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
HMCN1	83872	broad.mit.edu	37	1	185815175	185815175	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr1:185815175A>T	uc001grq.1	+	1	515	c.286A>T	c.(286-288)Att>Ttt	p.I96F		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	96	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCAGTGACAATTACCACAGA	0.358												
OR5D13	390142	broad.mit.edu	37	11	55541191	55541191	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr11:55541191C>A	uc010ril.2	+	0	278	c.278C>A	c.(277-279)aCc>aAc	p.T93N		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GAATACAGAACCATCTCTTTC	0.398												
ABCC9	10060	broad.mit.edu	37	12	22069980	22069980	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr12:22069980T>C	uc001rfh.3	-	3	484	c.464A>G	c.(463-465)tAc>tGc	p.Y155C	ABCC9_uc001rfi.1_Missense_Mutation_p.Y155C	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	155					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGACTGACAGTACTTAACCAA	0.388												
PKP2	5318	broad.mit.edu	37	12	33030958	33030958	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr12:33030958A>C	uc001rlj.4	-	2	971	c.856T>G	c.(856-858)Tcc>Gcc	p.S286A	PKP2_uc001rlk.4_Missense_Mutation_p.S286A|PKP2_uc010skj.2_Missense_Mutation_p.S286A	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	286					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GAGGACCTGGAAGCCCTGTTC	0.652												
MFSD5	84975	broad.mit.edu	37	12	53647741	53647741	+	Silent	SNP	G	G	A			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr12:53647741G>A	uc001sch.2	+	1	1590	c.1443G>A	c.(1441-1443)caG>caA	p.Q481Q	MFSD5_uc001sci.2_Silent_p.Q374Q|MFSD5_uc021qye.1_Silent_p.Q374Q	NM_001170790	NP_116278	Q6N075	MFSD5_HUMAN	Homo sapiens major facilitator superfamily domain containing 5 (MFSD5), transcript variant 1, mRNA.	374					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						AGACAGAGCAGGCTGGTGTAC	0.502												
GLT1D1	144423	broad.mit.edu	37	12	129360490	129360490	+	Missense_Mutation	SNP	G	G	A	rs146263464	byFrequency	TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr12:129360490G>A	uc010tbh.1	+	1	76	c.67G>A	c.(67-69)Gtt>Att	p.V23I	GLT1D1_uc001uhx.1_Missense_Mutation_p.V34I|GLT1D1_uc001uhy.1_Non-coding_Transcript	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.	34					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GCACGTGTGCGTTTTGAAGGA	0.473												
VRTN	55237	broad.mit.edu	37	14	74824348	74824348	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr14:74824348C>T	uc021rwl.1	+	0	862	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C	VRTN_uc001xpw.4_Missense_Mutation_p.R288C	NM_018228	NP_060698	Q9H8Y1	VRTN_HUMAN	Homo sapiens vertebrae development homolog (pig) (VRTN), mRNA.	288					transposition, DNA-mediated		DNA binding|transposase activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CCTCTGTGAGCGCTACAGCGT	0.647												
PLA2G4E	123745	broad.mit.edu	37	15	42298316	42298316	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr15:42298316C>T	uc021sjp.1	-	3	397	c.397G>A	c.(397-399)Gtg>Atg	p.V133M		NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	115	C2.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AACTCTAGCACGTTCTAGGGG	0.507												
DET1	55070	broad.mit.edu	37	15	89070986	89070986	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr15:89070986G>A	uc002bmq.2	-	3	1337	c.1148C>T	c.(1147-1149)aCg>aTg	p.T383M	DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Missense_Mutation_p.T372M|DET1_uc010bnk.2_Intron	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.	372						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CACCTCTGTCGTCACCATATT	0.433												
CACNA1H	8912	broad.mit.edu	37	16	1257299	1257299	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr16:1257299G>A	uc002cks.3	+	13	3180	c.2932G>A	c.(2932-2934)Gtg>Atg	p.V978M	CACNA1H_uc002ckt.3_Missense_Mutation_p.V978M|CACNA1H_uc002cku.3_5'Flank|CACNA1H_uc010brj.3_5'Flank|CACNA1H_uc002ckv.3_5'Flank	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	978					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GGACTGGAACGTGGTCCTGTA	0.632												
ALG1	56052	broad.mit.edu	37	16	5129756	5129756	+	Silent	SNP	A	A	G			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr16:5129756A>G	uc002cym.3	+	8	950	c.909A>G	c.(907-909)gaA>gaG	p.E303E	ALG1_uc002cyj.3_Silent_p.E192E|ALG1_uc010bue.3_Silent_p.E192E	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	Homo sapiens asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae) (ALG1), mRNA.	303					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity	p.E303E(6)		breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				CAGAGTTTGAACAACTGACTC	0.443												
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr17:7578406C>T	uc002gim.2	-	4	718	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)		
KRTAP4-7	100132476	broad.mit.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs139671425	by1000genomes	TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr17:39240627T>C	uc010wfn.2	+	0	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.									p.S57P(6)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667												
ATP6V0A1	535	broad.mit.edu	37	17	40646356	40646356	+	Silent	SNP	G	G	A	rs142629560		TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr17:40646356G>A	uc002hzs.3	+	11	1367	c.1200G>A	c.(1198-1200)ccG>ccA	p.P400P	ATP6V0A1_uc002hzr.3_Silent_p.P393P|ATP6V0A1_uc002hzq.3_Silent_p.P393P|ATP6V0A1_uc010wgj.2_Silent_p.P350P|ATP6V0A1_uc010wgk.2_Silent_p.P350P|ATP6V0A1_uc010cyg.3_Silent_p.P39P|ATP6V0A1_uc010wgl.2_Silent_p.P252P	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	393					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TCATAGCTCCGTATACTATTA	0.368												
SRSF2	6427	broad.mit.edu	37	17	74732284	74732284	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr17:74732284G>T	uc002jsy.4	-	1	876	c.625C>A	c.(625-627)Ccc>Acc	p.P209T	SRSF2_uc010wtg.2_Missense_Mutation_p.P197T|SRSF2_uc002jsv.3_Missense_Mutation_p.P209T|SRSF2_uc002jsw.2_Non-coding_Transcript|MFSD11_uc002jsz.1_Non-coding_Transcript|MFSD11_uc002jta.2_5'UTR|MFSD11_uc002jtd.4_5'Flank|MFSD11_uc002jtb.3_5'Flank|MFSD11_uc002jtc.3_5'Flank|MFSD11_uc002jte.3_5'Flank|MFSD11_uc010dhb.3_5'Flank|MFSD11_uc010dha.3_5'Flank	NM_001195427	NP_001182356	Q01130	SRSF2_HUMAN	Homo sapiens serine/arginine-rich splicing factor 2 (SRSF2), transcript variant 2, mRNA.	209	Arg/Ser-rich (RS domain).				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nuclear speck	nucleotide binding|protein binding|RNA binding|transcription corepressor activity			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						GACTTGGGGGGACTCTTCGAT	0.537			Mis		"""MDS, CLL"""							
STXBP2	6813	broad.mit.edu	37	19	7711219	7711219	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr19:7711219G>C	uc010xjr.2	+	15	1519	c.1474G>C	c.(1474-1476)Gat>Cat	p.D492H	STXBP2_uc002mha.4_Missense_Mutation_p.D481H|STXBP2_uc002mhb.4_Missense_Mutation_p.D478H|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_Missense_Mutation_p.D109H	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	481					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGTCATCAAGGATGTAATGGA	0.677												
MUC16	94025	broad.mit.edu	37	19	9045842	9045842	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr19:9045842C>G	uc002mkp.3	-	4	35993	c.35789G>C	c.(35788-35790)gGa>gCa	p.G11930A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11932	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTCTGGGGGTCCAACTGAAGT	0.493												
UXS1	80146	broad.mit.edu	37	2	106761696	106761696	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr2:106761696T>C	uc002tdm.3	-	5	505	c.407A>G	c.(406-408)gAg>gGg	p.E136G	UXS1_uc002tdn.3_Missense_Mutation_p.E141G|UXS1_uc002tdo.3_Missense_Mutation_p.E79G|UXS1_uc010ywh.2_Intron	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	Homo sapiens UDP-glucuronate decarboxylase 1 (UXS1), transcript variant 2, mRNA.	136					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	p.E135Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CTCGAAGTTCTCATGTCCGAT	0.512												
NCKAP5	344148	broad.mit.edu	37	2	133541813	133541813	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr2:133541813A>C	uc002ttp.3	-	13	2945	c.2571T>G	c.(2569-2571)ttT>ttG	p.F857L	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	857							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATCGTAATTCAAAGAGGGGCC	0.532												
CST9	128822	broad.mit.edu	37	20	23586397	23586397	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr20:23586397C>T	uc002wtl.3	-	0	214	c.105G>A	c.(103-105)atG>atA	p.M35I		NM_001008693	NP_001008693	Q5W186	CST9_HUMAN	Homo sapiens cystatin 9 (testatin) (CST9), mRNA.	35						extracellular region	cysteine-type endopeptidase inhibitor activity			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					TATTACCACCCATTTCCTCTT	0.517												
NPBWR2	2832	broad.mit.edu	37	20	62738130	62738130	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr20:62738130G>A	uc011abt.2	-	0	55	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	19						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CCCATCGTGGGGAGGGAGAAG	0.637												
TM4SF19	116211	broad.mit.edu	37	3	196051173	196051173	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr3:196051173A>G	uc010iad.2	-	3	576	c.418T>C	c.(418-420)Tat>Cat	p.Y140H	TM4SF19_uc003fwj.3_Non-coding_Transcript|AK124973_uc003fwk.1_3'UTR|TM4SF19_uc003fwl.2_Missense_Mutation_p.Y140H|TM4SF19_uc021xjs.1_Missense_Mutation_p.Y140H|TM4SF19_uc011btv.2_Missense_Mutation_p.Y114H	NM_001204897	NP_001191826	Q96DZ7	T4S19_HUMAN	Homo sapiens transmembrane 4 L six family member 19 (TM4SF19), transcript variant 2, mRNA.	140						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GGGTAACCATATTTCCAAGCT	0.438												
UGT2B4	7363	broad.mit.edu	37	4	70359506	70359506	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr4:70359506G>A	uc003hek.4	-	1	822	c.775C>T	c.(775-777)Cga>Tga	p.R259*	UGT2B4_uc011cap.2_Nonsense_Mutation_p.R123*|UGT2B4_uc003hel.4_Nonsense_Mutation_p.R259*	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	259					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAGTAGTTTCGAATAAGCCAT	0.413												
STK10	6793	broad.mit.edu	37	5	171520876	171520876	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr5:171520876G>A	uc003mbo.1	-	8	1394	c.1094C>T	c.(1093-1095)cCg>cTg	p.P365L		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	365							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGGTGCCAGCGGGGTGGAAGG	0.587												
RUNX2	860	broad.mit.edu	37	6	45514682	45514682	+	Silent	SNP	G	G	A			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr6:45514682G>A	uc011dvx.2	+	8	1416	c.1206G>A	c.(1204-1206)ccG>ccA	p.P402P	RUNX2_uc011dvy.2_Silent_p.P380P|RUNX2_uc003oxt.3_Silent_p.P388P	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	402	Interaction with MYST3 (By similarity).|Interaction with MYST4.|Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTTACACCCCGCCAGTCACCT	0.577												
WBSCR27	155368	broad.mit.edu	37	7	73249094	73249094	+	Silent	SNP	C	C	T			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr7:73249094C>T	uc003tzj.2	-	5	757	c.717G>A	c.(715-717)agG>agA	p.R239R		NM_152559	NP_689772	Q8N6F8	WBS27_HUMAN	Homo sapiens Williams Beuren syndrome chromosome region 27 (WBSCR27), mRNA.	239										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				ACCTGGGTCGCCTTCCACTTT	0.632												
CUX1	1523	broad.mit.edu	37	7	101847816	101847816	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr7:101847816A>G	uc003uys.4	+	18	3213	c.3086A>G	c.(3085-3087)cAg>cGg	p.Q1029R	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.Q1018R	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1018					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CTACCCGTCCAGGGCCAGCAG	0.647												
AASS	10157	broad.mit.edu	37	7	121756793	121756793	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr7:121756793G>A	uc003vka.3	-	6	884	c.788C>T	c.(787-789)aCg>aTg	p.T263M	AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Missense_Mutation_p.T263M|AASS_uc011knw.2_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	263	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	p.T263T(2)|p.T263M(2)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	ACTTAACACCGTCCCATACAC	0.353												
GRM8	2918	broad.mit.edu	37	7	126882805	126882805	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr7:126882805C>G	uc003vlr.2	-	0	765	c.454G>C	c.(454-456)Ggt>Cgt	p.G152R	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.G152R|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	152					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCTGCAGCACCTATGACGCCA	0.433										HNSCC(24;0.065)		
PHF20L1	51105	broad.mit.edu	37	8	133829196	133829196	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr8:133829196A>C	uc003ytt.3	+	10	1572	c.1247A>C	c.(1246-1248)cAg>cCg	p.Q416P	PHF20L1_uc003yts.3_Missense_Mutation_p.Q416P|PHF20L1_uc011lja.2_Missense_Mutation_p.Q390P|PHF20L1_uc003ytu.1_Intron	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	416							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AGAAGATCTCAGCGTTTAGCC	0.453												
CXorf23	256643	broad.mit.edu	37	X	19968977	19968977	+	Missense_Mutation	SNP	T	T	G			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chrX:19968977T>G	uc004czp.3	-	6	1639	c.1639A>C	c.(1639-1641)Aaa>Caa	p.K547Q	CXorf23_uc011mjg.2_Missense_Mutation_p.K112Q|CXorf23_uc004czo.3_Missense_Mutation_p.K497Q	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA.	547						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TCTATTATTTTGATCAGAGTC	0.363												
