#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	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	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DUSP13	51207	broad.mit.edu	37	10	76854454	76854454	+	Missense_Mutation	SNP	G	G	A	rs141915692	byFrequency	TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr10:76854454G>A	ENST00000472493.2	-	4	655	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	DUSP13_ENST00000491677.2_Missense_Mutation_p.R322W|DUSP13_ENST00000372700.3_Missense_Mutation_p.R243W|DUSP13_ENST00000605915.1_Missense_Mutation_p.R215W|DUSP13_ENST00000607131.1_Missense_Mutation_p.R286W|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000464872.1_Missense_Mutation_p.R142W|DUSP13_ENST00000478873.2_Missense_Mutation_p.R329W	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	193					meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCCGTCTCCCGCCCCAGTCGG	0.647													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17126	0.0		0.0	False		,,,				2504	0.0				NSCLC(174;1655 2059 12324 40663 42963)	ENST00000491677.2																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(964-966)Cgg>Tgg		dual specificity phosphatase 13							40.0	40.0	40.0					10																	76854454		2203	4300	6503	SO:0001583	missense	0					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76854454G>A	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000472493.2:c.577C>T	10.37:g.76854454G>A	ENSP00000444580:p.Arg193Trp					DUSP13_ENST00000607131.1_Missense_Mutation_p.R286W|DUSP13_ENST00000478873.2_Missense_Mutation_p.R329W|DUSP13_ENST00000464872.1_Missense_Mutation_p.R142W|DUSP13_ENST00000372700.3_Missense_Mutation_p.R243W|DUSP13_ENST00000472493.2_Missense_Mutation_p.R193W|DUSP13_ENST00000605915.1_Missense_Mutation_p.R215W|DUSP13_ENST00000372702.3_3'UTR	p.R322W	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN			8	1506	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		0					A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Missense_Mutation	SNP	ENST00000472493.2	37	c.964C>T	CCDS7346.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.15	3.771022	0.69992	.	.	ENSG00000079393	ENST00000308475;ENST00000472493;ENST00000491677;ENST00000372698;ENST00000464872;ENST00000372700	T;T;T;T;T	0.09255	3.58;3.58;3.41;3.0;3.56	5.52	4.61	0.57282	.	0.237986	0.43110	D	0.000611	T	0.19208	0.0461	M	0.71036	2.16	0.41210	D	0.986432	D;D;D	0.71674	0.981;0.998;0.982	B;P;B	0.46796	0.364;0.527;0.295	T	0.02829	-1.1105	10	0.72032	D	0.01	-3.8424	13.7169	0.62702	0.0:0.0:0.663:0.3369	.	243;322;193	Q9UII6-4;F2Z2C4;Q9UII6	.;.;DUS13_HUMAN	W	193;193;322;286;142;243	ENSP00000311051:R193W;ENSP00000444580:R193W;ENSP00000436312:R322W;ENSP00000434041:R142W;ENSP00000361785:R243W	ENSP00000311051:R193W	R	-	1	2	DUSP13	76524460	0.002000	0.14202	1.000000	0.80357	0.823000	0.46562	0.625000	0.24477	1.305000	0.44909	-0.181000	0.13052	CGG		0.647	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3			14	20	0	0	0	1	0	14	20				
AZU1	566	broad.mit.edu	37	19	831865	831865	+	Silent	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr19:831865G>A	ENST00000233997.2	+	5	765	c.744G>A	c.(742-744)ccG>ccA	p.P248P		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	248			Missing (in 50% of the molecules).		cellular extravasation (GO:0045123)|defense response to Gram-negative bacterium (GO:0050829)|glial cell migration (GO:0008347)|induction of positive chemotaxis (GO:0050930)|inflammatory response (GO:0006954)|macrophage chemotaxis (GO:0048246)|microglial cell activation (GO:0001774)|monocyte activation (GO:0042117)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fractalkine biosynthetic process (GO:0050754)|positive regulation of interleukin-1 beta biosynthetic process (GO:0050725)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of vascular permeability (GO:0043114)	azurophil granule (GO:0042582)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)|toxic substance binding (GO:0015643)			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCCGGGACCGGGGCCAGCCT	0.711																																						ENST00000233997.2																			0				NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10						c.(742-744)ccG>ccA		azurocidin 1							27.0	33.0	31.0					19																	831865		2189	4270	6459	SO:0001819	synonymous_variant	566				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding	g.chr19:831865G>A	X58794	CCDS12044.1	19p13.3	2012-03-30	2008-08-01		ENSG00000172232	ENSG00000172232			913	protein-coding gene	gene with protein product	"""cationic antimicrobial protein 37"", ""heparin-binding protein"", ""neutrophil azurocidin"""	162815				1919011	Standard	NM_001700		Approved	AZU, CAP37, AZAMP, HBP, NAZC, HUMAZUR	uc002lpz.1	P20160		ENST00000233997.2:c.744G>A	19.37:g.831865G>A							p.P248P	NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	765	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	248		Missing (in 50% of the molecules).			P80014|Q52LG4|Q9UCM1|Q9UCT5	Silent	SNP	ENST00000233997.2	37	c.744G>A	CCDS12044.1																																																																																				0.711	AZU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457472.2	NM_001700		20	40	0	0	0	1	0	20	40				
SOHLH1	402381	broad.mit.edu	37	9	138589409	138589409	+	Missense_Mutation	SNP	G	G	A	rs377353048		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr9:138589409G>A	ENST00000298466.5	-	4	470	c.410C>T	c.(409-411)tCg>tTg	p.S137L	SOHLH1_ENST00000425225.1_Missense_Mutation_p.S137L	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	137					oogenesis (GO:0048477)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		AATCTGACTCGACAACGTCAA	0.527																																						ENST00000298466.5																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12						c.(409-411)tCg>tTg		spermatogenesis and oogenesis specific basic helix-loop-helix 1		G	LEU/SER,LEU/SER	0,4404		0,0,2202	79.0	66.0	70.0		410,410	-0.6	0.0	9		70	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	SOHLH1	NM_001012415.2,NM_001101677.1	145,145	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	137/329,137/388	138589409	2,13002	2202	4300	6502	SO:0001583	missense	402381				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr9:138589409G>A	BC031861	CCDS35174.1, CCDS48054.1	9q34.3	2013-05-21	2006-03-16	2006-03-16	ENSG00000165643	ENSG00000165643		"""Basic helix-loop-helix proteins"""	27845	protein-coding gene	gene with protein product	"""spermatogenesis associated 27"""	610224	"""chromosome 9 open reading frame 157"""	C9orf157		12477932	Standard	NM_001012415		Approved	NOHLH, TEB2, bA100C15.3, bHLHe80, SPATA27	uc010nbe.3	Q5JUK2	OTTHUMG00000020915	ENST00000298466.5:c.410C>T	9.37:g.138589409G>A	ENSP00000298466:p.Ser137Leu					SOHLH1_ENST00000425225.1_Missense_Mutation_p.S137L	p.S137L	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)	4	470	-		Myeloproliferative disorder(178;0.0511)	137					C9JG81|Q5EE14|Q5EGC2|Q8NEE3	Missense_Mutation	SNP	ENST00000298466.5	37	c.410C>T	CCDS35174.1	.	.	.	.	.	.	.	.	.	.	G	15.17	2.755437	0.49362	0.0	2.33E-4	ENSG00000165643	ENST00000298466;ENST00000425225	T;T	0.33216	1.42;1.44	3.84	-0.592	0.11671	Helix-loop-helix DNA-binding (1);	1.167130	0.06994	N	0.822044	T	0.17365	0.0417	N	0.25647	0.755	0.09310	N	1	B;B	0.27971	0.196;0.124	B;B	0.16722	0.016;0.005	T	0.25572	-1.0128	10	0.48119	T	0.1	-10.3269	2.4972	0.04624	0.1139:0.3754:0.3385:0.1722	.	137;137	Q5JUK2-2;Q5JUK2	.;SOLH1_HUMAN	L	137	ENSP00000298466:S137L;ENSP00000404438:S137L	ENSP00000298466:S137L	S	-	2	0	SOHLH1	137729230	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-0.548000	0.06048	0.033000	0.15463	0.561000	0.74099	TCG		0.527	SOHLH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055018.2	NM_001012415		5	22	0	0	0	1	0	5	22				
DNMT3A	1788	broad.mit.edu	37	2	25470556	25470556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:25470556C>T	ENST00000264709.3	-	8	1255	c.918G>A	c.(916-918)tgG>tgA	p.W306*	DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W306*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W117*|DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W83*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	306	Interaction with DNMT1 and DNMT3B.|PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGGCCTGGCCACCAGGAGA	0.617			"""Mis, F, N, S"""		AML																																	ENST00000264709.3				Rec	yes		2	2p23	1788	"""Mis, F, N, S"""	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021						c.(916-918)tgG>tgA		DNA (cytosine-5-)-methyltransferase 3 alpha							71.0	75.0	74.0					2																	25470556		2203	4300	6503	SO:0001587	stop_gained	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25470556C>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.918G>A	2.37:g.25470556C>T	ENSP00000264709:p.Trp306*					DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W83*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W117*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W306*	p.W306*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN			8	1255	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		306			Interaction with DNMT1 and DNMT3B.|PWWP.		E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Nonsense_Mutation	SNP	ENST00000264709.3	37	c.918G>A	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	40	8.094610	0.98651	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.0978	16.948	0.86235	0.0:1.0:0.0:0.0	.	.	.	.	X	117;306;306;83	.	ENSP00000264709:W306X	W	-	3	0	DNMT3A	25324060	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.570000	0.82390	2.584000	0.87258	0.462000	0.41574	TGG		0.617	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		32	36	0	0	0	1	0	32	36				
MDH1B	130752	broad.mit.edu	37	2	207615788	207615788	+	Missense_Mutation	SNP	C	C	T	rs200965288		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:207615788C>T	ENST00000374412.3	-	6	1197	c.922G>A	c.(922-924)Gtg>Atg	p.V308M	MDH1B_ENST00000454776.2_Missense_Mutation_p.V308M|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000449792.1_Missense_Mutation_p.V210M	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	308					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CAAATGATCACGTCTTTAATG	0.323													C|||	1	0.000199681	0.0	0.0	5008	,	,		16379	0.0		0.001	False		,,,				2504	0.0				Pancreas(76;29 1355 28675 37177 51207)	ENST00000374412.3																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34						c.(922-924)Gtg>Atg		malate dehydrogenase 1B, NAD (soluble)		C	MET/VAL	0,4406		0,0,2203	111.0	111.0	111.0		922	6.0	1.0	2		111	4,8596	3.7+/-12.6	0,4,4296	yes	missense	MDH1B	NM_001039845.1	21	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	308/519	207615788	4,13002	2203	4300	6503	SO:0001583	missense	130752				carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity	g.chr2:207615788C>T		CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.922G>A	2.37:g.207615788C>T	ENSP00000363533:p.Val308Met					MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.V308M|MDH1B_ENST00000449792.1_Missense_Mutation_p.V210M	p.V308M	NM_001039845.1	NP_001034934.1	Q5I0G3	MDH1B_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)	6	1197	-			308					A8K8M1|Q53TK9|Q8IV51	Missense_Mutation	SNP	ENST00000374412.3	37	c.922G>A	CCDS33365.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	20.9	4.074190	0.76415	0.0	4.65E-4	ENSG00000138400	ENST00000374412;ENST00000449792;ENST00000454776	T;T;T	0.74209	-0.82;-0.82;-0.82	5.97	5.97	0.96955	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.86125	0.5858	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76575	0.98;0.988	D	0.85345	0.1098	10	0.45353	T	0.12	-32.4823	16.6585	0.85235	0.0:0.8705:0.1295:0.0	.	308;308	Q5I0G3-2;Q5I0G3	.;MDH1B_HUMAN	M	308;210;308	ENSP00000363533:V308M;ENSP00000416577:V210M;ENSP00000389916:V308M	ENSP00000363533:V308M	V	-	1	0	MDH1B	207324033	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	4.113000	0.57851	2.836000	0.97738	0.655000	0.94253	GTG		0.323	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256429.2	NM_001039845		17	34	0	0	0	1	0	17	34				
PDE8A	5151	broad.mit.edu	37	15	85669478	85669478	+	Missense_Mutation	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr15:85669478G>A	ENST00000310298.4	+	21	2378	c.2126G>A	c.(2125-2127)aGg>aAg	p.R709K	PDE8A_ENST00000557957.1_Missense_Mutation_p.R637K|PDE8A_ENST00000394553.1_Missense_Mutation_p.R709K|PDE8A_ENST00000339708.5_Missense_Mutation_p.R663K			O60658	PDE8A_HUMAN	phosphodiesterase 8A	709	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	ACTATGCTTAGGACTCCAGAG	0.468																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(2125-2127)aGg>aAg		phosphodiesterase 8A							98.0	92.0	94.0					15																	85669478		2203	4299	6502	SO:0001583	missense	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85669478G>A	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.2126G>A	15.37:g.85669478G>A	ENSP00000311453:p.Arg709Lys					PDE8A_ENST00000394553.1_Missense_Mutation_p.R709K|PDE8A_ENST00000557957.1_Missense_Mutation_p.R637K|PDE8A_ENST00000339708.5_Missense_Mutation_p.R663K	p.R709K			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		21	2378	+	Colorectal(223;0.227)		709			Catalytic (By similarity).		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.2126G>A	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	G	8.069	0.769741	0.15983	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.80994	-1.44;-1.44;-1.44	5.27	3.28	0.37604	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.206655	0.39341	N	0.001398	T	0.53594	0.1806	N	0.05031	-0.125	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.001;0.003	T	0.41502	-0.9505	10	0.05436	T	0.98	.	7.4728	0.27359	0.0935:0.2499:0.6566:0.0	.	663;709	O60658-2;O60658	.;PDE8A_HUMAN	K	709;709;663	ENSP00000311453:R709K;ENSP00000378056:R709K;ENSP00000340679:R663K	ENSP00000311453:R709K	R	+	2	0	PDE8A	83470482	0.604000	0.26932	0.043000	0.18650	0.932000	0.56968	1.008000	0.29872	1.433000	0.47394	0.644000	0.83932	AGG		0.468	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		10	51	0	0	0	1	0	10	51				
RANBP2	5903	broad.mit.edu	37	2	109365547	109365547	+	Missense_Mutation	SNP	G	G	A	rs544178123		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:109365547G>A	ENST00000283195.6	+	9	1361	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	412					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTGATGTACGAGAACCAGAG	0.373													g|||	1	0.000199681	0.0	0.0014	5008	,	,		18866	0.0		0.0	False		,,,				2504	0.0					ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(1234-1236)cGa>cAa		RAN binding protein 2							232.0	239.0	237.0					2																	109365547		2203	4300	6503	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109365547G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.1235G>A	2.37:g.109365547G>A	ENSP00000283195:p.Arg412Gln						p.R412Q	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			9	1361	+			412					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.1235G>A	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	G	0.495	-0.873356	0.02570	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	D	0.82526	-1.62	5.4	1.75	0.24633	.	.	.	.	.	T	0.48874	0.1524	N	0.00483	-1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46569	-0.9182	9	0.02654	T	1	-2.6924	8.5042	0.33177	0.7133:0.0:0.2867:0.0	.	412	P49792	RBP2_HUMAN	Q	412	ENSP00000283195:R412Q	ENSP00000283195:R412Q	R	+	2	0	RANBP2	108731979	0.056000	0.20664	0.009000	0.14445	0.675000	0.39556	1.192000	0.32150	0.111000	0.17947	-0.416000	0.06073	CGA		0.373	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		38	210	0	0	0	1	0	38	210				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		2	2	0	0	0	1	0	2	2				
ATXN1	6310	broad.mit.edu	37	6	16327921	16327921	+	Missense_Mutation	SNP	C	C	A	rs201030692		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr6:16327921C>A	ENST00000244769.4	-	8	1557	c.621G>T	c.(619-621)caG>caT	p.Q207H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q207H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	207	Poly-Gln.				adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)	p.Q207H(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgatgctgctgctgctgct	0.662																																						ENST00000244769.4																			2	Substitution - Missense(2)	p.Q207H(2)	lung(1)|prostate(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44						c.(619-621)caG>caT		ataxin 1							5.0	8.0	7.0					6																	16327921		1605	3502	5107	SO:0001583	missense	6310				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association	g.chr6:16327921C>A	X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.621G>T	6.37:g.16327921C>A	ENSP00000244769:p.Gln207His					ATXN1_ENST00000436367.1_Missense_Mutation_p.Q207H	p.Q207H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN			8	1557	-	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)	207			Poly-Gln.		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	ENST00000244769.4	37	c.621G>T	CCDS34342.1	.	.	.	.	.	.	.	.	.	.	c	0.699	-0.791581	0.02884	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.56275	0.47;0.47	0.0465	-0.093	0.13652	.	.	.	.	.	T	0.07908	0.0198	N	0.08118	0	0.09310	N	1	D	0.54964	0.969	B	0.38106	0.265	T	0.21042	-1.0257	8	0.35671	T	0.21	.	.	.	.	.	207	P54253	ATX1_HUMAN	H	207	ENSP00000244769:Q207H;ENSP00000416360:Q207H	ENSP00000244769:Q207H	Q	-	3	2	ATXN1	16435900	0.128000	0.22383	0.017000	0.16124	0.068000	0.16541	-0.076000	0.11412	-1.412000	0.02030	-1.404000	0.01136	CAG		0.662	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039943.3	NM_000332		5	11	1	0	0.000602214	1	0.000613577	5	11				
CLIP2	7461	broad.mit.edu	37	7	73768332	73768332	+	Silent	SNP	C	C	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr7:73768332C>A	ENST00000395060.1	+	3	801	c.801C>A	c.(799-801)acC>acA	p.T267T	CLIP2_ENST00000223398.6_Silent_p.T267T|CLIP2_ENST00000361545.5_Silent_p.T267T			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	267	CAP-Gly 2. {ECO:0000255|PROSITE- ProRule:PRU00045}.					cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGGCGGGCACCAGGTATGGTG	0.647																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(799-801)acC>acA		CAP-GLY domain containing linker protein 2							80.0	83.0	82.0					7																	73768332		2203	4300	6503	SO:0001819	synonymous_variant	7461					microtubule associated complex		g.chr7:73768332C>A	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.801C>A	7.37:g.73768332C>A						CLIP2_ENST00000395060.1_Silent_p.T267T|CLIP2_ENST00000361545.5_Silent_p.T267T	p.T267T	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			4	1128	+			267			CAP-Gly 2.		O14527|O43611	Silent	SNP	ENST00000395060.1	37	c.801C>A	CCDS5569.1																																																																																				0.647	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		47	63	1	0	3.21987e-24	1	3.54843e-24	47	63				
CPNE9	151835	broad.mit.edu	37	3	9768379	9768379	+	Missense_Mutation	SNP	G	G	A	rs566993609		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr3:9768379G>A	ENST00000383832.3	+	19	1565	c.1375G>A	c.(1375-1377)Gtc>Atc	p.V459I	CPNE9_ENST00000383831.3_Missense_Mutation_p.V459I	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	459	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.V459I(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TATCATTATCGTCGGTGTAGG	0.547																																						ENST00000383832.3																			2	Substitution - Missense(2)	p.V459I(2)	ovary(1)|prostate(1)	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16						c.(1375-1377)Gtc>Atc		copine family member IX							122.0	117.0	119.0					3																	9768379		1927	4145	6072	SO:0001583	missense	151835							g.chr3:9768379G>A		CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.1375G>A	3.37:g.9768379G>A	ENSP00000373343:p.Val459Ile					CPNE9_ENST00000383831.3_Missense_Mutation_p.V459I	p.V459I	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN			19	1565	+	Medulloblastoma(99;0.227)		459			VWFA.		A1L430|A6NDX6|A8MSP8	Missense_Mutation	SNP	ENST00000383832.3	37	c.1375G>A	CCDS2574.2	.	.	.	.	.	.	.	.	.	.	G	19.70	3.876822	0.72180	.	.	ENSG00000144550	ENST00000383832;ENST00000383831	T;T	0.22945	1.93;1.93	4.4	4.4	0.53042	von Willebrand factor, type A (2);Copine (1);	0.064498	0.64402	D	0.000011	T	0.37489	0.1005	M	0.62723	1.935	0.53688	D	0.999976	P	0.43857	0.819	P	0.48304	0.573	T	0.21759	-1.0236	10	0.45353	T	0.12	.	16.7977	0.85606	0.0:0.0:1.0:0.0	.	459	Q8IYJ1	CPNE9_HUMAN	I	459	ENSP00000373343:V459I;ENSP00000373342:V459I	ENSP00000373342:V459I	V	+	1	0	CPNE9	9743379	1.000000	0.71417	0.962000	0.40283	0.964000	0.63967	6.831000	0.75324	2.257000	0.74773	0.460000	0.39030	GTC		0.547	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250205.4	NM_001033755		23	54	0	0	0	1	0	23	54				
PKD1L2	114780	broad.mit.edu	37	16	81236151	81236151	+	RNA	SNP	A	A	G			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr16:81236151A>G	ENST00000525539.1	-	0	1096				PKD1L2_ENST00000337114.4_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATCCCCAAAGACAGCCTGGCA	0.557																																						ENST00000599697.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						c.(1096-1098)gTc>gCc		polycystic kidney disease 1-like 2							59.0	65.0	63.0					16																	81236151		2044	4204	6248			114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81236151A>G	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81236151A>G						PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000337114.4_RNA	p.V366A			Q7Z442	PK1L2_HUMAN			6	1096	-			366					Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000525539.1	37	c.1097T>C		.	.	.	.	.	.	.	.	.	.	A	11.69	1.714080	0.30413	.	.	ENSG00000166473	ENST00000337114	D	0.87029	-2.2	4.74	1.23	0.21249	.	0.346348	0.26404	N	0.024577	T	0.77061	0.4075	.	.	.	0.09310	N	0.999991	B;B	0.14438	0.01;0.003	B;B	0.11329	0.006;0.004	T	0.64123	-0.6481	9	0.48119	T	0.1	-20.1147	4.3688	0.11237	0.6408:0.0:0.2248:0.1344	.	366;366	Q7Z442-3;Q7Z442	.;PK1L2_HUMAN	A	366	ENSP00000337397:V366A	ENSP00000337397:V366A	V	-	2	0	PKD1L2	79793652	0.986000	0.35501	0.627000	0.29227	0.727000	0.41649	2.567000	0.45956	-0.001000	0.14495	-0.263000	0.10527	GTC		0.557	PKD1L2-001	KNOWN	non_canonical_polymorphism|basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000387972.2			21	30	0	0	0	1	0	21	30				
PRNT	149830	broad.mit.edu	37	20	4713258	4713258	+	Missense_Mutation	SNP	T	T	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr20:4713258T>A	ENST00000326539.2	-	2	1002	c.65A>T	c.(64-66)gAt>gTt	p.D22V	PRNT_ENST00000418528.1_Missense_Mutation_p.D22V|PRNT_ENST00000423718.2_Missense_Mutation_p.D22V			Q86SH4	PRNT_HUMAN	prion protein (testis specific)	22						extracellular region (GO:0005576)				endometrium(2)|lung(5)	7						gatggaggcatccaggtggag	0.463																																						ENST00000326539.2																			0				endometrium(2)|lung(5)	7						c.(64-66)gAt>gTt									151.0	136.0	141.0					20																	4713258		2203	4300	6503	SO:0001583	missense	0							g.chr20:4713258T>A	AL137296, AJ427539		20p13	2013-04-02			ENSG00000180259	ENSG00000180259			18046	other	unknown	"""M8 protein"""					12514748	Standard	NR_024267		Approved	M8	uc010zqq.2	Q86SH4	OTTHUMG00000031785	ENST00000326539.2:c.65A>T	20.37:g.4713258T>A	ENSP00000321242:p.Asp22Val					PRNT_ENST00000418528.1_Missense_Mutation_p.D22V|PRNT_ENST00000423718.2_Missense_Mutation_p.D22V	p.D22V							2	1002	-								B2RPD9|B7ZBI9	Missense_Mutation	SNP	ENST00000326539.2	37	c.65A>T		.	.	.	.	.	.	.	.	.	.	T	5.768	0.326011	0.10900	.	.	ENSG00000180259	ENST00000418528;ENST00000326539;ENST00000423718	T;T;T	0.57273	0.41;0.41;0.41	1.92	-0.608	0.11611	.	.	.	.	.	T	0.43122	0.1233	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.44952	-0.9294	6	0.87932	D	0	.	2.151	0.03799	0.0:0.2775:0.3289:0.3936	.	.	.	.	V	22	ENSP00000409280:D22V;ENSP00000321242:D22V;ENSP00000404306:D22V	ENSP00000321242:D22V	D	-	2	0	PRNT	4661258	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.095000	0.11077	-0.140000	0.11394	-0.609000	0.04063	GAT		0.463	PRNT-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000253006.2	NM_177549		7	6	0	0	0	1	0	7	6				
SLC16A11	162515	broad.mit.edu	37	17	6945197	6945197	+	Missense_Mutation	SNP	G	G	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:6945197G>T	ENST00000308009.1	-	4	1554	c.1217C>A	c.(1216-1218)aCc>aAc	p.T406N	SLC16A11_ENST00000447225.1_Missense_Mutation_p.T374N	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	406					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						GAAAGAGGCGGTGAAGTCTCC	0.572																																						ENST00000308009.1																			0				endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						c.(1216-1218)aCc>aAc		solute carrier family 16, member 11							37.0	49.0	45.0					17																	6945197		2195	4291	6486	SO:0001583	missense	162515					integral to membrane|plasma membrane	symporter activity	g.chr17:6945197G>T	AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"""Solute carriers"""	23093	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 11"""	615765	"""solute carrier family 16 (monocarboxylic acid transporters), member 11"""				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.1217C>A	17.37:g.6945197G>T	ENSP00000310490:p.Thr406Asn					SLC16A11_ENST00000447225.1_Missense_Mutation_p.T374N	p.T406N	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN			4	1554	-			406						Missense_Mutation	SNP	ENST00000308009.1	37	c.1217C>A	CCDS11086.1	.	.	.	.	.	.	.	.	.	.	G	6.358	0.434123	0.12045	.	.	ENSG00000174326	ENST00000308009;ENST00000447225	T;T	0.13196	2.61;2.61	4.99	-2.17	0.07059	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.788010	0.11703	N	0.537743	T	0.10937	0.0267	L	0.51914	1.62	0.09310	N	0.999993	B	0.20671	0.047	B	0.19391	0.025	T	0.39375	-0.9617	10	0.19147	T	0.46	.	8.3971	0.32564	0.0:0.4856:0.2344:0.28	.	406	Q8NCK7	MOT11_HUMAN	N	406;374	ENSP00000310490:T406N;ENSP00000394449:T374N	ENSP00000310490:T406N	T	-	2	0	SLC16A11	6885921	0.083000	0.21467	0.090000	0.20809	0.601000	0.36947	0.187000	0.16998	-0.079000	0.12707	0.557000	0.71058	ACC		0.572	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219921.1	NM_153357		6	13	1	0	0.0215528	1	0.0215528	6	13				
MSLN	10232	broad.mit.edu	37	16	812765	812765	+	Splice_Site	SNP	G	G	A	rs372994754		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr16:812765G>A	ENST00000382862.3	+	2	180	c.85G>A	c.(85-87)Gga>Aga	p.G29R	MSLN_ENST00000563941.1_Splice_Site_p.G29R|MSLN_ENST00000566549.1_Splice_Site_p.G29R|MSLN_ENST00000545450.2_Splice_Site_p.G29R	NM_013404.4	NP_037536.2	Q13421	MSLN_HUMAN	mesothelin	29					cell adhesion (GO:0007155)|pancreas development (GO:0031016)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CTTCAGCCTCGGTGCGTACTT	0.682																																						ENST00000566549.1																			0				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20						c.e2+1		mesothelin		G	ARG/GLY,ARG/GLY,ARG/GLY	1,4399	2.1+/-5.4	0,1,2199	62.0	65.0	64.0		85,85,85	1.9	0.4	16		64	0,8598		0,0,4299	no	missense-near-splice,missense-near-splice,missense-near-splice	MSLN	NM_001177355.1,NM_005823.5,NM_013404.4	125,125,125	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	29/623,29/623,29/631	812765	1,12997	2200	4299	6499	SO:0001630	splice_region_variant	10232				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane		g.chr16:812765G>A	U40434	CCDS32356.1, CCDS45370.1	16p13.3	2008-04-16			ENSG00000102854	ENSG00000102854			7371	protein-coding gene	gene with protein product		601051				7665620, 8552591	Standard	NM_005823		Approved	CAK1, MPF	uc002cjw.2	Q13421	OTTHUMG00000047992	ENST00000382862.3:c.85+1G>A	16.37:g.812765G>A						MSLN_ENST00000563941.1_Splice_Site_p.G29_splice|MSLN_ENST00000382862.3_Splice_Site_p.G29_splice|MSLN_ENST00000545450.2_Splice_Site_p.G29_splice	p.G29_splice			Q13421	MSLN_HUMAN			2	502	+		Hepatocellular(780;0.00335)	29					D3DU65|Q14859|Q4VQD5|Q96GR6|Q96KJ5|Q9BR17|Q9BTR2|Q9UCB2|Q9UK57	Splice_Site	SNP	ENST00000382862.3	37	c.85_splice	CCDS32356.1	.	.	.	.	.	.	.	.	.	.	G	14.90	2.673912	0.47781	2.27E-4	0.0	ENSG00000102854	ENST00000446427;ENST00000445361;ENST00000545450;ENST00000382862	T;T	0.23348	1.91;1.91	2.94	1.87	0.25490	.	0.768823	0.09827	U	0.750767	T	0.19406	0.0466	L	0.51422	1.61	0.39656	D	0.970544	P;P;P;P	0.37398	0.538;0.593;0.538;0.538	B;B;B;B	0.29353	0.061;0.101;0.061;0.061	T	0.15925	-1.0420	10	0.72032	D	0.01	.	5.1173	0.14840	0.195:0.0:0.805:0.0	.	29;29;29;29	Q13421-4;Q13421;Q13421-2;Q13421-3	.;MSLN_HUMAN;.;.	R	29	ENSP00000442965:G29R;ENSP00000372313:G29R	ENSP00000372313:G29R	G	+	1	0	MSLN	752766	0.366000	0.25014	0.380000	0.26093	0.012000	0.07955	0.341000	0.19909	0.693000	0.31634	0.561000	0.74099	GGA		0.682	MSLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000109253.2		Missense_Mutation	36	49	0	0	0	1	0	36	49				
SMPDL3B	27293	broad.mit.edu	37	1	28285340	28285340	+	Silent	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr1:28285340C>T	ENST00000373894.3	+	8	1550	c.1359C>T	c.(1357-1359)ctC>ctT	p.L453L	XKR8_ENST00000373884.5_5'Flank|SMPDL3B_ENST00000549094.1_Silent_p.L405L|RP11-460I13.2_ENST00000448015.1_RNA	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	453				LVL -> TRAVTCQAHHSSW (in Ref. 1; CAA69328). {ECO:0000305}.	sphingomyelin catabolic process (GO:0006685)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		TGTGCACGCTCGTGCTGTGAC	0.652																																						ENST00000373894.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16						c.(1357-1359)ctC>ctT		sphingomyelin phosphodiesterase, acid-like 3B							20.0	18.0	18.0					1																	28285340		2200	4294	6494	SO:0001819	synonymous_variant	27293				sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr1:28285340C>T	Y08134	CCDS30655.1, CCDS30656.1	1p35.3	2008-02-05			ENSG00000130768	ENSG00000130768			21416	protein-coding gene	gene with protein product							Standard	NM_014474		Approved	ASML3B	uc001bpg.3	Q92485	OTTHUMG00000003910	ENST00000373894.3:c.1359C>T	1.37:g.28285340C>T						RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Silent_p.L405L	p.L453L	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)	8	1550	+		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)	453	LVL -> TRAVTCQAHHSSW (in Ref. 1; CAA69328).				B7ZB35|Q5T0Z0|Q96CB7	Silent	SNP	ENST00000373894.3	37	c.1359C>T	CCDS30655.1																																																																																				0.652	SMPDL3B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011170.1	NM_014474		5	11	0	0	0	1	0	5	11				
MICA	100507436	broad.mit.edu	37	6	31379100	31379100	+	Nonsense_Mutation	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr6:31379100C>T	ENST00000449934.2	+	3	631	c.577C>T	c.(577-579)Cga>Tga	p.R193*	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GGAACTACGGCGATATCTAGA	0.542																																						ENST00000449934.2																			0				breast(1)|endometrium(3)|kidney(1)	5						c.(577-579)Cga>Tga		MHC class I polypeptide-related sequence A							110.0	96.0	100.0					6																	31379100		692	1591	2283	SO:0001587	stop_gained	100507436				antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding	g.chr6:31379100C>T	L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"""Immunoglobulin superfamily / C1-set domain containing"""	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.577C>T	6.37:g.31379100C>T	ENSP00000413079:p.Arg193*					HCP5_ENST00000414046.2_RNA	p.R193*	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN			3	631	+		Ovarian(999;0.0253)	193						Nonsense_Mutation	SNP	ENST00000449934.2	37	c.577C>T	CCDS56412.1	.	.	.	.	.	.	.	.	.	.	N	43	9.941713	0.99300	.	.	ENSG00000204520	ENST00000376222;ENST00000364810;ENST00000399172;ENST00000449934	.	.	.	1.31	0.0144	0.14100	.	6.058300	0.00695	N	0.000746	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.5056	0.11885	0.511:0.489:0.0:0.0	.	.	.	.	X	55;193;150;193	.	ENSP00000365394:R193X	R	+	1	2	MICA	31487079	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.081000	0.01367	0.004000	0.14682	0.306000	0.20318	CGA		0.542	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076101.7	NM_001177519		3	7	0	0	0	1	0	3	7				
FADS6	283985	broad.mit.edu	37	17	72875555	72875555	+	Silent	SNP	G	G	C			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:72875555G>C	ENST00000310226.6	-	5	899	c.885C>G	c.(883-885)ctC>ctG	p.L295L		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	301					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TGTTATCAGAGAGCCTGGGGA	0.602																																						ENST00000310226.6																			0				endometrium(3)|kidney(1)|lung(4)	8						c.(883-885)ctC>ctG		fatty acid desaturase 6							56.0	58.0	57.0					17																	72875555		1975	4152	6127	SO:0001819	synonymous_variant	283985				fatty acid biosynthetic process	integral to membrane	oxidoreductase activity	g.chr17:72875555G>C	AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"""Fatty acid desaturases"""	30459	protein-coding gene	gene with protein product			"""fatty acid desaturase domain family, member 6"""				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.885C>G	17.37:g.72875555G>C							p.L295L	NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN			5	899	-	all_lung(278;0.172)|Lung NSC(278;0.207)		301					Q17RQ7|Q6XYE1	Silent	SNP	ENST00000310226.6	37	c.885C>G	CCDS54163.1																																																																																				0.602	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1			6	35	0	0	0	1	0	6	35				
VWF	7450	broad.mit.edu	37	12	6128535	6128535	+	Missense_Mutation	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr12:6128535G>A	ENST00000261405.5	-	28	4303	c.4049C>T	c.(4048-4050)gCg>gTg	p.A1350V		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1350	VWFA 1; binding site for platelet glycoprotein Ib. {ECO:0000255|PROSITE- ProRule:PRU00219}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTGGCTGCCCGCATACTTCAC	0.622																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(4048-4050)gCg>gTg		von Willebrand factor	Antihemophilic Factor(DB00025)						53.0	49.0	50.0					12																	6128535		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6128535G>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.4049C>T	12.37:g.6128535G>A	ENSP00000261405:p.Ala1350Val						p.A1350V	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			28	4303	-			1350			VWFA 1; binding site for platelet glycoprotein Ib.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.4049C>T	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	.	13.08	2.130196	0.37630	.	.	ENSG00000110799	ENST00000261405	D	0.83250	-1.7	4.98	2.92	0.33932	von Willebrand factor, type A (3);	0.748356	0.11455	N	0.562407	T	0.70456	0.3226	L	0.27975	0.815	0.80722	D	1	B	0.25486	0.127	B	0.17722	0.019	T	0.57335	-0.7829	10	0.22706	T	0.39	.	8.7741	0.34751	0.2319:0.0:0.7681:0.0	.	1350	P04275	VWF_HUMAN	V	1350	ENSP00000261405:A1350V	ENSP00000261405:A1350V	A	-	2	0	VWF	5998796	0.257000	0.24022	0.909000	0.35828	0.911000	0.54048	1.076000	0.30729	0.508000	0.28173	0.555000	0.69702	GCG		0.622	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		3	42	0	0	0	1	0	3	42				
MEGF8	1954	broad.mit.edu	37	19	42873083	42873083	+	Silent	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr19:42873083C>T	ENST00000251268.6	+	37	6570	c.6570C>T	c.(6568-6570)aaC>aaT	p.N2190N	MEGF8_ENST00000378073.4_5'Flank|MEGF8_ENST00000334370.4_Silent_p.N2123N	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2190	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACGACTGCAACGAGACGCAGA	0.672																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(6367-6369)aaC>aaT		multiple EGF-like-domains 8							83.0	86.0	85.0					19																	42873083		2203	4300	6503	SO:0001819	synonymous_variant	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42873083C>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.6570C>T	19.37:g.42873083C>T						MEGF8_ENST00000251268.6_Silent_p.N2190N	p.N2123N	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			36	7004	+		Prostate(69;0.00682)	2190			PSI 7.		A8KAY0|O75097	Silent	SNP	ENST00000251268.6	37	c.6369C>T																																																																																					0.672	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		26	45	0	0	0	1	0	26	45				
ZNF808	388558	broad.mit.edu	37	19	53057655	53057655	+	Missense_Mutation	SNP	T	T	C			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr19:53057655T>C	ENST00000359798.4	+	5	1666	c.1486T>C	c.(1486-1488)Tca>Cca	p.S496P		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	496					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CAGCCGCAGGTCATCCCTTCT	0.458																																						ENST00000359798.4																			0				endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24						c.(1486-1488)Tca>Cca		zinc finger protein 808							97.0	103.0	101.0					19																	53057655		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53057655T>C	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.1486T>C	19.37:g.53057655T>C	ENSP00000352846:p.Ser496Pro						p.S496P	NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	1666	+			496					Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.1486T>C	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	10.76	1.442459	0.25987	.	.	ENSG00000198482	ENST00000359798	T	0.08102	3.13	1.5	1.5	0.22942	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.21186	0.0510	M	0.75150	2.29	0.09310	N	1	D	0.76494	0.999	D	0.72982	0.979	T	0.11131	-1.0600	9	0.62326	D	0.03	.	2.3699	0.04328	0.0:0.1979:0.3046:0.4975	.	496	Q8N4W9	ZN808_HUMAN	P	496	ENSP00000352846:S496P	ENSP00000352846:S496P	S	+	1	0	ZNF808	57749467	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.158000	0.16422	0.666000	0.31087	0.164000	0.16699	TCA		0.458	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		42	72	0	0	0	1	0	42	72				
PRPF8	10594	broad.mit.edu	37	17	1578513	1578513	+	Missense_Mutation	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:1578513C>T	ENST00000572621.1	-	19	3258	c.2993G>A	c.(2992-2994)cGc>cAc	p.R998H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R998H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	998	Reverse transcriptase homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.R998P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CACGATGAGGCGCAGCAGCCT	0.512																																						ENST00000572621.1																			1	Substitution - Missense(1)	p.R998P(1)	ovary(1)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77						c.(2992-2994)cGc>cAc		pre-mRNA processing factor 8							210.0	144.0	166.0					17																	1578513		2203	4300	6503	SO:0001583	missense	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1578513C>T	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.2993G>A	17.37:g.1578513C>T	ENSP00000460348:p.Arg998His					PRPF8_ENST00000304992.6_Missense_Mutation_p.R998H	p.R998H			Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	19	3258	-			998					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.2993G>A	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	C	35	5.531594	0.96446	.	.	ENSG00000174231	ENST00000304992	D	0.82344	-1.6	5.89	5.89	0.94794	RNA recognition motif, spliceosomal PrP8 (1);	0.000000	0.85682	D	0.000000	D	0.94169	0.8129	M	0.94142	3.5	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94914	0.8067	10	0.87932	D	0	.	20.2562	0.98421	0.0:1.0:0.0:0.0	.	998	Q6P2Q9	PRP8_HUMAN	H	998	ENSP00000304350:R998H	ENSP00000304350:R998H	R	-	2	0	PRPF8	1525263	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	7.818000	0.86416	2.797000	0.96272	0.563000	0.77884	CGC		0.512	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			27	47	0	0	0	1	0	27	47				
UNC45B	146862	broad.mit.edu	37	17	33495212	33495212	+	Silent	SNP	A	A	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:33495212A>T	ENST00000268876.5	+	10	1381	c.1284A>T	c.(1282-1284)gcA>gcT	p.A428A	UNC45B_ENST00000378449.1_Silent_p.A428A|UNC45B_ENST00000394570.2_Silent_p.A428A|UNC45B_ENST00000591048.1_Silent_p.A428A|RP11-799D4.3_ENST00000585646.1_RNA|UNC45B_ENST00000433649.1_Silent_p.A428A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	428					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGATGGTGGCACTATGTGGCT	0.597																																						ENST00000268876.5																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(1282-1284)gcA>gcT		unc-45 homolog B (C. elegans)							125.0	92.0	103.0					17																	33495212		2203	4300	6503	SO:0001819	synonymous_variant	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33495212A>T	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.1284A>T	17.37:g.33495212A>T						UNC45B_ENST00000433649.1_Silent_p.A428A|UNC45B_ENST00000378449.1_Silent_p.A428A|UNC45B_ENST00000394570.2_Silent_p.A428A|UNC45B_ENST00000591048.1_Silent_p.A428A	p.A428A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			10	1381	+		Ovarian(249;0.17)	428					Q495Q8|Q495Q9	Silent	SNP	ENST00000268876.5	37	c.1284A>T	CCDS11292.1																																																																																				0.597	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		23	31	0	0	0	1	0	23	31				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			27	44	0	0	0	1	0	27	44				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	9	0	0	0	1	0	10	9				
FAM35A	54537	broad.mit.edu	37	10	88950272	88950272	+	Silent	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr10:88950272C>T	ENST00000298784.1	+	9	2454	c.2340C>T	c.(2338-2340)gtC>gtT	p.V780V	FAM35A_ENST00000298786.4_Silent_p.V849V	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	780										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						ATGGGATGGTCGTGGCAGACC	0.463																																					Ovarian(175;703 2004 25460 32514 43441)	ENST00000298786.4																			0				endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						c.(2545-2547)gtC>gtT		family with sequence similarity 35, member A							165.0	156.0	159.0					10																	88950272		2203	4300	6503	SO:0001819	synonymous_variant	54537							g.chr10:88950272C>T	BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.2340C>T	10.37:g.88950272C>T						FAM35A_ENST00000298784.1_Silent_p.V780V	p.V849V			Q86V20	FA35A_HUMAN			10	2661	+			780					O95885|Q9H991	Silent	SNP	ENST00000298784.1	37	c.2547C>T	CCDS7383.1	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433515	0.25813	.	.	ENSG00000122376	ENST00000342900	.	.	.	2.61	-5.23	0.02798	.	.	.	.	.	T	0.37237	0.0996	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35773	-0.9775	4	.	.	.	-0.1273	1.7475	0.02965	0.1531:0.1495:0.4001:0.2974	.	.	.	.	C	504	.	.	R	+	1	0	FAM35A	88940252	0.001000	0.12720	0.091000	0.20842	0.706000	0.40770	-2.216000	0.01221	-1.201000	0.02659	0.194000	0.17425	CGT		0.463	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049196.2	NM_019054		28	75	0	0	0	1	0	28	75				
CELF3	11189	broad.mit.edu	37	1	151678361	151678361	+	Missense_Mutation	SNP	A	A	G			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr1:151678361A>G	ENST00000290583.4	-	11	2000	c.1207T>C	c.(1207-1209)Ttt>Ctt	p.F403L	CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Missense_Mutation_p.F353L|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000392706.3_Missense_Mutation_p.F198L	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	403	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						ACGTGGCCAAAGGGGACAAAC	0.493																																						ENST00000290583.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						c.(1207-1209)Ttt>Ctt		CUGBP, Elav-like family member 3							108.0	104.0	106.0					1																	151678361		2203	4300	6503	SO:0001583	missense	11189				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	g.chr1:151678361A>G	U80759	CCDS1002.1, CCDS53367.1	1q21	2013-02-12	2010-02-19	2010-02-19	ENSG00000159409	ENSG00000159409		"""Trinucleotide (CAG) repeat containing"", ""RNA binding motif (RRM) containing"""	11967	protein-coding gene	gene with protein product	"""expanded repeat domain, CAG/CTG 4"", ""CAG repeat domain"", ""CUG-BP and ETR-3 like factor 3"""	612678	"""trinucleotide repeat containing 4"""	TNRC4		9225980	Standard	XM_005244859		Approved	CAGH4, BRUNOL1, ERDA4, MGC57297	uc001eys.2	Q5SZQ8	OTTHUMG00000013064	ENST00000290583.4:c.1207T>C	1.37:g.151678361A>G	ENSP00000290583:p.Phe403Leu					CELF3_ENST00000392706.3_Missense_Mutation_p.F198L|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000290585.4_Missense_Mutation_p.F353L|RP11-98D18.1_ENST00000457548.1_RNA	p.F403L	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN			11	2000	-			403			RRM 3.		B7ZKK6|O15414|Q499Y6|Q5SZQ7|Q6NVK0|Q8IZ98|Q9BZC2|Q9HB30	Missense_Mutation	SNP	ENST00000290583.4	37	c.1207T>C	CCDS1002.1	.	.	.	.	.	.	.	.	.	.	.	33	5.207922	0.95033	.	.	ENSG00000159409	ENST00000290585;ENST00000290583;ENST00000392706	T;T;T	0.42513	2.04;2.04;0.97	5.0	5.0	0.66597	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.60196	0.2250	M	0.86268	2.805	0.80722	D	1	D;D;D;D;D	0.89917	0.987;0.989;1.0;0.994;0.999	D;D;D;D;D	0.91635	0.962;0.945;0.999;0.991;0.994	T	0.68153	-0.5484	10	0.87932	D	0	-15.4485	12.7081	0.57073	1.0:0.0:0.0:0.0	.	198;353;402;403;402	B4DQL3;Q5SZQ7;Q5SZQ8-2;Q5SZQ8;Q5SZQ8-3	.;.;.;CELF3_HUMAN;.	L	353;403;198	ENSP00000290585:F353L;ENSP00000290583:F403L;ENSP00000376470:F198L	ENSP00000290583:F403L	F	-	1	0	CELF3	149944985	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.130000	0.94437	2.101000	0.63845	0.368000	0.22195	TTT		0.493	CELF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036663.2	NM_007185		3	72	0	0	0	1	0	3	72				
TRIM38	10475	broad.mit.edu	37	6	25967064	25967064	+	Missense_Mutation	SNP	A	A	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr6:25967064A>T	ENST00000357085.3	+	3	790	c.314A>T	c.(313-315)gAa>gTa	p.E105V	TRIM38_ENST00000349458.3_Missense_Mutation_p.E105V	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	105					negative regulation of defense response to virus (GO:0050687)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of viral entry into host cell (GO:0046598)|positive regulation of viral genome replication (GO:0045070)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|regulation of interferon-beta production (GO:0032648)|signal transduction (GO:0007165)	intracellular (GO:0005622)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CTGTTCTGCGAAGACGAGGGG	0.562																																						ENST00000357085.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						c.(313-315)gAa>gTa		tripartite motif containing 38							62.0	59.0	60.0					6																	25967064		2203	4300	6503	SO:0001583	missense	10475				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding	g.chr6:25967064A>T	U90547	CCDS4568.1	6p21.3	2011-04-20	2011-01-25	2002-06-07	ENSG00000112343	ENSG00000112343		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10059	protein-coding gene	gene with protein product			"""ring finger protein 15"", ""tripartite motif-containing 38"""	RNF15			Standard	XR_241880		Approved	RORET	uc003nfm.4	O00635	OTTHUMG00000014414	ENST00000357085.3:c.314A>T	6.37:g.25967064A>T	ENSP00000349596:p.Glu105Val					TRIM38_ENST00000349458.3_Missense_Mutation_p.E105V	p.E105V	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN			3	790	+			105					B2R862	Missense_Mutation	SNP	ENST00000357085.3	37	c.314A>T	CCDS4568.1	.	.	.	.	.	.	.	.	.	.	a	17.51	3.407649	0.62399	.	.	ENSG00000112343	ENST00000540262;ENST00000349458;ENST00000357085	T;T;T	0.46063	0.88;0.88;0.88	4.37	3.17	0.36434	Zinc finger, B-box (3);	0.000000	0.41712	D	0.000834	T	0.46580	0.1400	M	0.73319	2.225	0.33366	D	0.572932	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.52117	-0.8618	10	0.72032	D	0.01	.	6.998	0.24793	0.8961:0.0:0.1039:0.0	.	105;105	B2R862;O00635	.;TRI38_HUMAN	V	105	ENSP00000443976:E105V;ENSP00000230099:E105V;ENSP00000349596:E105V	ENSP00000230099:E105V	E	+	2	0	TRIM38	26075043	0.963000	0.33076	0.580000	0.28601	0.734000	0.41952	4.390000	0.59646	0.963000	0.38082	0.477000	0.44152	GAA		0.562	TRIM38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040076.2			18	21	0	0	0	1	0	18	21				
ARFGEF1	10565	broad.mit.edu	37	8	68139489	68139489	+	Missense_Mutation	SNP	G	G	C			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr8:68139489G>C	ENST00000262215.3	-	27	4188	c.3799C>G	c.(3799-3801)Caa>Gaa	p.Q1267E	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.Q105E|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.Q721E	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1267					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTAGCAGCTTGAGAATTAACC	0.363																																						ENST00000262215.3																			0				breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65						c.(3799-3801)Caa>Gaa		ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)							143.0	142.0	142.0					8																	68139489		2203	4300	6503	SO:0001583	missense	10565				exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding	g.chr8:68139489G>C	AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.3799C>G	8.37:g.68139489G>C	ENSP00000262215:p.Gln1267Glu					ARFGEF1_ENST00000518230.1_Missense_Mutation_p.Q105E|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.Q721E	p.Q1267E	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)		27	4188	-	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	1267					Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	ENST00000262215.3	37	c.3799C>G	CCDS6199.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961446	0.92791	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230;ENST00000517631	T;T;T	0.65178	-0.14;-0.08;-0.1	5.56	5.56	0.83823	Domain of unknown function DUF1981, SEC7 associated (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81997	0.4941	M	0.85373	2.75	0.80722	D	1	D;P;P	0.69078	0.997;0.949;0.949	D;P;P	0.71414	0.973;0.78;0.78	D	0.84363	0.0539	10	0.72032	D	0.01	.	19.5224	0.95190	0.0:0.0:1.0:0.0	.	1267;745;721	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	E	721;1267;105;116	ENSP00000428429:Q721E;ENSP00000262215:Q1267E;ENSP00000430891:Q105E	ENSP00000262215:Q1267E	Q	-	1	0	ARFGEF1	68302043	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.611000	0.88343	0.585000	0.79938	CAA		0.363	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379441.4	NM_006421		35	63	0	0	0	1	0	35	63				
ACTL10	170487	broad.mit.edu	37	20	32255602	32255602	+	Missense_Mutation	SNP	G	G	C			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr20:32255602G>C	ENST00000330271.4	+	1	1299	c.299G>C	c.(298-300)cGc>cCc	p.R100P	NECAB3_ENST00000246190.6_Intron|NECAB3_ENST00000375238.4_Intron	NM_001024675.1	NP_001019846.1	Q5JWF8	ACL10_HUMAN	actin-like 10	100																	GACCCCGCCCGCCACCATCCG	0.672																																						ENST00000330271.4																			0											c.(298-300)cGc>cCc		actin-like 10							20.0	21.0	21.0					20																	32255602		2182	4258	6440	SO:0001583	missense	170487							g.chr20:32255602G>C	AL121906	CCDS33463.1	20q11.22	2011-11-24	2011-11-24	2011-11-24	ENSG00000182584	ENSG00000182584			16127	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 134"""	C20orf134			Standard	NM_001024675		Approved		uc002wzt.3	Q5JWF8	OTTHUMG00000032262	ENST00000330271.4:c.299G>C	20.37:g.32255602G>C	ENSP00000329647:p.Arg100Pro					NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron	p.R100P	NM_001024675.1	NP_001019846.1	Q5JWF8	CT134_HUMAN			1	1299	+			100					B9EH76	Missense_Mutation	SNP	ENST00000330271.4	37	c.299G>C	CCDS33463.1	.	.	.	.	.	.	.	.	.	.	G	11.73	1.726088	0.30593	.	.	ENSG00000182584	ENST00000330271	T	0.06768	3.26	5.42	4.44	0.53790	.	0.160911	0.29892	N	0.010930	T	0.07863	0.0197	L	0.37561	1.115	0.35703	D	0.815781	B	0.13594	0.008	B	0.16289	0.015	T	0.07177	-1.0786	10	0.87932	D	0	-17.9062	9.7387	0.40404	0.0:0.2529:0.6084:0.1387	.	100	Q5JWF8	CT134_HUMAN	P	100	ENSP00000329647:R100P	ENSP00000329647:R100P	R	+	2	0	C20orf134	31719263	0.663000	0.27448	0.999000	0.59377	0.396000	0.30629	1.707000	0.37888	2.547000	0.85894	0.561000	0.74099	CGC		0.672	ACTL10-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078713.1			8	11	0	0	0	1	0	8	11				
FRG2B	441581	broad.mit.edu	37	10	135440109	135440109	+	Silent	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr10:135440109G>A	ENST00000425520.1	-	1	190	c.138C>T	c.(136-138)acC>acT	p.T46T	FRG2B_ENST00000443774.1_Silent_p.T46T	NM_001080998.1	NP_001074467.1	Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	46						nucleus (GO:0005634)				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGGAGAAGGCGGTCTTGCCTT	0.507																																						ENST00000443774.1																			0				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20						c.(136-138)acC>acT		FSHD region gene 2 family, member B							21.0	24.0	23.0					10																	135440109		2137	4240	6377	SO:0001819	synonymous_variant	441581					nucleus		g.chr10:135440109G>A	AY744466	CCDS44502.1	10q26.3	2012-10-02			ENSG00000225899	ENSG00000225899			33518	protein-coding gene	gene with protein product						15520407	Standard	NM_001080998		Approved		uc010qvg.2	Q96QU4	OTTHUMG00000019328	ENST00000425520.1:c.138C>T	10.37:g.135440109G>A						FRG2B_ENST00000425520.1_Silent_p.T46T	p.T46T			Q96QU4	FRG2B_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	1	187	-		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)	46					Q5VSQ1	Silent	SNP	ENST00000425520.1	37	c.138C>T	CCDS44502.1																																																																																				0.507	FRG2B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000467780.1	NM_001080998		22	32	0	0	0	1	0	22	32				
TMC5	79838	broad.mit.edu	37	16	19451395	19451395	+	Missense_Mutation	SNP	A	A	G			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr16:19451395A>G	ENST00000396229.2	+	3	784	c.35A>G	c.(34-36)gAa>gGa	p.E12G	TMC5_ENST00000381414.4_Missense_Mutation_p.E12G|TMC5_ENST00000541464.1_Missense_Mutation_p.E12G|TMC5_ENST00000542583.2_Missense_Mutation_p.E12G	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	12					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGGTCTGAGGAAGACCCAGAT	0.468																																						ENST00000396229.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(34-36)gAa>gGa		transmembrane channel-like 5							97.0	94.0	95.0					16																	19451395		1863	4120	5983	SO:0001583	missense	79838					integral to membrane		g.chr16:19451395A>G	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.35A>G	16.37:g.19451395A>G	ENSP00000379531:p.Glu12Gly					TMC5_ENST00000542583.2_Missense_Mutation_p.E12G|TMC5_ENST00000541464.1_Missense_Mutation_p.E12G|TMC5_ENST00000381414.4_Missense_Mutation_p.E12G	p.E12G	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN			3	784	+			12					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.35A>G	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	A	12.26	1.884390	0.33255	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583	T;T;T;T	0.72282	-0.54;-0.42;-0.64;-0.64	5.02	1.61	0.23674	.	678.590000	0.00166	N	0.000000	T	0.77585	0.4152	M	0.67953	2.075	0.09310	N	1	B;P;D	0.53619	0.211;0.935;0.961	B;P;P	0.52159	0.04;0.494;0.691	T	0.55724	-0.8096	10	0.87932	D	0	-5.9704	6.5262	0.22303	0.7238:0.0:0.2762:0.0	.	12;12;12	F5GYU8;Q6UXY8;Q6UXY8-2	.;TMC5_HUMAN;.	G	12	ENSP00000441227:E12G;ENSP00000370822:E12G;ENSP00000379531:E12G;ENSP00000446274:E12G	ENSP00000370822:E12G	E	+	2	0	TMC5	19358896	0.004000	0.15560	0.002000	0.10522	0.097000	0.18754	0.365000	0.20348	0.088000	0.17205	0.460000	0.39030	GAA		0.468	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		19	33	0	0	0	1	0	19	33				
ADCY4	196883	broad.mit.edu	37	14	24787935	24787935	+	Silent	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr14:24787935C>T	ENST00000310677.4	-	25	3119	c.3006G>A	c.(3004-3006)ccG>ccA	p.P1002P	ADCY4_ENST00000554068.2_Silent_p.P1002P|ADCY4_ENST00000418030.2_Silent_p.P1002P	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1002					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGTCATATTGCGGCTTCTGGG	0.522																																						ENST00000310677.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(3004-3006)ccG>ccA		adenylate cyclase 4							105.0	100.0	102.0					14																	24787935		2203	4300	6503	SO:0001819	synonymous_variant	196883				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	g.chr14:24787935C>T	AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.3006G>A	14.37:g.24787935C>T						ADCY4_ENST00000418030.2_Silent_p.P1002P|ADCY4_ENST00000554068.2_Silent_p.P1002P	p.P1002P	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN		GBM - Glioblastoma multiforme(265;0.0192)	25	3119	-			1002					B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	c.3006G>A	CCDS9627.1																																																																																				0.522	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			31	42	0	0	0	1	0	31	42				
TUBBP1	92755	broad.mit.edu	37	8	30210240	30210240	+	RNA	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr8:30210240C>T	ENST00000518096.1	+	0	852									tubulin, beta pseudogene 1																		TCACCACCTGCCTCCGCTTCC	0.552																																						ENST00000518096.1																			0																																																			0							g.chr8:30210240C>T	J00317		8p12	2012-10-16	2005-11-15		ENSG00000127589	ENSG00000127589			12414	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 1"""			7070533	Standard	NG_001206		Approved				OTTHUMG00000163834		8.37:g.30210240C>T														0	852	+									RNA	SNP	ENST00000518096.1	37																																																																																						0.552	TUBBP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375880.1	NG_001206		13	26	0	0	0	1	0	13	26				
DSP	1832	broad.mit.edu	37	6	7581050	7581050	+	Nonsense_Mutation	SNP	G	G	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr6:7581050G>T	ENST00000379802.3	+	23	4968	c.4627G>T	c.(4627-4629)Gaa>Taa	p.E1543*	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1543	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GATCGACTATGAAAGGGTTTC	0.507																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(4627-4629)Gaa>Taa		desmoplakin							111.0	114.0	113.0					6																	7581050		2203	4300	6503	SO:0001587	stop_gained	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7581050G>T	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.4627G>T	6.37:g.7581050G>T	ENSP00000369129:p.Glu1543*					DSP_ENST00000418664.2_Intron	p.E1543*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	23	4968	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	1543			Central fibrous rod domain.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Nonsense_Mutation	SNP	ENST00000379802.3	37	c.4627G>T	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	G	46	12.733671	0.99692	.	.	ENSG00000096696	ENST00000379802	.	.	.	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	20.1562	0.98114	0.0:0.0:1.0:0.0	.	.	.	.	X	1543	.	ENSP00000369129:E1543X	E	+	1	0	DSP	7526049	1.000000	0.71417	0.724000	0.30704	0.969000	0.65631	5.470000	0.66756	2.772000	0.95346	0.655000	0.94253	GAA		0.507	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		33	53	1	0	9.45814e-24	1	1.02148e-23	33	53				
POTEM	641455	broad.mit.edu	37	14	20019849	20019849	+	Silent	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr14:20019849G>A	ENST00000551509.1	-	1	423	c.372C>T	c.(370-372)gaC>gaT	p.D124D		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	124										endometrium(4)|kidney(1)|lung(4)	9						AAGCGCTGTCGTCGTAGTCTC	0.597																																						ENST00000551509.1																			0				endometrium(4)|kidney(1)|lung(4)	9						c.(370-372)gaC>gaT		POTE ankyrin domain family, member M							48.0	57.0	55.0					14																	20019849		339	1054	1393	SO:0001819	synonymous_variant	641455							g.chr14:20019849G>A		CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.372C>T	14.37:g.20019849G>A							p.D124D	NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN			1	423	-			124						Silent	SNP	ENST00000551509.1	37	c.372C>T	CCDS45076.1																																																																																				0.597	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409490.3	NM_001145442		48	14	0	0	0	1	0	48	14				
LAMA1	284217	broad.mit.edu	37	18	7033055	7033055	+	Silent	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr18:7033055G>A	ENST00000389658.3	-	15	2184	c.2091C>T	c.(2089-2091)gcC>gcT	p.A697A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	697	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CCAGGTCGATGGCATTAGAGC	0.507																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(2089-2091)gcC>gcT		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						106.0	78.0	87.0					18																	7033055		2203	4300	6503	SO:0001819	synonymous_variant	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7033055G>A	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2091C>T	18.37:g.7033055G>A							p.A697A	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			15	2184	-		Colorectal(10;0.172)	697			Laminin IV type A 1.			Silent	SNP	ENST00000389658.3	37	c.2091C>T	CCDS32787.1																																																																																				0.507	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		5	5	0	0	0	1	0	5	5				
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron	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	220	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:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and 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.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(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)	AGGCGGCTCATAGGGCACCAC	0.557		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)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(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	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	tumor protein p53							102.0	94.0	97.0					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	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.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	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)				TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C	p.Y220C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	791	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	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	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		10	18	0	0	0	1	0	10	18				
KRT1	3848	broad.mit.edu	37	12	53069171	53069171	+	Missense_Mutation	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr12:53069171C>T	ENST00000252244.3	-	9	1799	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	581	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ctgctgcttccggagccgtag	0.726																																						ENST00000252244.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						c.(1741-1743)Gga>Aga		keratin 1							5.0	7.0	7.0					12																	53069171		1730	3608	5338	SO:0001583	missense	3848				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	g.chr12:53069171C>T	X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1741G>A	12.37:g.53069171C>T	ENSP00000252244:p.Gly581Arg						p.G581R	NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN			9	1799	-			581			Gly/Ser-rich.|Tail.		B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	ENST00000252244.3	37	c.1741G>A	CCDS8836.1	.	.	.	.	.	.	.	.	.	.	C	10.26	1.300801	0.23650	.	.	ENSG00000167768	ENST00000252244	D	0.90900	-2.75	4.45	2.58	0.30949	.	.	.	.	.	T	0.77096	0.4080	N	0.08118	0	0.09310	N	1	B	0.29590	0.25	B	0.21546	0.035	T	0.67791	-0.5579	9	0.49607	T	0.09	.	4.8911	0.13728	0.0:0.5296:0.1556:0.3148	.	581	P04264	K2C1_HUMAN	R	581	ENSP00000252244:G581R	ENSP00000252244:G581R	G	-	1	0	KRT1	51355438	0.000000	0.05858	0.344000	0.25628	0.428000	0.31595	-0.221000	0.09202	1.002000	0.39104	0.462000	0.41574	GGA		0.726	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1	NM_006121		5	7	0	0	0	1	0	5	7				
MID2	11043	broad.mit.edu	37	X	107084269	107084269	+	Missense_Mutation	SNP	C	C	G			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chrX:107084269C>G	ENST00000262843.6	+	2	922	c.374C>G	c.(373-375)aCt>aGt	p.T125S	MID2_ENST00000443968.2_Missense_Mutation_p.T125S	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	125					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein localization to microtubule (GO:0035372)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CGGGAAAGGACTTACAGGCCC	0.537																																						ENST00000262843.6																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						c.(373-375)aCt>aGt		midline 2							45.0	43.0	44.0					X																	107084269		2203	4300	6503	SO:0001583	missense	11043					centrosome|microtubule	ligase activity|zinc ion binding	g.chrX:107084269C>G		CCDS14532.2, CCDS14533.2	Xq22.1-q22.2	2013-02-11			ENSG00000080561	ENSG00000080561		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7096	protein-coding gene	gene with protein product		300204				10400986	Standard	NM_012216		Approved	FXY2, TRIM1, RNF60	uc004enl.3	Q9UJV3	OTTHUMG00000022171	ENST00000262843.6:c.374C>G	X.37:g.107084269C>G	ENSP00000262843:p.Thr125Ser					MID2_ENST00000443968.2_Missense_Mutation_p.T125S	p.T125S	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN			2	922	+			125					A6NEL8|A6PVI5|Q5JYF5|Q8WWK1|Q9UJR9	Missense_Mutation	SNP	ENST00000262843.6	37	c.374C>G	CCDS14532.2	.	.	.	.	.	.	.	.	.	.	C	6.802	0.517100	0.13005	.	.	ENSG00000080561	ENST00000451923;ENST00000262843;ENST00000443968	T;T;T	0.59224	0.74;0.28;0.3	5.94	5.08	0.68730	.	0.183873	0.48286	D	0.000196	T	0.23926	0.0579	N	0.01048	-1.04	0.27480	N	0.952615	B;B	0.09022	0.002;0.001	B;B	0.09377	0.002;0.004	T	0.16660	-1.0395	10	0.15066	T	0.55	.	8.1544	0.31160	0.0:0.8175:0.0:0.1825	.	125;125	Q9UJV3;Q9UJV3-2	TRIM1_HUMAN;.	S	105;125;125	ENSP00000410730:T105S;ENSP00000262843:T125S;ENSP00000413976:T125S	ENSP00000262843:T125S	T	+	2	0	MID2	106970925	0.997000	0.39634	1.000000	0.80357	0.949000	0.60115	3.073000	0.50057	1.265000	0.44215	0.600000	0.82982	ACT		0.537	MID2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057852.2	NM_012216		15	7	0	0	0	1	0	15	7				
SEMA4A	64218	broad.mit.edu	37	1	156131199	156131199	+	Silent	SNP	G	G	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr1:156131199G>T	ENST00000368285.3	+	9	1140	c.873G>T	c.(871-873)ctG>ctT	p.L291L	SEMA4A_ENST00000368286.2_Silent_p.L159L|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368284.1_Silent_p.L159L|SEMA4A_ENST00000368282.1_Silent_p.L291L|SEMA4A_ENST00000355014.2_Silent_p.L291L	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	291	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|regulation of cell shape (GO:0008360)|regulation of endothelial cell migration (GO:0010594)|semaphorin-plexin signaling pathway (GO:0071526)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					AGGCCCAGCTGCTCTGCACCC	0.672																																						ENST00000368285.3																			0				breast(1)|ovary(2)|skin(2)	5						c.(871-873)ctG>ctT		sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A							54.0	51.0	52.0					1																	156131199		2203	4300	6503	SO:0001819	synonymous_variant	64218				axon guidance	integral to membrane|plasma membrane	receptor activity	g.chr1:156131199G>T	AK022416	CCDS1132.1, CCDS53378.1	1q22	2014-01-28			ENSG00000196189	ENSG00000196189		"""Semaphorins"""	10729	protein-coding gene	gene with protein product		607292		SEMAB		7748561	Standard	NM_022367		Approved	SemB, FLJ12287, CORD10	uc009wrq.3	Q9H3S1	OTTHUMG00000014042	ENST00000368285.3:c.873G>T	1.37:g.156131199G>T						SEMA4A_ENST00000368286.2_Silent_p.L159L|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Silent_p.L291L|SEMA4A_ENST00000368284.1_Silent_p.L159L|SEMA4A_ENST00000355014.2_Silent_p.L291L	p.L291L	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN			9	1140	+	Hepatocellular(266;0.158)		291			Sema.		B2RDH8|B3KR76|Q5TCI5|Q5TCJ6|Q8WUA9	Silent	SNP	ENST00000368285.3	37	c.873G>T	CCDS1132.1																																																																																				0.672	SEMA4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039484.2	NM_022367		16	26	1	0	7.07596e-05	1	7.34811e-05	16	26				
HMGCS1	3157	broad.mit.edu	37	5	43298628	43298628	+	Missense_Mutation	SNP	G	G	C			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr5:43298628G>C	ENST00000325110.6	-	3	646	c.440C>G	c.(439-441)tCt>tGt	p.S147C	HMGCS1_ENST00000433297.2_Missense_Mutation_p.S147C	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	147					brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|lipid metabolic process (GO:0006629)|liver development (GO:0001889)|male gonad development (GO:0008584)|response to acid chemical (GO:0001101)|response to drug (GO:0042493)|response to lipoprotein particle (GO:0055094)|response to low light intensity stimulus (GO:0009645)|response to purine-containing compound (GO:0014074)|response to tellurium ion (GO:0046690)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hydroxymethylglutaryl-CoA synthase activity (GO:0004421)|isomerase activity (GO:0016853)|organic acid binding (GO:0043177)			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						ACCATCCCAAGAGCTGGACTC	0.428																																						ENST00000325110.6																			0				NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						c.(439-441)tCt>tGt		3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)							95.0	88.0	90.0					5																	43298628		2203	4300	6503	SO:0001583	missense	3157				cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity	g.chr5:43298628G>C		CCDS34154.1	5p14-p13	2012-10-02	2010-04-30			ENSG00000112972	2.3.3.10		5007	protein-coding gene	gene with protein product	"""3-hydroxy-3-methylglutaryl coenzyme A (HMG-CoA) synthase"""	142940	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 1 (soluble)"""	HMGCS			Standard	NM_001098272		Approved		uc003jnq.5	Q01581		ENST00000325110.6:c.440C>G	5.37:g.43298628G>C	ENSP00000322706:p.Ser147Cys					HMGCS1_ENST00000433297.2_Missense_Mutation_p.S147C	p.S147C	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN			3	646	-			147					B2RDL8	Missense_Mutation	SNP	ENST00000325110.6	37	c.440C>G	CCDS34154.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586008	0.86748	.	.	ENSG00000112972	ENST00000325110;ENST00000433297;ENST00000545275	D;D	0.89415	-2.51;-2.51	5.93	5.06	0.68205	Hydroxymethylglutaryl-coenzyme A synthase, N-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.96125	0.8737	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.97401	0.9996	10	0.87932	D	0	-7.701	16.5635	0.84573	0.0:0.0:0.8685:0.1315	.	147	Q01581	HMCS1_HUMAN	C	147;147;136	ENSP00000322706:S147C;ENSP00000399402:S147C	ENSP00000322706:S147C	S	-	2	0	HMGCS1	43334385	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.630000	0.83225	1.493000	0.48517	0.655000	0.94253	TCT		0.428	HMGCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368022.1			4	57	0	0	0	1	0	4	57				
HIST1H4G	8369	broad.mit.edu	37	6	26247132	26247132	+	Missense_Mutation	SNP	T	T	C			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr6:26247132T>C	ENST00000244537.4	-	1	127	c.74A>G	c.(73-75)gAt>gGt	p.D25G		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	25						nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTGAATATTATCGCTCAGTAC	0.547																																						ENST00000244537.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						c.(73-75)gAt>gGt		histone cluster 1, H4g							55.0	51.0	52.0					6																	26247132		2203	4300	6503	SO:0001583	missense	8369				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26247132T>C	Z80788	CCDS4599.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000124578	ENSG00000275663		"""Histones / Replication-dependent"""	4792	protein-coding gene	gene with protein product		602832	"""H4 histone family, member L"", ""histone 1, H4g"""	H4FL		9119399, 12408966	Standard	NM_003547		Approved	H4/l	uc003nhf.3	Q99525	OTTHUMG00000014444	ENST00000244537.4:c.74A>G	6.37:g.26247132T>C	ENSP00000244537:p.Asp25Gly						p.D25G	NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN			1	127	-		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)	25						Missense_Mutation	SNP	ENST00000244537.4	37	c.74A>G	CCDS4599.1	.	.	.	.	.	.	.	.	.	.	.	8.251	0.809106	0.16537	.	.	ENSG00000124578	ENST00000244537	.	.	.	3.2	3.2	0.36748	Histone-fold (2);	.	.	.	.	T	0.44477	0.1295	.	.	.	0.36617	D	0.875558	B	0.22541	0.071	B	0.33690	0.168	T	0.52801	-0.8527	7	0.56958	D	0.05	.	11.4847	0.50346	0.0:0.0:0.0:1.0	.	25	Q99525	H4G_HUMAN	G	25	.	ENSP00000244537:D25G	D	-	2	0	HIST1H4G	26355111	1.000000	0.71417	0.860000	0.33809	0.002000	0.02628	5.547000	0.67249	1.444000	0.47605	0.321000	0.21382	GAT		0.547	HIST1H4G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040107.1	NM_003547		14	29	0	0	0	1	0	14	29				
SYT3	84258	broad.mit.edu	37	19	51132650	51132650	+	Silent	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr19:51132650C>T	ENST00000338916.4	-	4	1815	c.1182G>A	c.(1180-1182)cgG>cgA	p.R394R	SYT3_ENST00000544769.1_Silent_p.R394R|SYT3_ENST00000600079.1_Silent_p.R394R|SYT3_ENST00000593901.1_Silent_p.R394R	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	394	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium ion-dependent exocytosis (GO:0017156)|positive regulation of vesicle fusion (GO:0031340)|response to calcium ion (GO:0051592)	cell junction (GO:0030054)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TGAGGTCGTGCCGCGAGAAGC	0.642																																						ENST00000338916.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35						c.(1180-1182)cgG>cgA		synaptotagmin III							64.0	65.0	65.0					19																	51132650		2203	4300	6503	SO:0001819	synonymous_variant	84258					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	g.chr19:51132650C>T	AL136594	CCDS12798.1	19q13.33	2014-07-02			ENSG00000213023	ENSG00000213023		"""Synaptotagmins"""	11511	protein-coding gene	gene with protein product		600327				7749232	Standard	NM_032298		Approved		uc002psv.3	Q9BQG1	OTTHUMG00000183064	ENST00000338916.4:c.1182G>A	19.37:g.51132650C>T						SYT3_ENST00000544769.1_Silent_p.R394R|SYT3_ENST00000600079.1_Silent_p.R394R|SYT3_ENST00000593901.1_Silent_p.R394R	p.R394R	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)	4	1815	-		all_neural(266;0.131)	394			C2 1.		Q8N5Z1|Q8N640	Silent	SNP	ENST00000338916.4	37	c.1182G>A	CCDS12798.1																																																																																				0.642	SYT3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464910.1	NM_032298		3	25	0	0	0	1	0	3	25				
CDC27	996	broad.mit.edu	37	17	45214654	45214654	+	Missense_Mutation	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:45214654C>T	ENST00000066544.3	-	14	1870	c.1777G>A	c.(1777-1779)Gct>Act	p.A593T	CDC27_ENST00000446365.2_Missense_Mutation_p.A532T|CDC27_ENST00000527547.1_Missense_Mutation_p.A592T|CDC27_ENST00000531206.1_Missense_Mutation_p.A599T	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	593					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ACTTGGATAGCTCTCTGGAAG	0.388																																						ENST00000066544.3																			0				NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						c.(1777-1779)Gct>Act		cell division cycle 27							58.0	61.0	60.0					17																	45214654		2203	4300	6503	SO:0001583	missense	996				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	g.chr17:45214654C>T	U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.1777G>A	17.37:g.45214654C>T	ENSP00000066544:p.Ala593Thr					CDC27_ENST00000446365.2_Missense_Mutation_p.A532T|CDC27_ENST00000527547.1_Missense_Mutation_p.A592T|CDC27_ENST00000531206.1_Missense_Mutation_p.A599T	p.A593T	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN			14	1870	-			593					G3V1C4|Q16349|Q96F35	Missense_Mutation	SNP	ENST00000066544.3	37	c.1777G>A	CCDS11509.1	.	.	.	.	.	.	.	.	.	.	C	37	6.099044	0.97281	.	.	ENSG00000004897	ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547	T;T;D;T	0.83837	0.5;0.5;-1.77;0.5	5.81	5.81	0.92471	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.93792	0.8015	H	0.96175	3.78	0.80722	D	1	D;D;D;D	0.63046	0.992;0.99;0.99;0.982	D;P;D;D	0.65010	0.912;0.821;0.917;0.931	D	0.95232	0.8343	10	0.87932	D	0	-16.7763	17.5633	0.87913	0.0:1.0:0.0:0.0	.	532;592;599;593	B4DL80;G5EA36;G3V1C4;P30260	.;.;.;CDC27_HUMAN	T	593;599;532;592	ENSP00000066544:A593T;ENSP00000434614:A599T;ENSP00000392802:A532T;ENSP00000437339:A592T	ENSP00000066544:A593T	A	-	1	0	CDC27	42569653	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.097000	0.71452	2.761000	0.94854	0.585000	0.79938	GCT		0.388	CDC27-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389742.2			3	28	0	0	0	1	0	3	28				
SNHG14	104472715	broad.mit.edu	37	15	25315644	25315644	+	RNA	SNP	A	A	G			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr15:25315644A>G	ENST00000549804.2	+	0	678				SNHG14_ENST00000551077.1_RNA|SNORD116-9_ENST00000384000.1_RNA|SNORD116-8_ENST00000384365.1_RNA|SNORD116-7_ENST00000384404.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		GTGAGAACTCATACCGTCGTT	0.478																																						ENST00000549804.2																			0																				181.0	160.0	167.0					15																	25315644		876	1991	2867			0							g.chr15:25315644A>G			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25315644A>G						SNHG14_ENST00000551077.1_RNA|SNORD116-8_ENST00000384365.1_RNA								0	678	+									RNA	SNP	ENST00000549804.2	37																																																																																						0.478	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			79	124	0	0	0	1	0	79	124				
PTCHD4	442213	broad.mit.edu	37	6	47846506	47846506	+	Missense_Mutation	SNP	C	C	T	rs528776718		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr6:47846506C>T	ENST00000339488.4	-	3	2107	c.2074G>A	c.(2074-2076)Gtc>Atc	p.V692I		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	692						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.V692L(2)|p.V692I(1)									ATTGAGGTGACGCTAAGAATT	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		19903	0.0		0.001	False		,,,				2504	0.0					ENST00000339488.4																			3	Substitution - Missense(3)	p.V692L(2)|p.V692I(1)	lung(3)								c.(2074-2076)Gtc>Atc		patched domain containing 4							84.0	81.0	82.0					6																	47846506		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846506C>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2074G>A	6.37:g.47846506C>T	ENSP00000341914:p.Val692Ile						p.V692I	NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN			3	2107	-			692					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.2074G>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	14.06	2.424140	0.43020	.	.	ENSG00000244694	ENST00000339488	D	0.82711	-1.64	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.74913	0.3779	L	0.38175	1.15	0.80722	D	1	P	0.46277	0.875	P	0.50490	0.642	T	0.72855	-0.4166	10	0.06625	T	0.88	.	20.3052	0.98627	0.0:1.0:0.0:0.0	.	692	Q6ZW05	CF138_HUMAN	I	692	ENSP00000341914:V692I	ENSP00000341914:V692I	V	-	1	0	C6orf138	47954465	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	4.686000	0.61700	2.814000	0.96858	0.650000	0.86243	GTC		0.453	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		3	22	0	0	0	1	0	3	22				
XKR4	114786	broad.mit.edu	37	8	56270245	56270245	+	Missense_Mutation	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr8:56270245C>T	ENST00000327381.6	+	2	914	c.814C>T	c.(814-816)Cac>Tac	p.H272Y		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	272						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TAGATATTTCCACACAATATA	0.383																																						ENST00000327381.5																			0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34						c.(814-816)Cac>Tac		XK, Kell blood group complex subunit-related family, member 4							106.0	103.0	104.0					8																	56270245		2203	4300	6503	SO:0001583	missense	114786					integral to membrane		g.chr8:56270245C>T	AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.814C>T	8.37:g.56270245C>T	ENSP00000328326:p.His272Tyr						p.H272Y	NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	Epithelial(17;0.000117)|all cancers(17;0.000836)		2	914	+			272					Q96PZ8	Missense_Mutation	SNP	ENST00000327381.6	37	c.814C>T	CCDS34893.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.434886	0.83885	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.63744	-0.06	5.87	5.87	0.94306	.	0.101796	0.64402	D	0.000003	T	0.73071	0.3540	L	0.58101	1.795	0.58432	D	0.999997	D	0.65815	0.995	P	0.56865	0.808	T	0.67887	-0.5554	10	0.30854	T	0.27	-14.4055	20.2032	0.98269	0.0:1.0:0.0:0.0	.	272	Q5GH76	XKR4_HUMAN	Y	272	ENSP00000328326:H272Y	ENSP00000328326:H272Y	H	+	1	0	XKR4	56432799	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.818000	0.86416	2.785000	0.95823	0.650000	0.86243	CAC		0.383	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378129.2	NM_052898		5	44	0	0	0	1	0	5	44				
LYG2	254773	broad.mit.edu	37	2	99863226	99863226	+	Missense_Mutation	SNP	C	C	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:99863226C>T	ENST00000409238.1	-	2	121	c.101G>A	c.(100-102)cGc>cAc	p.R34H	LYG2_ENST00000333017.2_Missense_Mutation_p.R34H|LYG2_ENST00000423800.1_Missense_Mutation_p.R34H|LYG2_ENST00000409679.1_Missense_Mutation_p.R34H			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	34					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						GTGGTACAGGCGTGGATGTAG	0.512																																						ENST00000409679.1																			0				large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						c.(100-102)cGc>cAc		lysozyme G-like 2							189.0	157.0	168.0					2																	99863226		2203	4300	6503	SO:0001583	missense	254773				cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity	g.chr2:99863226C>T	AF323919	CCDS2042.1	2q11.2	2008-02-05			ENSG00000185674	ENSG00000185674			29615	protein-coding gene	gene with protein product						8889548, 12574869	Standard	NM_175735		Approved	LYGH	uc002szw.1	Q86SG7	OTTHUMG00000130643	ENST00000409238.1:c.101G>A	2.37:g.99863226C>T	ENSP00000386939:p.Arg34His					LYG2_ENST00000333017.2_Missense_Mutation_p.R34H|LYG2_ENST00000409238.1_Missense_Mutation_p.R34H	p.R34H			Q86SG7	LYG2_HUMAN			3	245	-			34					Q496G2|Q53RW0	Missense_Mutation	SNP	ENST00000409238.1	37	c.101G>A	CCDS2042.1	.	.	.	.	.	.	.	.	.	.	C	9.495	1.101661	0.20632	.	.	ENSG00000185674	ENST00000409238;ENST00000333017;ENST00000409679;ENST00000423306	.	.	.	5.14	3.18	0.36537	.	0.121362	0.38111	N	0.001820	T	0.30727	0.0774	L	0.50919	1.6	0.27643	N	0.947651	B;B;B	0.22983	0.078;0.078;0.078	B;B;B	0.12837	0.008;0.008;0.008	T	0.11470	-1.0586	8	.	.	.	-0.8057	5.6393	0.17554	0.0:0.6881:0.2033:0.1086	.	34;34;34	Q496G2;C9J4J0;Q86SG7	.;.;LYG2_HUMAN	H	34	.	.	R	-	2	0	LYG2	99229658	0.021000	0.18746	0.899000	0.35326	0.042000	0.13812	0.182000	0.16900	1.382000	0.46385	0.462000	0.41574	CGC		0.512	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330307.1	NM_175735		17	50	0	0	0	1	0	17	50				
CYP7B1	9420	broad.mit.edu	37	8	65527680	65527680	+	Silent	SNP	G	G	A			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr8:65527680G>A	ENST00000310193.3	-	4	1133	c.960C>T	c.(958-960)gaC>gaT	p.D320D	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	320					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)	p.D320D(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GGTCAATTTCGTCACGCACTG	0.488																																						ENST00000310193.3																			2	Substitution - coding silent(2)	p.D320D(2)	large_intestine(1)|lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						c.(958-960)gaC>gaT		cytochrome P450, family 7, subfamily B, polypeptide 1							105.0	97.0	100.0					8																	65527680		2203	4300	6503	SO:0001819	synonymous_variant	9420				bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	g.chr8:65527680G>A	AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.960C>T	8.37:g.65527680G>A						CYP7B1_ENST00000523954.1_5'UTR	p.D320D	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN			4	1133	-		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)	320					B2RN07|Q9UNF5	Silent	SNP	ENST00000310193.3	37	c.960C>T	CCDS6180.1																																																																																				0.488	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378550.1			19	28	0	0	0	1	0	19	28				
VIT	5212	broad.mit.edu	37	2	37035700	37035700	+	Missense_Mutation	SNP	G	G	A	rs373664967		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:37035700G>A	ENST00000389975.3	+	14	1732	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	VIT_ENST00000379242.3_Missense_Mutation_p.R492Q|VIT_ENST00000497382.1_Missense_Mutation_p.R146Q|VIT_ENST00000404084.1_Missense_Mutation_p.R429Q|VIT_ENST00000401530.1_Missense_Mutation_p.R456Q|VIT_ENST00000379241.3_Missense_Mutation_p.R455Q	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	477	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CTGGTGAAGCGGGTCTGCGAC	0.612																																						ENST00000379242.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57						c.(1474-1476)cGg>cAg		vitrin		G	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	52.0	48.0	50.0		1430,1367,1364,1475	5.3	1.0	2		50	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense	VIT	NM_001177969.1,NM_001177970.1,NM_001177971.1,NM_053276.3	43,43,43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging	477/679,456/658,455/657,492/694	37035700	1,13005	2203	4300	6503	SO:0001583	missense	5212					proteinaceous extracellular matrix		g.chr2:37035700G>A	AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.1430G>A	2.37:g.37035700G>A	ENSP00000374625:p.Arg477Gln					VIT_ENST00000401530.1_Missense_Mutation_p.R456Q|VIT_ENST00000404084.1_Missense_Mutation_p.R429Q|VIT_ENST00000389975.3_Missense_Mutation_p.R477Q|VIT_ENST00000379241.3_Missense_Mutation_p.R455Q|VIT_ENST00000497382.1_Missense_Mutation_p.R146Q	p.R492Q	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN			15	1777	+		all_hematologic(82;0.248)	477					A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	ENST00000389975.3	37	c.1475G>A	CCDS54347.1	.	.	.	.	.	.	.	.	.	.	G	18.08	3.543082	0.65198	0.0	1.16E-4	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000497382;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T;T	0.55930	0.49;0.49;1.14;0.49;0.49;1.14	5.26	5.26	0.73747	von Willebrand factor, type A (1);	0.056379	0.64402	D	0.000001	T	0.67487	0.2898	M	0.65975	2.015	0.52501	D	0.999953	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.999	T	0.63883	-0.6536	10	0.25751	T	0.34	-10.4879	12.2636	0.54665	0.0775:0.0:0.9225:0.0	.	456;455;477;492	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	Q	492;477;146;429;455;456	ENSP00000368544:R492Q;ENSP00000374625:R477Q;ENSP00000417874:R146Q;ENSP00000384154:R429Q;ENSP00000368543:R455Q;ENSP00000385658:R456Q	ENSP00000368543:R455Q	R	+	2	0	VIT	36889204	1.000000	0.71417	1.000000	0.80357	0.237000	0.25408	6.471000	0.73562	2.461000	0.83175	0.555000	0.69702	CGG		0.612	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding				17	23	0	0	0	1	0	17	23				
IL18R1	8809	broad.mit.edu	37	2	102992417	102992417	+	Missense_Mutation	SNP	G	G	T			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:102992417G>T	ENST00000409599.1	+	6	875	c.519G>T	c.(517-519)aaG>aaT	p.K173N	IL18R1_ENST00000233957.1_Missense_Mutation_p.K173N			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	173	Ig-like C2-type 2.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CGATAAAGAAGAACGCCGAGT	0.313																																						ENST00000409599.1																			0				breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(517-519)aaG>aaT		interleukin 18 receptor 1							60.0	60.0	60.0					2																	102992417		2203	4300	6503	SO:0001583	missense	8809				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:102992417G>T	U43672	CCDS2060.1	2q12	2013-01-29			ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	protein-coding gene	gene with protein product		604494				8626725, 10191101	Standard	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	Q13478	OTTHUMG00000130780	ENST00000409599.1:c.519G>T	2.37:g.102992417G>T	ENSP00000387211:p.Lys173Asn					IL18R1_ENST00000233957.1_Missense_Mutation_p.K173N	p.K173N			Q13478	IL18R_HUMAN			6	875	+			173			Ig-like C2-type 2.		B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	c.519G>T	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094238	0.36952	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	T;T;T	0.11277	2.79;2.79;2.79	4.9	3.06	0.35304	.	0.091238	0.47455	D	0.000234	T	0.17789	0.0427	L	0.45137	1.4	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.67900	0.954;0.954	T	0.05435	-1.0885	10	0.25106	T	0.35	.	6.5942	0.22664	0.2144:0.0:0.7856:0.0	.	173;173	B7ZKV7;Q13478	.;IL18R_HUMAN	N	173	ENSP00000386663:K173N;ENSP00000387211:K173N;ENSP00000233957:K173N	ENSP00000233957:K173N	K	+	3	2	IL18R1	102358849	1.000000	0.71417	0.395000	0.26283	0.037000	0.13140	2.019000	0.41001	1.169000	0.42739	0.655000	0.94253	AAG		0.313	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2	NM_003855		15	39	1	0	1.15088e-07	1	1.21858e-07	15	39				
TNIK	23043	broad.mit.edu	37	3	170928956	170928956	+	Frame_Shift_Del	DEL	G	G	-			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr3:170928956delG	ENST00000436636.2	-	4	599	c.255delC	c.(253-255)tacfs	p.Y86fs	TNIK_ENST00000488470.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000369326.5_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000460047.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000357327.5_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000284483.8_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000341852.6_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000475336.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000470834.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000538048.1_Frame_Shift_Del_p.Y86fs	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	86	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AAGCACCATAGTATGTAGCAA	0.338																																						ENST00000436636.2																			0				cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62						c.(253-255)tafs		TRAF2 and NCK interacting kinase							125.0	122.0	123.0					3																	170928956		1831	4092	5923	SO:0001589	frameshift_variant	23043				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr3:170928956delG	AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.255delC	3.37:g.170928956delG	ENSP00000399511:p.Tyr86fs					TNIK_ENST00000357327.5_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000470834.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000341852.6_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000284483.8_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000538048.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000460047.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000488470.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000475336.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000369326.5_Frame_Shift_Del_p.Y86fs	p.Y86fs	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		4	599	-	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		86			Protein kinase.		A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Frame_Shift_Del	DEL	ENST00000436636.2	37	c.255delC	CCDS46956.1																																																																																				0.338	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352973.2	XM_039796		17	30						17	30	---	---	---	---
ZNF876P	642280	broad.mit.edu	37	4	206717	206736	+	RNA	DEL	GGGACCCGCGCTCCTGTCGG	GGGACCCGCGCTCCTGTCGG	-	rs534308162|rs558749809|rs577192664|rs202223370	byFrequency	TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr4:206717_206736delGGGACCCGCGCTCCTGTCGG	ENST00000356347.3	+	0	172					NR_027481.1		Q49A33	Z876P_HUMAN	zinc finger protein 876, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CCTCCGGTGAGGGACCCGCGCTCCTGTCGGGGGACCCGCG	0.718														271	0.0541134	0.1566	0.0331	5008	,	,		16027	0.002		0.0288	False		,,,				2504	0.0102					ENST00000356347.3																			0																																																			0							g.chr4:206717_206736delGGGACCCGCGCTCCTGTCGG	BC028359		4p16.3	2011-04-20	2010-08-03	2009-07-22	ENSG00000198155	ENSG00000198155			32472	pseudogene	pseudogene							Standard	NR_027481		Approved		uc010iba.4	Q49A33	OTTHUMG00000159874		4.37:g.206717_206736delGGGACCCGCGCTCCTGTCGG								NR_027481.1						0	172	+									RNA	DEL	ENST00000356347.3	37																																																																																						0.718	ZNF876P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000357870.2	NR_027481		5	3						5	3	---	---	---	---
CCT6A	908	broad.mit.edu	37	7	56127963	56127967	+	Splice_Site	DEL	GAGAA	GAGAA	-			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr7:56127963_56127967delGAGAA	ENST00000275603.4	+	10	1286_1290	c.1067_1071delGAGAA	c.(1066-1071)ggagaa>g	p.GE356fs	CCT6A_ENST00000335503.3_Splice_Site_p.GE311fs|SNORA15_ENST00000384439.1_RNA|CCT6A_ENST00000540286.1_Splice_Site_p.GE325fs	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	356					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TACACATAGGGAGAAGAGAAGTTTA	0.361																																						ENST00000275603.4																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15						c.e10-1		chaperonin containing TCP1, subunit 6A (zeta 1)																																				SO:0001630	splice_region_variant	908				'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding	g.chr7:56127963_56127967delGAGAA	M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.1066-1GAGAA>-	7.37:g.56127968_56127972delGAGAA						CCT6A_ENST00000540286.1_Splice_Site_p.GE325_splice|CCT6A_ENST00000335503.3_Splice_Site_p.GE311_splice	p.GE356_splice	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		10	1286_1290	+	Breast(14;0.214)		356					A6NCD2|Q3KP28|Q75LP4|Q96S46	Splice_Site	DEL	ENST00000275603.4	37	c.1065_splice	CCDS5523.1																																																																																				0.361	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762	Frame_Shift_Del	11	37						11	37	---	---	---	---
AGAP4	119016	broad.mit.edu	37	10	46342668	46342688	+	In_Frame_Del	DEL	GCTCCTGCCATCCTGTCCCCA	GCTCCTGCCATCCTGTCCCCA	-	rs200468982	byFrequency	TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENST00000448048.2	-	1	233_253	c.108_128delTGGGGACAGGATGGCAGGAGC	c.(106-129)gctggggacaggatggcaggagcg>gcg	p.36_43AGDRMAGA>A	AGAP4_ENST00000430779.2_5'UTR	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 4	36					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G37_A43delGDRMAGA(1)		central_nervous_system(1)|lung(1)|ovary(1)	3						AGCCATGGGCGCTCCTGCCATCCTGTCCCCAGCTCCTGCCT	0.588																																						ENST00000448048.2																			1	Deletion - In frame(1)	p.G37_A43delGDRMAGA(1)	central_nervous_system(1)	central_nervous_system(1)|lung(1)|ovary(1)	3						c.(106-129)gcg>gc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 4				0,6		0,0,3						-2.8	0.0			1	28,40		13,2,19	no	coding	AGAP4	NM_133446.2		13,2,22	A1A1,A1R,RR		41.1765,0.0,37.8378				28,46				SO:0001651	inframe_deletion	119016				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:46342668_46342688delGCTCCTGCCATCCTGTCCCCA	AF411132	CCDS7215.1	10q11.21	2014-06-19	2008-09-22	2008-09-22	ENSG00000188234	ENSG00000188234		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23459	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 1"", ""ArfGAP with GTPase domain, ankyrin repeat and PH domain 8"", ""centaurin, gamma-like family, member 5"""	CTGLF1, AGAP8, CTGLF5		12477932	Standard	XM_005271797		Approved	Em:AC012044.1, MRIP2	uc001jcx.4	Q96P64	OTTHUMG00000018088	ENST00000448048.2:c.108_128delTGGGGACAGGATGGCAGGAGC	10.37:g.46342668_46342688delGCTCCTGCCATCCTGTCCCCA	ENSP00000392513:p.Ala36_Gly42del					AGAP4_ENST00000430779.2_5'UTR	p.AGDRMAGA36del	NM_133446.2	NP_597703.2	Q96P64	AGAP4_HUMAN			1	233_253	-			36						In_Frame_Del	DEL	ENST00000448048.2	37	c.108_128delTGGGGACAGGATGGCAGGAGC	CCDS7215.1																																																																																				0.588	AGAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047799.1	NM_133446		3	4						3	4	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23331163	23331163	+	RNA	DEL	A	A	-			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr15:23331163delA	ENST00000560464.1	-	0	908									hect domain and RLD 2 pseudogene 2																		AATAAATACTAAAAAAAAAAA	0.368																																						ENST00000560464.1																			0																																																			0							g.chr15:23331163delA	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23331163delA														0	908	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.368	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			3	5						3	5	---	---	---	---
ANKRD20A11P	391267	broad.mit.edu	37	21	15347257	15347258	+	RNA	INS	-	-	A	rs80199214		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr21:15347257_15347258insA	ENST00000344693.5	-	0	736					NR_027270.1				ankyrin repeat domain 20 family, member A11, pseudogene																		ACCCTGCACAGAAAAAAAGTTG	0.307																																						ENST00000344693.5																			0																																																			0							g.chr21:15347257_15347258insA			21q11.2	2011-11-23			ENSG00000215559	ENSG00000215559			42024	pseudogene	pseudogene			"""chromosome 21 open reading frame 81"""	C21orf81			Standard	NR_027270		Approved		uc002yjj.4		OTTHUMG00000074237		21.37:g.15347264_15347264dupA								NR_027270.1						0	736	-									RNA	INS	ENST00000344693.5	37																																																																																						0.307	ANKRD20A11P-005	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157750.1			3	3						3	3	---	---	---	---
