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
ODZ1	10178	broad.mit.edu	37	X	123637463	123637463	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chrX:123637463G>A	uc010nqy.3	-	18	3456	c.3392C>T	c.(3391-3393)tCt>tTt	p.S1131F	ODZ1_uc011muj.2_Missense_Mutation_p.S1130F|ODZ1_uc004euj.3_Missense_Mutation_p.S1131F	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1131					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.D1131H(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TCCTAGGTTAGAAGCATCCAT	0.378000													14	250					0	0	1	0	0
KRTAP10-11	386678	broad.mit.edu	37	21	46067139	46067139	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr21:46067139C>T	uc002zfr.4	+	0	809	c.764C>T	c.(763-765)tCc>tTc	p.S255F	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198692	NP_941965	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.	249						keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CCCGTCTCCTCCTGCTGTGCC	0.701000													8	78					0	0	1	0	0
TAS1R3	83756	broad.mit.edu	37	1	1269087	1269087	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr1:1269087C>T	uc010nyk.2	+	5	1802	c.1802C>T	c.(1801-1803)gCc>gTc	p.A601V		NM_152228	NP_689414	Q7RTX0	TS1R3_HUMAN	Homo sapiens taste receptor, type 1, member 3 (TAS1R3), mRNA.	601					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	CTGGTTCAGGCCTCGGGGGGG	0.692000													3	13					0	0	1	0	0
NFIA	4774	broad.mit.edu	37	1	61743213	61743213	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr1:61743213C>G	uc010oos.2	+	3	798	c.716C>G	c.(715-717)cCc>cGc	p.P239R	NFIA_uc001czy.3_Missense_Mutation_p.P186R|NFIA_uc001czw.3_Missense_Mutation_p.P194R|NFIA_uc001czv.3_Missense_Mutation_p.P194R	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	194					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						TCTGAAAGTCCCAGCCAGCCA	0.458000													22	46					0	0	1	0	0
C1orf213	148898	broad.mit.edu	37	1	23696056	23696056	+	Missense_Mutation	SNP	T	T	A			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr1:23696056T>A	uc001bgw.3	+	0	593	c.266T>A	c.(265-267)cTg>cAg	p.L89Q	ZNF436_uc001bgt.3_5'Flank|ZNF436_uc001bgu.3_5'UTR|C1orf213_uc021oif.1_Intron					Homo sapiens chromosome 1 open reading frame 213 (C1orf213), transcript variant 1, non-coding RNA.											kidney(1)	1		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.97e-26)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;5.23e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		TATCGTAGGCTGATCCTAAAG	0.567000													13	35					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				16	45					0	0	1	0	0
SLFNL1	200172	broad.mit.edu	37	1	41486324	41486324	+	Silent	SNP	G	G	C			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr1:41486324G>C	uc009vwg.1	-	2	393	c.9C>G	c.(7-9)ccC>ccG	p.P3P	LOC100507178_uc021omd.1_Intron|SLFNL1_uc009vwf.1_Silent_p.P3P|SLFNL1_uc001cgn.2_Silent_p.P3P|SLFNL1_uc001cgm.2_Silent_p.P3P	NM_001168247	NP_659427	Q499Z3	SLNL1_HUMAN	Homo sapiens schlafen-like 1 (SLFNL1), transcript variant 2, mRNA.	3							ATP binding			endometrium(3)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Breast(333;0.1)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0393)				ATCTCTTCATGGGGGTCATGG	0.602000													4	30					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90074772	90074772	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr5:90074772G>A	uc003kju.3	+	63	13036	c.12940G>A	c.(12940-12942)Gat>Aat	p.D4314N	GPR98_uc003kjt.3_Missense_Mutation_p.D2020N|GPR98_uc003kjw.3_5'Flank	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4314	Calx-beta 29.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	G-protein coupled receptor activity|calcium ion binding			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGCAGGCTTGGATTTTGTTCC	0.493000													8	114					0	0	1	0	0
MAGEA1	4100	broad.mit.edu	37	X	152482113	152482113	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chrX:152482113C>T	uc004fhf.2	-	2	1118	c.898G>A	c.(898-900)Gca>Aca	p.A300T	MAGEA1_uc022chs.1_Missense_Mutation_p.A300T	NM_004988	NP_004979	P43355	MAGA1_HUMAN	Homo sapiens melanoma antigen family A, 1 (directs expression of antigen MZ2-E) (MAGEA1), mRNA.	300	MAGE.					cytoplasm|plasma membrane				breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCAAAGCTGCTTCACGCAGG	0.577000													47	99					0	0	1	0	0
DCX	1641	broad.mit.edu	37	X	110653418	110653418	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chrX:110653418T>C	uc011msv.2	-	1	624	c.452A>G	c.(451-453)tAc>tGc	p.Y151C	DCX_uc004epd.3_Missense_Mutation_p.Y151C|DCX_uc004epe.3_Missense_Mutation_p.Y70C|DCX_uc004epf.3_Missense_Mutation_p.Y70C|DCX_uc004epg.3_Missense_Mutation_p.Y70C	NM_178152	NP_835365	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 2, mRNA.	151	Doublecortin 1.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	p.V150M(1)|p.Y151Y(1)|p.Y151*(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GGACACAGCGTACACAATCCC	0.527000													6	108					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145009393	145009393	+	Nonsense_Mutation	SNP	C	C	A			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr8:145009393C>A	uc003zaf.1	-	6	1272	c.1102G>T	c.(1102-1104)Gga>Tga	p.G368*	PLEC_uc003zab.1_Nonsense_Mutation_p.G231*|PLEC_uc003zac.1_Nonsense_Mutation_p.G235*|PLEC_uc003zad.2_Nonsense_Mutation_p.G231*|PLEC_uc003zae.1_Nonsense_Mutation_p.G199*|PLEC_uc003zag.1_Nonsense_Mutation_p.G209*|PLEC_uc003zah.2_Nonsense_Mutation_p.G217*|PLEC_uc003zaj.2_Nonsense_Mutation_p.G258*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	368	Actin-binding.|CH 2.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCGTCACTCCCAGGTCCCGC	0.657000													4	24					0	0	1	0	0
SLC25A43	203427	broad.mit.edu	37	X	118585975	118585975	+	Nonsense_Mutation	SNP	C	C	T			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chrX:118585975C>T	uc004erd.3	+	3	803	c.694C>T	c.(694-696)Cag>Tag	p.Q232*	SLC25A43_uc004erc.2_Non-coding_Transcript|SLC25A43_uc011mtt.2_Missense_Mutation_p.S174L	NM_145305	NP_660348	Q8WUT9	S2543_HUMAN	Homo sapiens solute carrier family 25, member 43 (SLC25A43), nuclear gene encoding mitochondrial protein, mRNA.	232					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						CTGTCAGGCTCAGAGCCCCTA	0.532000													8	69					0	0	1	0	0
TMEM204	79652	broad.mit.edu	37	16	1591953	1591953	+	Silent	SNP	G	G	A			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr16:1591953G>A	uc002cmc.2	+	2	710	c.312G>A	c.(310-312)ctG>ctA	p.L104L	IFT140_uc002clz.3_Intron|IFT140_uc002cmb.3_Intron|TMEM204_uc002cmd.2_Silent_p.L104L|TMEM204_uc010brr.1_Silent_p.L104L	NM_024600	NP_078876	Q9BSN7	TM204_HUMAN	Homo sapiens transmembrane protein 204 (TMEM204), mRNA.	104					response to stress	adherens junction|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				CCTGCAACCTGGTGGCCACGG	0.701000													3	35					0	0	1	0	0
CGNL1	84952	broad.mit.edu	37	15	57730273	57730273	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr15:57730273A>G	uc010bfw.3	+	2	269	c.76A>G	c.(76-78)Acc>Gcc	p.T26A	CGNL1_uc002aeg.3_Missense_Mutation_p.T26A	NM_001252335	NP_001239264	Q0VF96	CGNL1_HUMAN	Homo sapiens cingulin-like 1 (CGNL1), transcript variant 1, mRNA.	26	Head.					myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		AAGTGATGATACCCAAAAATC	0.483000													12	169					0	0	1	0	0
NLRP4	147945	broad.mit.edu	37	19	56363698	56363698	+	Silent	SNP	C	C	T			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr19:56363698C>T	uc002qmd.4	+	1	674	c.252C>T	c.(250-252)ctC>ctT	p.L84L		NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	84	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAAAGGATCTCTGCATGAAGG	0.443000													4	60					0	0	1	0	0
GALT	2592	broad.mit.edu	37	9	34649475	34649475	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr9:34649475C>T	uc003zve.3	+	9	1040	c.973C>T	c.(973-975)Ccg>Tcg	p.P325S	GALT_uc003zvf.3_Missense_Mutation_p.P216S|IL11RA_uc003zvi.3_5'Flank|IL11RA_uc011loq.2_5'Flank	NM_000155	NP_000146	P07902	GALT_HUMAN	Homo sapiens galactose-1-phosphate uridylyltransferase (GALT), mRNA.	325			P -> L (in GALCT).		galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		TTACTACCCTCCGCTCCTGCG	0.577000									Galactosemia				5	108					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179474597	179474597	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr2:179474597C>G	uc021vsy.1	-	220	44074	c.43849G>C	c.(43849-43851)Gag>Cag	p.E14617Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E8312Q|TTN_uc021vta.1_Missense_Mutation_p.E8245Q|TTN_uc021vtb.1_Missense_Mutation_p.E8120Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15544	Ig-like 96.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAATCTTCTCTATGATGTAG	0.438000													9	296					0	0	1	0	0
LIG4	3981	broad.mit.edu	37	13	108861705	108861705	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr13:108861705T>C	uc001vqn.3	-	1	2185	c.1912A>G	c.(1912-1914)Att>Gtt	p.I638V	LIG4_uc001vqo.3_Missense_Mutation_p.I638V|LIG4_uc010agf.3_Missense_Mutation_p.I638V|LIG4_uc001vqp.3_Missense_Mutation_p.I638V|LIG4_uc010agg.1_Missense_Mutation_p.I571V|LIG4_uc021rmk.1_Missense_Mutation_p.I638V	NM_002312	NP_996820	P49917	DNLI4_HUMAN	Homo sapiens ligase IV, DNA, ATP-dependent (LIG4), transcript variant 1, mRNA.	638					DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|T cell differentiation in thymus|T cell receptor V(D)J recombination|cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to X-ray|response to gamma radiation|single strand break repair|somatic stem cell maintenance	DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|condensed chromosome|cytoplasm|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATAATTCCAATAACTTTCTTC	0.358000								Non-homologous end-joining					26	51					0	0	1	0	0
GPR179	440435	broad.mit.edu	37	17	36487270	36487270	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr17:36487270C>T	uc002hpz.3	-	10	2203	c.2182G>A	c.(2182-2184)Gag>Aag	p.E728K		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	728						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GCCAGGGCCTCGGGGAATTCC	0.687000													3	25					0	0	1	0	0
HTRA4	203100	broad.mit.edu	37	8	38831929	38831929	+	Frame_Shift_Del	DEL	C	C	-			TCGA-ET-A3DO-01A-11D-A19J-08	TCGA-ET-A3DO-10A-01D-A19M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a073cf43-6d9e-47a0-b693-fa8263f43bd5	5b56007f-b1e0-4c6b-bd80-d3a292bbfcbc	g.chr8:38831929delC	uc003xmj.3	+	0	262	c.147delC	c.(145-147)tgcfs	p.C49fs		NM_153692	NP_710159	P83105	HTRA4_HUMAN	Homo sapiens HtrA serine peptidase 4 (HTRA4), mRNA.	49	IGFBP N-terminal.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CCACGCGCTGCCCCGCGCTGC	0.746													2	4	---	---	---	---