#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
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	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
UBR4	23352	broad.mit.edu	37	1	19442130	19442130	+	Splice_Site	SNP	G	G	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr1:19442130G>T	ENST00000375254.3	-	74	10852	c.10825C>A	c.(10825-10827)Cca>Aca	p.P3609T	UBR4_ENST00000375267.2_Splice_Site_p.P3609T|UBR4_ENST00000375218.3_Splice_Site_p.P24T|UBR4_ENST00000375226.2_Splice_Site_p.P3585T|UBR4_ENST00000375217.2_Splice_Site_p.P3602T	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3609					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P3609T(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCGAGCTGGCCTAGGAAAG	0.488																																																1	Substitution - Missense(1)	ovary(1)	1											104.0	105.0	105.0					1																	19442130		2203	4300	6503	19314717	SO:0001630	splice_region_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.10824-1C>A	1.37:g.19442130G>T			19314717	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	CCDS189.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.664860	0.67700	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000375218	T;T;T;T	0.26518	1.73;1.73;1.75;1.75	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.54581	0.1867	M	0.79475	2.455	0.80722	D	1	P;D	0.71674	0.893;0.998	P;D	0.73708	0.624;0.981	T	0.55256	-0.8169	10	0.66056	D	0.02	.	18.7215	0.91697	0.0:0.0:1.0:0.0	.	24;3609	Q5T4S7-6;Q5T4S7	.;UBR4_HUMAN	T	3609;3609;3602;3585;24	ENSP00000364403:P3609T;ENSP00000364416:P3609T;ENSP00000364365:P3602T;ENSP00000364374:P3585T	ENSP00000364365:P3602T	P	-	1	0	UBR4	19314717	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.447000	0.97595	2.767000	0.95098	0.655000	0.94253	CCA		0.488	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765	Missense_Mutation
CLSPN	63967	broad.mit.edu	37	1	36202125	36202125	+	Missense_Mutation	SNP	C	C	T	rs115320551		TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr1:36202125C>T	ENST00000318121.3	-	25	4049	c.3992G>A	c.(3991-3993)cGa>cAa	p.R1331Q	CLSPN_ENST00000251195.5_Intron|CLSPN_ENST00000466308.1_5'UTR|CLSPN_ENST00000520551.1_Missense_Mutation_p.R1278Q|CLSPN_ENST00000373220.3_Missense_Mutation_p.R1267Q|RP11-435D7.3_ENST00000373226.2_RNA	NM_022111.3	NP_071394.2	Q9HAW4	CLSPN_HUMAN	claspin	1331					activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|G2 DNA damage checkpoint (GO:0031572)|mitotic DNA replication checkpoint (GO:0033314)|peptidyl-serine phosphorylation (GO:0018105)	nucleoplasm (GO:0005654)	anaphase-promoting complex binding (GO:0010997)|DNA binding (GO:0003677)	p.R1331Q(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAGATGCTTCGCGTCAATCC	0.423													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18800	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	1											150.0	141.0	144.0					1																	36202125		2203	4300	6503	35974712	SO:0001583	missense	63967			AF297866	CCDS396.1, CCDS53297.1	1p34.3	2010-06-24	2010-06-24		ENSG00000092853	ENSG00000092853			19715	protein-coding gene	gene with protein product		605434	"""claspin homolog (Xenopus laevis)"""			11090622, 12766152	Standard	NM_022111		Approved		uc001bzi.3	Q9HAW4	OTTHUMG00000004168	ENST00000318121.3:c.3992G>A	1.37:g.36202125C>T	ENSP00000312995:p.Arg1331Gln		35974712	A6NFL4|Q1RMC6|Q2KHM3|Q5VYG0|Q6P6H5|Q8IWI1	Missense_Mutation	SNP	ENST00000318121.3	37	CCDS396.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	13.64	2.298942	0.40694	.	.	ENSG00000092853	ENST00000318121;ENST00000373220;ENST00000520551	T;T;T	0.27557	1.66;1.71;1.72	5.29	-1.26	0.09376	.	0.312008	0.29046	N	0.013319	T	0.14960	0.0361	N	0.12746	0.255	0.24776	N	0.992842	B;B	0.25007	0.116;0.068	B;B	0.15052	0.012;0.012	T	0.13176	-1.0519	10	0.32370	T	0.25	0.0185	13.1085	0.59261	0.0:0.8736:0.0:0.1264	.	1267;1331	Q9HAW4-2;Q9HAW4	.;CLSPN_HUMAN	Q	1331;1267;1278	ENSP00000312995:R1331Q;ENSP00000362317:R1267Q;ENSP00000428848:R1278Q	ENSP00000312995:R1331Q	R	-	2	0	CLSPN	35974712	0.998000	0.40836	0.974000	0.42286	0.967000	0.64934	0.428000	0.21395	-0.357000	0.08175	-0.290000	0.09829	CGA		0.423	CLSPN-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377857.1	NM_022111	
DPH2	1802	broad.mit.edu	37	1	44437736	44437736	+	Silent	SNP	T	T	C	rs151240561	byFrequency	TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr1:44437736T>C	ENST00000255108.3	+	4	1334	c.1162T>C	c.(1162-1164)Ttg>Ctg	p.L388L	ATP6V0B_ENST00000471859.2_5'Flank|ATP6V0B_ENST00000236067.4_5'Flank|ATP6V0B_ENST00000472174.2_5'Flank|DPH2_ENST00000412950.2_Silent_p.L253L|ATP6V0B_ENST00000532642.1_5'Flank|DPH2_ENST00000396758.2_Intron	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	388					peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)	cytoplasm (GO:0005737)		p.L388L(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				TGCGGACTTATTGCCTGGTGA	0.582																																																1	Substitution - coding silent(1)	ovary(1)	1							,	5,4401	9.9+/-24.2	0,5,2198	59.0	56.0	57.0		,1162	-3.3	0.0	1	dbSNP_134	57	0,8600		0,0,4300	no	intron,coding-synonymous	DPH2	NM_001039589.1,NM_001384.4	,	0,5,6498	CC,CT,TT		0.0,0.1135,0.0384	,	,388/490	44437736	5,13001	2203	4300	6503	44210323	SO:0001819	synonymous_variant	1802			AF053003	CCDS504.1, CCDS41314.1	1p34	2008-02-05	2005-06-03	2005-06-03	ENSG00000132768	ENSG00000132768			3004	protein-coding gene	gene with protein product		603456	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 2 (S. cerevisiae)"", ""DPH2-like 2 (S. cerevisiae)"""	DPH2L2		9782084, 15485916	Standard	XM_005270559		Approved		uc001ckz.3	Q9BQC3	OTTHUMG00000008295	ENST00000255108.3:c.1162T>C	1.37:g.44437736T>C			44210323	A8MVC9|B2RDE3|B4DNI8|O60623	Silent	SNP	ENST00000255108.3	37	CCDS504.1																																																																																				0.582	DPH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022832.1	NM_001384	
ZRANB2	9406	broad.mit.edu	37	1	71544345	71544345	+	Missense_Mutation	SNP	C	C	A			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr1:71544345C>A	ENST00000370920.3	-	2	404	c.103G>T	c.(103-105)Ggt>Tgt	p.G35C	ZRANB2-AS2_ENST00000596952.1_RNA|ZRANB2_ENST00000254821.6_Missense_Mutation_p.G35C|ZRANB2-AS2_ENST00000455406.1_RNA	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	35					mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.G35C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						TTACCCCGACCACATCGATTA	0.264																																																1	Substitution - Missense(1)	ovary(1)	1											60.0	64.0	62.0					1																	71544345		2196	4297	6493	71316933	SO:0001583	missense	9406			AF065391	CCDS659.1, CCDS660.1	1p31	2008-02-05	2006-06-28	2006-06-28	ENSG00000132485	ENSG00000132485		"""Zinc fingers, RAN-binding domain containing"""	13058	protein-coding gene	gene with protein product		604347	"""zinc finger protein 265"""	ZNF265		9931435	Standard	NM_005455		Approved	ZIS, ZIS1, ZIS2	uc001dft.3	O95218	OTTHUMG00000009660	ENST00000370920.3:c.103G>T	1.37:g.71544345C>A	ENSP00000359958:p.Gly35Cys		71316933	D3DQ75|Q53GS3|Q59F92|Q5VV33|Q5VV34|Q8IXN6|Q9UP63	Missense_Mutation	SNP	ENST00000370920.3	37	CCDS659.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.763298	0.89932	.	.	ENSG00000132485	ENST00000370920;ENST00000254821	T;T	0.57907	0.37;0.37	5.74	5.74	0.90152	Zinc finger, RanBP2-type (3);	0.000000	0.85682	D	0.000000	T	0.75324	0.3834	M	0.88241	2.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.993	T	0.79127	-0.1931	10	0.72032	D	0.01	.	19.5216	0.95187	0.0:1.0:0.0:0.0	.	35;35	O95218;O95218-2	ZRAB2_HUMAN;.	C	35	ENSP00000359958:G35C;ENSP00000254821:G35C	ENSP00000254821:G35C	G	-	1	0	ZRANB2	71316933	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.616000	0.67709	2.723000	0.93209	0.591000	0.81541	GGT		0.264	ZRANB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026636.1	NM_203350	
CAMSAP2	23271	broad.mit.edu	37	1	200730072	200730072	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr1:200730072G>T	ENST00000236925.4	+	2	294	c.245G>T	c.(244-246)tGt>tTt	p.C82F	CAMSAP2_ENST00000413307.2_Missense_Mutation_p.C82F|CAMSAP2_ENST00000358823.2_Missense_Mutation_p.C82F			Q08AD1	CAMP2_HUMAN	calmodulin regulated spectrin-associated protein family, member 2	82					microtubule cytoskeleton organization (GO:0000226)|regulation of organelle organization (GO:0033043)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)	microtubule minus-end binding (GO:0051011)	p.C82F(1)									GAACTATACTGTCGTGCTGGG	0.443																																																1	Substitution - Missense(1)	ovary(1)	1											170.0	170.0	170.0					1																	200730072		2203	4300	6503	198996695	SO:0001583	missense	23271			AB029001	CCDS1404.1, CCDS72998.1, CCDS72999.1	1q32	2011-08-18	2011-08-18	2011-08-18	ENSG00000118200	ENSG00000118200			29188	protein-coding gene	gene with protein product		613775	"""calmodulin regulated spectrin-associated protein 1-like 1"""	CAMSAP1L1		15897902, 19508979	Standard	XM_005245040		Approved	KIAA1078	uc001gvk.3	Q08AD1	OTTHUMG00000035740	ENST00000236925.4:c.245G>T	1.37:g.200730072G>T	ENSP00000236925:p.Cys82Phe		198996695	B1APG6|Q08AD2|Q6PGN8|Q96FB3|Q9UG20|Q9UPS4	Missense_Mutation	SNP	ENST00000236925.4	37		.	.	.	.	.	.	.	.	.	.	G	24.8	4.570709	0.86542	.	.	ENSG00000118200	ENST00000358823;ENST00000413307;ENST00000236925	T;T;T	0.25414	1.8;1.9;1.8	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.57403	0.2051	M	0.82517	2.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.996;0.999	T	0.61647	-0.7020	10	0.87932	D	0	-17.0555	19.3716	0.94490	0.0:0.0:1.0:0.0	.	82;82;82	Q08AD1-2;Q08AD1;Q08AD1-3	.;CAMP2_HUMAN;.	F	82	ENSP00000351684:C82F;ENSP00000416800:C82F;ENSP00000236925:C82F	ENSP00000236925:C82F	C	+	2	0	CAMSAP1L1	198996695	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.263000	0.95617	2.805000	0.96524	0.655000	0.94253	TGT		0.443	CAMSAP2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000086956.2	NM_203459	
EXO1	9156	broad.mit.edu	37	1	242035397	242035397	+	Missense_Mutation	SNP	A	A	C			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	A	A	C	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr1:242035397A>C	ENST00000366548.3	+	12	1924	c.1331A>C	c.(1330-1332)aAa>aCa	p.K444T	EXO1_ENST00000348581.5_Missense_Mutation_p.K444T|EXO1_ENST00000518483.1_Missense_Mutation_p.K444T	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	444	Interaction with MLH1.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mismatch repair (GO:0006298)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|somatic hypermutation of immunoglobulin genes (GO:0016446)	nucleus (GO:0005634)	5'-3' exodeoxyribonuclease activity (GO:0035312)|5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|double-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0051908)|exonuclease activity (GO:0004527)|flap endonuclease activity (GO:0048256)|metal ion binding (GO:0046872)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|single-stranded DNA 5'-3' exodeoxyribonuclease activity (GO:0045145)|structure-specific DNA binding (GO:0043566)	p.K444T(1)		NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AAGACCAAGAAAAATAGCTCT	0.363								Editing and processing nucleases																																								1	Substitution - Missense(1)	ovary(1)	1											46.0	46.0	46.0					1																	242035397		2203	4300	6503	240102020	SO:0001583	missense	9156			AF042282	CCDS1620.1, CCDS44336.1	1q42-q43	2008-07-18			ENSG00000174371	ENSG00000174371			3511	protein-coding gene	gene with protein product	"""rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1"""	606063				9685493, 9788596	Standard	NM_003686		Approved	HEX1, hExoI	uc001hzh.3	Q9UQ84	OTTHUMG00000039965	ENST00000366548.3:c.1331A>C	1.37:g.242035397A>C	ENSP00000355506:p.Lys444Thr		240102020	O60545|O75214|O75466|Q5T396|Q96IJ1|Q9UG38|Q9UNW0	Missense_Mutation	SNP	ENST00000366548.3	37	CCDS1620.1	.	.	.	.	.	.	.	.	.	.	A	5.248	0.231168	0.09969	.	.	ENSG00000174371	ENST00000366548;ENST00000348581;ENST00000518483	T;T;T	0.35048	1.33;1.33;1.33	5.83	2.2	0.27929	.	0.534275	0.20722	N	0.086894	T	0.28532	0.0706	M	0.63428	1.95	0.21675	N	0.999598	B;B;B	0.21147	0.031;0.052;0.031	B;B;B	0.23716	0.022;0.048;0.02	T	0.31166	-0.9953	10	0.17369	T	0.5	-1.1247	3.4252	0.07408	0.6394:0.1152:0.1339:0.1115	.	443;444;444	A8K5H6;Q9UQ84-4;Q9UQ84	.;.;EXO1_HUMAN	T	444	ENSP00000355506:K444T;ENSP00000311873:K444T;ENSP00000430251:K444T	ENSP00000311873:K444T	K	+	2	0	EXO1	240102020	1.000000	0.71417	0.516000	0.27786	0.119000	0.20118	0.762000	0.26503	-0.097000	0.12307	-1.162000	0.01777	AAA		0.363	EXO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096405.1	NM_006027	
HBD	3045	broad.mit.edu	37	11	5255416	5255416	+	Missense_Mutation	SNP	C	C	G	rs281864505		TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr11:5255416C>G	ENST00000380299.3	-	2	334	c.120G>C	c.(118-120)caG>caC	p.Q40H	HBD_ENST00000292901.3_Missense_Mutation_p.Q40H	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	40					blood coagulation (GO:0007596)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|hemoglobin complex (GO:0005833)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)	p.Q40H(1)		endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAAGAACCTCTGGGTCCAAG	0.512																																																1	Substitution - Missense(1)	ovary(1)	11											100.0	98.0	99.0					11																	5255416		2201	4298	6499	5211992	SO:0001583	missense	3045			AY034468	CCDS31376.1	11p15.5	2012-10-02			ENSG00000223609	ENSG00000223609			4829	protein-coding gene	gene with protein product		142000				2649166	Standard	NM_000519		Approved		uc001maf.1	P02042	OTTHUMG00000066674	ENST00000380299.3:c.120G>C	11.37:g.5255416C>G	ENSP00000369654:p.Gln40His		5211992	Q3Y5H3|Q8WXT7	Missense_Mutation	SNP	ENST00000380299.3	37	CCDS31376.1	.	.	.	.	.	.	.	.	.	.	C	19.17	3.774791	0.70107	.	.	ENSG00000223609	ENST00000292901;ENST00000380299;ENST00000429817	D;D;D	0.94687	-3.26;-3.49;-3.26	4.45	2.56	0.30785	Globin-like (1);Globin, structural domain (1);	0.222160	0.47852	D	0.000210	D	0.96577	0.8883	M	0.92077	3.27	0.58432	D	0.999995	P	0.46987	0.888	P	0.54100	0.742	D	0.96452	0.9335	10	0.72032	D	0.01	-3.6858	10.1864	0.43000	0.0:0.823:0.0:0.177	.	40	P02042	HBD_HUMAN	H	40	ENSP00000292901:Q40H;ENSP00000369654:Q40H;ENSP00000393810:Q40H	ENSP00000292901:Q40H	Q	-	3	2	HBD	5211992	1.000000	0.71417	0.978000	0.43139	0.847000	0.48162	2.163000	0.42377	1.224000	0.43551	0.585000	0.79938	CAG		0.512	HBD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142970.1	NM_000519	
ZFPL1	7542	broad.mit.edu	37	11	64855506	64855506	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr11:64855506C>T	ENST00000294258.3	+	8	1005	c.853C>T	c.(853-855)Cgc>Tgc	p.R285C	AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	285					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.R285C(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CCTCATGTCTCGCCTAGGCCG	0.682																																																1	Substitution - Missense(1)	ovary(1)	11											81.0	81.0	81.0					11																	64855506		2201	4297	6498	64612082	SO:0001583	missense	7542				CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"""zinc-finger protein in MEN1 region"""					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.853C>T	11.37:g.64855506C>T	ENSP00000294258:p.Arg285Cys		64612082	A8K7E9|O14616|Q9UID0	Missense_Mutation	SNP	ENST00000294258.3	37	CCDS8092.1	.	.	.	.	.	.	.	.	.	.	C	19.76	3.887873	0.72410	.	.	ENSG00000162300	ENST00000294258	T	0.49139	0.79	5.14	5.14	0.70334	.	0.133602	0.49916	D	0.000131	T	0.54111	0.1838	L	0.39898	1.24	0.80722	D	1	D	0.76494	0.999	P	0.60949	0.881	T	0.54997	-0.8209	10	0.66056	D	0.02	-30.5236	11.0648	0.47968	0.1849:0.8151:0.0:0.0	.	285	O95159	ZFPL1_HUMAN	C	285	ENSP00000294258:R285C	ENSP00000294258:R285C	R	+	1	0	ZFPL1	64612082	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.759000	0.62227	2.667000	0.90743	0.655000	0.94253	CGC		0.682	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385196.1	NM_006782	
OR2AT4	341152	broad.mit.edu	37	11	74800171	74800171	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr11:74800171G>T	ENST00000305159.3	-	1	628	c.588C>A	c.(586-588)gaC>gaA	p.D196E		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	196						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D196E(1)		endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GGGGGGTGGTGTCAGAGCAGG	0.567																																																1	Substitution - Missense(1)	ovary(1)	11											57.0	51.0	53.0					11																	74800171		2200	4293	6493	74477819	SO:0001583	missense	341152			BK004820	CCDS31639.1	11q13.4	2012-08-09			ENSG00000171561	ENSG00000171561		"""GPCR / Class A : Olfactory receptors"""	19620	protein-coding gene	gene with protein product							Standard	NM_001005285		Approved		uc010rro.2	A6NND4	OTTHUMG00000165370	ENST00000305159.3:c.588C>A	11.37:g.74800171G>T	ENSP00000304846:p.Asp196Glu		74477819	B9EGZ8	Missense_Mutation	SNP	ENST00000305159.3	37	CCDS31639.1	.	.	.	.	.	.	.	.	.	.	G	18.61	3.660523	0.67586	.	.	ENSG00000171561	ENST00000305159	T	0.39997	1.05	5.26	3.16	0.36331	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33772	U	0.004566	T	0.56688	0.2002	M	0.62088	1.915	0.28559	N	0.911221	D	0.76494	0.999	D	0.74348	0.983	T	0.51616	-0.8683	10	0.87932	D	0	.	9.2181	0.37360	0.1927:0.0:0.8073:0.0	.	196	A6NND4	O2AT4_HUMAN	E	196	ENSP00000304846:D196E	ENSP00000304846:D196E	D	-	3	2	OR2AT4	74477819	0.433000	0.25562	0.997000	0.53966	0.915000	0.54546	0.552000	0.23376	1.189000	0.43028	0.650000	0.86243	GAC		0.567	OR2AT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383734.1	NM_001005285	
ATP2B1	490	broad.mit.edu	37	12	89997553	89997553	+	Missense_Mutation	SNP	C	C	G			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	G	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr12:89997553C>G	ENST00000428670.3	-	17	3240	c.2784G>C	c.(2782-2784)atG>atC	p.M928I	ATP2B1_ENST00000261173.2_Missense_Mutation_p.M928I|ATP2B1_ENST00000393164.2_Missense_Mutation_p.M671I|ATP2B1_ENST00000359142.3_Missense_Mutation_p.M928I|ATP2B1_ENST00000348959.3_Missense_Mutation_p.M928I			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	928					blood coagulation (GO:0007596)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)	p.M928I(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TATTCTTCATCATTGTACGTG	0.403																																																1	Substitution - Missense(1)	ovary(1)	12											131.0	122.0	125.0					12																	89997553		2203	4300	6503	88521684	SO:0001583	missense	490			J04027	CCDS9035.1, CCDS41817.1	12q21.33	2010-04-20			ENSG00000070961	ENSG00000070961	3.6.3.8	"""ATPases / P-type"""	814	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 1"""	108731				1674727	Standard	NM_001682		Approved	PMCA1	uc001tbh.3	P20020		ENST00000428670.3:c.2784G>C	12.37:g.89997553C>G	ENSP00000392043:p.Met928Ile		88521684	Q12992|Q12993|Q13819|Q13820|Q13821|Q16504|Q93082	Missense_Mutation	SNP	ENST00000428670.3	37	CCDS9035.1	.	.	.	.	.	.	.	.	.	.	C	32	5.110404	0.94292	.	.	ENSG00000070961	ENST00000261173;ENST00000348959;ENST00000359142;ENST00000428670;ENST00000393164	D;D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03;-4.03	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.98588	0.9528	M	0.92923	3.36	0.80722	D	1	D;D;D	0.67145	0.962;0.962;0.996	D;P;P	0.66716	0.946;0.859;0.873	D	0.98837	1.0753	10	0.66056	D	0.02	-27.3567	20.3242	0.98691	0.0:1.0:0.0:0.0	.	928;928;928	P20020-3;P20020-2;P20020-6	.;.;.	I	928;928;928;928;671	ENSP00000261173:M928I;ENSP00000343599:M928I;ENSP00000352054:M928I;ENSP00000392043:M928I;ENSP00000376869:M671I	ENSP00000261173:M928I	M	-	3	0	ATP2B1	88521684	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.882000	0.98803	0.655000	0.94253	ATG		0.403	ATP2B1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406653.1	NM_001682	
ATP6V0A2	23545	broad.mit.edu	37	12	124220090	124220090	+	Silent	SNP	C	C	T	rs144293398		TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr12:124220090C>T	ENST00000330342.3	+	8	992	c.744C>T	c.(742-744)caC>caT	p.H248H		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	248					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|immune response (GO:0006955)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	hydrogen ion transmembrane transporter activity (GO:0015078)	p.H248H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		ACCACTGCCACGTGTACCCCT	0.542																																																1	Substitution - coding silent(1)	ovary(1)	12						C		0,4406		0,0,2203	93.0	81.0	85.0		744	-0.2	0.0	12	dbSNP_134	85	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ATP6V0A2	NM_012463.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		248/857	124220090	1,13005	2203	4300	6503	122786043	SO:0001819	synonymous_variant	23545			AF112972	CCDS9254.1	12q24.31	2010-04-21	2006-01-20		ENSG00000185344	ENSG00000185344		"""ATPases / V-type"""	18481	protein-coding gene	gene with protein product	"""infantile malignant osteopetrosis"""	611716	"""infantile malignant osteopetrosis"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 2"", ""ATPase, H+ transporting, lysosomal V0 subunit A2"""			2247090, 18157129	Standard	NM_012463		Approved	TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1	uc001ufr.3	Q9Y487	OTTHUMG00000168723	ENST00000330342.3:c.744C>T	12.37:g.124220090C>T			122786043	A8K026|Q6NUM0	Silent	SNP	ENST00000330342.3	37	CCDS9254.1																																																																																				0.542	ATP6V0A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400765.2	NM_012463	
GPC5	2262	broad.mit.edu	37	13	92345782	92345782	+	Missense_Mutation	SNP	C	C	T	rs373344201		TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr13:92345782C>T	ENST00000377067.3	+	3	1039	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	223					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)		p.R223C(1)		NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				GCTGCCCAGCCGCACTTTTCT	0.522																																																1	Substitution - Missense(1)	ovary(1)	13						C	CYS/ARG	0,4406		0,0,2203	48.0	44.0	46.0		667	5.2	1.0	13		46	1,8599	1.2+/-3.3	0,1,4299	no	missense	GPC5	NM_004466.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	223/573	92345782	1,13005	2203	4300	6503	91143783	SO:0001583	missense	2262			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.667C>T	13.37:g.92345782C>T	ENSP00000366267:p.Arg223Cys		91143783	B2R726|O60436|Q9BX27	Missense_Mutation	SNP	ENST00000377067.3	37	CCDS9468.1	.	.	.	.	.	.	.	.	.	.	C	18.56	3.650021	0.67472	0.0	1.16E-4	ENSG00000179399	ENST00000377067	T	0.62232	0.04	5.23	5.23	0.72850	.	0.054231	0.64402	D	0.000002	T	0.80788	0.4690	M	0.86864	2.845	0.48341	D	0.999636	D	0.89917	1.0	D	0.87578	0.998	D	0.83958	0.0320	10	0.87932	D	0	.	12.8321	0.57752	0.1632:0.8368:0.0:0.0	.	223	P78333	GPC5_HUMAN	C	223	ENSP00000366267:R223C	ENSP00000366267:R223C	R	+	1	0	GPC5	91143783	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	3.267000	0.51577	2.428000	0.82296	0.467000	0.42956	CGC		0.522	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045454.1	NM_004466	
SLC10A2	6555	broad.mit.edu	37	13	103703768	103703768	+	Silent	SNP	C	C	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr13:103703768C>T	ENST00000245312.3	-	4	1196	c.600G>A	c.(598-600)gcG>gcA	p.A200A		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	200					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteasome complex (GO:0000502)	bile acid:sodium symporter activity (GO:0008508)	p.A200A(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)				Aciclovir(DB00787)|Cyclosporine(DB00091)|Ursodeoxycholic acid(DB01586)|Valaciclovir(DB00577)	GGATGGCGCCCGCGATGGACC	0.438																																																1	Substitution - coding silent(1)	ovary(1)	13											56.0	56.0	56.0					13																	103703768		2203	4300	6503	102501769	SO:0001819	synonymous_variant	6555			U10417	CCDS9506.1	13q33	2013-07-18	2013-07-18		ENSG00000125255	ENSG00000125255		"""Solute carriers"""	10906	protein-coding gene	gene with protein product		601295		ASBT, ISBT		8661017	Standard	NM_000452		Approved		uc001vpy.4	Q12908	OTTHUMG00000017313	ENST00000245312.3:c.600G>A	13.37:g.103703768C>T			102501769	A1L4F4|Q13839	Silent	SNP	ENST00000245312.3	37	CCDS9506.1																																																																																				0.438	SLC10A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045716.1		
MCF2L	23263	broad.mit.edu	37	13	113699656	113699656	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr13:113699656C>T	ENST00000375608.3	+	5	498	c.440C>T	c.(439-441)gCg>gTg	p.A147V	MCF2L_ENST00000375597.4_Missense_Mutation_p.A115V|MCF2L_ENST00000397030.1_Missense_Mutation_p.A150V|MCF2L_ENST00000442652.2_Missense_Mutation_p.A147V|MCF2L_ENST00000434480.2_Missense_Mutation_p.A123V|MCF2L_ENST00000423482.2_Missense_Mutation_p.A115V|MCF2L_ENST00000375601.3_Missense_Mutation_p.A121V|MCF2L_ENST00000535094.2_Missense_Mutation_p.A117V|MCF2L_ENST00000421756.1_Missense_Mutation_p.A121V|MCF2L_ENST00000480321.1_3'UTR|MCF2L_ENST00000397021.1_Missense_Mutation_p.A79V|MCF2L_ENST00000375604.2_Missense_Mutation_p.A174V			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	147	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.A115V(1)		kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TCCGTGAAGGCGTCCGTCCTG	0.652																																																1	Substitution - Missense(1)	ovary(1)	13											66.0	61.0	63.0					13																	113699656		2203	4300	6503	112747657	SO:0001583	missense	23263			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.440C>T	13.37:g.113699656C>T	ENSP00000364758:p.Ala147Val		112747657	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	ENST00000375608.3	37		.	.	.	.	.	.	.	.	.	.	C	23.5	4.421054	0.83559	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000430480;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000409954;ENST00000423482;ENST00000375597;ENST00000397021;ENST00000423251	T;T;T;T;T;T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06	4.29	4.29	0.51040	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.058796	0.64402	D	0.000002	T	0.75664	0.3880	M	0.76574	2.34	0.29653	N	0.843804	D;D;D;D;D;D	0.71674	0.997;0.997;0.995;0.998;0.971;0.998	P;P;P;D;P;D	0.67382	0.847;0.847;0.856;0.951;0.642;0.951	T	0.73069	-0.4099	10	0.56958	D	0.05	.	12.3996	0.55405	0.0:1.0:0.0:0.0	.	115;117;174;79;115;147	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.;.;.;.;.;MCF2L_HUMAN	V	147;147;174;150;117;117;121;121;123;88;115;115;79;37	ENSP00000364758:A147V;ENSP00000401422:A147V;ENSP00000364754:A174V;ENSP00000380225:A150V;ENSP00000440374:A117V;ENSP00000397285:A121V;ENSP00000364751:A121V;ENSP00000407722:A123V;ENSP00000386551:A88V;ENSP00000405639:A115V;ENSP00000364747:A115V;ENSP00000405996:A37V	ENSP00000364747:A115V	A	+	2	0	MCF2L	112747657	0.993000	0.37304	0.957000	0.39632	0.742000	0.42306	3.213000	0.51153	2.373000	0.80994	0.561000	0.74099	GCG		0.652	MCF2L-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045849.4		
PELI2	57161	broad.mit.edu	37	14	56763463	56763463	+	Missense_Mutation	SNP	G	G	A			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr14:56763463G>A	ENST00000267460.4	+	6	1128	c.842G>A	c.(841-843)cGg>cAg	p.R281Q		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	281					innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein phosphorylation (GO:0001934)|protein ubiquitination (GO:0016567)|Toll signaling pathway (GO:0008063)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)	cytosol (GO:0005829)	ligase activity (GO:0016874)	p.R281Q(2)		kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						AACGCCGCCCGGCCTCAGTGT	0.582																																																2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	14											43.0	46.0	45.0					14																	56763463		2203	4300	6503	55833216	SO:0001583	missense	57161			AF302502	CCDS9726.1	14q21	2012-02-23	2012-02-23		ENSG00000139946	ENSG00000139946		"""Pellino homologs"""	8828	protein-coding gene	gene with protein product		614798	"""pellino (Drosophila) homolog 2"", ""pellino homolog 2 (Drosophila)"""			11306823, 12860405	Standard	XM_006720211		Approved		uc001xch.3	Q9HAT8	OTTHUMG00000152336	ENST00000267460.4:c.842G>A	14.37:g.56763463G>A	ENSP00000267460:p.Arg281Gln		55833216	B2RDY5	Missense_Mutation	SNP	ENST00000267460.4	37	CCDS9726.1	.	.	.	.	.	.	.	.	.	.	G	35	5.511619	0.96402	.	.	ENSG00000139946	ENST00000267460	T	0.53857	0.6	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.77572	0.4150	M	0.87269	2.87	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.81353	-0.0971	10	0.72032	D	0.01	-28.749	19.2373	0.93866	0.0:0.0:1.0:0.0	.	281	Q9HAT8	PELI2_HUMAN	Q	281	ENSP00000267460:R281Q	ENSP00000267460:R281Q	R	+	2	0	PELI2	55833216	1.000000	0.71417	0.803000	0.32268	0.986000	0.74619	9.855000	0.99526	2.557000	0.86248	0.555000	0.69702	CGG		0.582	PELI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276925.1		
UNC79	57578	broad.mit.edu	37	14	94103632	94103632	+	Silent	SNP	A	A	G			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr14:94103632A>G	ENST00000393151.2	+	33	5904	c.5904A>G	c.(5902-5904)ccA>ccG	p.P1968P	UNC79_ENST00000553484.1_Silent_p.P1990P|UNC79_ENST00000555664.1_Silent_p.P1929P|UNC79_ENST00000256339.4_Silent_p.P1791P			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1968					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.P1791P(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						agggacagccattgaggatga	0.502																																																1	Substitution - coding silent(1)	ovary(1)	14											132.0	95.0	108.0					14																	94103632		2203	4300	6503	93173385	SO:0001819	synonymous_variant	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.5904A>G	14.37:g.94103632A>G			93173385	B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37																																																																																					0.502	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
SALL1	6299	broad.mit.edu	37	16	51175937	51175937	+	Missense_Mutation	SNP	T	T	G			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Capture;Sequenom			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr16:51175937T>G	ENST00000251020.4	-	2	229	c.196A>C	c.(196-198)Act>Cct	p.T66P	SALL1_ENST00000562674.1_5'Flank|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_5'UTR	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	66					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T66P(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TGATTTTTAGTACAGTTCTTC	0.473																																					GBM(103;1352 1446 1855 4775 8890)											1	Substitution - Missense(1)	ovary(1)	16											80.0	87.0	85.0					16																	51175937		2198	4300	6498	49733438	SO:0001583	missense	6299			X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.196A>C	16.37:g.51175937T>G	ENSP00000251020:p.Thr66Pro		49733438	Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	T	16.73	3.205322	0.58234	.	.	ENSG00000103449	ENST00000251020;ENST00000457559	T	0.49432	0.78	5.37	5.37	0.77165	.	0.044847	0.85682	D	0.000000	T	0.54271	0.1848	M	0.67953	2.075	0.80722	D	1	D	0.54397	0.966	P	0.47299	0.543	T	0.61237	-0.7103	10	0.66056	D	0.02	.	15.373	0.74581	0.0:0.0:0.0:1.0	.	66	Q9NSC2	SALL1_HUMAN	P	66	ENSP00000251020:T66P	ENSP00000251020:T66P	T	-	1	0	SALL1	49733438	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	5.004000	0.63966	2.022000	0.59522	0.454000	0.30748	ACT		0.473	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968	
TP53	7157	broad.mit.edu	37	17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	rs148924904		TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	T	T	C	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr17:7578442T>C	ENST00000269305.4	-	5	677	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000420246.2_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	163	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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)	Acetylsalicylic acid(DB00945)	TGACTGCTTGTAGATGGCCAT	0.622		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)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	183	Substitution - Missense(167)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)	lung(49)|breast(34)|haematopoietic_and_lymphoid_tissue(14)|ovary(14)|urinary_tract(13)|large_intestine(10)|upper_aerodigestive_tract(9)|central_nervous_system(7)|oesophagus(7)|stomach(6)|biliary_tract(6)|bone(4)|pancreas(3)|soft_tissue(2)|liver(2)|endometrium(1)|salivary_gland(1)|prostate(1)	17	GRCh37	CM942135	TP53	M	rs148924904						53.0	54.0	53.0					17																	7578442		2203	4300	6503	7519167	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.488A>G	17.37:g.7578442T>C	ENSP00000269305:p.Tyr163Cys		7519167	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.567047	0.45694	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99872	-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36;-7.36	5.59	3.32	0.38043	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.062225	0.64402	D	0.000003	D	0.99746	0.9899	M	0.70595	2.14	0.58432	D	0.999992	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.996;0.999;0.983;0.999;1.0;0.999;0.994	D	0.98089	1.0408	10	0.87932	D	0	-16.6607	9.5833	0.39501	0.2797:0.0:0.0:0.7203	.	124;163;163;70;163;163;163	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	163;163;163;163;163;163;152;70;31;70;31;163	ENSP00000410739:Y163C;ENSP00000352610:Y163C;ENSP00000269305:Y163C;ENSP00000398846:Y163C;ENSP00000391127:Y163C;ENSP00000391478:Y163C;ENSP00000425104:Y31C;ENSP00000423862:Y70C;ENSP00000424104:Y163C	ENSP00000269305:Y163C	Y	-	2	0	TP53	7519167	1.000000	0.71417	0.998000	0.56505	0.050000	0.14768	5.141000	0.64814	0.446000	0.26666	0.533000	0.62120	TAC		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
MED1	5469	broad.mit.edu	37	17	37565611	37565611	+	Missense_Mutation	SNP	C	C	T	rs369612086		TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr17:37565611C>T	ENST00000300651.6	-	17	3086	c.2863G>A	c.(2863-2865)Ggt>Agt	p.G955S	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.G955S(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		AGTAAAGGACCCTGACTACCA	0.478										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)											1	Substitution - Missense(1)	ovary(1)	17						C	SER/GLY	0,4406		0,0,2203	79.0	77.0	78.0		2863	4.6	1.0	17		78	1,8599	1.2+/-3.3	0,1,4299	no	missense	MED1	NM_004774.3	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	955/1582	37565611	1,13005	2203	4300	6503	34819137	SO:0001583	missense	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000300651.6:c.2863G>A	17.37:g.37565611C>T	ENSP00000300651:p.Gly955Ser		34819137	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	ENST00000300651.6	37	CCDS11336.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.783790	0.00628	0.0	1.16E-4	ENSG00000125686	ENST00000300651	T	0.19938	2.11	5.65	4.58	0.56647	.	.	.	.	.	T	0.06826	0.0174	N	0.01576	-0.805	0.30646	N	0.755945	B	0.02656	0.0	B	0.01281	0.0	T	0.20538	-1.0272	9	0.02654	T	1	-4.581	11.0004	0.47602	0.0:0.0734:0.0:0.9266	.	955	Q15648	MED1_HUMAN	S	955	ENSP00000300651:G955S	ENSP00000300651:G955S	G	-	1	0	MED1	34819137	1.000000	0.71417	1.000000	0.80357	0.596000	0.36781	4.491000	0.60326	1.164000	0.42652	-0.302000	0.09304	GGT		0.478	MED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256943.3	NM_004774	
FCGBP	8857	broad.mit.edu	37	19	40362795	40362795	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr19:40362795C>T	ENST00000221347.6	-	32	15282	c.15275G>A	c.(15274-15276)cGc>cAc	p.R5092H		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5092						extracellular vesicular exosome (GO:0070062)		p.R5092H(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TGCCAGGCTGCGGCACAGGAA	0.652																																																1	Substitution - Missense(1)	ovary(1)	19											75.0	76.0	75.0					19																	40362795		2203	4300	6503	45054635	SO:0001583	missense	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15275G>A	19.37:g.40362795C>T	ENSP00000221347:p.Arg5092His		45054635	O95784	Missense_Mutation	SNP	ENST00000221347.6	37	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	c	12.68	2.009741	0.35415	.	.	ENSG00000090920	ENST00000221347	T	0.76709	-1.04	4.92	0.408	0.16377	Uncharacterised domain, cysteine-rich (2);	0.570198	0.17153	N	0.184966	T	0.69700	0.3140	L	0.55213	1.73	0.09310	N	0.999999	P	0.43231	0.801	B	0.41571	0.36	T	0.60047	-0.7339	10	0.44086	T	0.13	.	7.4216	0.27075	0.0:0.5459:0.0:0.4541	.	5092	Q9Y6R7	FCGBP_HUMAN	H	5092	ENSP00000221347:R5092H	ENSP00000221347:R5092H	R	-	2	0	FCGBP	45054635	0.000000	0.05858	0.899000	0.35326	0.579000	0.36224	-0.513000	0.06305	0.027000	0.15297	0.457000	0.33378	CGC		0.652	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
MRPS5	64969	broad.mit.edu	37	2	95766251	95766251	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr2:95766251C>T	ENST00000272418.2	-	10	1107	c.899G>A	c.(898-900)aGg>aAg	p.R300K		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	300					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.R300K(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GATATGCGTCCTTTTAAATCT	0.328																																																1	Substitution - Missense(1)	ovary(1)	2											150.0	157.0	154.0					2																	95766251		2203	4300	6503	95129978	SO:0001583	missense	64969			AB049940	CCDS2010.1	2p11.2-q11.2	2012-09-13			ENSG00000144029	ENSG00000144029		"""Mitochondrial ribosomal proteins / small subunits"""	14498	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S5"""	611972					Standard	NM_031902		Approved	MRP-S5, S5mt	uc002sub.3	P82675	OTTHUMG00000130394	ENST00000272418.2:c.899G>A	2.37:g.95766251C>T	ENSP00000272418:p.Arg300Lys		95129978	Q4ZFY5|Q96LJ6|Q9BWI4|Q9BYC4	Missense_Mutation	SNP	ENST00000272418.2	37	CCDS2010.1	.	.	.	.	.	.	.	.	.	.	C	6.048	0.377130	0.11466	.	.	ENSG00000144029	ENST00000272418	.	.	.	5.67	3.85	0.44370	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5, C-terminal (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.134947	0.64402	N	0.000005	T	0.36138	0.0956	N	0.16833	0.445	0.45883	D	0.998735	B	0.02656	0.0	B	0.11329	0.006	T	0.12915	-1.0529	9	0.08599	T	0.76	-28.5822	10.9743	0.47456	0.0:0.8428:0.0:0.1572	.	300	P82675	RT05_HUMAN	K	300	.	ENSP00000272418:R300K	R	-	2	0	MRPS5	95129978	0.975000	0.34042	1.000000	0.80357	0.914000	0.54420	0.827000	0.27421	1.397000	0.46682	0.591000	0.81541	AGG		0.328	MRPS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252772.1	NM_031902	
BAZ2B	29994	broad.mit.edu	37	2	160289481	160289481	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr2:160289481C>T	ENST00000392783.2	-	9	2182	c.1687G>A	c.(1687-1689)Ggg>Agg	p.G563R	BAZ2B_ENST00000392782.1_Missense_Mutation_p.G561R|BAZ2B_ENST00000355831.2_Missense_Mutation_p.G563R|BAZ2B_ENST00000343439.5_Missense_Mutation_p.G561R	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	563					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.G563R(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TTTTCCTTCCCTTGACTATGC	0.448																																																1	Substitution - Missense(1)	ovary(1)	2											196.0	182.0	187.0					2																	160289481		1909	4126	6035	159997727	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.1687G>A	2.37:g.160289481C>T	ENSP00000376534:p.Gly563Arg		159997727	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	14.56	2.570509	0.45798	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.59364	0.27;0.27;0.27;0.27	5.92	5.92	0.95590	.	0.000000	0.37669	U	0.001981	T	0.68677	0.3027	L	0.41236	1.265	0.44282	D	0.997144	D;B;B;B;B	0.89917	1.0;0.047;0.01;0.01;0.006	D;B;B;B;B	0.85130	0.997;0.015;0.007;0.007;0.003	T	0.68988	-0.5264	10	0.62326	D	0.03	-8.9802	15.0866	0.72158	0.1417:0.8583:0.0:0.0	.	563;367;561;561;563	Q9UIF8-3;Q9UIF8-4;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;BAZ2B_HUMAN	R	561;563;563;561;500	ENSP00000376533:G561R;ENSP00000376534:G563R;ENSP00000348087:G563R;ENSP00000339670:G561R	ENSP00000339670:G561R	G	-	1	0	BAZ2B	159997727	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.112000	0.50368	2.818000	0.97014	0.655000	0.94253	GGG		0.448	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2		
CYP27A1	1593	broad.mit.edu	37	2	219677706	219677706	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr2:219677706C>T	ENST00000258415.4	+	5	1331	c.904C>T	c.(904-906)Cca>Tca	p.P302S		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	302					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)	p.P302S(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	GGCAGCAGGGCCAGATGGCAT	0.562																																																1	Substitution - Missense(1)	ovary(1)	2											76.0	78.0	78.0					2																	219677706		2203	4300	6503	219385950	SO:0001583	missense	1593			BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.904C>T	2.37:g.219677706C>T	ENSP00000258415:p.Pro302Ser		219385950	A8K303|Q6LDB4|Q86YQ6	Missense_Mutation	SNP	ENST00000258415.4	37	CCDS2423.1	.	.	.	.	.	.	.	.	.	.	C	3.661	-0.069617	0.07228	.	.	ENSG00000135929	ENST00000258415;ENST00000411688	T;D	0.83755	-1.01;-1.76	5.44	2.41	0.29592	.	0.638054	0.17143	N	0.185366	T	0.66877	0.2834	N	0.25201	0.72	0.27036	N	0.964133	B	0.25521	0.128	B	0.22386	0.039	T	0.52147	-0.8614	10	0.20046	T	0.44	-1.3191	6.1473	0.20293	0.155:0.6688:0.0:0.1762	.	302	Q02318	CP27A_HUMAN	S	302;208	ENSP00000258415:P302S;ENSP00000392671:P208S	ENSP00000258415:P302S	P	+	1	0	CYP27A1	219385950	0.000000	0.05858	0.685000	0.30070	0.036000	0.12997	-0.200000	0.09478	0.828000	0.34709	-0.182000	0.12963	CCA		0.562	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109734.4		
STXBP5L	9515	broad.mit.edu	37	3	120764381	120764381	+	Splice_Site	SNP	C	C	T	rs369496199		TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr3:120764381C>T	ENST00000273666.6	+	5	740	c.469C>T	c.(469-471)Cga>Tga	p.R157*	STXBP5L_ENST00000471454.1_Splice_Site_p.R157*|STXBP5L_ENST00000497029.1_Splice_Site_p.R157*|STXBP5L_ENST00000472879.1_Splice_Site_p.R157*|STXBP5L_ENST00000492541.1_Splice_Site_p.R157*	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	157					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R157*(1)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TAACCGGGAACGGTAAGAACC	0.363																																																1	Substitution - Nonsense(1)	ovary(1)	3						C	stop/ARG	1,3619		0,1,1809	122.0	119.0	120.0		469	3.6	1.0	3		120	0,8140		0,0,4070	no	stop-gained-near-splice	STXBP5L	NM_014980.2		0,1,5879	TT,TC,CC		0.0,0.0276,0.0085		157/1187	120764381	1,11759	1810	4070	5880	122247071	SO:0001630	splice_region_variant	9515			AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.470+1C>T	3.37:g.120764381C>T			122247071	Q4G1B4|Q6PIC3	Nonsense_Mutation	SNP	ENST00000273666.6	37	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.028016	0.54790	2.76E-4	0.0	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	.	.	.	5.42	3.61	0.41365	.	0.064526	0.64402	U	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.0304	13.925	0.63958	0.3938:0.6062:0.0:0.0	.	.	.	.	X	157	.	ENSP00000273666:R157X	R	+	1	2	STXBP5L	122247071	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	2.153000	0.42282	0.642000	0.30620	-0.158000	0.13435	CGA		0.363	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3		Nonsense_Mutation
SPATA16	83893	broad.mit.edu	37	3	172643203	172643203	+	Silent	SNP	C	C	A			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	A	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr3:172643203C>A	ENST00000351008.3	-	7	1344	c.1161G>T	c.(1159-1161)ggG>ggT	p.G387G		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	387					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)		p.G387G(1)		breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			TGTTTTTGAACCCAAGAGTCA	0.388																																																1	Substitution - coding silent(1)	ovary(1)	3											81.0	80.0	80.0					3																	172643203		2203	4300	6503	174125897	SO:0001819	synonymous_variant	83893			AF345909	CCDS3221.1	3q26.31	2009-01-05			ENSG00000144962	ENSG00000144962			29935	protein-coding gene	gene with protein product		609856				12529416, 17847006	Standard	NM_031955		Approved	NYD-SP12	uc003fin.4	Q9BXB7	OTTHUMG00000156865	ENST00000351008.3:c.1161G>T	3.37:g.172643203C>A			174125897	Q0R0N4|Q0R0S0|Q0R0W2|Q0R129|Q0R131|Q0R140|Q0R1B8|Q0R1G5|Q0R1I2|Q0R1J6|Q0R1S4|Q0R202|Q0R280|Q0R2F8|Q0R2N6|Q0R2N7|Q0R2R0|Q0R2R1|Q0R2S3|Q0R2S4|Q0R2S5|Q0R2T4|Q0R2T7|Q0R2U2|Q0R2U8|Q0R2U9|Q0R2V5|Q0R2V7|Q8NE67	Silent	SNP	ENST00000351008.3	37	CCDS3221.1																																																																																				0.388	SPATA16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346322.1	NM_031955	
LIPH	200879	broad.mit.edu	37	3	185251383	185251383	+	Missense_Mutation	SNP	C	C	T	rs371388993		TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr3:185251383C>T	ENST00000296252.4	-	3	643	c.502G>A	c.(502-504)Gat>Aat	p.D168N	LIPH_ENST00000424591.2_Missense_Mutation_p.D168N	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	168					lipid catabolic process (GO:0016042)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|phospholipase activity (GO:0004620)	p.D168N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			AGCCATCCATCGTACATCTCT	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17436	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	3						C	ASN/ASP	0,4406		0,0,2203	172.0	154.0	160.0		502	-7.8	0.0	3		160	1,8599	1.2+/-3.3	0,1,4299	no	missense	LIPH	NM_139248.2	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	168/452	185251383	1,13005	2203	4300	6503	186734077	SO:0001583	missense	200879			AY093498	CCDS3272.1	3q27	2012-07-31			ENSG00000163898	ENSG00000163898			18483	protein-coding gene	gene with protein product		607365				12213196, 12063250	Standard	XM_006713529		Approved	mPA-PLA1, PLA1B, mPA-PLA1alpha, LPDLR	uc003fpm.3	Q8WWY8	OTTHUMG00000156657	ENST00000296252.4:c.502G>A	3.37:g.185251383C>T	ENSP00000296252:p.Asp168Asn		186734077	A2IBA7|Q8TEC7	Missense_Mutation	SNP	ENST00000296252.4	37	CCDS3272.1	.	.	.	.	.	.	.	.	.	.	C	5.272	0.235525	0.10023	0.0	1.16E-4	ENSG00000163898	ENST00000296252;ENST00000424591	D;D	0.90732	-2.72;-2.72	5.3	-7.79	0.01218	Lipase, N-terminal (1);	0.500739	0.22494	N	0.059334	T	0.66025	0.2748	N	0.01086	-1.025	0.09310	N	1	B;B	0.11235	0.004;0.001	B;B	0.10450	0.005;0.004	T	0.58651	-0.7599	10	0.02654	T	1	-0.3705	16.0646	0.80863	0.0:0.3018:0.0:0.6982	.	168;168	A2IBA6;Q8WWY8	.;LIPH_HUMAN	N	168	ENSP00000296252:D168N;ENSP00000396384:D168N	ENSP00000296252:D168N	D	-	1	0	LIPH	186734077	0.000000	0.05858	0.000000	0.03702	0.278000	0.26855	-1.140000	0.03210	-2.033000	0.00925	-0.931000	0.02705	GAT		0.498	LIPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345153.1		
APBB2	323	broad.mit.edu	37	4	40892443	40892443	+	Silent	SNP	G	G	A			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr4:40892443G>A	ENST00000295974.8	-	12	2093	c.1464C>T	c.(1462-1464)agC>agT	p.S488S	APBB2_ENST00000513140.1_Silent_p.S467S|APBB2_ENST00000506352.1_Silent_p.S467S|APBB2_ENST00000508593.1_Silent_p.S489S	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	488	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|extracellular matrix organization (GO:0030198)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane (GO:0016020)|nucleus (GO:0005634)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|transcription factor binding (GO:0008134)	p.S467S(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						AGTGCAGCACGCTGCGGTCCA	0.622																																					Ovarian(3;20 75 16686 49997)											1	Substitution - coding silent(1)	ovary(1)	4											81.0	83.0	82.0					4																	40892443		2165	4272	6437	40587200	SO:0001819	synonymous_variant	323			U62325	CCDS43224.1, CCDS54760.1, CCDS54761.1, CCDS54762.1	4p13	2011-10-10	2008-07-31		ENSG00000163697	ENSG00000163697			582	protein-coding gene	gene with protein product	"""Fe65-like"""	602710				8955346, 9585438	Standard	NM_173075		Approved	FE65L, FE65L1, MGC35575	uc003gvn.3	Q92870	OTTHUMG00000160416	ENST00000295974.8:c.1464C>T	4.37:g.40892443G>A			40587200	B4DSL4|E9PG87|Q8IUI6	Silent	SNP	ENST00000295974.8	37	CCDS54761.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.38|10.38	1.332984|1.332984	0.24167|0.24167	.|.	.|.	ENSG00000163697|ENSG00000163697	ENST00000513493|ENST00000513611	.|.	.|.	.|.	5.78|5.78	-10.3|-10.3	0.00346|0.00346	.|.	.|.	.|.	.|.	.|.	T|T	0.30665|0.30665	0.0772|0.0772	.|.	.|.	.|.	0.39001|0.39001	D|D	0.95934|0.95934	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.36456|0.36456	-0.9747|-0.9747	4|4	.|.	.|.	.|.	-7.6985|-7.6985	0.7926|0.7926	0.01060|0.01060	0.3351:0.2777:0.1646:0.2227|0.3351:0.2777:0.1646:0.2227	.|.	.|.	.|.	.|.	V|C	25|458	.|.	.|.	A|R	-|-	2|1	0|0	APBB2|APBB2	40587200|40587200	0.001000|0.001000	0.12720|0.12720	0.003000|0.003000	0.11579|0.11579	0.986000|0.986000	0.74619|0.74619	-1.391000|-1.391000	0.02525|0.02525	-2.318000|-2.318000	0.00644|0.00644	-0.229000|-0.229000	0.12294|0.12294	GCG|CGT		0.622	APBB2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000360523.3	NM_173075	
S100Z	170591	broad.mit.edu	37	5	76171221	76171221	+	Missense_Mutation	SNP	A	A	G			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr5:76171221A>G	ENST00000317593.4	+	3	269	c.37A>G	c.(37-39)Att>Gtt	p.I13V	S100Z_ENST00000513010.1_Missense_Mutation_p.I13V	NM_130772.3	NP_570128.2	Q8WXG8	S100Z_HUMAN	S100 calcium binding protein Z	13	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.						calcium ion binding (GO:0005509)	p.I13V(1)		large_intestine(1)|ovary(1)	2		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		GGACACCATGATTAGAATCTT	0.542																																																1	Substitution - Missense(1)	ovary(1)	5											58.0	60.0	59.0					5																	76171221		1981	4168	6149	76206977	SO:0001583	missense	170591			AF437876	CCDS43333.1	5q13.3	2014-08-12	2006-09-11		ENSG00000171643	ENSG00000171643		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	30367	protein-coding gene	gene with protein product		610103	"""S100 calcium binding protein, zeta"""			11747429	Standard	NM_130772		Approved	Gm625, S100-zeta	uc003keq.4	Q8WXG8	OTTHUMG00000162441	ENST00000317593.4:c.37A>G	5.37:g.76171221A>G	ENSP00000320430:p.Ile13Val		76206977		Missense_Mutation	SNP	ENST00000317593.4	37	CCDS43333.1	.	.	.	.	.	.	.	.	.	.	A	19.65	3.866755	0.72065	.	.	ENSG00000171643	ENST00000513010;ENST00000317593	T;T	0.16324	2.35;2.35	5.69	4.51	0.55191	S100/CaBP-9k-type, calcium binding, subdomain (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.27419	0.0673	.	.	.	0.41337	D	0.98727	P	0.40578	0.722	P	0.50617	0.646	T	0.01452	-1.1351	9	0.28530	T	0.3	.	12.7426	0.57261	0.8626:0.1374:0.0:0.0	.	13	Q8WXG8	S100Z_HUMAN	V	13	ENSP00000426768:I13V;ENSP00000320430:I13V	ENSP00000320430:I13V	I	+	1	0	S100Z	76206977	1.000000	0.71417	0.941000	0.38009	0.648000	0.38561	8.825000	0.92029	0.963000	0.38082	0.533000	0.62120	ATT		0.542	S100Z-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368927.1	NM_130772	
NMUR2	56923	broad.mit.edu	37	5	151783973	151783973	+	Silent	SNP	G	G	A			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr5:151783973G>A	ENST00000255262.3	-	1	867	c.702C>T	c.(700-702)gtC>gtT	p.V234V	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	234					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|arachidonic acid secretion (GO:0050482)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell-cell signaling (GO:0007267)|central nervous system development (GO:0007417)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|feeding behavior (GO:0007631)|grooming behavior (GO:0007625)|inositol phosphate-mediated signaling (GO:0048016)|neuropeptide signaling pathway (GO:0007218)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|reduction of food intake in response to dietary excess (GO:0002023)|regulation of smooth muscle contraction (GO:0006940)|response to pain (GO:0048265)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|GTP binding (GO:0005525)|intracellular calcium activated chloride channel activity (GO:0005229)|neuromedin U binding (GO:0042924)|neuromedin U receptor activity (GO:0001607)	p.V234V(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGTAGTAGAGGACACTGATGA	0.498																																																1	Substitution - coding silent(1)	ovary(1)	5											112.0	106.0	108.0					5																	151783973		2203	4300	6503	151764166	SO:0001819	synonymous_variant	56923			AF242874	CCDS4321.1	5q33.1	2012-08-08		2004-05-28	ENSG00000132911	ENSG00000132911		"""GPCR / Class A : Neuromedin U receptors"""	16454	protein-coding gene	gene with protein product		605108		NMU2R		8940772, 10894543	Standard	NM_020167		Approved		uc003luv.2	Q9GZQ4	OTTHUMG00000130131	ENST00000255262.3:c.702C>T	5.37:g.151783973G>A			151764166	Q7LC54|Q96AM5|Q9NRA6	Silent	SNP	ENST00000255262.3	37	CCDS4321.1																																																																																				0.498	NMUR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252439.1	NM_020167	
LAMA2	3908	broad.mit.edu	37	6	129813141	129813141	+	Missense_Mutation	SNP	C	C	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr6:129813141C>T	ENST00000421865.2	+	57	8043	c.7994C>T	c.(7993-7995)gCt>gTt	p.A2665V	LAMA2_ENST00000498257.1_3'UTR	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2665	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)	p.A2665V(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTTGGGGGTGCTCCACCTGAA	0.403																																																1	Substitution - Missense(1)	ovary(1)	6											80.0	82.0	81.0					6																	129813141		2203	4300	6503	129854834	SO:0001583	missense	3908			Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.7994C>T	6.37:g.129813141C>T	ENSP00000400365:p.Ala2665Val		129854834	Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	0.565	-0.843635	0.02671	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865;ENST00000443169	T	0.76060	-0.99	5.55	4.68	0.58851	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.153716	0.64402	D	0.000015	T	0.38852	0.1056	N	0.21142	0.635	0.09310	N	1	B;B	0.33448	0.412;0.412	B;B	0.30105	0.111;0.111	T	0.14671	-1.0464	9	.	.	.	.	10.8758	0.46911	0.0:0.8558:0.0:0.1442	.	2666;2665	A6NF00;P24043	.;LAMA2_HUMAN	V	2665;2664;2665;683	ENSP00000400365:A2665V	.	A	+	2	0	LAMA2	129854834	0.816000	0.29132	0.139000	0.22197	0.010000	0.07245	1.779000	0.38624	1.482000	0.48325	-0.140000	0.14226	GCT		0.403	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1		
GPNMB	10457	broad.mit.edu	37	7	23313832	23313832	+	Missense_Mutation	SNP	G	G	C			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	G	G	C	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr7:23313832G>C	ENST00000381990.2	+	11	1869	c.1708G>C	c.(1708-1710)Gga>Cga	p.G570R	GPNMB_ENST00000258733.4_Missense_Mutation_p.G558R|GPNMB_ENST00000539136.1_Missense_Mutation_p.G459R|GPNMB_ENST00000453162.2_Missense_Mutation_p.G512R|GPNMB_ENST00000478451.1_3'UTR	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	570					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)	p.G570R(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			AGAATTTAAAGGAGTTTCTTA	0.418																																																1	Substitution - Missense(1)	ovary(1)	7											70.0	72.0	71.0					7																	23313832		2203	4300	6503	23280357	SO:0001583	missense	10457			X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1708G>C	7.37:g.23313832G>C	ENSP00000371420:p.Gly570Arg		23280357	A4D155|Q6UVX1|Q8N1A1	Missense_Mutation	SNP	ENST00000381990.2	37	CCDS34610.1	.	.	.	.	.	.	.	.	.	.	G	16.91	3.251846	0.59212	.	.	ENSG00000136235	ENST00000258733;ENST00000435486;ENST00000381990;ENST00000425903;ENST00000539136;ENST00000453162	T;T;T;T	0.16073	2.41;2.43;2.37;2.43	5.73	3.92	0.45320	.	0.456360	0.20257	N	0.095951	T	0.09113	0.0225	N	0.08118	0	0.09310	N	1	B;B;B;B	0.22683	0.073;0.073;0.044;0.073	B;B;B;B	0.25884	0.064;0.064;0.029;0.064	T	0.24548	-1.0157	10	0.87932	D	0	-0.0068	7.1898	0.25818	0.0861:0.0:0.7446:0.1693	.	459;512;570;558	F6SKP1;F5GY20;Q14956;Q14956-2	.;.;GPNMB_HUMAN;.	R	558;605;570;453;459;512	ENSP00000258733:G558R;ENSP00000371420:G570R;ENSP00000445266:G459R;ENSP00000405586:G512R	ENSP00000258733:G558R	G	+	1	0	GPNMB	23280357	0.000000	0.05858	0.002000	0.10522	0.056000	0.15407	0.355000	0.20163	0.760000	0.33108	0.561000	0.74099	GGA		0.418	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340	
ABCB1	5243	broad.mit.edu	37	7	87170747	87170747	+	Nonsense_Mutation	SNP	G	G	A			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr7:87170747G>A	ENST00000265724.3	-	19	2662	c.2245C>T	c.(2245-2247)Cga>Tga	p.R749*	ABCB1_ENST00000543898.1_Nonsense_Mutation_p.R685*	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	749	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)	p.R749*(1)		NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	CTATTCTGTCGTTTTGTTTCA	0.318																																																1	Substitution - Nonsense(1)	ovary(1)	7											105.0	107.0	107.0					7																	87170747		2203	4300	6503	87008683	SO:0001587	stop_gained	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.2245C>T	7.37:g.87170747G>A	ENSP00000265724:p.Arg749*		87008683	A8K294|B5AK60|Q12755|Q14812	Nonsense_Mutation	SNP	ENST00000265724.3	37	CCDS5608.1	.	.	.	.	.	.	.	.	.	.	G	38	7.084854	0.98051	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	.	.	.	5.65	2.22	0.28083	.	0.247117	0.37053	N	0.002279	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.5259	13.2116	0.59828	0.0:0.0:0.3273:0.6727	.	.	.	.	X	530;749;685	.	ENSP00000265724:R749X	R	-	1	2	ABCB1	87008683	0.040000	0.19996	0.211000	0.23655	0.066000	0.16364	0.910000	0.28571	0.762000	0.33152	0.655000	0.94253	CGA		0.318	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335444.2	NM_000927	
KIF24	347240	broad.mit.edu	37	9	34257952	34257952	+	Silent	SNP	C	C	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr9:34257952C>T	ENST00000402558.2	-	10	1677	c.1653G>A	c.(1651-1653)aaG>aaA	p.K551K	KIF24_ENST00000379174.3_Silent_p.K417K|KIF24_ENST00000379166.2_Silent_p.K551K|KIF24_ENST00000345050.2_Silent_p.K417K			Q5T7B8	KIF24_HUMAN	kinesin family member 24	551					ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K33K(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			AAGTGCAACACTTAATGCCTT	0.393																																																1	Substitution - coding silent(1)	ovary(1)	9											114.0	125.0	121.0					9																	34257952		2203	4300	6503	34247952	SO:0001819	synonymous_variant	347240			AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1653G>A	9.37:g.34257952C>T			34247952	Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Silent	SNP	ENST00000402558.2	37	CCDS6551.2																																																																																				0.393	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5		
LPAR1	1902	broad.mit.edu	37	9	113637932	113637932	+	Silent	SNP	G	G	A	rs149818114		TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chr9:113637932G>A	ENST00000374431.3	-	5	1247	c.864C>T	c.(862-864)gaC>gaT	p.D288D	LPAR1_ENST00000541779.1_Silent_p.D289D|LPAR1_ENST00000358883.4_Silent_p.D288D|LPAR1_ENST00000374430.2_Silent_p.D288D|LPAR1_ENST00000538760.1_Silent_p.D289D	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	288					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.D288D(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						AGGCCAGCACGTCGCACTGTG	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		16925	0.001		0.0	False		,,,				2504	0.0				NSCLC(115;661 2323 9836 34256)											1	Substitution - coding silent(1)	ovary(1)	9						G	,	1,4405	2.1+/-5.4	0,1,2202	97.0	96.0	96.0		864,864	-6.0	0.2	9	dbSNP_134	96	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LPAR1	NM_001401.3,NM_057159.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	288/365,288/365	113637932	1,13005	2203	4300	6503	112677753	SO:0001819	synonymous_variant	1902			U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.864C>T	9.37:g.113637932G>A			112677753	B4DK36|O00656|O00722|P78351	Silent	SNP	ENST00000374431.3	37	CCDS6777.1																																																																																				0.488	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053631.1	NM_057159	
HUWE1	10075	broad.mit.edu	37	X	53571652	53571652	+	Missense_Mutation	SNP	A	A	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	A	A	T	T	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chrX:53571652A>T	ENST00000342160.3	-	71	11577	c.11120T>A	c.(11119-11121)cTg>cAg	p.L3707Q	HUWE1_ENST00000474288.1_5'UTR|HUWE1_ENST00000262854.6_Missense_Mutation_p.L3707Q			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3707					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.L3597Q(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CATAGAAGGCAGCTGGAGCTC	0.532																																																1	Substitution - Missense(1)	ovary(1)	X											90.0	72.0	78.0					X																	53571652		2203	4300	6503	53588377	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.11120T>A	X.37:g.53571652A>T	ENSP00000340648:p.Leu3707Gln		53588377	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	ENST00000342160.3	37	CCDS35301.1	.	.	.	.	.	.	.	.	.	.	-	12.28	1.889334	0.33348	.	.	ENSG00000086758	ENST00000342160;ENST00000262854	T;T	0.57907	0.37;0.37	5.66	5.66	0.87406	.	0.089921	0.44097	N	0.000489	T	0.71298	0.3323	M	0.76727	2.345	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.997	D;D;D	0.78314	0.986;0.979;0.991	T	0.73369	-0.4004	10	0.49607	T	0.09	.	13.8449	0.63461	1.0:0.0:0.0:0.0	.	544;3707;3691	Q5H935;Q7Z6Z7;Q7Z6Z7-2	.;HUWE1_HUMAN;.	Q	3707	ENSP00000340648:L3707Q;ENSP00000262854:L3707Q	ENSP00000262854:L3707Q	L	-	2	0	HUWE1	53588377	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.393000	0.90182	1.914000	0.55421	0.433000	0.28618	CTG		0.532	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056766.1	XM_497119	
TEX11	56159	broad.mit.edu	37	X	69826840	69826840	+	Missense_Mutation	SNP	A	A	G			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	A	A	G	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture;Sequenom			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chrX:69826840A>G	ENST00000395889.2	-	24	2119	c.1964T>C	c.(1963-1965)aTg>aCg	p.M655T	TEX11_ENST00000344304.3_Missense_Mutation_p.M655T|TEX11_ENST00000374333.2_Missense_Mutation_p.M640T|TEX11_ENST00000374320.2_Missense_Mutation_p.M330T	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	655					chiasma assembly (GO:0051026)|fertilization (GO:0009566)|male gonad development (GO:0008584)|male meiosis chromosome segregation (GO:0007060)|meiotic gene conversion (GO:0006311)|negative regulation of apoptotic process (GO:0043066)|reciprocal meiotic recombination (GO:0007131)|resolution of meiotic recombination intermediates (GO:0000712)|synaptonemal complex assembly (GO:0007130)	central element (GO:0000801)		p.M640T(1)		breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					CTCTCTCATCATCACTGGATC	0.313																																																1	Substitution - Missense(1)	ovary(1)	X											58.0	53.0	54.0					X																	69826840		2202	4293	6495	69743565	SO:0001583	missense	56159			AF285594	CCDS35323.1, CCDS43968.1	Xp11	2008-02-05	2007-03-13		ENSG00000120498	ENSG00000120498			11733	protein-coding gene	gene with protein product		300311	"""testis expressed sequence 11"""			11279525	Standard	NM_001003811		Approved	TSGA3, TGC1	uc004dyl.3	Q8IYF3	OTTHUMG00000021782	ENST00000395889.2:c.1964T>C	X.37:g.69826840A>G	ENSP00000379226:p.Met655Thr		69743565	A8K8V6|Q5JQQ8|Q96LZ4|Q96M47|Q9BXU6	Missense_Mutation	SNP	ENST00000395889.2	37	CCDS35323.1	.	.	.	.	.	.	.	.	.	.	A	0.009	-1.859239	0.00552	.	.	ENSG00000120498	ENST00000374333;ENST00000395889;ENST00000374320;ENST00000344304	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	4.1	0.191	0.15130	.	0.665890	0.14017	N	0.347026	T	0.12860	0.0312	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23440	-1.0188	9	.	.	.	1.8766	2.9517	0.05864	0.3628:0.0:0.4404:0.1968	.	640;655	Q8IYF3-3;Q8IYF3	.;TEX11_HUMAN	T	640;655;330;655	ENSP00000363453:M640T;ENSP00000379226:M655T;ENSP00000363440:M330T;ENSP00000340995:M655T	.	M	-	2	0	TEX11	69743565	0.001000	0.12720	0.037000	0.18230	0.397000	0.30659	-0.178000	0.09782	-0.332000	0.08489	-0.292000	0.09595	ATG		0.313	TEX11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359072.1		
COL4A6	1288	broad.mit.edu	37	X	107431205	107431205	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Sequenom;Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chrX:107431205G>T	ENST00000372216.4	-	22	1743	c.1643C>A	c.(1642-1644)cCa>cAa	p.P548Q	COL4A6_ENST00000334504.7_Missense_Mutation_p.P547Q|COL4A6_ENST00000545689.1_Missense_Mutation_p.P547Q|COL4A6_ENST00000538570.1_Missense_Mutation_p.P547Q|COL4A6_ENST00000394872.2_Missense_Mutation_p.P548Q	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	548	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)	p.P547Q(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ACTGAGAATTGGTTCCCCCTT	0.517									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)											1	Substitution - Missense(1)	ovary(1)	X											94.0	93.0	93.0					X																	107431205		2203	4300	6503	107317861	SO:0001583	missense	1288	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.1643C>A	X.37:g.107431205G>T	ENSP00000361290:p.Pro548Gln		107317861	Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	ENST00000372216.4	37	CCDS14541.1	.	.	.	.	.	.	.	.	.	.	G	8.162	0.789832	0.16258	.	.	ENSG00000197565	ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1;-4.1	5.05	5.05	0.67936	.	0.361524	0.20439	N	0.092302	D	0.96015	0.8702	L	0.41906	1.305	0.09310	N	1	P;P;P;P	0.52061	0.95;0.95;0.928;0.911	P;P;P;P	0.56648	0.702;0.63;0.803;0.702	D	0.91080	0.4899	10	0.32370	T	0.25	.	15.9399	0.79745	0.0:0.0:1.0:0.0	.	547;547;548;547	F5H851;F5H3Q5;Q14031;Q14031-2	.;.;CO4A6_HUMAN;.	Q	548;547;548;547;547;547	ENSP00000361290:P548Q;ENSP00000334733:P547Q;ENSP00000378340:P548Q;ENSP00000443707:P547Q;ENSP00000445236:P547Q	ENSP00000334733:P547Q	P	-	2	0	COL4A6	107317861	0.587000	0.26791	0.005000	0.12908	0.078000	0.17371	4.291000	0.59025	2.427000	0.82271	0.513000	0.50165	CCA		0.517	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		
NKRF	55922	broad.mit.edu	37	X	118723741	118723741	+	Silent	SNP	G	G	A			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	G	G	A	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chrX:118723741G>A	ENST00000371527.1	-	2	2299	c.1647C>T	c.(1645-1647)atC>atT	p.I549I	NKRF_ENST00000304449.5_Silent_p.I549I|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000542113.1_Silent_p.I564I	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	549					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.I549I(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TATCTTCTTTGATTTGCTGTT	0.433																																																1	Substitution - coding silent(1)	ovary(1)	X											200.0	177.0	185.0					X																	118723741		2203	4300	6503	118607769	SO:0001819	synonymous_variant	55922			AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1647C>T	X.37:g.118723741G>A			118607769	G3V1N1|Q4VC41|Q9UJ91	Silent	SNP	ENST00000371527.1	37	CCDS35375.1																																																																																				0.433	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544	
MAP7D3	79649	broad.mit.edu	37	X	135302950	135302950	+	Missense_Mutation	SNP	G	G	T			TCGA-10-0926-01A-01W-0420-08	TCGA-10-0926-11A-01D-0399-08	G	G	T	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	Capture			Illumina GAIIx	ae988370-d181-455e-898e-9f2180ebaf54	afeb9ec9-93fd-461a-b331-fe4e9a59f191	g.chrX:135302950G>T	ENST00000316077.9	-	16	2680	c.2460C>A	c.(2458-2460)gaC>gaA	p.D820E	MAP7D3_ENST00000370661.1_Missense_Mutation_p.D785E|MAP7D3_ENST00000495432.1_5'Flank|MAP7D3_ENST00000370663.5_Missense_Mutation_p.D802E	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	820					microtubule cytoskeleton organization (GO:0000226)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)		p.D1117E(1)		central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					GTATTGAAGTGTCTTTCATGC	0.358																																																1	Substitution - Missense(1)	ovary(1)	X											184.0	169.0	174.0					X																	135302950		1831	4077	5908	135130616	SO:0001583	missense	79649			AL832120	CCDS44004.1, CCDS55508.1, CCDS55509.1	Xq26.3	2014-08-13			ENSG00000129680	ENSG00000129680			25742	protein-coding gene	gene with protein product		300930				24927501	Standard	NM_001173516		Approved	FLJ12649	uc004ezt.3	Q8IWC1	OTTHUMG00000022507	ENST00000316077.9:c.2460C>A	X.37:g.135302950G>T	ENSP00000318086:p.Asp820Glu		135130616	A2A2J0|A6NCZ7|A6NHR4|B4DWD2|H7BY77|Q5JXI5|Q5JXI6|Q6P2S1|Q9H9M8	Missense_Mutation	SNP	ENST00000316077.9	37	CCDS44004.1	.	.	.	.	.	.	.	.	.	.	G	7.330	0.618795	0.14129	.	.	ENSG00000129680	ENST00000370661;ENST00000316077;ENST00000370663;ENST00000370660	T;T;T;T	0.18016	2.24;3.7;3.7;2.27	3.73	-1.53	0.08611	.	.	.	.	.	T	0.06872	0.0175	N	0.24115	0.695	0.09310	N	1	P;P;B;P	0.39181	0.663;0.551;0.416;0.551	B;B;B;B	0.32149	0.141;0.135;0.064;0.135	T	0.24154	-1.0168	9	0.26408	T	0.33	-14.5836	0.6101	0.00759	0.3342:0.168:0.3243:0.1735	.	802;779;820;785	B4DWD2;Q8IWC1-2;Q8IWC1;Q8IWC1-3	.;.;MA7D3_HUMAN;.	E	785;820;802;779	ENSP00000359695:D785E;ENSP00000318086:D820E;ENSP00000359697:D802E;ENSP00000359694:D779E	ENSP00000318086:D820E	D	-	3	2	MAP7D3	135130616	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.477000	0.06583	-0.521000	0.06426	0.529000	0.55759	GAC		0.358	MAP7D3-001	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058487.2		
