mutation_p.P48T|APOBEC3F_uc003awy.3_5'Flank	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.	48					DNA cytosine deamination|base conversion or substitution editing|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	RNA binding|cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					CTCAAGGCCCCCTTTGGACGC	0.507000													3	51					0	0	1	0	0
ADM	133	broad.mit.edu	37	11	10327267	10327267	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr11:10327267C>T	uc001mil.1	+	1	176	c.20C>T	c.(19-21)gCc>gTc	p.A7V		NM_001124	NP_001115	P35318	ADML_HUMAN	Homo sapiens adrenomedullin (ADM), mRNA.	7					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GTTTCCGTCGCCCTGATGTAC	0.642000													43	56					0	0	1	0	0
HLA-DMA	3108	broad.mit.edu	37	6	32917464	32917464	+	Silent	SNP	G	G	A			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr6:32917464G>A	uc003ocm.2	-	2	662	c.576C>T	c.(574-576)ttC>ttT	p.F192F	HLA-DMA_uc011dqm.1_3'UTR	NM_006120	NP_006111	Q31604	Q31604_HUMAN	Homo sapiens major histocompatibility complex, class II, DM alpha (HLA-DMA), mRNA.	192						MHC class II protein complex|integral to membrane				kidney(1)|large_intestine(2)|lung(8)	11						GTTCTGGTGTGAAGTTTAAGT	0.478000													4	102					0	0	1	0	0
ABCF1	23	broad.mit.edu	37	6	30553911	30553911	+	Splice_Site	SNP	G	G	C			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr6:30553911G>C	uc003nql.3	+	18	1809	c.1714_splice	c.e18-1	p.E572_splice	ABCF1_uc003nqm.3_Splice_Site_p.E534_splice	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.	572					inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						TCCTCTCCAGGAAAAACAAAC	0.552000													29	40					0	0	1	0	0
MITF	4286	broad.mit.edu	37	3	69987187	69987187	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr3:69987187A>G	uc003dnz.3	+	2	732	c.569A>G	c.(568-570)aAc>aGc	p.N190S	MITF_uc011bgb.2_Missense_Mutation_p.N138S|MITF_uc003doa.3_Missense_Mutation_p.N189S|MITF_uc003dob.3_Missense_Mutation_p.N174S|MITF_uc021xam.1_Intron|MITF_uc003doe.3_Missense_Mutation_p.N83S|MITF_uc003dof.3_Missense_Mutation_p.N83S|MITF_uc021xal.1_Missense_Mutation_p.N83S	NM_198159	NP_001171896	O75030	MITF_HUMAN	Homo sapiens microphthalmia-associated transcription factor (MITF), transcript variant 1, mRNA.	190					melanocyte differentiation|multicellular organismal development|protein complex assembly	nucleus|protein complex	DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(6)|stomach(1)|urinary_tract(2)	30		Lung NSC(201;0.0384)|Prostate(884;0.0526)		BRCA - Breast invasive adenocarcinoma(55;3.07e-05)|Epithelial(33;0.000138)|LUSC - Lung squamous cell carcinoma(21;0.008)|Lung(16;0.0107)|KIRC - Kidney renal clear cell carcinoma(39;0.204)|Kidney(39;0.239)		CTTAACTCCAACTGTGAAAAA	0.488000			A		melanoma		"""Waardenburg syndrome type 2, Tietz syndrome"""						41	70					0	0	1	0	0
KIAA0895L	653319	broad.mit.edu	37	16	67213988	67213988	+	Missense_Mutation	SNP	C	C	T			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr16:67213988C>T	uc002ert.3	-	1	1361	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	KIAA0895L_uc002err.3_5'Flank|KIAA0895L_uc002ers.3_5'Flank|KIAA0895L_uc002eru.3_Missense_Mutation_p.V176M|EXOC3L1_uc002erv.1_Non-coding_Transcript	NM_001040715	NP_001035805	Q68EN5	K895L_HUMAN	Homo sapiens KIAA0895-like (KIAA0895L), mRNA.	176								p.V176L(2)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						TTTTCCAGCACAGCCGTGGGC	0.582000													36	88					0	0	1	0	0
SPATS2	65244	broad.mit.edu	37	12	49890689	49890689	+	Silent	SNP	A	A	G			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr12:49890689A>G	uc001rud.2	+	7	1589	c.600A>G	c.(598-600)caA>caG	p.Q200Q	SPATS2_uc001rue.2_Non-coding_Transcript|SPATS2_uc009zli.1_Silent_p.Q200Q|SPATS2_uc001ruf.2_Silent_p.Q200Q	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2 (SPATS2), mRNA.	200						cytoplasm		p.Q200*(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						ACAATTCTCAACAACCCAGGA	0.438000													69	94					0	0	1	0	0
PTGES	9536	broad.mit.edu	37	9	132511009	132511009	+	Missense_Mutation	SNP	G	G	A			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr9:132511009G>A	uc004byi.3	-	1	187	c.134C>T	c.(133-135)gCc>gTc	p.A45V	PTGES_uc010myy.3_Non-coding_Transcript	NM_004878	NP_004869	O14684	PTGES_HUMAN	Homo sapiens prostaglandin E synthase (PTGES), mRNA.	45					prostaglandin biosynthetic process|signal transduction	integral to membrane|membrane fraction	glutathione binding|prostaglandin-E synthase activity			lung(1)|skin(1)	2		Ovarian(14;0.00556)				CTCGGGGTTGGCAAAGGCCTG	0.592000													3	51					0	0	1	0	0
COL3A1	1281	broad.mit.edu	37	2	189853339	189853339	+	Silent	SNP	C	C	A			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr2:189853339C>A	uc002uqj.1	+	6	723	c.606C>A	c.(604-606)ccC>ccA	p.P202P		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	202	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ACCAAGGACCCCCTGGTGAAC	0.328000													3	84					0	0	1	0	0
ATP2A2	488	broad.mit.edu	37	12	110771021	110771021	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr12:110771021A>G	uc001tqk.4	+	9	1783	c.1220A>G	c.(1219-1221)tAt>tGt	p.Y407C	ATP2A2_uc001tql.4_Missense_Mutation_p.Y407C|ATP2A2_uc021rdt.1_Missense_Mutation_p.Y255C	NM_170665	NP_733765	P16615	AT2A2_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 (ATP2A2), transcript variant b, mRNA.	407					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|S100 alpha binding|calcium-transporting ATPase activity|protein C-terminus binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TGTCACCAGTATGATGGTCTG	0.423000													81	126					0	0	1	0	0
ABCB7	22	broad.mit.edu	37	X	74332769	74332769	+	Silent	SNP	A	A	G			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chrX:74332769A>G	uc004ebz.3	-	2	313	c.288T>C	c.(286-288)tgT>tgC	p.C96C	ABCB7_uc010nlt.3_Silent_p.C95C|ABCB7_uc004eca.3_Silent_p.C95C|ABCB7_uc011mqn.2_Silent_p.C69C|ABCB7_uc010nls.3_Silent_p.C96C	NM_004299	NP_004290	O75027	ABCB7_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.	95					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GACCATGCCAACATGTCCTCT	0.438000													9	244					0	0	1	0	0
GPT	2875	broad.mit.edu	37	8	145731945	145731945	+	Missense_Mutation	SNP	A	A	G			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr8:145731945A>G	uc003zdh.4	+	8	1416	c.1193A>G	c.(1192-1194)aAt>aGt	p.N398S	MFSD3_uc003zdi.1_5'Flank	NM_005309	NP_005300	P24298	ALAT1_HUMAN	Homo sapiens glutamic-pyruvate transaminase (alanine aminotransferase) (GPT), mRNA.	398					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	CAGGTCTTCAATGAGGCTCCT	0.692000													5	9					0	0	1	0	0
MEN1	4221	broad.mit.edu	37	11	64575515	64575515	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BJ-A0ZE-01A-11D-A10S-08	TCGA-BJ-A0ZE-10A-01D-A10S-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	351bea69-3247-4c7f-914f-72722a03545b	a9dbff9f-6e45-4f3f-939d-34c7a4a29b3f	g.chr11:64575515delG	uc001obj.3	-	2	590	c.517delC	c.(517-519)ctgfs	p.L173fs	MEN1_uc001obk.3_Frame_Shift_Del_p.L173fs|MEN1_uc001obl.3_Frame_Shift_Del_p.L168fs|MEN1_uc001obm.3_Frame_Shift_Del_p.L168fs|MEN1_uc001obn.3_Frame_Shift_Del_p.L173fs|MEN1_uc001obo.3_Frame_Shift_Del_p.L173fs|MEN1_uc001obq.3_Frame_Shift_Del_p.L173fs|MEN1_uc001obr.3_Frame_Shift_Del_p.L173fs	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	173			L -> P (in MEN1).|Missing (in MEN1).		DNA repair|MAPKKK cascade|histone lysine methylation|negative regulation of JNK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to UV|response to gamma radiation|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	R-SMAD binding|Y-form DNA binding|double-stranded DNA binding|four-way junction DNA binding|protein N-terminus binding|protein binding, bridging|transcription regulatory region DNA binding	p.D172V(1)|p.A167fs*10(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CGGAGACCCAGGGCCTGGCAG	0.602			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				21	41	---	---	---	---